|Institutional Source||Beutler Lab|
|Gene Name||aldehyde dehydrogenase 4 family, member A1|
|Synonyms||P5CDH, Ssdh1, A930035F14Rik, ALDH4, Ahd1, Ahd-1|
|Is this an essential gene?||Probably non essential (E-score: 0.122)|
|Stock #||R7666 (G1)|
|Chromosomal Location||139622866-139649690 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||G to A at 139633957 bp|
|Amino Acid Change||Valine to Methionine at position 72 (V72M)|
|Ref Sequence||ENSEMBL: ENSMUSP00000043821 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000039818] [ENSMUST00000178644]|
|Predicted Effect||probably damaging
AA Change: V72M
PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
AA Change: V72M
|Predicted Effect||probably benign
|Coding Region Coverage||
|Validation Efficiency||100% (57/57)|
|MGI Phenotype||FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This protein belongs to the aldehyde dehydrogenase family of proteins. This enzyme is a mitochondrial matrix NAD-dependent dehydrogenase which catalyzes the second step of the proline degradation pathway, converting pyrroline-5-carboxylate to glutamate. Deficiency of this enzyme is associated with type II hyperprolinemia, an autosomal recessive disorder characterized by accumulation of delta-1-pyrroline-5-carboxylate (P5C) and proline. Alternatively spliced transcript variants encoding different isoforms have been identified for this gene. [provided by RefSeq, Jun 2009]|
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Aldh4a1||
(F):5'- AAGGTGACCAATGAGCCCATC -3'
(R):5'- GAGTGGCACCCTCTGATTCTAG -3'
(F):5'- TAGCATTCTCTCAGGGAAGCC -3'
(R):5'- ACCCTCTGATTCTAGAAGTTTTAGGC -3'