|Institutional Source||Beutler Lab|
|Gene Name||aldhehyde dehydrogenase family 5, subfamily A1|
|Synonyms||D630032B01Rik, SSADH, 6330403E24Rik, OTTMUSG00000000613|
|Essential gene?||Probably essential (E-score: 0.793)|
|Stock #||R6531 (G1)|
|Chromosomal Location||24907579-24937661 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||G to T at 24918564 bp (GRCm38)|
|Amino Acid Change||Aspartic acid to Glutamic Acid at position 305 (D305E)|
|Ref Sequence||ENSEMBL: ENSMUSP00000040591 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000037615]|
AA Change: D305E
PolyPhen 2 Score 0.113 (Sensitivity: 0.93; Specificity: 0.86)
AA Change: D305E
|Meta Mutation Damage Score||0.1244|
|Coding Region Coverage||
|Validation Efficiency||100% (46/46)|
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 gene encodes a mitochondrial NAD(+)-dependent succinic semialdehyde dehydrogenase. A deficiency of this enzyme, known as 4-hydroxybutyricaciduria, is a rare inborn error in the metabolism of the neurotransmitter 4-aminobutyric acid (GABA). In response to the defect, physiologic fluids from patients accumulate GHB, a compound with numerous neuromodulatory properties. Two transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous mutation of this gene results in reduced body weight, ataxia, seizures, gliosis of the hippocampus, and early death. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Aldh5a1||
(F):5'- ACCTCATGCCTGACAGAAAG -3'
(R):5'- TGGACATTTGGGCCATCAGAG -3'
(F):5'- CTTGCTACACAATGACTGAGCAGATG -3'
(R):5'- TTTGGGCCATCAGAGGAAGGTAC -3'