Tbc1d5 - SNV Details



 Gene Information 
Gene Name Tbc1d5
Old Gene Names for Tbc1d5 1600014n05rik
Gene Description TBC1 domain family, member 5 [Source:MGI Symbol;Acc:MGI:1919488]
Uniprot Name
CCDS Name
Gene GO
intracellular; Rab GTPase activator activity; biological_process; regulation of Rab GTPase activity; molecular_function
Homolog in other species TBC1D5
Immgen Expression
LOW
MEDIAN(LOW IN GN.BM)
Gnf Expression
LOW/MEDIAN
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000023923
Chromosome 17
Coordinate 50,966,727     (Assembly: GRCm38)    
Ref Base T
Codon Change Att/Ttt
Var Base A
Zygosity Heterozygous
Read Depth 78
Allele Frequency
T:R0.53
A:V0.47
Amino Acid Position 119
Amino Acid Change I->F (Isoleucine -> Phenylalanine)
Sample ID IGL01370
Median Base Quality 39
Backgrounds C57BL/6NCrl
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 50 Other Mutations

 Predictions 
Polyphen Score 0.03
Polyphen Prediction Benign
Sift Score 0.26
Sift Prediction tolerated

 Protein domains 
ENSMUSP00000024717:
Image provided by Ensembl

Full name Short name Interpro SeqRegionName Type Start End Description Search pathways
Rab-GTPase-TBC domain Rab-GTPase-TBC_dom IPR000195 ENSMUSP00000024717 Superfamily 51
319 Description available Search pathways
Rab-GTPase-TBC domain Rab-GTPase-TBC_dom IPR000195 ENSMUSP00000024717 Pfam 85
378 Description available Search pathways
Rab-GTPase-TBC domain Rab-GTPase-TBC_dom IPR000195 ENSMUSP00000024717 Smart 78
384 Description available Search pathways
Rab-GTPase-TBC domain Rab-GTPase-TBC_dom IPR000195 ENSMUSP00000024717 Prosite_profiles 81
359 Description available Search pathways

 Availability Details 
Availability