Incidental Mutation 'IGL02061:Tmem67'
ID 185406
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tmem67
Ensembl Gene ENSMUSG00000049488
Gene Name transmembrane protein 67
Synonyms b2b1291.1Clo, 5330408M12Rik, b2b1163.1Clo
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock # IGL02061
Quality Score
Status
Chromosome 4
Chromosomal Location 12039355-12090020 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) G to A at 12053526 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Alanine to Valine at position 740 (A740V)
Ref Sequence ENSEMBL: ENSMUSP00000103928 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000050686] [ENSMUST00000108293]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000050686
AA Change: A674V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000052644
Gene: ENSMUSG00000049488
AA Change: A674V

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: A740V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000103928
Gene: ENSMUSG00000049488
AA Change: A740V

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

DomainStartEndE-ValueType
low complexity region 15 21 N/A INTRINSIC
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: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arl15 T A 13: 113,794,657 D3E probably benign Het
Atp4a A G 7: 30,715,029 Y159C probably damaging Het
Card10 A G 15: 78,778,215 F861S probably damaging Het
Ccdc85c A G 12: 108,221,743 V279A probably damaging Het
Cndp1 G A 18: 84,634,626 R136W probably damaging Het
Eif2b3 A G 4: 117,028,411 E50G possibly damaging Het
Eva1c C T 16: 90,866,275 Q67* probably null Het
Exoc1 A G 5: 76,542,120 E169G probably damaging Het
Fam189b C T 3: 89,188,596 R545* probably null Het
Fsd2 T A 7: 81,540,424 K537* probably null Het
Gbf1 T G 19: 46,279,258 S1236A possibly damaging Het
Gpt C A 15: 76,699,417 probably benign Het
Gsap A G 5: 21,281,611 probably benign Het
Hdac6 A C X: 7,943,639 probably null Het
Ivns1abp T A 1: 151,351,573 L44Q probably damaging Het
Kcnt1 T A 2: 25,900,482 probably null Het
Kdm2b A G 5: 122,883,341 I58T probably damaging Het
Mrpl23 C T 7: 142,540,582 P76S probably benign Het
Nbea A G 3: 55,717,887 I2261T possibly damaging Het
Oasl1 G A 5: 114,923,592 V61M probably damaging Het
Olfr1288 T A 2: 111,479,269 F162I possibly damaging Het
Pabpc2 A G 18: 39,774,993 Q437R probably benign Het
Ppp1r26 T A 2: 28,450,627 C90S possibly damaging Het
Ppp3ca A G 3: 136,797,863 T66A probably benign Het
Prss55 A G 14: 64,075,743 Y231H possibly damaging Het
Psmb10 T C 8: 105,937,711 T38A probably damaging Het
Rfx5 A G 3: 94,958,481 T364A probably benign Het
Scgb2b26 T C 7: 33,943,185 N107S probably benign Het
Seh1l A G 18: 67,787,258 probably benign Het
Sod1 T A 16: 90,225,238 H111Q probably benign Het
Thbs2 A T 17: 14,679,914 D592E probably benign Het
Tra2a A G 6: 49,249,098 V136A possibly damaging Het
Ttc37 T A 13: 76,129,541 probably null Het
Utp18 T C 11: 93,882,141 D158G probably benign Het
Zfp524 A G 7: 5,017,872 E133G 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
IGL01353:Tmem67 APN 4 12079895 missense probably damaging 1.00
IGL01490:Tmem67 APN 4 12057422 splice site probably benign
IGL01885:Tmem67 APN 4 12057389 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
R8899:Tmem67 UTSW 4 12055038 missense probably damaging 0.99
R8992:Tmem67 UTSW 4 12058559 missense probably damaging 1.00
R9281:Tmem67 UTSW 4 12079962 missense possibly damaging 0.90
R9335:Tmem67 UTSW 4 12040640 nonsense probably null
Z1176:Tmem67 UTSW 4 12087983 missense probably benign 0.01
Posted On 2014-05-07