Incidental Mutation 'IGL03094:Mks1'
ID418508
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Mks1
Ensembl Gene ENSMUSG00000034121
Gene NameMeckel syndrome, type 1
SynonymsB8d3
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL03094
Quality Score
Status
Chromosome11
Chromosomal Location87853215-87863803 bp(+) (GRCm38)
Type of Mutationsplice site
DNA Base Change (assembly) A to G at 87855465 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000043790 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000038196]
Predicted Effect probably benign
Transcript: ENSMUST00000038196
SMART Domains Protein: ENSMUSP00000043790
Gene: ENSMUSG00000034121

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: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca6 T C 11: 110,184,112 N1375S probably benign Het
Adamts15 A T 9: 30,904,472 probably benign Het
Ahnak G A 19: 9,003,547 V732M possibly damaging Het
Akr1c19 G A 13: 4,236,185 V61I probably benign Het
BC025920 C A 10: 81,609,072 R10S probably benign Het
Cdh11 T C 8: 102,658,403 I347V probably benign Het
Cyp11b2 A G 15: 74,853,037 probably null Het
Cyp4a31 T A 4: 115,578,108 probably benign Het
Emilin3 G A 2: 160,908,729 Q320* probably null Het
Glra3 C A 8: 56,125,172 H421Q probably benign Het
Gtf2f1 T C 17: 57,007,049 N145S probably damaging Het
Hsd17b12 A T 2: 94,033,994 V256E probably damaging Het
Ighv1-34 C T 12: 114,851,338 G68E probably damaging Het
Ipo5 T C 14: 120,943,677 probably benign Het
Knop1 T A 7: 118,853,151 D63V possibly damaging Het
Krt39 T C 11: 99,520,802 probably benign Het
Ldhb T C 6: 142,505,527 K5R probably benign Het
Loxhd1 A T 18: 77,431,113 I1872F possibly damaging Het
Lrfn5 A G 12: 61,839,746 N107D probably benign Het
Nup93 C T 8: 94,296,502 T236I probably benign Het
Olfr1357 A G 10: 78,612,119 I174T possibly damaging Het
Olig3 T C 10: 19,357,130 S168P probably benign Het
Pcna C T 2: 132,251,753 E109K probably benign Het
Per3 A C 4: 151,009,298 I1020R probably damaging Het
Plbd2 T C 5: 120,486,780 N441S probably damaging Het
Plec A G 15: 76,191,319 S398P probably damaging Het
Ppm1m T G 9: 106,196,411 K314T probably damaging Het
Prmt2 T A 10: 76,210,390 probably benign Het
Rbm19 T C 5: 120,122,958 S216P probably damaging Het
Sart1 A G 19: 5,384,081 probably benign Het
Tmem225 A T 9: 40,148,386 I21L possibly damaging Het
Tnnt2 T C 1: 135,849,462 probably null Het
Trappc10 A T 10: 78,228,920 probably benign Het
Trip13 A G 13: 73,932,956 L97P probably benign Het
Zmat2 T G 18: 36,796,066 V89G probably damaging Het
Other mutations in Mks1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01799:Mks1 APN 11 87856863 missense probably benign 0.28
IGL02291:Mks1 APN 11 87859667 unclassified probably benign
IGL02406:Mks1 APN 11 87862785 missense probably benign 0.02
IGL02938:Mks1 APN 11 87862652 critical splice donor site probably null
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
Z1177:Mks1 UTSW 11 87860723 frame shift probably null
Posted On2016-08-02