Aldh3a1 - SNV Details



 Gene Information 
Gene Name Aldh3a1
Old Gene Names for Aldh3a1 Aldh , Ahd-4 , Ahd4 , Aldh3
Gene Description aldehyde dehydrogenase family 3, subfamily A1 [Source:MGI Symbol;Acc:MGI:1353451]
MGI phenotype Homozygous mutation of this gene does not result in a phenotype.
Uniprot Name
CCDS Name
Gene GO
oxidation-reduction process; oxidoreductase activity; cytoplasm; aldehyde dehydrogenase [NAD(P)+] activity; acyl-CoA dehydrogenase activity; endoplasmic reticulum; oxidoreductase activity
acting on the aldehyde or oxo group of donors
NAD or NADP as acceptor; metabolic process; response to hypoxia; response to glucocorticoid stimulus; 3-chloroallyl aldehyde dehydrogenase activity; bioluminescence; cytosol; response to organic cyclic compound; aging; response to drug; response to cAMP; cellular aldehyde metabolic process; positive regulation of cell proliferation; alcohol dehydrogenase (NADP+) activity; response to nutrient; aldehyde dehydrogenase (NAD) activity
Homolog in other species ALDH3A1
Omim http://omim.org/entry/100660
Immgen Expression
MEDIAN(HIGHER IN DC.LC.SK)
Gnf Expression
LOW(HIGH IN RETINA, UMBLICALCORD. EPIDERMIS TISSUES, TRACHEA)
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000019102
Chromosome 11
Coordinate 61,216,321     (Assembly: GRCm38)    
Ref Base A
Var Base G
Zygosity Heterozygous
Read Depth 19
Allele Frequency
A:R0.42
G:V0.58
Amino Acid Change R->G (Arginine -> Glycine)
Sample ID IGL02608
Median Base Quality 39
Backgrounds C57BL/6n
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 58 Other Mutations

 Predictions 
Polyphen Score 1
Polyphen Prediction Probably damaging
Druggable Yes, View known drug interactions

 Availability Details 
Availability Cryopreserved