Incidental Mutation 'IGL02750:Tbc1d32'
ID 306254
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tbc1d32
Ensembl Gene ENSMUSG00000038122
Gene Name TBC1 domain family, member 32
Synonyms D630037F22Rik, Bromi, b2b2284Clo, C6orf170
Accession Numbers
Essential gene? Probably essential (E-score: 0.902) question?
Stock # IGL02750
Quality Score
Status
Chromosome 10
Chromosomal Location 55890389-56104785 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 56074587 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 209 (T209A)
Ref Sequence ENSEMBL: ENSMUSP00000097328 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000099739]
AlphaFold Q3URV1
Predicted Effect possibly damaging
Transcript: ENSMUST00000099739
AA Change: T209A

PolyPhen 2 Score 0.955 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000097328
Gene: ENSMUSG00000038122
AA Change: T209A

DomainStartEndE-ValueType
Pfam:BROMI 12 1293 N/A PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000219385
Coding Region Coverage
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: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Amotl1 T C 9: 14,460,087 (GRCm39) K884R probably benign Het
Ano3 T A 2: 110,496,329 (GRCm39) probably benign Het
Baz2b C A 2: 59,799,002 (GRCm39) S374I possibly damaging Het
Brd4 G A 17: 32,417,353 (GRCm39) probably benign Het
Cd3g C A 9: 44,882,608 (GRCm39) probably benign Het
Ckmt1 C T 2: 121,194,096 (GRCm39) probably benign Het
Clcnkb T C 4: 141,132,673 (GRCm39) probably null Het
Dkkl1 C T 7: 44,859,536 (GRCm39) probably null Het
Ehmt1 G A 2: 24,753,881 (GRCm39) T161I probably damaging Het
Ern2 A G 7: 121,780,629 (GRCm39) probably benign Het
Fmnl2 T C 2: 52,993,709 (GRCm39) I368T possibly damaging Het
Gabra5 G T 7: 57,157,739 (GRCm39) S25Y probably benign Het
Gemin7 C T 7: 19,299,344 (GRCm39) V84M probably null Het
Gm17654 A G 14: 43,815,656 (GRCm39) probably benign Het
Grk6 T C 13: 55,599,356 (GRCm39) F186S probably damaging Het
Gtf2ird2 A G 5: 134,245,731 (GRCm39) H663R probably damaging Het
Gtf3c1 T A 7: 125,275,684 (GRCm39) I581F probably damaging Het
Herc2 T A 7: 55,854,127 (GRCm39) probably benign Het
Hook3 A T 8: 26,585,782 (GRCm39) probably benign Het
Ints4 T A 7: 97,166,964 (GRCm39) probably null Het
Kpna6 T C 4: 129,555,170 (GRCm39) N20D probably damaging Het
Krtap29-1 T C 11: 99,869,510 (GRCm39) S124G probably benign Het
Krtap4-16 C A 11: 99,742,106 (GRCm39) R98L possibly damaging Het
Lrrc28 T C 7: 67,181,431 (GRCm39) D268G probably damaging Het
Mcm6 T A 1: 128,271,209 (GRCm39) Q470L probably damaging Het
Neb T C 2: 52,181,067 (GRCm39) H1180R probably benign Het
Nxpe3 C A 16: 55,680,738 (GRCm39) V285L probably benign Het
Or10al2 T A 17: 37,983,500 (GRCm39) C195* probably null Het
Or14a260 T A 7: 85,984,752 (GRCm39) N284I probably damaging Het
Or4k37 A G 2: 111,159,633 (GRCm39) R290G probably damaging Het
Pdcd1 A G 1: 93,967,269 (GRCm39) probably benign Het
Pnkp A G 7: 44,509,611 (GRCm39) probably benign Het
