Incidental Mutation 'R5429:Tbc1d32'
ID 427074
Institutional Source Beutler Lab
Gene Symbol Tbc1d32
Ensembl Gene ENSMUSG00000038122
Gene Name TBC1 domain family, member 32
Synonyms D630037F22Rik, C6orf170, Bromi, b2b2284Clo
MMRRC Submission 042995-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.925) question?
Stock # R5429 (G1)
Quality Score 225
Status Not validated
Chromosome 10
Chromosomal Location 56014293-56228689 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to C at 56027993 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 1226 (D1226G)
Ref Sequence ENSEMBL: ENSMUSP00000097328 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000099739]
AlphaFold Q3URV1
Predicted Effect probably damaging
Transcript: ENSMUST00000099739
AA Change: D1226G

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000097328
Gene: ENSMUSG00000038122
AA Change: D1226G

DomainStartEndE-ValueType
Pfam:BROMI 12 1293 N/A PFAM
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 95.0%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a TBC-domain containing protein. Studies of a similar protein in mouse and zebrafish suggest that the encoded protein is involved in sonic hedgehog signaling, and that it interacts with and stabilizes cell cycle-related kinase. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014]
PHENOTYPE: Mice homozygous for a gene trap allele or ENU induced mutation exhibit exencephaly and poor eye development. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2410141K09Rik G A 13: 66,431,828 (GRCm38) P199S probably benign Het
Akap13 T G 7: 75,602,904 (GRCm38) S261A possibly damaging Het
Ankrd34a G A 3: 96,597,521 (GRCm38) G14R probably damaging Het
Auts2 G A 5: 131,472,335 (GRCm38) T289M probably damaging Het
Btaf1 G A 19: 36,994,857 (GRCm38) V1331I possibly damaging Het
Ciz1 T A 2: 32,376,043 (GRCm38) I609K possibly damaging Het
Clca3b C T 3: 144,846,459 (GRCm38) V154I probably damaging Het
Csde1 A G 3: 103,052,841 (GRCm38) T564A possibly damaging Het
Csrnp2 A G 15: 100,482,054 (GRCm38) V452A probably benign Het
Ctnnd1 C T 2: 84,616,789 (GRCm38) V371M probably damaging Het
Dock6 T C 9: 21,832,881 (GRCm38) D677G probably damaging Het
Filip1l A T 16: 57,570,255 (GRCm38) E402V probably damaging Het
Gad1-ps G A 10: 99,445,147 (GRCm38) noncoding transcript Het
Ghr G A 15: 3,388,675 (GRCm38) Q37* probably null Het
Gm10770 C T 2: 150,179,423 (GRCm38) R58H probably benign Het
Gm12789 T C 4: 101,989,961 (GRCm38) Y148H possibly damaging Het
Herc4 T A 10: 63,275,013 (GRCm38) N234K probably benign Het
Itih3 A G 14: 30,923,521 (GRCm38) V10A probably benign Het
Kat14 T A 2: 144,393,323 (GRCm38) D234E probably benign Het
Kif13a A G 13: 46,772,769 (GRCm38) probably null Het
Kif2b A G 11: 91,577,229 (GRCm38) V76A probably benign Het
Mboat1 A G 13: 30,219,667 (GRCm38) T150A probably benign Het
Mfsd1 T A 3: 67,599,960 (GRCm38) L398H probably damaging Het
Myt1l G A 12: 29,832,332 (GRCm38) G509R unknown Het
Nfx1 T C 4: 41,004,343 (GRCm38) C705R probably damaging Het
Olfr318 T A 11: 58,720,524 (GRCm38) N175Y probably damaging Het
Olfr60 A G 7: 140,345,273 (GRCm38) F239L possibly damaging Het
