Fahd1 - SNV Details



 Gene Information 
Gene Name Fahd1
Old Gene Names for Fahd1 Av002085 , 1110025h10rik
Gene Description fumarylacetoacetate hydrolase domain containing 1 [Source:MGI Symbol;Acc:MGI:1915886]
Uniprot Name
CCDS Name
Gene GO
mitochondrion; catalytic activity; cytoplasm; metal ion binding; metabolic process; acetylpyruvate hydrolase activity; nucleus; fumarylpyruvate hydrolase activity; cytosol; mitochondrial inner membrane; acylpyruvate hydrolase activity
Homolog in other species FAHD1
Immgen Expression
MEDIAN
Gnf Expression
HIGH(LOWER IN FERTILIZED EGG, OOCYTE, PANCREAS, SPLEEN, BONE MARROW, THYROID)
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000045316
Chromosome 17
Coordinate 24,849,530     (Assembly: GRCm38)    
Ref Base A
Var Base T
Zygosity Heterozygous
Read Depth 62
Allele Frequency
A:R0.42
T:V0.58
Amino Acid Change I->N (Isoleucine -> Asparagine)
Sample ID IGL02677
Median Base Quality 41
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 49 Other Mutations

 Predictions 
Polyphen Score 1
Polyphen Prediction Probably damaging

 Availability Details 
Availability Cryopreserved , Line Propagating