Incidental Mutation 'IGL01799:Mks1'
ID 155458
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Mks1
Ensembl Gene ENSMUSG00000034121
Gene Name MKS transition zone complex subunit 1
Synonyms B8d3, avc6, Meckel syndrome, type 1
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL01799
Quality Score
Status
Chromosome 11
Chromosomal Location 87744041-87754629 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 87747689 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 191 (I191F)
Ref Sequence ENSEMBL: ENSMUSP00000043790 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000038196]
AlphaFold Q5SW45
Predicted Effect probably benign
Transcript: ENSMUST00000038196
AA Change: I191F

PolyPhen 2 Score 0.281 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000043790
Gene: ENSMUSG00000034121
AA Change: I191F

DomainStartEndE-ValueType
low complexity region 163 170 N/A INTRINSIC
Pfam:B9-C2 316 496 1.8e-45 PFAM
low complexity region 533 547 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000130135
Predicted Effect noncoding transcript
Transcript: ENSMUST00000149256
Predicted Effect noncoding transcript
Transcript: ENSMUST00000153729
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene localizes to the basal body and is required for formation of the primary cilium in ciliated epithelial cells. Mutations in this gene result in Meckel syndrome type 1 and in Bardet-Biedl syndrome type 13. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2009]
PHENOTYPE: Mice homozygous for an ENU-induced or targeted allele exhibit polydactyly, heterotaxia, skeletal defects, and kidney cysts along with abnormal lung, kidney, liver, and heart morphology. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 31 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Akr1c20 T A 13: 4,564,257 (GRCm39) probably null Het
Anp32a A G 9: 62,279,092 (GRCm39) T35A probably benign Het
Dennd1a A G 2: 37,938,754 (GRCm39) Y119H probably damaging Het
Evc T C 5: 37,482,258 (GRCm39) I32V possibly damaging Het
Fbll1 A C 11: 35,688,936 (GRCm39) V109G possibly damaging Het
Gli3 T C 13: 15,900,746 (GRCm39) S1378P probably benign Het
Hcfc2 G A 10: 82,536,825 (GRCm39) C79Y probably damaging Het
Hdac5 A T 11: 102,090,911 (GRCm39) I741N possibly damaging Het
Heatr5a T C 12: 51,944,618 (GRCm39) D1289G probably benign Het
Hyal5 T A 6: 24,891,336 (GRCm39) N383K probably benign Het
Itsn1 T C 16: 91,645,770 (GRCm39) L59P probably damaging Het
Lrrc8b T A 5: 105,633,757 (GRCm39) L743Q probably benign Het
Micos10 G T 4: 138,831,308 (GRCm39) probably benign Het
Mrc1 T A 2: 14,243,187 (GRCm39) N104K probably damaging Het
Ms4a6d A T 19: 11,567,499 (GRCm39) I26N probably damaging Het
Mup17 T C 4: 61,511,948 (GRCm39) T109A probably benign Het
Mylk4 T G 13: 32,965,674 (GRCm39) E9A probably benign Het
Myo7b C T 18: 32,095,823 (GRCm39) V1812M probably damaging Het
Nbas T C 12: 13,374,401 (GRCm39) probably benign Het
Ncoa2 T C 1: 13,222,599 (GRCm39) probably benign Het
Nlrp4f T C 13: 65,335,276 (GRCm39) H771R probably benign Het
Opa1 T C 16: 29,435,476 (GRCm39) V642A possibly damaging Het
Or9g3 T A 2: 85,589,986 (GRCm39) I245F probably benign Het
Pate12 T C 9: 36,344,179 (GRCm39) L54P possibly damaging Het
Pi4ka C A 16: 17,207,235 (GRCm39) L23F probably damaging Het
Rerg T A 6: 137,033,376 (GRCm39) K100* probably null Het
Sema6c T C 3: 95,078,142 (GRCm39) V506A probably damaging Het
Slc15a1 T G 14: 121,718,141 (GRCm39) N246T possibly damaging Het
Sorcs1 A G 19: 50,218,647 (GRCm39) probably null Het
Vmn2r118 A G 17: 55,899,990 (GRCm39) L638P probably damaging Het
Vmn2r80 G A 10: 79,007,385 (GRCm39) G454S possibly damaging Het
Other mutations in Mks1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02291:Mks1 APN 11 87,750,493 (GRCm39) unclassified probably benign
IGL02406:Mks1 APN 11 87,753,611 (GRCm39) missense probably benign 0.02
IGL02938:Mks1 APN 11 87,753,478 (GRCm39) critical splice donor site probably null
IGL03094:Mks1 APN 11 87,746,291 (GRCm39) splice site probably benign
R0389:Mks1 UTSW 11 87,748,754 (GRCm39) missense probably benign
R0893:Mks1 UTSW 11 87,747,777 (GRCm39) splice site probably benign
R1490:Mks1 UTSW 11 87,753,595 (GRCm39) missense probably benign 0.02
R1514:Mks1 UTSW 11 87,751,937 (GRCm39) missense probably benign 0.31
R2042:Mks1 UTSW 11 87,747,494 (GRCm39) splice site probably benign
R4289:Mks1 UTSW 11 87,747,530 (GRCm39) intron probably benign
R4757:Mks1 UTSW 11 87,753,850 (GRCm39) makesense probably null
R4868:Mks1 UTSW 11 87,744,549 (GRCm39) splice site probably benign
R5243:Mks1 UTSW 11 87,747,504 (GRCm39) intron probably benign
R5708:Mks1 UTSW 11 87,747,665 (GRCm39) missense probably benign 0.21
R5848:Mks1 UTSW 11 87,747,696 (GRCm39) missense probably benign 0.00
R6289:Mks1 UTSW 11 87,750,485 (GRCm39) critical splice donor site probably null
R6320:Mks1 UTSW 11 87,746,325 (GRCm39) missense probably benign 0.00
R7205:Mks1 UTSW 11 87,747,428 (GRCm39) missense probably benign 0.02
R7642:Mks1 UTSW 11 87,747,666 (GRCm39) missense possibly damaging 0.93
R7816:Mks1 UTSW 11 87,751,542 (GRCm39) missense probably damaging 1.00
R9027:Mks1 UTSW 11 87,748,041 (GRCm39) missense probably damaging 0.99
R9502:Mks1 UTSW 11 87,753,766 (GRCm39) missense probably damaging 1.00
Z1177:Mks1 UTSW 11 87,751,549 (GRCm39) frame shift probably null
Posted On 2014-02-04