Pou4f2 A T 8: 79,161,692 (GRCm39) F304I probably damaging Het
Rita1 G A 5: 120,747,716 (GRCm39) T194M possibly damaging Het
Rnpc3 T C 3: 113,415,588 (GRCm39) T150A possibly damaging Het
Sema3b T C 9: 107,480,363 (GRCm39) T168A probably benign Het
Skint5 T A 4: 113,396,559 (GRCm39) M1205L unknown Het
Sox13 A C 1: 133,311,534 (GRCm39) I566S probably benign Het
Tonsl G T 15: 76,517,589 (GRCm39) P710Q probably damaging Het
Trpm5 T C 7: 142,628,221 (GRCm39) H1018R possibly damaging Het
Ubr2 A T 17: 47,280,208 (GRCm39) M647K probably benign Het
Ubr7 A T 12: 102,737,537 (GRCm39) T395S possibly damaging Het
Uri1 G A 7: 37,666,906 (GRCm39) R176* probably null Het
Vmn1r188 A T 13: 22,272,900 (GRCm39) I285F probably damaging Het
Vmn2r116 T A 17: 23,616,608 (GRCm39) probably benign Het
Vmn2r2 C A 3: 64,024,823 (GRCm39) C586F probably damaging Het
Vmn2r96 T A 17: 18,802,851 (GRCm39) W62R probably benign Het
Zfp24 A T 18: 24,150,410 (GRCm39) S167T possibly damaging Het
Zfp462 A G 4: 55,060,236 (GRCm39) K1254R probably null Het
Other mutations in Tbc1d32
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00490:Tbc1d32 APN 10 56,031,861 (GRCm39) missense probably damaging 1.00
IGL00535:Tbc1d32 APN 10 56,091,221 (GRCm39) splice site probably benign
IGL00835:Tbc1d32 APN 10 55,965,942 (GRCm39) splice site probably benign
IGL01013:Tbc1d32 APN 10 56,078,055 (GRCm39) splice site probably null
IGL01306:Tbc1d32 APN 10 56,056,620 (GRCm39) missense probably benign 0.14
IGL01452:Tbc1d32 APN 10 56,091,176 (GRCm39) missense possibly damaging 0.71
IGL01668:Tbc1d32 APN 10 55,999,673 (GRCm39) missense probably benign 0.37
IGL02008:Tbc1d32 APN 10 56,027,871 (GRCm39) missense possibly damaging 0.71
IGL02076:Tbc1d32 APN 10 55,964,499 (GRCm39) missense possibly damaging 0.93
IGL02348:Tbc1d32 APN 10 56,100,715 (GRCm39) missense probably benign 0.06
IGL02476:Tbc1d32 APN 10 56,074,638 (GRCm39) missense possibly damaging 0.71
IGL02893:Tbc1d32 APN 10 55,893,799 (GRCm39) missense probably damaging 0.98
ANU23:Tbc1d32 UTSW 10 56,056,620 (GRCm39) missense probably benign 0.14
P0035:Tbc1d32 UTSW 10 56,074,535 (GRCm39) missense probably damaging 1.00
R0118:Tbc1d32 UTSW 10 55,893,701 (GRCm39) missense probably benign 0.02
R0446:Tbc1d32 UTSW 10 56,068,994 (GRCm39) missense possibly damaging 0.93
R0567:Tbc1d32 UTSW 10 56,050,059 (GRCm39) missense possibly damaging 0.71
R0615:Tbc1d32 UTSW 10 56,100,736 (GRCm39) missense probably benign 0.33
R0679:Tbc1d32 UTSW 10 56,056,672 (GRCm39) missense probably damaging 0.99
R0943:Tbc1d32 UTSW 10 56,037,243 (GRCm39) missense probably benign
R1432:Tbc1d32 UTSW 10 55,893,758 (GRCm39) missense probably damaging 0.99
R1454:Tbc1d32 UTSW 10 56,053,575 (GRCm39) splice site probably benign
R1708:Tbc1d32 UTSW 10 56,027,865 (GRCm39) missense possibly damaging 0.84
R1834:Tbc1d32 UTSW 10 55,893,700 (GRCm39) missense probably benign 0.00
R1860:Tbc1d32 UTSW 10 55,999,633 (GRCm39) nonsense probably null