Pcdh10 T C 3: 45,384,200 (GRCm38) S931P probably benign Het
Pdpk1 T C 17: 24,091,560 (GRCm38) E205G probably benign Het
Ppp2r2a A T 14: 67,023,756 (GRCm38) F172I probably damaging Het
Ppp2r5e T A 12: 75,453,763 (GRCm38) D452V probably damaging Het
Rims2 A T 15: 39,345,355 (GRCm38) T185S probably damaging Het
Rpusd4 T C 9: 35,272,602 (GRCm38) V209A probably benign Het
Safb T C 17: 56,588,822 (GRCm38) V20A probably benign Het
Scaf8 C A 17: 3,197,110 (GRCm38) P903T probably benign Het
Slc30a7 A G 3: 116,006,925 (GRCm38) S31P possibly damaging Het
Slc9b1 T C 3: 135,373,263 (GRCm38) probably null Het
Sntb1 C G 15: 55,642,795 (GRCm38) G461R probably damaging Het
Tlnrd1 G T 7: 83,882,314 (GRCm38) T303N probably damaging Het
Tmc1 G T 19: 20,789,622 (GRCm38) N738K possibly damaging Het
Tmem41a A G 16: 21,934,856 (GRCm38) I255T probably benign Het
Trim7 G A 11: 48,849,955 (GRCm38) C293Y probably damaging Het
Trpc6 C T 9: 8,634,074 (GRCm38) Q385* probably null Het
Ttc39b A G 4: 83,243,953 (GRCm38) I330T possibly damaging Het
Vil1 C T 1: 74,432,331 (GRCm38) T757I probably benign Het
Zfp462 T C 4: 55,060,077 (GRCm38) V1201A probably damaging Het
Zfp473 T A 7: 44,732,848 (GRCm38) E686V possibly damaging Het
Other mutations in Tbc1d32
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00490:Tbc1d32 APN 10 56,155,765 (GRCm38) missense probably damaging 1.00
IGL00535:Tbc1d32 APN 10 56,215,125 (GRCm38) splice site probably benign
IGL00835:Tbc1d32 APN 10 56,089,846 (GRCm38) splice site probably benign
IGL01013:Tbc1d32 APN 10 56,201,959 (GRCm38) splice site probably null
IGL01306:Tbc1d32 APN 10 56,180,524 (GRCm38) missense probably benign 0.14
IGL01452:Tbc1d32 APN 10 56,215,080 (GRCm38) missense possibly damaging 0.71
IGL01668:Tbc1d32 APN 10 56,123,577 (GRCm38) missense probably benign 0.37
IGL02008:Tbc1d32 APN 10 56,151,775 (GRCm38) missense possibly damaging 0.71
IGL02076:Tbc1d32 APN 10 56,088,403 (GRCm38) missense possibly damaging 0.93
IGL02348:Tbc1d32 APN 10 56,224,619 (GRCm38) missense probably benign 0.06
IGL02476:Tbc1d32 APN 10 56,198,542 (GRCm38) missense possibly damaging 0.71
IGL02750:Tbc1d32 APN 10 56,198,491 (GRCm38) missense possibly damaging 0.95
IGL02893:Tbc1d32 APN 10 56,017,703 (GRCm38) missense probably damaging 0.98
ANU23:Tbc1d32 UTSW 10 56,180,524 (GRCm38) missense probably benign 0.14
P0035:Tbc1d32 UTSW 10 56,198,439 (GRCm38) missense probably damaging 1.00
R0118:Tbc1d32 UTSW 10 56,017,605 (GRCm38) missense probably benign 0.02
R0446:Tbc1d32 UTSW 10 56,192,898 (GRCm38) missense possibly damaging 0.93
R0567:Tbc1d32 UTSW 10 56,173,963 (GRCm38) missense possibly damaging 0.71
R0615:Tbc1d32 UTSW 10 56,224,640 (GRCm38) missense probably benign 0.33
R0679:Tbc1d32 UTSW 10 56,180,576 (GRCm38) missense probably damaging 0.99
R0943:Tbc1d32 UTSW 10 56,161,147 (GRCm38) missense probably benign
R1432:Tbc1d32 UTSW 10 56,017,662 (GRCm38) missense probably damaging 0.99
R1454:Tbc1d32 UTSW 10 56,177,479 (GRCm38) splice site probably benign
R1708:Tbc1d32 UTSW 10 56,151,769 (GRCm38) missense possibly damaging 0.84
R1834:Tbc1d32 UTSW 10 56,017,604 (GRCm38) missense probably benign 0.00
