Arfgap3 - SNV Details



 Gene Information 
Gene Name Arfgap3
Old Gene Names for Arfgap3 0610009h19rik , 1810035f16rik , 9130416j18rik
Gene Description ADP-ribosylation factor GTPase activating protein 3 [Source:MGI Symbol;Acc:MGI:1913501]
Uniprot Name
CCDS Name
Gene GO
regulation of ARF GTPase activity; membrane; Golgi membrane; cytoplasm; protein secretion; positive regulation of GTPase activity; zinc ion binding; protein binding; cytosol; vesicle-mediated transport; ARF GTPase activator activity; Golgi apparatus
Homolog in other species ARFGAP3
Omim http://omim.org/entry/612439
Immgen Expression
MEDIAN(HIGHER IN DC.LC.SK)
Gnf Expression
MEDIAN
MEDIAN(HIGH IN KIDNEY, LIVER, IMM GROUP, OSTEO GROUP, PROSTATE)
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000054277
Chromosome 15
Coordinate 83,343,081     (Assembly: GRCm38)    
Ref Base A
Var Base C
Zygosity Heterozygous
Read Depth 33
Allele Frequency
A:R0.45
C:V0.55
Amino Acid Change F->L (Phenylalanine -> Leucine)
Sample ID IGL03328
Median Base Quality 38
Backgrounds C57BL/6NCrl
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 68 Other Mutations

 Predictions 
Polyphen Score 0.98
Polyphen Prediction Probably damaging

 Availability Details 
Availability