Incidental Mutation 'IGL01370:Tbc1d10b'
ID 76117
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tbc1d10b
Ensembl Gene ENSMUSG00000042492
Gene Name TBC1 domain family, member 10b
Synonyms 1110003P22Rik
Accession Numbers
Essential gene? Possibly essential (E-score: 0.518) question?
Stock # IGL01370
Quality Score
Status
Chromosome 7
Chromosomal Location 126796631-126807640 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 126798253 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Glutamine at position 629 (H629Q)
Ref Sequence ENSEMBL: ENSMUSP00000113307 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000035771] [ENSMUST00000120705] [ENSMUST00000205321] [ENSMUST00000205355] [ENSMUST00000206081] [ENSMUST00000205316] [ENSMUST00000206026] [ENSMUST00000206587] [ENSMUST00000166791]
AlphaFold Q8BHL3
Predicted Effect probably benign
Transcript: ENSMUST00000035771
SMART Domains Protein: ENSMUSP00000044790
Gene: ENSMUSG00000042502

DomainStartEndE-ValueType
low complexity region 46 60 N/A INTRINSIC
low complexity region 156 165 N/A INTRINSIC
low complexity region 172 193 N/A INTRINSIC
GYF 282 339 7.35e-25 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000120705
AA Change: H629Q

PolyPhen 2 Score 0.971 (Sensitivity: 0.77; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000113307
Gene: ENSMUSG00000042492
AA Change: H629Q

DomainStartEndE-ValueType
low complexity region 10 33 N/A INTRINSIC
low complexity region 66 81 N/A INTRINSIC
low complexity region 129 143 N/A INTRINSIC
low complexity region 145 161 N/A INTRINSIC
low complexity region 207 227 N/A INTRINSIC
Blast:TBC 274 305 6e-10 BLAST
TBC 343 557 8.23e-57 SMART
low complexity region 632 678 N/A INTRINSIC
coiled coil region 701 769 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000124240
Predicted Effect noncoding transcript
Transcript: ENSMUST00000133666
Predicted Effect noncoding transcript
Transcript: ENSMUST00000137987
Predicted Effect noncoding transcript
Transcript: ENSMUST00000138219
Predicted Effect probably benign
Transcript: ENSMUST00000205321
Predicted Effect noncoding transcript
Transcript: ENSMUST00000147520
Predicted Effect probably benign
Transcript: ENSMUST00000205355
Predicted Effect noncoding transcript
Transcript: ENSMUST00000205525
Predicted Effect probably benign
Transcript: ENSMUST00000206081
Predicted Effect probably benign
Transcript: ENSMUST00000205316
Predicted Effect noncoding transcript
Transcript: ENSMUST00000153857
Predicted Effect probably benign
Transcript: ENSMUST00000206026
Predicted Effect probably benign
Transcript: ENSMUST00000206587
Predicted Effect probably benign
Transcript: ENSMUST00000205620
Predicted Effect probably benign
Transcript: ENSMUST00000166791
SMART Domains Protein: ENSMUSP00000132963
Gene: ENSMUSG00000042502

