|Institutional Source||Beutler Lab|
|Gene Name||aldehyde dehydrogenase family 3, subfamily A2|
|Synonyms||Ahd3-r, FALDH, Ahd-3r, Aldh4, Aldh4-r, Ahd-3, Ahd3|
|Is this an essential gene?||Probably non essential (E-score: 0.100)|
|Stock #||R0126 (G1)|
|Chromosomal Location||61223417-61267464 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||C to A at 61224558 bp|
|Amino Acid Change||Glutamine to Histidine at position 524 (Q524H)|
|Ref Sequence||ENSEMBL: ENSMUSP00000067767 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000066277]|
|Predicted Effect||probably benign
AA Change: Q524H
PolyPhen 2 Score 0.042 (Sensitivity: 0.94; Specificity: 0.83)
AA Change: Q524H
|Meta Mutation Damage Score||0.1212|
|Coding Region Coverage||
|Validation Efficiency||98% (102/104)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Aldehyde dehydrogenase isozymes are thought to play a major role in the detoxification of aldehydes generated by alcohol metabolism and lipid peroxidation. This gene product catalyzes the oxidation of long-chain aliphatic aldehydes to fatty acid. Mutations in the gene cause Sjogren-Larsson syndrome. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous null mice exhibit impaired long-chain base metabolism, hyperproliferation of keratinocytes, widened intercellular spaces in the basal layer of the epidermis, and delayed barrier recovery after stratum corneum perturbation. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Aldh3a2||
(F):5'- AGGCAACCTCTGTCTCAGTCACTC -3'
(R):5'- TCTTCACAACATGGCTGCCTTGG -3'
(F):5'- CAGTCACTCTGGCTGTCTTG -3'
(R):5'- ATATGGTAGACACCCTTGTTGC -3'