R1860:Tbc1d32 UTSW 10 56,123,537 (GRCm38) nonsense probably null
R2208:Tbc1d32 UTSW 10 56,150,792 (GRCm38) critical splice donor site probably null
R3012:Tbc1d32 UTSW 10 56,173,915 (GRCm38) missense probably benign 0.08
R3736:Tbc1d32 UTSW 10 56,129,093 (GRCm38) missense probably damaging 0.99
R4184:Tbc1d32 UTSW 10 56,224,580 (GRCm38) missense probably benign 0.15
R4259:Tbc1d32 UTSW 10 56,049,771 (GRCm38) missense probably damaging 0.97
R4617:Tbc1d32 UTSW 10 56,170,904 (GRCm38) missense possibly damaging 0.92
R4700:Tbc1d32 UTSW 10 56,224,649 (GRCm38) missense probably damaging 0.98
R4794:Tbc1d32 UTSW 10 56,196,836 (GRCm38) missense possibly damaging 0.92
R4879:Tbc1d32 UTSW 10 56,049,029 (GRCm38) splice site probably null
R5031:Tbc1d32 UTSW 10 56,123,531 (GRCm38) missense probably damaging 0.98
R5036:Tbc1d32 UTSW 10 56,195,404 (GRCm38) nonsense probably null
R5276:Tbc1d32 UTSW 10 56,151,818 (GRCm38) missense probably damaging 0.99
R5358:Tbc1d32 UTSW 10 56,170,937 (GRCm38) missense possibly damaging 0.93
R5435:Tbc1d32 UTSW 10 56,040,150 (GRCm38) missense probably damaging 0.98
R5451:Tbc1d32 UTSW 10 56,195,475 (GRCm38) missense possibly damaging 0.95
R5607:Tbc1d32 UTSW 10 56,129,150 (GRCm38) missense possibly damaging 0.92
R5642:Tbc1d32 UTSW 10 56,150,877 (GRCm38) missense possibly damaging 0.82
R5732:Tbc1d32 UTSW 10 56,088,393 (GRCm38) missense probably damaging 0.99
R5795:Tbc1d32 UTSW 10 56,215,062 (GRCm38) missense possibly damaging 0.71
R5988:Tbc1d32 UTSW 10 56,088,337 (GRCm38) missense probably damaging 0.98
R6054:Tbc1d32 UTSW 10 56,162,208 (GRCm38) missense possibly damaging 0.95
R6103:Tbc1d32 UTSW 10 56,150,883 (GRCm38) missense probably damaging 0.99
R6277:Tbc1d32 UTSW 10 56,195,429 (GRCm38) missense probably benign
R6422:Tbc1d32 UTSW 10 56,028,061 (GRCm38) nonsense probably null
R6508:Tbc1d32 UTSW 10 56,224,690 (GRCm38) missense probably damaging 0.98
R6859:Tbc1d32 UTSW 10 56,180,530 (GRCm38) missense probably damaging 0.98
R6887:Tbc1d32 UTSW 10 56,151,811 (GRCm38) nonsense probably null
R7012:Tbc1d32 UTSW 10 56,224,724 (GRCm38) missense probably damaging 0.99
R7253:Tbc1d32 UTSW 10 56,198,441 (GRCm38) missense probably benign
R7288:Tbc1d32 UTSW 10 56,051,387 (GRCm38) critical splice donor site probably null
R7599:Tbc1d32 UTSW 10 56,151,833 (GRCm38) missense possibly damaging 0.92
R8338:Tbc1d32 UTSW 10 56,028,077 (GRCm38) missense possibly damaging 0.85
R8814:Tbc1d32 UTSW 10 56,196,592 (GRCm38) missense possibly damaging 0.93
R8864:Tbc1d32 UTSW 10 56,087,559 (GRCm38) missense probably benign 0.01
R9018:Tbc1d32 UTSW 10 56,072,597 (GRCm38) missense probably benign 0.02
R9030:Tbc1d32 UTSW 10 56,161,145 (GRCm38) missense possibly damaging 0.92
R9530:Tbc1d32 UTSW 10 56,196,411 (GRCm38) missense probably damaging 0.98
R9616:Tbc1d32 UTSW 10 56,161,150 (GRCm38) missense possibly damaging 0.85
Z1188:Tbc1d32 UTSW 10 56,170,881 (GRCm38) missense probably damaging 0.99
Predicted Primers PCR Primer
(F):5'- CAGAGTCTTGATAACATTTGACAGT -3'
(R):5'- TCATGTATTACCGTTCAAGACTTTT -3'

Sequencing Primer
(F):5'- AATCCTCTGGAACTGTGAGC -3'
(R):5'- GACTTTTTAATAAGCAAGTGTGGC -3'
Posted On 2016-09-01