Mks1 (MKS transition zone complex subunit 1) - Rat Genome Database

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Gene: Mks1 (MKS transition zone complex subunit 1) Mus musculus
Analyze
Symbol: Mks1
Name: MKS transition zone complex subunit 1
RGD ID: 1614795
MGI Page MGI
Description: Involved in branching morphogenesis of an epithelial tube and cilium assembly. Acts upstream of or within several processes, including chordate embryonic development; plasma membrane bounded cell projection organization; and regulation of Wnt signaling pathway. Located in ciliary transition zone; membrane; and microtubule organizing center. Part of MKS complex. Is expressed in several structures, including brain; esophagus epithelium; lung; metanephros; and secondary heart field. Used to study Meckel syndrome; atrioventricular septal defect; and tetralogy of Fallot. Human ortholog(s) of this gene implicated in Bardet-Biedl syndrome; Bardet-Biedl syndrome 13; Joubert syndrome 28; and Meckel syndrome 1. Orthologous to human MKS1 (MKS transition zone complex subunit 1).
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: AK190930; av; avc6; B8d3; FABB proteome-like; Meckel syndrome type 1 protein homolog; Meckel syndrome, type 1; tectonic-like complex member MKS1
RGD Orthologs
Human
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Latest Assembly: GRCm39 - Mouse Genome Assembly GRCm39
Position:
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391187,744,007 - 87,754,629 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1187,744,041 - 87,754,629 (+)EnsemblGRCm39 Ensembl
GRCm381187,853,182 - 87,863,803 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1187,853,215 - 87,863,803 (+)EnsemblGRCm38mm10GRCm38
MGSCv371187,666,727 - 87,677,181 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361187,669,410 - 87,679,998 (+)NCBIMGSCv36mm8
Celera1197,455,630 - 97,466,108 (+)NCBICelera
Cytogenetic Map11CNCBI
cM Map1152.24NCBI
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component
centriole  (IDA)
centrosome  (IDA,ISO)
ciliary basal body  (IEA,ISO)
ciliary transition zone  (IDA,IMP)
cytoplasm  (IEA,ISO)
membrane  (IDA)
MKS complex  (IBA,IDA)

