Incidental Mutation 'IGL01353:Tmem67'
ID75453
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tmem67
Ensembl Gene ENSMUSG00000049488
Gene Nametransmembrane protein 67
Synonymsb2b1291.1Clo, 5330408M12Rik, b2b1163.1Clo
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL01353
Quality Score
Status
Chromosome4
Chromosomal Location12039355-12090020 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to A at 12079895 bp
ZygosityHeterozygous
Amino Acid Change Cysteine to Phenylalanine at position 132 (C132F)
Ref Sequence ENSEMBL: ENSMUSP00000052644 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000050686] [ENSMUST00000108293]
Predicted Effect probably damaging
Transcript: ENSMUST00000050686
AA Change: C132F

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000052644
Gene: ENSMUSG00000049488
AA Change: C132F

DomainStartEndE-ValueType
low complexity region 17 23 N/A INTRINSIC
Pfam:Meckelin 166 995 N/A PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000108293
AA Change: C198F

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000103928
Gene: ENSMUSG00000049488
AA Change: C198F

DomainStartEndE-ValueType
low complexity region 83 89 N/A INTRINSIC
Pfam:Meckelin 236 1061 N/A PFAM
Predicted Effect unknown
Transcript: ENSMUST00000131145
AA Change: C129F
SMART Domains Protein: ENSMUSP00000115154
Gene: ENSMUSG00000049488
AA Change: C129F

