|Institutional Source||Beutler Lab|
|Gene Name||aldehyde dehydrogenase 8 family, member A1|
|Is this an essential gene?||Probably non essential (E-score: 0.072)|
|Stock #||R0105 (G1)|
|Chromosomal Location||21377291-21396585 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to A at 21395539 bp|
|Amino Acid Change||Methionine to Lysine at position 388 (M388K)|
|Ref Sequence||ENSEMBL: ENSMUSP00000038878 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000042699]|
|Predicted Effect||probably damaging
AA Change: M388K
PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
AA Change: M388K
|Meta Mutation Damage Score||0.3667|
|Coding Region Coverage||
|Validation Efficiency||100% (70/70)|
|MGI Phenotype||FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This protein belongs to the aldehyde dehydrogenases family of proteins. It plays a role in a pathway of 9-cis-retinoic acid biosynthesis in vivo. This enzyme converts 9-cis-retinal into the retinoid X receptor ligand 9-cis-retinoic acid, and has approximately 40-fold higher activity with 9-cis-retinal than with all-trans-retinal. Therefore, it is the first known aldehyde dehydrogenase to show a preference for 9-cis-retinal relative to all-trans-retinal. Three transcript variants encoding distinct protein isoforms have been identified for this gene. [provided by RefSeq, Jul 2010]|
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Aldh8a1||
(F):5'- TGTGTGAAACACCCAACGGTAAGAG -3'
(R):5'- TTCATCCCTCCAAAGGGCAGGTTC -3'
(F):5'- TTGAAAGCTCAGACTGAGGG -3'
(R):5'- AGGTTCAGCTCCCTGATGAG -3'