|Institutional Source||Beutler Lab|
|Gene Name||aldehyde dehydrogenase family 1, subfamily A1|
|Synonyms||Ahd-2, Ahd2, ALDH1, Raldh1, E1|
|Is this an essential gene?||Probably essential (E-score: 0.869)|
|Stock #||R7282 (G1)|
|Chromosomal Location||20492715-20643462 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to G at 20629070 bp|
|Amino Acid Change||Lysine to Arginine at position 255 (K255R)|
|Ref Sequence||ENSEMBL: ENSMUSP00000084918 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000087638]|
|Predicted Effect||possibly damaging
AA Change: K255R
PolyPhen 2 Score 0.683 (Sensitivity: 0.86; Specificity: 0.92)
AA Change: K255R
|Coding Region Coverage||
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 aldehyde dehydrogenase family. Aldehyde dehydrogenase is the next enzyme after alcohol dehydrogenase in the major pathway of alcohol metabolism. There are two major aldehyde dehydrogenase isozymes in the liver, cytosolic and mitochondrial, which are encoded by distinct genes, and can be distinguished by their electrophoretic mobility, kinetic properties, and subcellular localization. This gene encodes the cytosolic isozyme. Studies in mice show that through its role in retinol metabolism, this gene may also be involved in the regulation of the metabolic responses to high-fat diet. [provided by RefSeq, Mar 2011]
PHENOTYPE: Mice homozygous for a disruption in this gene show a significantly reduced ability to convert retinol to retinoic acid in the liver. Retinal morphology is normal even though the gene is normally highly expressed in the dorsal retina. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Aldh1a1||
(F):5'- GAAGCTTTTACATCTGAGGGTG -3'
(R):5'- CCCAGAGTCACTACAGTTGCTC -3'
(F):5'- TACATCTGAGGGTGCCAGATC -3'
(R):5'- CCCCTTGAAGGAAAGTCATTTG -3'