DomainStartEndE-ValueType
low complexity region 15 21 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000146140
Predicted Effect noncoding transcript
Transcript: ENSMUST00000147746
Predicted Effect noncoding transcript
Transcript: ENSMUST00000151859
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 primary cilium and to the plasma membrane. The gene functions in centriole migration to the apical membrane and formation of the primary cilium. Multiple transcript variants encoding different isoforms have been found for this gene. Defects in this gene are a cause of Meckel syndrome type 3 (MKS3) and Joubert syndrome type 6 (JBTS6). [provided by RefSeq, Nov 2008]
PHENOTYPE: Mice homozygous for a targeted allele exhibit neonatal/postanal lethality, kidney cysts, and Meckel-Gruber or Joubert syndrome-like phenotypes depending on the filial generation of the backcross to C57BL/6J. Mice homozygous for an ENU-induced allele exhibit cardiovascular defects and cystic kidney. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc3 A T 11: 94,352,108 V1304E possibly damaging Het
Acr T C 15: 89,569,492 L78P probably damaging Het
Adamts12 T C 15: 11,292,005 probably benign Het
Adgrb2 T C 4: 130,012,300 S872P probably damaging Het
Adhfe1 T A 1: 9,566,863 N413K probably benign Het
Apoh T A 11: 108,397,385 C110S probably damaging Het
Arhgap11a A G 2: 113,833,524 F805L probably damaging Het
BC049730 G T 7: 24,714,237 S226I probably damaging Het
Bin3 C T 14: 70,134,826 L191F possibly damaging Het
Col3a1 A G 1: 45,333,638 probably benign Het
Dapp1 T C 3: 137,961,480 K107R probably benign Het
Dnah5 T C 15: 28,233,272 V259A probably benign Het
Dnah6 T C 6: 73,173,456 M775V probably benign Het
Dnah9 A G 11: 66,080,571 L1597P probably damaging Het
Elfn2 G A 15: 78,672,418 A643V possibly damaging Het
Epha6 T C 16: 60,424,895 T314A probably damaging Het
Fn1 C A 1: 71,586,939 W2237L probably damaging Het
Foxp4 T A 17: 47,888,153 D97V probably damaging Het
Kcnb2 C A 1: 15,710,824 T640K probably benign Het
Miga2 G A 2: 30,371,233 probably null Het
Nacad T A 11: 6,600,530 Q887L possibly damaging Het
Olfr1058 A T 2: 86,386,021 Y132* probably null Het
Olfr165 C T 16: 19,407,583 M145I probably benign Het
Olfr464 T C 11: 87,914,172 I245V probably benign Het
Olfr866 T C 9: 20,027,047 N297S probably damaging Het
Otub2 A T 12: 103,404,322 M288L probably benign Het
Otud4 A G 8: 79,665,021 S432G probably benign Het
Pcca G A 14: 122,582,617 V58I probably damaging Het
Pdpr T A 8: 111,121,278 probably null Het
Pinx1 C A 14: 63,866,115 Q48K probably benign Het
Pkd1l2 G T 8: 117,057,443 S698R probably benign Het
Psg29 A G 7: 17,205,013 R71G possibly damaging Het
Psmd3 T A 11: 98,690,600 V271E probably benign Het
Smarcc1 A G 9: 110,135,666 N97S probably benign Het
Sulf2 C T 2: 166,087,095 G319S probably damaging Het
Ttll7 T C 3: 146,961,719 L780P probably damaging Het
Vmn1r223 A G 13: 23,249,256 T7A unknown Het
Vmn1r76 T G 7: 11,930,810 H159P probably damaging Het
Vnn1 G A 10: 23,900,840 C363Y probably damaging Het
Wdr64 T G 1: 175,731,585 L305V probably damaging Het
Zkscan4 T C 13: 21,484,348 L323P probably damaging Het
Zscan10 A T 17: 23,609,600 H295L probably damaging Het
Other mutations in Tmem67
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00569:Tmem67 APN 4 12061826 missense probably damaging 0.98
IGL00768:Tmem67 APN 4 12055029 critical splice donor site probably null
IGL00813:Tmem67 APN 4 12058587 splice site probably benign
IGL01070:Tmem67 APN 4 12054750 missense probably benign 0.20
IGL01088:Tmem67 APN 4 12063126 missense probably damaging 1.00
IGL01490:Tmem67 APN 4 12057422 splice site probably benign
IGL01885:Tmem67 APN 4 12057389 missense probably damaging 1.00
IGL02061:Tmem67 APN 4 12053526 missense probably damaging 1.00
IGL02151:Tmem67 APN 4 12068882 missense probably benign 0.35
IGL02166:Tmem67 APN 4 12047313 missense possibly damaging 0.90
IGL02243:Tmem67 APN 4 12070584 missense possibly damaging 0.93
IGL02517:Tmem67 APN 4 12069463 missense possibly damaging 0.67
IGL02736:Tmem67 APN 4 12045789 splice site probably null
R0282:Tmem67 UTSW 4 12087930 missense probably damaging 0.99
R0514:Tmem67 UTSW 4 12089317 missense probably benign
R1221:Tmem67 UTSW 4 12045871 missense possibly damaging 0.92
R1301:Tmem67 UTSW 4 12089400 unclassified probably benign
R1581:Tmem67 UTSW 4 12047814 missense probably damaging 1.00
R1680:Tmem67 UTSW 4 12087840 missense probably benign 0.00
R1804:Tmem67 UTSW 4 12045789 splice site probably null
R2174:Tmem67 UTSW 4 12063730 nonsense probably null
R2191:Tmem67 UTSW 4 12069413 critical splice donor site probably null
R2246:Tmem67 UTSW 4 12040651 missense probably damaging 1.00
R2566:Tmem67 UTSW 4 12079918 missense probably damaging 0.99
R3409:Tmem67 UTSW 4 12073952 missense probably benign 0.00
R3410:Tmem67 UTSW 4 12073952 missense probably benign 0.00
R4078:Tmem67 UTSW 4 12040633 critical splice donor site probably null
R4282:Tmem67 UTSW 4 12073922 missense probably damaging 0.99
R4429:Tmem67 UTSW 4 12051473 missense possibly damaging 0.52
R4430:Tmem67 UTSW 4 12051473 missense possibly damaging 0.52
R4431:Tmem67 UTSW 4 12051473 missense possibly damaging 0.52
R4734:Tmem67 UTSW 4 12063158 missense probably benign 0.00
R4856:Tmem67 UTSW 4 12089416 unclassified probably benign
R4865:Tmem67 UTSW 4 12070262 missense probably benign 0.01
R5056:Tmem67 UTSW 4 12070471 missense probably benign 0.29
R5575:Tmem67 UTSW 4 12047886 missense possibly damaging 0.93
R5614:Tmem67 UTSW 4 12061755 missense possibly damaging 0.54
R6030:Tmem67 UTSW 4 12063799 missense probably benign 0.01
R6030:Tmem67 UTSW 4 12063799 missense probably benign 0.01
R6182:Tmem67 UTSW 4 12051402 missense probably benign 0.05
R6562:Tmem67 UTSW 4 12053445 critical splice donor site probably null
R6574:Tmem67 UTSW 4 12063086 missense possibly damaging 0.70
R6696:Tmem67 UTSW 4 12061754 critical splice donor site probably null
R6824:Tmem67 UTSW 4 12051449 missense probably damaging 1.00
R7028:Tmem67 UTSW 4 12075484 missense probably benign 0.12
R7174:Tmem67 UTSW 4 12077337 missense possibly damaging 0.82
R7369:Tmem67 UTSW 4 12053535 missense probably damaging 1.00
R7638:Tmem67 UTSW 4 12079883 missense probably benign 0.17
R7671:Tmem67 UTSW 4 12063698 missense probably benign 0.00
R7736:Tmem67 UTSW 4 12053455 missense probably benign 0.09
R7920:Tmem67 UTSW 4 12089284 critical splice donor site probably null
R7981:Tmem67 UTSW 4 12070592 missense probably damaging 1.00
R8005:Tmem67 UTSW 4 12047821 missense probably damaging 1.00
R8086:Tmem67 UTSW 4 12040738 missense probably damaging 1.00
R8196:Tmem67 UTSW 4 12075661 missense probably benign 0.00
R8344:Tmem67 UTSW 4 12058576 missense probably benign 0.00
R8350:Tmem67 UTSW 4 12087891 missense probably benign 0.07
R8450:Tmem67 UTSW 4 12087891 missense probably benign 0.07
Z1176:Tmem67 UTSW 4 12087983 missense probably benign 0.01
Posted On2013-10-07