Incidental Mutation 'IGL01070:Tmem67'
ID 50852
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
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL01070
Quality Score
Status
Chromosome 4
Chromosomal Location 12039355-12090020 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 12054750 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Lysine at position 685 (M685K)
Ref Sequence ENSEMBL: ENSMUSP00000103928 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000050686] [ENSMUST00000108293]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000050686
AA Change: M619K

PolyPhen 2 Score 0.123 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000052644
Gene: ENSMUSG00000049488
AA Change: M619K

DomainStartEndE-ValueType
low complexity region 17 23 N/A INTRINSIC
Pfam:Meckelin 166 995 N/A PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000108293
AA Change: M685K

PolyPhen 2 Score 0.200 (Sensitivity: 0.92; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000103928
Gene: ENSMUSG00000049488
AA Change: M685K

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
1110038F14Rik G A 15: 76,834,475 (GRCm39) V124I probably damaging Het
Adamts5 T C 16: 85,660,021 (GRCm39) H757R probably damaging Het
Aen G A 7: 78,557,050 (GRCm39) M299I probably damaging Het
Akap3 A T 6: 126,842,842 (GRCm39) E487V possibly damaging Het
Bicd2 T C 13: 49,531,792 (GRCm39) S271P probably damaging Het
Cfap206 C T 4: 34,721,562 (GRCm39) S162N probably damaging Het
Cma1 A G 14: 56,180,154 (GRCm39) S71P probably benign Het
Cspp1 T C 1: 10,158,370 (GRCm39) Y494H probably damaging Het
Cyp39a1 A G 17: 43,993,913 (GRCm39) K191R probably benign Het
Efr3a G A 15: 65,724,927 (GRCm39) V507I probably benign Het
Fam178b C T 1: 36,603,484 (GRCm39) R489Q possibly damaging Het
Kcnj4 A G 15: 79,368,780 (GRCm39) L400P probably benign Het
Kif27 A G 13: 58,491,907 (GRCm39) Y411H probably damaging Het
Mstn A T 1: 53,101,156 (GRCm39) I78L possibly damaging Het
Nrap T C 19: 56,317,516 (GRCm39) D1377G probably damaging Het
Pramel5 T G 4: 143,997,842 (GRCm39) Y467S probably damaging Het
Prkg1 G A 19: 30,546,743 (GRCm39) probably benign Het
Rbfox1 A C 16: 7,124,307 (GRCm39) S219R possibly damaging Het
Rfng T C 11: 120,674,778 (GRCm39) N71D probably damaging Het
Rp1 T C 1: 4,415,461 (GRCm39) I1884V probably damaging Het
Rptn T A 3: 93,305,483 (GRCm39) Y939N possibly damaging Het
Sart1 A G 19: 5,433,979 (GRCm39) V322A probably benign Het
Shank3 T C 15: 89,433,619 (GRCm39) S1455P probably damaging Het
Smc5 T A 19: 23,208,965 (GRCm39) R703W possibly damaging Het
Sptan1 G A 2: 29,904,185 (GRCm39) probably null Het
Tecta T C 9: 42,306,299 (GRCm39) D43G probably damaging Het
Trac A G 14: 54,458,223 (GRCm39) T82A probably benign Het
Trank1 A G 9: 111,195,861 (GRCm39) N1295S probably damaging Het
Ttc36 T C 9: 44,712,887 (GRCm39) probably null Het
Utp18 A T 11: 93,760,674 (GRCm39) S384T possibly damaging Het
Vmn1r64 C A 7: 5,886,941 (GRCm39) A201S probably benign Het
Vmn2r26 A T 6: 124,038,566 (GRCm39) I714F probably benign Het
Vps54 T A 11: 21,262,268 (GRCm39) V626D probably damaging Het
Wapl T C 14: 34,467,579 (GRCm39) probably benign Het
Yars2 C T 16: 16,124,406 (GRCm39) R338* probably null Het
Other mutations in Tmem67
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00569:Tmem67 APN 4 12,061,826 (GRCm39) missense probably damaging 0.98
IGL00768:Tmem67 APN 4 12,055,029 (GRCm39) critical splice donor site probably null
IGL00813:Tmem67 APN 4 12,058,587 (GRCm39) splice site probably benign
IGL01088:Tmem67 APN 4 12,063,126 (GRCm39) missense probably damaging 1.00
IGL01353:Tmem67 APN 4 12,079,895 (GRCm39) missense probably damaging 1.00
IGL01490:Tmem67 APN 4 12,057,422 (GRCm39) splice site probably benign
IGL01885:Tmem67 APN 4 12,057,389 (GRCm39) missense probably damaging 1.00
IGL02061:Tmem67 APN 4 12,053,526 (GRCm39) missense probably damaging 1.00
IGL02151:Tmem67 APN 4 12,068,882 (GRCm39) missense probably benign 0.35
IGL02166:Tmem67 APN 4 12,047,313 (GRCm39) missense possibly damaging 0.90