R2208:Tbc1d32 UTSW 10 56,026,888 (GRCm39) critical splice donor site probably null
R3012:Tbc1d32 UTSW 10 56,050,011 (GRCm39) missense probably benign 0.08
R3736:Tbc1d32 UTSW 10 56,005,189 (GRCm39) missense probably damaging 0.99
R4184:Tbc1d32 UTSW 10 56,100,676 (GRCm39) missense probably benign 0.15
R4259:Tbc1d32 UTSW 10 55,925,867 (GRCm39) missense probably damaging 0.97
R4617:Tbc1d32 UTSW 10 56,047,000 (GRCm39) missense possibly damaging 0.92
R4700:Tbc1d32 UTSW 10 56,100,745 (GRCm39) missense probably damaging 0.98
R4794:Tbc1d32 UTSW 10 56,072,932 (GRCm39) missense possibly damaging 0.92
R4879:Tbc1d32 UTSW 10 55,925,125 (GRCm39) splice site probably null
R5031:Tbc1d32 UTSW 10 55,999,627 (GRCm39) missense probably damaging 0.98
R5036:Tbc1d32 UTSW 10 56,071,500 (GRCm39) nonsense probably null
R5276:Tbc1d32 UTSW 10 56,027,914 (GRCm39) missense probably damaging 0.99
R5358:Tbc1d32 UTSW 10 56,047,033 (GRCm39) missense possibly damaging 0.93
R5429:Tbc1d32 UTSW 10 55,904,089 (GRCm39) missense probably damaging 0.99
R5435:Tbc1d32 UTSW 10 55,916,246 (GRCm39) missense probably damaging 0.98
R5451:Tbc1d32 UTSW 10 56,071,571 (GRCm39) missense possibly damaging 0.95
R5607:Tbc1d32 UTSW 10 56,005,246 (GRCm39) missense possibly damaging 0.92
R5642:Tbc1d32 UTSW 10 56,026,973 (GRCm39) missense possibly damaging 0.82
R5732:Tbc1d32 UTSW 10 55,964,489 (GRCm39) missense probably damaging 0.99
R5795:Tbc1d32 UTSW 10 56,091,158 (GRCm39) missense possibly damaging 0.71
R5988:Tbc1d32 UTSW 10 55,964,433 (GRCm39) missense probably damaging 0.98
R6054:Tbc1d32 UTSW 10 56,038,304 (GRCm39) missense possibly damaging 0.95
R6103:Tbc1d32 UTSW 10 56,026,979 (GRCm39) missense probably damaging 0.99
R6277:Tbc1d32 UTSW 10 56,071,525 (GRCm39) missense probably benign
R6422:Tbc1d32 UTSW 10 55,904,157 (GRCm39) nonsense probably null
R6508:Tbc1d32 UTSW 10 56,100,786 (GRCm39) missense probably damaging 0.98
R6859:Tbc1d32 UTSW 10 56,056,626 (GRCm39) missense probably damaging 0.98
R6887:Tbc1d32 UTSW 10 56,027,907 (GRCm39) nonsense probably null
R7012:Tbc1d32 UTSW 10 56,100,820 (GRCm39) missense probably damaging 0.99
R7253:Tbc1d32 UTSW 10 56,074,537 (GRCm39) missense probably benign
R7288:Tbc1d32 UTSW 10 55,927,483 (GRCm39) critical splice donor site probably null
R7599:Tbc1d32 UTSW 10 56,027,929 (GRCm39) missense possibly damaging 0.92
R8338:Tbc1d32 UTSW 10 55,904,173 (GRCm39) missense possibly damaging 0.85
R8814:Tbc1d32 UTSW 10 56,072,688 (GRCm39) missense possibly damaging 0.93
R8864:Tbc1d32 UTSW 10 55,963,655 (GRCm39) missense probably benign 0.01
R9018:Tbc1d32 UTSW 10 55,948,693 (GRCm39) missense probably benign 0.02
R9030:Tbc1d32 UTSW 10 56,037,241 (GRCm39) missense possibly damaging 0.92
R9530:Tbc1d32 UTSW 10 56,072,507 (GRCm39) missense probably damaging 0.98
R9616:Tbc1d32 UTSW 10 56,037,246 (GRCm39) missense possibly damaging 0.85
Z1188:Tbc1d32 UTSW 10 56,046,977 (GRCm39) missense probably damaging 0.99
Posted On 2015-04-16