Pfas - SNV Details



 Gene Information 
Gene Name Pfas
Old Gene Names for Pfas 4432409b16rik , Gm18
Gene Description phosphoribosylformylglycinamidine synthase (FGAR amidotransferase) [Source:MGI Symbol;Acc:MGI:2684864]
Uniprot Name
CCDS Name
Gene GO
'de novo' IMP biosynthetic process; catalytic activity; cytoplasm; glutamine metabolic process; phosphoribosylformylglycinamidine synthase activity; ribonucleoside monophosphate biosynthetic process; response to drug; ATP binding
Homolog in other species PFAS
Omim http://omim.org/entry/602133
Immgen Expression
MEDIAN(HIGH IN B.GC.SP, PROB.FRBC.FL, PREB.FRD.FL)
Gnf Expression
MEDIAN
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000020899
Chromosome 11
Coordinate 68,991,060     (Assembly: GRCm38)    
Ref Base A
Codon Change gTa/gCa
Var Base G
Zygosity Heterozygous
Read Depth 19
Allele Frequency
A:R0.42
G:V0.58
Amino Acid Position 933
Amino Acid Change V->A (Valine -> Alanine)
Sample ID IGL01712
Median Base Quality 36
Backgrounds C57BL/6NCrl
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 49 Other Mutations

 Predictions 
Polyphen Score 0.13
Polyphen Prediction Benign
Sift Score 0.05
Sift Prediction tolerated

 Protein domains 
ENSMUSP00000021282:
Image provided by Ensembl

Full name Short name Interpro SeqRegionName Type Start End Description Search pathways
AIR synthase-related protein, C-terminal domain AIR_synth_C_dom IPR010918 ENSMUSP00000021282 Superfamily 839
1058 Description available Search pathways
AIR synthase-related protein, C-terminal domain AIR_synth_C_dom IPR010918 ENSMUSP00000021282 Pfam 857
984 Description available Search pathways
Phosphoribosylformylglycinamidine synthase PRibForGlyAmidine_synth IPR010073 ENSMUSP00000021282 TIGRfam 7
1332 Description available Search pathways

 Availability Details 
Availability Progeny Cryopreserved