|Institutional Source||Beutler Lab|
|Gene Name||aldo-keto reductase family 7, member A5 (aflatoxin aldehyde reductase)|
|Is this an essential gene?||Probably non essential (E-score: 0.170)|
|Stock #||R6296 (G1)|
|Chromosomal Location||139310744-139318426 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||G to A at 139318221 bp|
|Amino Acid Change||Valine to Isoleucine at position 358 (V358I)|
|Ref Sequence||ENSEMBL: ENSMUSP00000073459 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000073787]|
|Predicted Effect||probably benign
AA Change: V358I
PolyPhen 2 Score 0.246 (Sensitivity: 0.91; Specificity: 0.88)
AA Change: V358I
|Predicted Effect||noncoding transcript
|Coding Region Coverage||
|MGI Phenotype||FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene belongs to the aldo/keto reductase (AKR) superfamily and AKR7 family, which are involved in the detoxification of aldehydes and ketones. The AKR7 family consists of 3 genes that are present in a cluster on the p arm of chromosome 1. This protein, thought to be localized in the golgi, catalyzes the NADPH-dependent reduction of succinic semialdehyde to the endogenous neuromodulator, gamma-hydroxybutyrate. It may also function as a detoxication enzyme in the reduction of aflatoxin B1 and 2-carboxybenzaldehyde. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2016]|
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Akr7a5||
(F):5'- ATCCCAGATCTTACCAGGGGAC -3'
(R):5'- GACACCTGCTTTATTCAGACAGG -3'
(F):5'- GCATGTGACAGGAGCTACC -3'
(R):5'- CCTGCTTTATTCAGACAGGAAACAGG -3'