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View

Mammalian Phenotype
abnormal autopod morphology  (IAGP)
abnormal bile duct development  (IAGP)
abnormal bile duct morphology  (IAGP)
abnormal brain morphology  (IAGP)
abnormal cell morphology  (IAGP)
abnormal cerebral aqueduct morphology  (IAGP)
abnormal cerebral cortex morphology  (IAGP)
abnormal cerebral hemisphere morphology  (IAGP)
abnormal cochlear hair cell morphology  (IAGP)
abnormal cochlear outer hair cell morphology  (IAGP)
abnormal craniofacial morphology  (IAGP)
abnormal direction of heart looping  (IAGP)
abnormal ear morphology  (IAGP)
abnormal embryo turning  (IAGP)
abnormal endochondral bone ossification  (IAGP)
abnormal ependyma motile cilium morphology  (IAGP)
abnormal eye morphology  (IAGP)
abnormal floor plate morphology  (IAGP)
abnormal fontanelle morphology  (IAGP)
abnormal forebrain development  (IAGP)
abnormal frontal bone morphology  (IAGP)
abnormal heart looping  (IAGP)
abnormal liver morphology  (IAGP)
abnormal long bone morphology  (IAGP)
abnormal loop of Henle ascending limb thick segment morphology  (IAGP)
abnormal motile primary cilium morphology  (IAGP)
abnormal nail morphology  (IEA)
abnormal neocortex morphology  (IAGP)
abnormal neural tube morphology  (IAGP)
abnormal occipital bone morphology  (IAGP)
abnormal orientation of outer hair cell stereociliary bundles  (IAGP)
abnormal ovary development  (IAGP)
abnormal parietal bone morphology  (IAGP)
abnormal pollex morphology  (IAGP)
abnormal posterior cranial fossa morphology  (IAGP)
abnormal primary cilium morphology  (IAGP)
abnormal renal glomerular capsule morphology  (IAGP)
abnormal renal tubule epithelial cell primary cilium morphology  (IAGP)
abnormal reproductive system morphology  (IAGP)
abnormal sternum morphology  (IAGP)
abnormal stomach position or orientation  (IAGP)
abnormal supraoccipital bone morphology  (IAGP)
abnormal thoracic cage morphology  (IAGP)
abnormal urinary system development  (IAGP)
absent maxilla  (IAGP)
absent nodal flow  (IAGP)
absent spleen  (IAGP)
accessory spleen  (IAGP)
anophthalmia  (IAGP)
cerebellum vermis hypoplasia  (IAGP)
cleft palate  (IAGP)
cleft upper lip  (IAGP)
complete atrioventricular septal defect  (IAGP)
cyanosis  (IAGP)
decreased embryonic cilium length  (IAGP)
decreased embryonic cilium number  (IAGP)
decreased kidney epithelial cell primary cilium length  (IAGP)
decreased length of long bones  (IAGP)
decreased respiration  (IAGP)
dextrocardia  (IAGP)
dilated kidney collecting duct  (IAGP)
dilated nephron  (IAGP)
dilated renal glomerular capsule  (IAGP)
domed cranium  (IAGP)
duplex kidney  (IAGP)
ectopic ovary  (IAGP)
edema  (IAGP)
embryonic lethality during organogenesis, incomplete penetrance  (IAGP)
enlarged fourth ventricle  (IAGP)
enlarged heart  (IAGP)
enlarged kidney  (IAGP)
enophthalmos  (IAGP)
exencephaly  (IAGP)
fused right lung lobes  (IAGP)
heterotaxia  (IAGP)
hydrocephaly  (IAGP)
incomplete rostral neuropore closure  (IAGP)
increased cell proliferation  (IAGP)
increased kidney cell proliferation  (IAGP)
increased neuron apoptosis  (IAGP)
kidney cortex cyst  (IAGP)
kidney cyst  (IAGP)
left pulmonary isomerism  (IAGP)
lethality throughout fetal growth and development, complete penetrance  (IAGP)
lethality throughout fetal growth and development, incomplete penetrance  (IAGP)
liver cyst  (IAGP)
liver fibrosis  (IAGP)
mandible hypoplasia  (IAGP)
micrognathia  (IAGP)
microphthalmia  (IAGP)
neonatal lethality, complete penetrance  (IAGP)
ocular hypertelorism  (IAGP)
omphalocele  (IAGP)
pericardial effusion  (IAGP)
perinatal lethality  (IAGP)
pointed snout  (IAGP)
polycystic kidney  (IAGP)
polydactyly  (IAGP)
polyphalangy  (IAGP)
preaxial polydactyly  (IAGP)
presphenoid bone hypoplasia  (IAGP)
pulmonary hypoplasia  (IAGP)
rib bifurcation  (IAGP)
rib fusion  (IAGP)
right aortic arch  (IAGP)
semilobar holoprosencephaly  (IAGP)
short sternum  (IAGP)
situs inversus  (IAGP)
small heart  (IAGP)
split sternal manubrium  (IAGP)
transposition of great arteries  (IAGP)
References

