Rhobtb3 - SNV Details



 Gene Information 
Gene Name Rhobtb3
Old Gene Names for Rhobtb3 1700040c17rik , 4930503c18rik , 2610033k01rik , Ai317148 , Aw208826
Gene Description Rho-related BTB domain containing 3 [Source:MGI Symbol;Acc:MGI:1920546]
Uniprot Name
CCDS Name
Gene GO
ATPase activity; retrograde transport
endosome to Golgi; cytoplasm; small GTPase mediated signal transduction; protein binding; GTP binding; Rab GTPase binding; ATP binding; ATP catabolic process; Golgi apparatus
Homolog in other species RHOBTB3
Omim http://omim.org/entry/607353
Immgen Expression
MEDIAN(HIGHER IN NK GROUP, T.8MEM.LN, TGD.SPT.4NVE.PP, T.4FP3+25+.SP)
Gnf Expression
MEDIAN(HIGH IN M1)
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000021589
Chromosome 13
Coordinate 75,910,937     (Assembly: GRCm38)    
Ref Base C
Var Base A
Zygosity Heterozygous
Read Depth 24
Allele Frequency
C:R0.50
A:V0.50
Amino Acid Change L->F (Leucine -> Phenylalanine)
Sample ID IGL02732
Median Base Quality 38
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 51 Other Mutations

 Predictions 
Polyphen Score 1
Polyphen Prediction Probably damaging

 Availability Details 
Availability Cryopreserved