Incidental Mutation 'IGL02893:Tbc1d32'
ID363291
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tbc1d32
Ensembl Gene ENSMUSG00000038122
Gene NameTBC1 domain family, member 32
SynonymsD630037F22Rik, C6orf170, Bromi, b2b2284Clo
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.881) question?
Stock #IGL02893
Quality Score
Status
Chromosome10
Chromosomal Location56014293-56228689 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 56017703 bp
ZygosityHeterozygous
Amino Acid Change Glutamic Acid to Glycine at position 1258 (E1258G)
Ref Sequence ENSEMBL: ENSMUSP00000097328 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000099739]
Predicted Effect probably damaging
Transcript: ENSMUST00000099739
AA Change: E1258G

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000097328
Gene: ENSMUSG00000038122
AA Change: E1258G

DomainStartEndE-ValueType
Pfam:BROMI 12 1293 N/A PFAM
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: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 T C 11: 9,290,543 V802A probably damaging Het
Acsl6 G A 11: 54,345,899 V540M probably damaging Het
Ahctf1 A C 1: 179,776,011 Y823* probably null Het
Bbs1 T A 19: 4,897,576 K317* probably null Het
Cand2 T C 6: 115,791,960 L577P probably damaging Het
Cfap44 A T 16: 44,416,817 D449V probably damaging Het
Col28a1 C T 6: 8,103,534 G421S probably damaging Het
Dgkd A G 1: 87,915,208 probably benign Het
Entpd1 T C 19: 40,727,517 V347A probably damaging Het
Etl4 T A 2: 20,760,210 probably benign Het
Fam20a G A 11: 109,721,588 A43V probably benign Het
Fbxo9 A G 9: 78,082,095 probably benign Het
Flg2 C T 3: 93,203,613 R983W unknown Het
Gale T C 4: 135,967,602 V295A probably benign Het
Gpr139 A T 7: 119,145,143 V73D probably damaging Het
Hpca A T 4: 129,118,422 M107K probably damaging Het
Igdcc4 G T 9: 65,133,071 V1002F probably damaging Het
Irx4 T A 13: 73,268,778 L431H probably damaging Het
Lca5l T C 16: 96,178,913 T6A probably benign Het
Lrp4 C T 2: 91,474,816 R263C possibly damaging Het
Meikin G A 11: 54,417,758 C394Y possibly damaging Het
Mmp25 T C 17: 23,644,051 T129A probably damaging Het
Mmp9 A G 2: 164,949,068 probably null Het
Mtmr3 A T 11: 4,507,632 M171K possibly damaging Het
Muc4 C T 16: 32,751,648 H509Y possibly damaging Het
Nwd1 A T 8: 72,667,501 H464L probably damaging Het
Olfr173 A G 16: 58,797,657 L63P probably damaging Het
Paqr5 G A 9: 61,968,868 A128V probably benign Het
Pcdhb10 G A 18: 37,413,634 V588M probably damaging Het
Pip A G 6: 41,847,662 D28G probably damaging Het
Rnf31 T A 14: 55,599,109 F800Y probably damaging Het
Sag T G 1: 87,834,593 S327A probably benign Het
Sdf4 T C 4: 155,996,528 probably benign Het
Slc10a6 A T 5: 103,628,873 D120E probably benign Het
Spata31d1d T A 13: 59,725,979 K1247N possibly damaging Het
Stam2 A G 2: 52,714,902 V207A probably damaging Het
Sytl3 T C 17: 6,732,974 L181P probably damaging Het
Tmem63b T G 17: 45,661,900 H656P probably damaging Het
Tmem69 T A 4: 116,553,729 M15L probably benign Het
Tmprss7 T A 16: 45,669,528 I444F possibly damaging Het
Ttbk2 C A 2: 120,783,729 R168L probably damaging Het
Ttc28 A G 5: 111,285,385 Y2095C possibly damaging Het
Ube3c A G 5: 29,632,763 Y643C probably damaging Het
Ywhaq G A 12: 21,396,409 A152V probably damaging Het
Zeb2 T A 2: 44,996,607 I813F probably benign Het
Other mutations in Tbc1d32
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00490:Tbc1d32 APN 10 56155765 missense probably damaging 1.00
IGL00535:Tbc1d32 APN 10 56215125 splice site probably benign
IGL00835:Tbc1d32 APN 10 56089846 splice site probably benign
