Incidental Mutation 'IGL00955:Tbc1d8b'
ID29592
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: 0.141) question?
Stock #IGL00955
Quality Score
Status
ChromosomeX
Chromosomal Location139684996-139753405 bp(+) (GRCm38)
Type of Mutationcritical splice donor site (2 bp from exon)
DNA Base Change (assembly) T to C at 139725880 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000094036 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000096313]
Predicted Effect probably null
Transcript: ENSMUST00000096313
SMART Domains Protein: ENSMUSP00000094036
Gene: ENSMUSG00000042473

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
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: 29 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arl11 A T 14: 61,311,242 Q167L probably benign Het
Ces3a T A 8: 105,050,570 V175E probably damaging Het
Cherp C T 8: 72,470,194 E140K probably damaging Het
Clpx A T 9: 65,324,270 T546S probably damaging Het
Csgalnact2 A G 6: 118,129,264 L31P probably damaging Het
Cxcr1 A T 1: 74,192,220 F214L probably benign Het
Cyp2c67 T A 19: 39,643,385 T123S possibly damaging Het
Dbt G A 3: 116,546,114 G384S probably benign Het
Dzank1 G A 2: 144,490,174 T414I probably benign Het
Erich3 A G 3: 154,748,519 I641V probably benign Het
Gtf2e1 A T 16: 37,535,920 D83E possibly damaging Het
Hars2 T C 18: 36,789,357 probably benign Het
Hnrnpm C A 17: 33,649,902 R517L probably damaging Het
Kcnh2 T C 5: 24,324,966 D372G probably damaging Het
Kcnk2 A T 1: 189,243,014 I264N probably damaging Het
Kctd4 A G 14: 75,963,228 D213G probably damaging Het
Lhx9 T C 1: 138,828,680 T323A possibly damaging Het
Lilra6 C A 7: 3,911,404 probably benign Het
Meig1 T C 2: 3,409,274 D63G probably damaging Het
Mov10l1 A G 15: 88,994,989 Y184C probably damaging Het
Mrpl24 T A 3: 87,922,219 L91* probably null Het
Mup11 C T 4: 60,659,550 R175H probably benign Het
Nbea T C 3: 56,005,472 K965E possibly damaging Het
Olfr598 C A 7: 103,329,321 H278Q probably damaging Het
Papss1 G A 3: 131,599,949 E252K probably benign Het
Robo2 A T 16: 74,015,972 L278Q probably damaging Het
Sned1 A T 1: 93,274,403 I638F probably damaging Het
Spin1 T C 13: 51,144,541 probably null Het
Taar9 T C 10: 24,109,531 T2A probably benign Het
Other mutations in Tbc1d8b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02499:Tbc1d8b APN X 139712424 missense probably damaging 1.00
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 On2013-04-17