Incidental Mutation 'IGL02243:Tmem67'
ID 286055
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 # IGL02243
Quality Score
Status
Chromosome 4
Chromosomal Location 12039355-12090020 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 12070584 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Leucine at position 314 (S314L)
Ref Sequence ENSEMBL: ENSMUSP00000103928 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000050686] [ENSMUST00000108293]
AlphaFold no structure available at present
Predicted Effect possibly damaging
Transcript: ENSMUST00000050686
AA Change: S248L

PolyPhen 2 Score 0.696 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000052644
Gene: ENSMUSG00000049488
AA Change: S248L

DomainStartEndE-ValueType
low complexity region 17 23 N/A INTRINSIC
Pfam:Meckelin 166 995 N/A PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000108293
AA Change: S314L

PolyPhen 2 Score 0.933 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000103928
Gene: ENSMUSG00000049488
AA Change: S314L

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000146140
Predicted Effect noncoding transcript
Transcript: ENSMUST00000147746
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: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Apc2 A G 10: 80,138,175 (GRCm39) Y87C probably damaging Het
Armc3 G A 2: 19,290,948 (GRCm39) probably null Het
Brsk2 T C 7: 141,547,036 (GRCm39) F493S probably damaging Het
Cd19 T C 7: 126,009,965 (GRCm39) probably null Het
Cfap91 T C 16: 38,162,142 (GRCm39) probably benign Het
Chd2 T C 7: 73,147,456 (GRCm39) probably null Het
Csgalnact1 C A 8: 68,854,144 (GRCm39) G219V probably damaging Het
Ddx19a T G 8: 111,703,088 (GRCm39) I450L probably benign Het
Edn2 G A 4: 120,019,229 (GRCm39) probably null Het
Elp2 G A 18: 24,755,663 (GRCm39) R470Q probably benign Het
Fhdc1 T G 3: 84,381,947 (GRCm39) M1L possibly damaging Het
Gba2 A T 4: 43,568,719 (GRCm39) I619N probably benign Het
Glce A G 9: 61,977,422 (GRCm39) F154S probably damaging Het
Gm3476 A T 14: 6,122,811 (GRCm38) C195* probably null Het
Hsp90aa1 A G 12: 110,661,525 (GRCm39) S164P probably damaging Het
Iqcg T C 16: 32,865,962 (GRCm39) D127G probably damaging Het
Jag2 G A 12: 112,879,965 (GRCm39) T381I possibly damaging Het
Krt16 A T 11: 100,137,162 (GRCm39) probably benign Het
Lhx2 T A 2: 38,243,531 (GRCm39) probably benign Het
Lrrc2 A T 9: 110,799,125 (GRCm39) N158I probably damaging Het
M1ap C T 6: 83,003,269 (GRCm39) P389S probably damaging Het
Masp2 A T 4: 148,687,525 (GRCm39) D104V probably benign Het
Met G A 6: 17,549,093 (GRCm39) V982I probably damaging Het
Msh2 T A 17: 87,985,796 (GRCm39) probably benign Het
Myh9 A G 15: 77,651,682 (GRCm39) L1509P probably damaging Het
Mylk2 A G 2: 152,762,473 (GRCm39) H554R probably damaging Het
Oxr1 T G 15: 41,399,097 (GRCm39) probably benign Het
Pdp1 A T 4: 11,961,873 (GRCm39) V146D probably benign Het
Pdzrn4 A T 15: 92,668,577 (GRCm39) M910L probably benign Het
Prl2a1 T C 13: 27,991,400 (GRCm39) probably benign Het
Rapgef6 C T 11: 54,567,226 (GRCm39) P1136S probably damaging Het
Rasgef1c A T 11: 49,848,217 (GRCm39) S69C possibly damaging Het
Rnaseh1 C T 12: 28,705,631 (GRCm39) R152W probably damaging Het
Sele T C 1: 163,880,537 (GRCm39) V373A probably benign Het
Traf4 T C 11: 78,051,343 (GRCm39) E271G probably benign Het
Trim39 T C 17: 36,571,276 (GRCm39) D494G probably damaging Het
Virma G A 4: 11,546,031 (GRCm39) R1673Q probably damaging 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
IGL01070:Tmem67 APN 4 12,054,750 (GRCm39) missense probably benign 0.20
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
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 2015-04-16