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|Institutional Source||Beutler Lab|
|Gene Name||aldehyde dehydrogenase 8 family, member A1|
|Is this an essential gene?||Probably non essential (E-score: 0.077)|
|Stock #||R4016 (G1)|
|Chromosomal Location||21377291-21396585 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||G to A at 21395571 bp|
|Amino Acid Change||Valine to Isoleucine at position 399 (V399I)|
|Ref Sequence||ENSEMBL: ENSMUSP00000038878 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000042699]|
|Predicted Effect||probably benign
AA Change: V399I
PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
AA Change: V399I
|Meta Mutation Damage Score||0.1109|
|Coding Region Coverage||
|Validation Efficiency||100% (49/49)|
|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'- GTCTTGAAAGCTCAGACTGAGGG -3'
(R):5'- AGTCATATGAGTCCTTGGCTCC -3'
(F):5'- TGAGGGTGCCCGGATTCTC -3'
(R):5'- GAGCTCTTCATCCCTCCAAAGG -3'