|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 #||R7129 (G1)|
|Chromosomal Location||138260991-138290698 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to C at 138280474 bp|
|Amino Acid Change||Valine to Alanine at position 74 (V74A)|
|Ref Sequence||ENSEMBL: ENSMUSP00000004232 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000004232] [ENSMUST00000159159]|
|Predicted Effect||probably damaging
AA Change: V74A
PolyPhen 2 Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)
AA Change: V74A
|Predicted Effect||probably benign
|Meta Mutation Damage Score||0.1527|
|Coding Region Coverage||
|Validation Efficiency||98% (58/59)|
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'- TAAGGATTGTTAGGAAGCCCC -3'
(R):5'- TTGGATGTAGCACGACTGAG -3'
(F):5'- TTGTTAGGAAGCCCCTCAGAAGC -3'
(R):5'- TAGCACGACTGAGGCATGC -3'