References - curated
# Reference Title Reference Citation
1. A disease causing deletion of 29 base pairs in intron 15 in the MKS1 gene is highly associated with the campomelic variant of the Meckel-Gruber syndrome. Auber B, etal., Clin Genet. 2007 Nov;72(5):454-9.
2. Disruption of Mks1 localization to the mother centriole causes cilia defects and developmental malformations in Meckel-Gruber syndrome. Cui C, etal., Dis Model Mech. 2011 Jan;4(1):43-56. doi: 10.1242/dmm.006262. Epub 2010 Nov 2.
3. Spectrum of MKS1 and MKS3 mutations in Meckel syndrome: a genotype-phenotype correlation. Mutation in brief #960. Online. Khaddour R, etal., Hum Mutat. 2007 May;28(5):523-4.
4. Hypomorphic mutations in syndromic encephalocele genes are associated with Bardet-Biedl syndrome. Leitch CC, etal., Nat Genet. 2008 Apr;40(4):443-8. doi: 10.1038/ng.97. Epub 2008 Mar 9.
5. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
6. Mouse MP Annotation Import Pipeline RGD automated import pipeline
7. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
8. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
9. Founder mutations and genotype-phenotype correlations in Meckel-Gruber syndrome and associated ciliopathies. Szymanska K, etal., Cilia. 2012 Oct 1;1(1):18. doi: 10.1186/2046-2530-1-18.
10. A mouse model for Meckel syndrome reveals Mks1 is required for ciliogenesis and Hedgehog signaling. Weatherbee SD, etal., Hum Mol Genet. 2009 Dec 1;18(23):4565-75. doi: 10.1093/hmg/ddp422. Epub 2009 Sep 22.
Additional References at PubMed
PMID:10349636   PMID:11042159   PMID:11076861   PMID:11217851   PMID:12466851   PMID:12477932   PMID:14610273   PMID:15782199   PMID:16141072   PMID:16141073   PMID:16415886   PMID:17185389  
PMID:20511334   PMID:20843830   PMID:21267068   PMID:21565611   PMID:21677750   PMID:21725307   PMID:21763481   PMID:21873635   PMID:22179047   PMID:23454480   PMID:23870131   PMID:24302887  
PMID:25256713   PMID:27340223   PMID:28185240   PMID:28291807   PMID:29038301   PMID:30626697   PMID:30973865   PMID:32325033   PMID:32554809   PMID:35170427   PMID:38355793   PMID:38822427  


Genomics

Comparative Map Data
Mks1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391187,744,007 - 87,754,629 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1187,744,041 - 87,754,629 (+)EnsemblGRCm39 Ensembl
GRCm381187,853,182 - 87,863,803 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1187,853,215 - 87,863,803 (+)EnsemblGRCm38mm10GRCm38
MGSCv371187,666,727 - 87,677,181 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361187,669,410 - 87,679,998 (+)NCBIMGSCv36mm8
Celera1197,455,630 - 97,466,108 (+)NCBICelera
Cytogenetic Map11CNCBI
cM Map1152.24NCBI
MKS1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381758,205,441 - 58,219,255 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1758,205,441 - 58,219,605 (-)EnsemblGRCh38hg38GRCh38
GRCh371756,282,802 - 56,296,616 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361753,637,797 - 53,651,665 (-)NCBINCBI36Build 36hg18NCBI36
Celera1752,744,576 - 52,758,745 (-)NCBICelera
Cytogenetic Map17q22NCBI
HuRef1751,643,618 - 51,657,787 (-)NCBIHuRef
CHM1_11756,347,849 - 56,361,992 (-)NCBICHM1_1
T2T-CHM13v2.01759,073,328 - 59,087,136 (-)NCBIT2T-CHM13v2.0
Mks1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81073,152,599 - 73,167,451 (+)NCBIGRCr8
mRatBN7.21072,655,921 - 72,667,007 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1072,655,921 - 72,666,655 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1077,266,443 - 77,277,109 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01076,771,389 - 76,782,055 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01072,235,889 - 72,246,555 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01075,149,814 - 75,160,481 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1075,149,814 - 75,160,480 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01074,941,813 - 74,952,856 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41076,149,130 - 76,159,796 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
Celera1071,568,522 - 71,579,188 (+)NCBICelera
Cytogenetic Map10q26NCBI
Mks1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554514,804,838 - 4,821,556 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049554514,805,542 - 4,818,233 (+)NCBIChiLan1.0ChiLan1.0
MKS1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21974,377,243 - 74,391,173 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11779,188,347 - 79,202,279 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01752,281,443 - 52,295,919 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11757,137,254 - 57,151,122 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1757,137,254 - 57,151,328 (-)Ensemblpanpan1.1panPan2
MKS1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1932,865,972 - 32,878,712 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl932,860,995 - 32,879,338 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha932,098,261 - 32,115,901 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0933,667,847 - 33,685,484 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl933,670,019 - 33,685,433 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1932,452,658 - 32,471,689 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0932,737,326 - 32,754,965 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0932,830,998 - 32,848,617 (-)NCBIUU_Cfam_GSD_1.0
Mks1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440560232,198,449 - 32,209,826 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049364904,865,243 - 4,878,912 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049364904,865,243 - 4,876,601 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
MKS1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1234,499,142 - 34,512,187 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11234,499,139 - 34,512,191 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21236,299,683 - 36,312,762 (+)NCBISscrofa10.2Sscrofa10.2susScr3
MKS1
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11635,182,276 - 35,196,167 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl1635,182,568 - 35,199,858 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_0236660775,998,400 - 6,013,481 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Mks1
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462487151,122 - 63,742 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462487150,688 - 63,772 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in Mks1
8 total Variants
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:1040
Count of miRNA genes:494
Interacting mature miRNAs:587
Transcripts:ENSMUST00000038196, ENSMUST00000130135, ENSMUST00000135369, ENSMUST00000149256, ENSMUST00000153729
Prediction methods:Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.


