|Institutional Source||Beutler Lab|
|Gene Name||alcohol dehydrogenase 1 (class I)|
|Synonyms||class I alcohol dehydrogenase, ADH-AA, Adh1tl, Adh-1e, Adh-1t, Adh-1-t, Adh-1, Adh1-t, Adh1-e|
|Is this an essential gene?||Non essential (E-score: 0.000)|
|Stock #||R7291 (G1)|
|Chromosomal Location||138260991-138290698 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to C at 138282808 bp|
|Amino Acid Change||Tyrosine to Histidine at position 181 (Y181H)|
|Ref Sequence||ENSEMBL: ENSMUSP00000004232 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000004232] [ENSMUST00000159159]|
|Predicted Effect||probably damaging
AA Change: Y181H
PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
AA Change: Y181H
|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 class I alcohol dehydrogenase, gamma subunit, which is a member of the alcohol dehydrogenase family. Members of this enzyme family metabolize a wide variety of substrates, including ethanol, retinol, other aliphatic alcohols, hydroxysteroids, and lipid peroxidation products. Class I alcohol dehydrogenase, consisting of several homo- and heterodimers of alpha, beta, and gamma subunits, exhibits high activity for ethanol oxidation and plays a major role in ethanol catabolism. Three genes encoding alpha, beta and gamma subunits are tandemly organized in a genomic segment as a gene cluster. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes for targeted null mutations exhibit impaired metabolism of (and sensitivity to) ethanol and retinol. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Adh1||
(F):5'- GTGGGCACACTGCTTTGTTC -3'
(R):5'- CTCAAGTGTGTGGAGTGAATTCTC -3'
(F):5'- AACCAGTCTGCTAATGCCTCGG -3'
(R):5'- AATTCTCACTGGGGCTGGAGAG -3'