Arfgap1 - SNV Details



 Gene Information 
Gene Name Arfgap1
Old Gene Names for Arfgap1 1810004p07rik , Ai115377
Gene Description ADP-ribosylation factor GTPase activating protein 1 [Source:MGI Symbol;Acc:MGI:2183559]
Uniprot Name
CCDS Name
Gene GO
regulation of ARF GTPase activity; Golgi membrane; positive regulation of GTPase activity; protein transport; endoplasmic reticulum; zinc ion binding; intracellular membrane-bounded organelle; protein binding; synapse; GTPase activator activity; vesicle-mediated transport; ARF GTPase activator activity; plasma membrane; Golgi apparatus; nuclear membrane
Homolog in other species ARFGAP1
Omim http://omim.org/entry/608377
Immgen Expression
HIGH
Gnf Expression
HIGH(LOWER IN FERTILIZEDEGG, PANCREAS, BROWNFAT, THYROID)
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000027575
Chromosome 2
Coordinate 180,972,725     (Assembly: GRCm38)    
Ref Base T
Codon Change Tct/Act
Var Base A
Zygosity Heterozygous
Read Depth 48
Allele Frequency
T:R0.52
A:V0.48
Amino Acid Position 125
Amino Acid Change S->T (Serine -> Threonine)
Sample ID IGL01518
Median Base Quality 39
Backgrounds C57BL/6NCrl
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 28 Other Mutations

 Predictions 
Polyphen Score 0
Polyphen Prediction Benign
Sift Score 0.11
Sift Prediction tolerated

 Availability Details 
Availability Progeny Cryopreserved