QTLs in Region (GRCm39)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
27226783Tibl5_mtibia length 5, 5 week (mouse)1168190826101890826Mouse
1300628Lgth6_mbody length 6 (mouse)Not determined1166733420100733652Mouse
4141367Inf1_macute ozone induced inflammation (mouse)Not determined44630038113058009Mouse
1558812Rafar_mretinoic acid induced forelimb autopod reduction (mouse)Not determined1170691198104691366Mouse
1300766Skull16_mskull morphology 16 (mouse)Not determined1181574481115574636Mouse
1301404Sbmd4_mspinal bone mineral density 4 (mouse)Not determined1172019649106019734Mouse
4142121Tmc1m2_mTmc1 modifier 2 (mouse)Not determined1156864027114157957Mouse
27226758Femd3_mfemur midshaft diameter 3, 5 week (mouse)1180890826101890826Mouse
14747003Mancz9_mmandible centroid size 9 (mouse)1185844911119844911Mouse
1301640Lore4_mloss of righting induced by ethanol 4 (mouse)Not determined1179156009107616472Mouse
10412288Carg4_mCandida albicans resistance gene 4 (mouse)Not determined1181810267115810267Mouse
1357878Mastr_mmodifier of astrocytoma (mouse)Not determined114570858189818733Mouse
1301681Sle13_msystematic lupus erythematosus susceptibility 13 (mouse)Not determined1170691198104691366Mouse
1300784Prdt3_mprion disease incubation time 3 (mouse)Not determined1166733420100733652Mouse
4141339Nilac2_mnicotine induced locomotor activity 2 (mouse)Not determined1170691198104691366Mouse
10413882Moe1_mmodifier of epilepsy 1 (mouse)1177770978111771099Mouse
11039501Ltpr6a_mLeishmania tropica response 6a (mouse)116483033698830473Mouse
13208559Wght10_mweight 10 (mouse)11395000088890826Mouse
11039502Ltpr6b_mLeishmania tropica response 6b (mouse)116483033698830473Mouse
13208558Lgth12_mbody length 12 (mouse)11395000094890826Mouse
10045616Heal25_mwound healing/regeneration 25 (mouse)Not determined1177437183111437322Mouse
1300664Etohcta9_methanol conditioned taste aversion 9 (mouse)Not determined115775466091754758Mouse
1357631Motr1_mmodifier of tubby retinal degeneration 1 (mouse)Not determined1187691198103274115Mouse
1301310Tmevd5_mTheiler's murine encephalomyelitis virus induced demyelinating disease susceptibility 5 (mouse)Not determined1172726125106726289Mouse
11039515Ltpr6_mLeishmania tropica response 6 (mouse)116483033698830473Mouse
4142348Pstc2_mperiosteal circumference 2 (mouse)Not determined1172818615106818733Mouse
1301414Heal10_mwound healing/regeneration 10 (mouse)Not determined1177437183111437322Mouse
15092049Wsigrme3_mweek six growth rate, maternal effect 3 (mouse)118487732496629512Mouse
1300651Pcyts3_mplasmacytoma susceptibility 3 (mouse)Not determined1170691198104691366Mouse
1301546Pcir2_mperiosteal circumference 2 (mouse)Not determined1166733420100733652Mouse
1300905Scc6_mcolon tumor susceptibility 6 (mouse)Not determined11688027789019734Mouse
1300649Crhq1_mcompensatory renal hypertrophy QTL 1 (mouse)Not determined1181574481115574636Mouse
27226789Feml16_mfemur length 16, 10 week (mouse)1187490826121873369Mouse
14746970Manh71_mmandible shape 71 (mouse)1179416257113416257Mouse
15092057Lgrme3_mlate growth rate, maternal effect 3 (mouse)118487732496629512Mouse
10043865T2dm5sa_mtype 2 diabetes mellitus 5 in SMXA RI mice (mouse)Not determined1179813759104502698Mouse
39128214Lwq20_mliver weight QTL 20 (mouse)1112268637118022724Mouse
10043866Adip19_madiposity 19 (mouse)Not determined1172818615106818733Mouse
1301072Eae22_mexperimental allergic encephalomyelitis 22 (mouse)Not determined1182377698116377820Mouse
10412246Dfs2_mdental fluorosis suseptibility 2 (mouse)Not determined112180736495881231Mouse
11038695Par8_mpulmonary adenoma resistance 8 (mouse)1177063779111063918Mouse
1357766Si5lq6_mserum IGFBP-5 level QTL 6 (mouse)Not determined1166733420100733652Mouse
1301319Dautb4_mdopamine uptake transporter binding 4 (mouse)Not determined116215600596156153Mouse
1301833Tbbmd5_mtotal body bone mineral density 5 (mouse)Not determined1166733420100733652Mouse
15014785Mvlq1_mmacrovesicular liver lesion QTL 1 (mouse)1186608320120608320Mouse
4141012Femwf6_mfemur work to failure 6 (mouse)Not determined66733420100733652Mouse
15039374Adip29_madiposity 29 (mouse)1186608320120608320Mouse
1301987Pid3_mprior incubation determinant 3 (mouse)Not determined116168682088699728Mouse
27226730Tibmd1_mtibia midshaft diameter 1, 5 week (mouse)1162590826109390826Mouse
15039376Bw42_mbody weight QTL 42 (mouse)1186608320120608320Mouse
4141894Nidd6k_mNidd6 on KK-A (mouse)Not determined1912420496897826Mouse
10044004Stzid3_mstreptozotocin induced diabetes susceptibility 3 (mouse)Not determined116331940794063918Mouse
10044007Hbnr14_mHeligmosomoides bakeri nematode resistance 14 (mouse)Not determined1187502600121502698Mouse
1302124Eae7_msusceptibility to experimental allergic encephalomyelitis 7 (mouse)Not determined117757387399377820Mouse

