|Institutional Source||Beutler Lab|
|Gene Name||aldehyde dehydrogenase 16 family, member A1|
|Is this an essential gene?||Non essential (E-score: 0.000)|
|Stock #||R8301 (G1)|
|Chromosomal Location||45140684-45154584 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||C to T at 45141982 bp|
|Amino Acid Change||Alanine to Threonine at position 790 (A790T)|
|Ref Sequence||ENSEMBL: ENSMUSP00000148069 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000107815] [ENSMUST00000209963] [ENSMUST00000211169]|
|Predicted Effect||probably benign
|Predicted Effect||possibly damaging
AA Change: A790T
PolyPhen 2 Score 0.798 (Sensitivity: 0.84; Specificity: 0.93)
|Predicted Effect||probably damaging
AA Change: A100T
PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|Meta Mutation Damage Score||0.1712|
|Coding Region Coverage||
|Validation Efficiency||100% (71/71)|
|MGI Phenotype||FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the aldehyde dehydrogenase superfamily. The family members act on aldehyde substrates and use nicotinamide adenine dinucleotide phosphate (NADP) as a cofactor. This gene is conserved in chimpanzee, dog, cow, mouse, rat, and zebrafish. The protein encoded by this gene interacts with maspardin, a protein that when truncated is responsible for Mast syndrome. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2010]|
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Aldh16a1||
(F):5'- CAGTATTCTCCCAGGGTTGC -3'
(R):5'- CTAAGGAAGCAGCTGTTTGGC -3'
(F):5'- TACTGGGCCACACATGAAG -3'
(R):5'- CTGTTTGGCAACTAAACCACTGG -3'