IGL02243:Tmem67 APN 4 12,070,584 (GRCm39) missense possibly damaging 0.93
IGL02517:Tmem67 APN 4 12,069,463 (GRCm39) missense possibly damaging 0.67
IGL02736:Tmem67 APN 4 12,045,789 (GRCm39) splice site probably null
R0282:Tmem67 UTSW 4 12,087,930 (GRCm39) missense probably damaging 0.99
R0514:Tmem67 UTSW 4 12,089,317 (GRCm39) missense probably benign
R1221:Tmem67 UTSW 4 12,045,871 (GRCm39) missense possibly damaging 0.92
R1301:Tmem67 UTSW 4 12,089,400 (GRCm39) unclassified probably benign
R1581:Tmem67 UTSW 4 12,047,814 (GRCm39) missense probably damaging 1.00
R1680:Tmem67 UTSW 4 12,087,840 (GRCm39) missense probably benign 0.00
R1804:Tmem67 UTSW 4 12,045,789 (GRCm39) splice site probably null
R2174:Tmem67 UTSW 4 12,063,730 (GRCm39) nonsense probably null
R2191:Tmem67 UTSW 4 12,069,413 (GRCm39) critical splice donor site probably null
R2246:Tmem67 UTSW 4 12,040,651 (GRCm39) missense probably damaging 1.00
R2566:Tmem67 UTSW 4 12,079,918 (GRCm39) missense probably damaging 0.99
R3409:Tmem67 UTSW 4 12,073,952 (GRCm39) missense probably benign 0.00
R3410:Tmem67 UTSW 4 12,073,952 (GRCm39) missense probably benign 0.00
R4078:Tmem67 UTSW 4 12,040,633 (GRCm39) critical splice donor site probably null
R4282:Tmem67 UTSW 4 12,073,922 (GRCm39) missense probably damaging 0.99
R4429:Tmem67 UTSW 4 12,051,473 (GRCm39) missense possibly damaging 0.52
R4430:Tmem67 UTSW 4 12,051,473 (GRCm39) missense possibly damaging 0.52
R4431:Tmem67 UTSW 4 12,051,473 (GRCm39) missense possibly damaging 0.52
R4734:Tmem67 UTSW 4 12,063,158 (GRCm39) missense probably benign 0.00
R4856:Tmem67 UTSW 4 12,089,416 (GRCm39) unclassified probably benign
R4865:Tmem67 UTSW 4 12,070,262 (GRCm39) missense probably benign 0.01
R5056:Tmem67 UTSW 4 12,070,471 (GRCm39) missense probably benign 0.29
R5575:Tmem67 UTSW 4 12,047,886 (GRCm39) missense possibly damaging 0.93
R5614:Tmem67 UTSW 4 12,061,755 (GRCm39) missense possibly damaging 0.54
R6030:Tmem67 UTSW 4 12,063,799 (GRCm39) missense probably benign 0.01
R6030:Tmem67 UTSW 4 12,063,799 (GRCm39) missense probably benign 0.01
R6182:Tmem67 UTSW 4 12,051,402 (GRCm39) missense probably benign 0.05
R6562:Tmem67 UTSW 4 12,053,445 (GRCm39) critical splice donor site probably null
R6574:Tmem67 UTSW 4 12,063,086 (GRCm39) missense possibly damaging 0.70
R6696:Tmem67 UTSW 4 12,061,754 (GRCm39) critical splice donor site probably null
R6824:Tmem67 UTSW 4 12,051,449 (GRCm39) missense probably damaging 1.00
R7028:Tmem67 UTSW 4 12,075,484 (GRCm39) missense probably benign 0.12
R7174:Tmem67 UTSW 4 12,077,337 (GRCm39) missense possibly damaging 0.82
R7369:Tmem67 UTSW 4 12,053,535 (GRCm39) missense probably damaging 1.00
R7638:Tmem67 UTSW 4 12,079,883 (GRCm39) missense probably benign 0.17
R7671:Tmem67 UTSW 4 12,063,698 (GRCm39) missense probably benign 0.00
R7736:Tmem67 UTSW 4 12,053,455 (GRCm39) missense probably benign 0.09
R7920:Tmem67 UTSW 4 12,089,284 (GRCm39) critical splice donor site probably null
R7981:Tmem67 UTSW 4 12,070,592 (GRCm39) missense probably damaging 1.00
R8005:Tmem67 UTSW 4 12,047,821 (GRCm39) missense probably damaging 1.00
R8086:Tmem67 UTSW 4 12,040,738 (GRCm39) missense probably damaging 1.00
R8196:Tmem67 UTSW 4 12,075,661 (GRCm39) missense probably benign 0.00
R8344:Tmem67 UTSW 4 12,058,576 (GRCm39) missense probably benign 0.00
R8350:Tmem67 UTSW 4 12,087,891 (GRCm39) missense probably benign 0.07
R8450:Tmem67 UTSW 4 12,087,891 (GRCm39) missense probably benign 0.07
R8899:Tmem67 UTSW 4 12,055,038 (GRCm39) missense probably damaging 0.99
R8992:Tmem67 UTSW 4 12,058,559 (GRCm39) missense probably damaging 1.00
R9281:Tmem67 UTSW 4 12,079,962 (GRCm39) missense possibly damaging 0.90
R9335:Tmem67 UTSW 4 12,040,640 (GRCm39) nonsense probably null
R9539:Tmem67 UTSW 4 12,045,815 (GRCm39) missense probably damaging 1.00
R9539:Tmem67 UTSW 4 12,045,814 (GRCm39) missense probably damaging 1.00
Z1176:Tmem67 UTSW 4 12,087,983 (GRCm39) missense probably benign 0.01
Posted On 2013-06-21