Markers in Region
Mks1  
Mouse AssemblyChrPosition (strand)SourceJBrowse
GRCm381187,862,800 - 87,863,396UniSTSGRCm38
MGSCv371187,676,302 - 87,676,898UniSTSGRCm37
Celera1197,465,229 - 97,465,825UniSTS
Cytogenetic Map11CUniSTS
cM Map11 UniSTS


Expression

RNA-SEQ Expression


Sequence


Ensembl Acc Id: ENSMUST00000038196   ⟹   ENSMUSP00000043790
Type: CODING
Position:
Mouse AssemblyChrPosition (strand)Source
GRCm39 Ensembl1187,744,041 - 87,754,629 (+)Ensembl
GRCm38.p6 Ensembl1187,853,215 - 87,863,803 (+)Ensembl
Ensembl Acc Id: ENSMUST00000130135
Type: CODING
Position:
Mouse AssemblyChrPosition (strand)Source
GRCm39 Ensembl1187,744,053 - 87,750,139 (+)Ensembl
GRCm38.p6 Ensembl1187,853,227 - 87,859,313 (+)Ensembl
Ensembl Acc Id: ENSMUST00000135369
Type: CODING
Position:
Mouse AssemblyChrPosition (strand)Source
GRCm39 Ensembl1187,752,763 - 87,754,087 (+)Ensembl
GRCm38.p6 Ensembl1187,861,937 - 87,863,261 (+)Ensembl
Ensembl Acc Id: ENSMUST00000149256
Type: CODING
Position:
Mouse AssemblyChrPosition (strand)Source
GRCm39 Ensembl1187,747,389 - 87,748,117 (+)Ensembl
GRCm38.p6 Ensembl1187,856,563 - 87,857,291 (+)Ensembl
Ensembl Acc Id: ENSMUST00000153729
Type: CODING
Position:
Mouse AssemblyChrPosition (strand)Source
GRCm39 Ensembl1187,744,491 - 87,750,139 (+)Ensembl
GRCm38.p6 Ensembl1187,853,665 - 87,859,313 (+)Ensembl
RefSeq Acc Id: NM_001039684   ⟹   NP_001034773
RefSeq Status: VALIDATED
Type: CODING
Position:
Mouse AssemblyChrPosition (strand)Source
GRCm391187,744,041 - 87,754,629 (+)NCBI
GRCm381187,853,215 - 87,863,803 (+)NCBI
MGSCv371187,666,727 - 87,677,181 (+)RGD
Celera1197,455,630 - 97,466,108 (+)RGD
cM Map11 ENTREZGENE
Sequence:
RefSeq Acc Id: XM_017314631   ⟹   XP_017170120
Type: CODING
Position:
Mouse AssemblyChrPosition (strand)Source
GRCm391187,744,008 - 87,750,145 (+)NCBI
GRCm381187,853,182 - 87,859,319 (+)NCBI
Sequence:
RefSeq Acc Id: XM_036156818   ⟹   XP_036012711
Type: CODING
Position:
Mouse AssemblyChrPosition (strand)Source
GRCm391187,744,007 - 87,754,629 (+)NCBI
Sequence:
RefSeq Acc Id: XR_003949468
Type: NON-CODING
Position:
Mouse AssemblyChrPosition (strand)Source
GRCm391187,744,008 - 87,754,629 (+)NCBI
GRCm381187,853,182 - 87,863,803 (+)NCBI
Sequence:
RefSeq Acc Id: NP_001034773   ⟸   NM_001039684