IGL01013:Tbc1d32 APN 10 56201959 splice site probably null
IGL01306:Tbc1d32 APN 10 56180524 missense probably benign 0.14
IGL01452:Tbc1d32 APN 10 56215080 missense possibly damaging 0.71
IGL01668:Tbc1d32 APN 10 56123577 missense probably benign 0.37
IGL02008:Tbc1d32 APN 10 56151775 missense possibly damaging 0.71
IGL02076:Tbc1d32 APN 10 56088403 missense possibly damaging 0.93
IGL02348:Tbc1d32 APN 10 56224619 missense probably benign 0.06
IGL02476:Tbc1d32 APN 10 56198542 missense possibly damaging 0.71
IGL02750:Tbc1d32 APN 10 56198491 missense possibly damaging 0.95
ANU23:Tbc1d32 UTSW 10 56180524 missense probably benign 0.14
P0035:Tbc1d32 UTSW 10 56198439 missense probably damaging 1.00
R0118:Tbc1d32 UTSW 10 56017605 missense probably benign 0.02
R0446:Tbc1d32 UTSW 10 56192898 missense possibly damaging 0.93
R0567:Tbc1d32 UTSW 10 56173963 missense possibly damaging 0.71
R0615:Tbc1d32 UTSW 10 56224640 missense probably benign 0.33
R0679:Tbc1d32 UTSW 10 56180576 missense probably damaging 0.99
R0943:Tbc1d32 UTSW 10 56161147 missense probably benign
R1432:Tbc1d32 UTSW 10 56017662 missense probably damaging 0.99
R1454:Tbc1d32 UTSW 10 56177479 splice site probably benign
R1708:Tbc1d32 UTSW 10 56151769 missense possibly damaging 0.84
R1834:Tbc1d32 UTSW 10 56017604 missense probably benign 0.00
R1860:Tbc1d32 UTSW 10 56123537 nonsense probably null
R2208:Tbc1d32 UTSW 10 56150792 critical splice donor site probably null
R3012:Tbc1d32 UTSW 10 56173915 missense probably benign 0.08
R3736:Tbc1d32 UTSW 10 56129093 missense probably damaging 0.99
R4184:Tbc1d32 UTSW 10 56224580 missense probably benign 0.15
R4259:Tbc1d32 UTSW 10 56049771 missense probably damaging 0.97
R4617:Tbc1d32 UTSW 10 56170904 missense possibly damaging 0.92
R4700:Tbc1d32 UTSW 10 56224649 missense probably damaging 0.98
R4794:Tbc1d32 UTSW 10 56196836 missense possibly damaging 0.92
R4879:Tbc1d32 UTSW 10 56049029 splice site probably null
R5031:Tbc1d32 UTSW 10 56123531 missense probably damaging 0.98
R5036:Tbc1d32 UTSW 10 56195404 nonsense probably null
R5276:Tbc1d32 UTSW 10 56151818 missense probably damaging 0.99
R5358:Tbc1d32 UTSW 10 56170937 missense possibly damaging 0.93
R5429:Tbc1d32 UTSW 10 56027993 missense probably damaging 0.99
R5435:Tbc1d32 UTSW 10 56040150 missense probably damaging 0.98
R5451:Tbc1d32 UTSW 10 56195475 missense possibly damaging 0.95
R5607:Tbc1d32 UTSW 10 56129150 missense possibly damaging 0.92
R5642:Tbc1d32 UTSW 10 56150877 missense possibly damaging 0.82
R5732:Tbc1d32 UTSW 10 56088393 missense probably damaging 0.99
R5795:Tbc1d32 UTSW 10 56215062 missense possibly damaging 0.71
R5988:Tbc1d32 UTSW 10 56088337 missense probably damaging 0.98
R6054:Tbc1d32 UTSW 10 56162208 missense possibly damaging 0.95
R6103:Tbc1d32 UTSW 10 56150883 missense probably damaging 0.99
R6277:Tbc1d32 UTSW 10 56195429 missense probably benign
R6422:Tbc1d32 UTSW 10 56028061 nonsense probably null
R6508:Tbc1d32 UTSW 10 56224690 missense probably damaging 0.98
R6859:Tbc1d32 UTSW 10 56180530 missense probably damaging 0.98
R6887:Tbc1d32 UTSW 10 56151811 nonsense probably null
R7012:Tbc1d32 UTSW 10 56224724 missense probably damaging 0.99
R7253:Tbc1d32 UTSW 10 56198441 missense probably benign
R7288:Tbc1d32 UTSW 10 56051387 critical splice donor site probably null
R7599:Tbc1d32 UTSW 10 56151833 missense possibly damaging 0.92
R8338:Tbc1d32 UTSW 10 56028077 missense possibly damaging 0.85
R8814:Tbc1d32 UTSW 10 56196592 missense possibly damaging 0.93
Z1188:Tbc1d32 UTSW 10 56170881 missense probably damaging 0.99
Posted On2015-12-18