Incidental Mutation 'IGL02499:Tbc1d8b'
ID295933
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tbc1d8b
Ensembl Gene ENSMUSG00000042473
Gene NameTBC1 domain family, member 8B
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.108) question?
Stock #IGL02499
Quality Score
Status
ChromosomeX
Chromosomal Location139684996-139753405 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 139712424 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Valine at position 333 (D333V)
Ref Sequence ENSEMBL: ENSMUSP00000094036 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000096313] [ENSMUST00000183728]
Predicted Effect probably damaging
Transcript: ENSMUST00000096313
AA Change: D333V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000094036
Gene: ENSMUSG00000042473
AA Change: D333V

DomainStartEndE-ValueType
low complexity region 35 56 N/A INTRINSIC
GRAM 145 212 3.66e-21 SMART
GRAM 285 353 2.26e-12 SMART
TBC 483 696 3.9e-58 SMART
Blast:TBC 708 860 9e-80 BLAST
Predicted Effect noncoding transcript
Transcript: ENSMUST00000183537
Predicted Effect probably benign
Transcript: ENSMUST00000183728
SMART Domains Protein: ENSMUSP00000138884
Gene: ENSMUSG00000098559

DomainStartEndE-ValueType
Pfam:RS4NT 3 40 8.4e-23 PFAM
S4 43 106 4.92e-1 SMART
Pfam:KOW 177 211 2.1e-7 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 protein with a TBC (Tre-2/Bub2/CDC16) domain. Some mammalian proteins with this domain have been shown to function as Rab-GAPs by binding to specific Rab proteins and affecting their GTPase activity. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2011]
Allele List at MGI
Other mutations in this stock
Total: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A930011G23Rik A G 5: 99,229,377 S404P probably damaging Het
A930011G23Rik G A 5: 99,229,382 P402L probably damaging Het
Abcb1a A G 5: 8,726,807 N835S possibly damaging Het
Abr A T 11: 76,509,090 F27Y probably benign Het
Adam5 C T 8: 24,781,565 probably null Het
Alas1 A T 9: 106,241,321 Y201N probably damaging Het
Aldoart1 T A 4: 72,852,239 R111W possibly damaging Het
Arhgef25 A G 10: 127,185,591 Y253H probably damaging Het
Arhgef28 G T 13: 97,953,783 A1076E possibly damaging Het
Baz2b C T 2: 59,901,496 R2066K possibly damaging Het
Bdh1 G T 16: 31,438,048 R5L possibly damaging Het
Brap A G 5: 121,679,871 Y358C probably damaging Het
Cad T C 5: 31,069,604 V1235A probably damaging Het
Cadps G T 14: 12,822,725 S5* probably null Het
Cd200r2 A G 16: 44,914,585 T220A possibly damaging Het
Cd209e T A 8: 3,854,238 M6L probably benign Het
Cdh23 G T 10: 60,385,179 T1265K probably damaging Het
Clec16a T C 16: 10,694,676 S828P probably benign Het
Dao A G 5: 114,013,941 K107E possibly damaging Het
Dnah6 T A 6: 73,021,227 M4071L probably benign Het
Dvl1 T C 4: 155,854,780 I250T probably benign Het
Dzip3 A C 16: 48,933,850 L945V probably damaging Het
Gm128 A G 3: 95,240,681 S101P possibly damaging Het
Gm4951 T C 18: 60,245,638 S82P probably damaging Het
Gphn T C 12: 78,492,300 L240P probably benign Het
Hecw2 A G 1: 53,926,488 I393T probably benign Het
Kat14 A G 2: 144,393,831 E161G probably benign Het
Kcne3 A C 7: 100,184,403 I76L probably benign Het
Kcnk18 A T 19: 59,235,182 Q253L probably benign Het
Kmt2a T C 9: 44,830,509 probably benign Het
Lrrc73 A G 17: 46,256,989 probably benign Het
Mki67 A G 7: 135,694,327 S2993P possibly damaging Het
Mto1 T A 9: 78,461,512 probably benign Het
Myo9a T A 9: 59,815,386 probably benign Het
Myt1 G A 2: 181,825,549 probably benign Het
Ncoa7 T C 10: 30,690,889 T587A probably benign Het
Nemf T A 12: 69,322,129 I771F probably damaging Het
Olfr180 A G 16: 58,916,251 L130P probably damaging Het
Olfr250 A T 9: 38,367,681 Y45F probably benign Het
Olfr370 T A 8: 83,541,183 V13D possibly damaging Het
Papln T C 12: 83,780,671 V761A probably benign Het
Pask A T 1: 93,321,095 L861* probably null Het
Pcdh18 T A 3: 49,753,447 R859S probably benign Het
Ppip5k1 C T 2: 121,331,553 probably null Het
Ptprs A G 17: 56,437,884 V284A probably damaging Het
Rasgrp4 A T 7: 29,151,503 probably benign Het
Rp1 T C 1: 4,349,048 I614V probably benign Het
Sec23ip T C 7: 128,776,916 I818T probably damaging Het
Skint11 G A 4: 114,194,604 A50T probably benign Het
Sqor T A 2: 122,808,087 M417K possibly damaging Het
Tbc1d24 T C 17: 24,207,619 probably null Het
Tbx2 T C 11: 85,840,913 S679P possibly damaging Het
Thbs2 A G 17: 14,684,066 probably benign Het
Ttn T C 2: 76,859,451 probably benign Het
Vmn2r28 A T 7: 5,490,569 I126N probably damaging Het
Zbtb10 G T 3: 9,251,740 G204V probably damaging Het
Zfp426 A C 9: 20,473,118 probably benign Het
Other mutations in Tbc1d8b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00955:Tbc1d8b APN X 139725880 critical splice donor site probably null
R0676:Tbc1d8b UTSW X 139712276 missense possibly damaging 0.77
R1709:Tbc1d8b UTSW X 139734080 missense probably benign 0.02
R3413:Tbc1d8b UTSW X 139713391 missense probably benign 0.00
Posted On2015-04-16