Incidental Mutation 'IGL02291:Mks1'
ID 290336
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Mks1
Ensembl Gene ENSMUSG00000034121
Gene Name Meckel syndrome, type 1
Synonyms B8d3
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock # IGL02291
Quality Score
Chromosome 11
Chromosomal Location 87853215-87863803 bp(+) (GRCm38)
Type of Mutation unclassified
DNA Base Change (assembly) T to A at 87859667 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000050497 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000038196] [ENSMUST00000049768]
AlphaFold Q5SW45
Predicted Effect probably benign
Transcript: ENSMUST00000038196
SMART Domains Protein: ENSMUSP00000043790
Gene: ENSMUSG00000034121

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 probably benign
Transcript: ENSMUST00000049768
SMART Domains Protein: ENSMUSP00000050497
Gene: ENSMUSG00000052234

signal peptide 1 23 N/A INTRINSIC
Pfam:An_peroxidase 146 690 8.3e-184 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000130135
Predicted Effect noncoding transcript
Transcript: ENSMUST00000135369
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: 29 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
AF366264 T A 8: 13,837,704 N129I probably benign Het
Arhgap10 T A 8: 77,382,715 probably benign Het
Cfap161 C T 7: 83,791,639 G135D probably benign Het
Cpne1 A G 2: 156,078,420 V179A probably damaging Het
Cpsf1 A T 15: 76,602,821 I219N probably damaging Het
Creb3l4 T G 3: 90,241,983 R139S probably benign Het
Fer1l4 T C 2: 156,019,538 K1929E probably damaging Het
Gm5431 A G 11: 48,888,964 L655P probably damaging Het
Igsf3 T G 3: 101,439,529 H613Q probably damaging Het
Kcnab1 T C 3: 65,357,082 Y251H possibly damaging Het
Kmt2d T C 15: 98,865,492 probably benign Het
Krt17 A T 11: 100,256,493 V404E probably benign Het
Lipo2 A G 19: 33,745,792 I199T possibly damaging Het
Nlrp1a A T 11: 71,122,589 probably null Het
Nup210 T C 6: 91,101,268 D100G probably damaging Het
Olfr108 G A 17: 37,446,285 V255I possibly damaging Het
Olfr1393 T A 11: 49,280,985 I279N probably damaging Het
Olfr532 A T 7: 140,419,287 L162Q probably damaging Het
Olfr871 T C 9: 20,212,802 I151T probably benign Het
Psmd5 A G 2: 34,857,799 V282A probably benign Het
Rasal3 A T 17: 32,393,737 probably benign Het
Rnf10 T C 5: 115,260,196 N93D probably damaging Het
Slc7a9 G A 7: 35,457,014 G294R probably damaging Het
Taf7 C T 18: 37,643,362 G51R possibly damaging Het
Tas2r126 G A 6: 42,435,287 M251I probably benign Het
Trim33 T C 3: 103,326,865 F473S probably damaging Het
Vmn1r127 A G 7: 21,319,074 L263P possibly damaging Het
Vmn1r234 G A 17: 21,228,931 V36I probably benign Het
Vmn2r84 T A 10: 130,390,748 H407L probably damaging Het
Other mutations in Mks1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01799:Mks1 APN 11 87856863 missense probably benign 0.28
IGL02406:Mks1 APN 11 87862785 missense probably benign 0.02
IGL02938:Mks1 APN 11 87862652 critical splice donor site probably null
IGL03094:Mks1 APN 11 87855465 splice site probably benign
R0389:Mks1 UTSW 11 87857928 missense probably benign
R0893:Mks1 UTSW 11 87856951 splice site probably benign
R1490:Mks1 UTSW 11 87862769 missense probably benign 0.02
R1514:Mks1 UTSW 11 87861111 missense probably benign 0.31
R2042:Mks1 UTSW 11 87856668 splice site probably benign
R4289:Mks1 UTSW 11 87856704 intron probably benign
R4757:Mks1 UTSW 11 87863024 makesense probably null
R4868:Mks1 UTSW 11 87853723 splice site probably benign
R5243:Mks1 UTSW 11 87856678 intron probably benign
R5708:Mks1 UTSW 11 87856839 missense probably benign 0.21
R5848:Mks1 UTSW 11 87856870 missense probably benign 0.00
R6289:Mks1 UTSW 11 87859659 critical splice donor site probably null
R6320:Mks1 UTSW 11 87855499 missense probably benign 0.00
R7205:Mks1 UTSW 11 87856602 missense probably benign 0.02
R7642:Mks1 UTSW 11 87856840 missense possibly damaging 0.93
R7816:Mks1 UTSW 11 87860716 missense probably damaging 1.00
R9027:Mks1 UTSW 11 87857215 missense probably damaging 0.99
R9502:Mks1 UTSW 11 87862940 missense probably damaging 1.00
Z1177:Mks1 UTSW 11 87860723 frame shift probably null
Posted On 2015-04-16