|Institutional Source||Beutler Lab|
|Gene Name||aldo-keto reductase family 1, member A1 (aldehyde reductase)|
|Is this an essential gene?||Possibly non essential (E-score: 0.345)|
|Stock #||R8253 (G1)|
|Chromosomal Location||116636510-116651680 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to T at 116636643 bp|
|Amino Acid Change||Aspartic acid to Glutamic Acid at position 313 (D313E)|
|Ref Sequence||ENSEMBL: ENSMUSP00000030455 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000030455] [ENSMUST00000128059]|
|Predicted Effect||probably damaging
AA Change: D313E
PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
AA Change: D313E
|Predicted Effect||probably benign
|Coding Region Coverage||
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the aldo/keto reductase superfamily, which consists of more than 40 known enzymes and proteins. This member, also known as aldehyde reductase, is involved in the reduction of biogenic and xenobiotic aldehydes and is present in virtually every tissue. Multiple alternatively spliced transcript variants of this gene exist, all encoding the same protein. [provided by RefSeq, Jan 2011]
PHENOTYPE: Mice homozygous for a gene trap allele exhibit increased osteoporosis in response to pregnancy or castration in the absence of dietary ascorbate. Mice homozygous for a knock-out allele exhibit reduced asorbic acid levels and DL-glyceraldehyde, glucuronolactone and glucuronate reductase activity. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Akr1a1||
(F):5'- GGGACAATTTCGTCTCATGCC -3'
(R):5'- CAGATCTGGGCACATTATTCTAGC -3'
(F):5'- GACAATTTCGTCTCATGCCTAACCAG -3'
(R):5'- GGGCACATTATTCTAGCTAGCCTG -3'