Incidental Mutation 'IGL02348:Tbc1d32'
ID 289388
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 # IGL02348
Quality Score
Status
Chromosome 10
Chromosomal Location 55890389-56104785 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 56100715 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 88 (S88P)
Ref Sequence ENSEMBL: ENSMUSP00000097328 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000099739]
AlphaFold Q3URV1
Predicted Effect probably benign
Transcript: ENSMUST00000099739
AA Change: S88P

PolyPhen 2 Score 0.060 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000097328
Gene: ENSMUSG00000038122
AA Change: S88P

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: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Akap12 G A 10: 4,304,722 (GRCm39) D511N probably damaging Het
Akt3 T A 1: 176,886,952 (GRCm39) D299V probably damaging Het
Arfgef3 G A 10: 18,467,095 (GRCm39) P2035L probably benign Het
Atp13a3 C T 16: 30,170,046 (GRCm39) probably null Het
Capn9 C A 8: 125,321,416 (GRCm39) P151T probably damaging Het
Csrnp1 T A 9: 119,801,709 (GRCm39) D450V probably damaging Het
Ctrb1 C T 8: 112,413,762 (GRCm39) A201T possibly damaging Het
Erp27 T C 6: 136,888,544 (GRCm39) T145A probably damaging Het
Fads2b T C 2: 85,323,640 (GRCm39) I298V possibly damaging Het
Fanca A T 8: 124,032,002 (GRCm39) L256Q probably damaging Het
Fars2 G A 13: 36,721,354 (GRCm39) V433I probably benign Het
Fbxo9 T A 9: 78,016,289 (GRCm39) M1L probably benign Het
Fcnb C A 2: 27,974,842 (GRCm39) V10F possibly damaging Het
Gad2 C T 2: 22,519,405 (GRCm39) H175Y probably damaging Het
Get4 G A 5: 139,238,254 (GRCm39) G12D probably benign Het
Gmpr2 T A 14: 55,915,758 (GRCm39) I312N probably damaging Het
Golm1 T A 13: 59,786,191 (GRCm39) M334L probably benign Het
Itgam T A 7: 127,715,472 (GRCm39) F1054L possibly damaging Het
Kcnk7 C A 19: 5,756,501 (GRCm39) probably benign Het
Kif3b G A 2: 153,158,813 (GRCm39) A205T probably damaging Het
Macf1 C T 4: 123,406,659 (GRCm39) V276M probably damaging Het
Mdga2 T A 12: 66,597,349 (GRCm39) N715I probably damaging Het
Mfap5 T A 6: 122,503,746 (GRCm39) S103R possibly damaging Het
Nckap1 C T 2: 80,348,326 (GRCm39) V876M probably damaging Het
Ncor1 A T 11: 62,224,485 (GRCm39) probably benign Het
Nfya G A 17: 48,700,304 (GRCm39) Q122* probably null Het
Nup210l G A 3: 90,011,471 (GRCm39) probably benign Het
Or5h22 T G 16: 58,895,312 (GRCm39) I44L probably damaging Het
Pcdhb19 T A 18: 37,631,861 (GRCm39) L552Q probably damaging Het
Psmd2 T A 16: 20,473,397 (GRCm39) S153T probably benign Het
Ptpn4 T C 1: 119,610,452 (GRCm39) Y685C probably damaging Het
Rad54l2 T C 9: 106,597,575 (GRCm39) R144G probably damaging Het
S1pr4 A C 10: 81,334,855 (GRCm39) Y206* probably null Het
Slc39a14 A G 14: 70,553,885 (GRCm39) probably null Het
Stx2 G A 5: 129,065,894 (GRCm39) A254V probably damaging Het
Sumf2 G T 5: 129,888,711 (GRCm39) G216C probably damaging Het
Trem1 T A 17: 48,539,824 (GRCm39) M1K probably null Het
Trmt1l T C 1: 151,325,757 (GRCm39) Y401H probably damaging Het
Ttc22 A T 4: 106,480,135 (GRCm39) M130L probably damaging Het
Wnk1 T C 6: 119,940,289 (GRCm39) E816G probably damaging Het
Wnt9b C T 11: 103,622,908 (GRCm39) G165D probably damaging Het
Zscan21 A G 5: 138,131,645 (GRCm39) T390A probably damaging Het
Zswim7 G T 11: 62,159,581 (GRCm39) C85* 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
IGL02476:Tbc1d32 APN 10 56,074,638 (GRCm39) missense possibly damaging 0.71
IGL02750:Tbc1d32 APN 10 56,074,587 (GRCm39) missense possibly damaging 0.95
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