- UniProtKB: Q3V3W3 (UniProtKB/Swiss-Prot),   Q5SW45 (UniProtKB/Swiss-Prot),   Q284W0 (UniProtKB/TrEMBL),   B2KGP7 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_017170120   ⟸   XM_017314631
- Peptide Label: isoform X1
- Sequence:
Ensembl Acc Id: ENSMUSP00000043790   ⟸   ENSMUST00000038196
RefSeq Acc Id: XP_036012711   ⟸   XM_036156818
- Peptide Label: isoform X2
- UniProtKB: B2KGP7 (UniProtKB/TrEMBL)
Protein Domains
C2 B9-type

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q5SW45-F1-model_v2 AlphaFold Q5SW45 1-561 view protein structure

Promoters
RGD ID:6821314
Promoter ID:MM_KWN:9099
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:BoneMarrow_0Hour,   BoneMarrow_2Hour,   BoneMarrow_4Hour,   Brain,   ES_Cell,   Lung,   MEF_B4,   MEF_B6,   Spleen
Transcripts:OTTMUST00000002797,   OTTMUST00000002798,   UC007KUT.1
Position:
Mouse AssemblyChrPosition (strand)Source
MGSCv361187,666,521 - 87,667,021 (+)MPROMDB
RGD ID:8676080
Promoter ID:EPDNEW_M16071
Type:multiple initiation site
Name:Mks1_1
Description:Mus musculus Meckel syndrome, type 1 , mRNA.
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Mouse AssemblyChrPosition (strand)Source
GRCm381187,853,215 - 87,853,275EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene MGI:3584243 AgrOrtholog
Ensembl Genes ENSMUSG00000034121 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENSMUST00000038196 ENTREZGENE
  ENSMUST00000038196.7 UniProtKB/Swiss-Prot
InterPro B9_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report mmu:380718 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
MGD MGI:3584243 ENTREZGENE
NCBI Gene 380718 ENTREZGENE
PANTHER MECKEL SYNDROME TYPE 1 PROTEIN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR12968 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam B9-C2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PhenoGen Mks1 PhenoGen
PROSITE PS51381 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt B2KGP7 ENTREZGENE, UniProtKB/TrEMBL
  MKS1_MOUSE UniProtKB/Swiss-Prot
  Q284W0 ENTREZGENE, UniProtKB/TrEMBL
  Q3UUM5_MOUSE UniProtKB/TrEMBL
  Q3V3W3 ENTREZGENE
  Q5SW45 ENTREZGENE
UniProt Secondary Q3V3W3 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2020-02-18 Mks1  MKS transition zone complex subunit 1  Mks1  Meckel syndrome, type 1  Symbol and/or name change 5135510 APPROVED