DomainStartEndE-ValueType
low complexity region 46 60 N/A INTRINSIC
low complexity region 156 165 N/A INTRINSIC
low complexity region 172 193 N/A INTRINSIC
GYF 282 339 7.35e-25 SMART
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Small G proteins of the RAB family (see MIM 179508) function in intracellular vesicle trafficking by switching from the GTP-bound state to the GDP-bound state with the assistance of guanine nucleotide exchange factors (GEFs; see MIM 609700) and GTPase-activating proteins (GAPs). TBC1D10B functions as a GAP for several proteins of the Rab family (Ishibashi et al., 2009 [PubMed 19077034]).[supplied by OMIM, Nov 2010]
Allele List at MGI
Other mutations in this stock
Total: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adck1 A T 12: 88,423,503 (GRCm39) probably benign Het
Add1 C T 5: 34,787,859 (GRCm39) T210I probably damaging Het
Ajm1 T C 2: 25,468,969 (GRCm39) E314G possibly damaging Het
Alpk2 A T 18: 65,483,662 (GRCm39) D115E possibly damaging Het
Ankrd36 C T 11: 5,534,019 (GRCm39) T290I probably benign Het
Bltp1 T A 3: 37,001,904 (GRCm39) I1283N probably benign Het
Castor2 T C 5: 134,167,111 (GRCm39) V323A probably benign Het
Ccnt2 T C 1: 127,731,250 (GRCm39) F709S possibly damaging Het
Erc1 T C 6: 119,801,426 (GRCm39) E197G probably damaging Het
Ftsj3 G T 11: 106,143,145 (GRCm39) R390S possibly damaging Het
Gabrb3 G A 7: 57,466,226 (GRCm39) A347T probably benign Het
Gde1 A G 7: 118,288,383 (GRCm39) probably benign Het
Jhy A T 9: 40,828,438 (GRCm39) N489K probably benign Het
Kiss1r A G 10: 79,754,658 (GRCm39) T51A probably benign Het
Lama5 T C 2: 179,839,193 (GRCm39) S772G possibly damaging Het
Lamb2 G T 9: 108,364,932 (GRCm39) probably null Het
Loxl3 A G 6: 83,026,468 (GRCm39) T475A probably damaging Het
Lpl A T 8: 69,340,220 (GRCm39) S72C possibly damaging Het
Lrrc74a A T 12: 86,801,204 (GRCm39) I352F probably damaging Het
Mcoln2 T C 3: 145,887,585 (GRCm39) I334T possibly damaging Het
Mettl8 T G 2: 70,812,383 (GRCm39) D49A probably damaging Het
Ms4a3 T A 19: 11,610,245 (GRCm39) T106S probably benign Het
Obscn T A 11: 58,886,389 (GRCm39) probably null Het
Or14j2 T C 17: 37,885,412 (GRCm39) I301V probably null Het
Or1o11 C A 17: 37,756,605 (GRCm39) H64Q probably benign Het
Or1p1c G A 11: 74,160,325 (GRCm39) V37I probably benign Het
Or4n4 G T 14: 50,519,689 (GRCm39) T7K probably damaging Het
Or5b107 A T 19: 13,142,663 (GRCm39) Y95F possibly damaging Het
Pcnx2 T C 8: 126,528,222 (GRCm39) K1333E probably damaging Het
Pias3 T C 3: 96,610,891 (GRCm39) F364L probably damaging Het
Piezo2 T A 18: 63,155,531 (GRCm39) I2438F probably damaging Het
Plcb3 A C 19: 6,940,192 (GRCm39) V465G probably damaging Het
Plekho2 G T 9: 65,465,912 (GRCm39) H159N probably damaging Het
Polr2e A G 10: 79,872,681 (GRCm39) probably benign Het
Rab6b G T 9: 103,041,094 (GRCm39) V163L probably benign Het
Rabep1 A G 11: 70,816,607 (GRCm39) M597V probably benign Het
Rbm15 A G 3: 107,238,326 (GRCm39) S691P probably damaging Het
Sec24b G A 3: 129,801,253 (GRCm39) probably benign Het
Slc6a18 A G 13: 73,815,150 (GRCm39) I386T probably damaging Het
Stxbp3 A C 3: 108,704,741 (GRCm39) Y497* probably null Het
Styk1 T C 6: 131,278,615 (GRCm39) K353R probably damaging Het
Tbc1d5 T A 17: 51,273,755 (GRCm39) I119F probably benign Het
Tcp11l1 G T 2: 104,536,831 (GRCm39) D11E probably benign Het
Tfap2d A G 1: 19,175,009 (GRCm39) Y154C probably damaging Het
Tgm5 T C 2: 120,884,018 (GRCm39) N325S probably benign Het
Thbs2 T C 17: 14,910,327 (GRCm39) K91E possibly damaging Het
Vmn2r26 T A 6: 124,038,715 (GRCm39) F763L probably benign Het
Washc4 A G 10: 83,394,694 (GRCm39) E308G probably damaging Het
Xpot C A 10: 121,440,399 (GRCm39) A611S probably benign Het
Other mutations in Tbc1d10b
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0318:Tbc1d10b UTSW 7 126,798,206 (GRCm39) missense probably damaging 1.00
R1480:Tbc1d10b UTSW 7 126,802,950 (GRCm39) missense probably benign
R1793:Tbc1d10b UTSW 7 126,802,930 (GRCm39) missense possibly damaging 0.48
R1971:Tbc1d10b UTSW 7 126,807,036 (GRCm39) missense probably benign 0.37
R2520:Tbc1d10b UTSW 7 126,799,455 (GRCm39) critical splice donor site probably null
R3887:Tbc1d10b UTSW 7 126,798,967 (GRCm39) missense possibly damaging 0.53
R5517:Tbc1d10b UTSW 7 126,797,779 (GRCm39) missense possibly damaging 0.93
R5780:Tbc1d10b UTSW 7 126,797,925 (GRCm39) missense possibly damaging 0.58
R5912:Tbc1d10b UTSW 7 126,799,033 (GRCm39) missense probably damaging 0.99
R6151:Tbc1d10b UTSW 7 126,807,168 (GRCm39) missense probably damaging 1.00
R6358:Tbc1d10b UTSW 7 126,802,584 (GRCm39) missense probably benign 0.02
R6480:Tbc1d10b UTSW 7 126,798,050 (GRCm39) missense probably damaging 0.99
R7075:Tbc1d10b UTSW 7 126,802,410 (GRCm39) missense possibly damaging 0.90
R7731:Tbc1d10b UTSW 7 126,797,993 (GRCm39) missense probably benign
R8004:Tbc1d10b UTSW 7 126,798,183 (GRCm39) missense probably damaging 1.00
R8910:Tbc1d10b UTSW 7 126,806,938 (GRCm39) missense probably benign
R9187:Tbc1d10b UTSW 7 126,807,105 (GRCm39) missense probably benign 0.00
R9632:Tbc1d10b UTSW 7 126,807,036 (GRCm39) missense probably benign 0.06
Posted On 2013-10-07