Incidental Mutation 'IGL00945:Aldh5a1'
ID 28867
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Aldh5a1
Ensembl Gene ENSMUSG00000035936
Gene Name aldhehyde dehydrogenase family 5, subfamily A1
Synonyms 6330403E24Rik, SSADH, D630032B01Rik, OTTMUSG00000000613
Accession Numbers
Essential gene? Possibly essential (E-score: 0.735) question?
Stock # IGL00945
Quality Score
Status
Chromosome 13
Chromosomal Location 25091562-25121644 bp(-) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) A to G at 25110141 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000040591 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000037615]
AlphaFold Q8BWF0
Predicted Effect probably benign
Transcript: ENSMUST00000037615
SMART Domains Protein: ENSMUSP00000040591
Gene: ENSMUSG00000035936

DomainStartEndE-ValueType
Pfam:Aldedh 57 518 7.7e-169 PFAM
Coding Region Coverage
Validation Efficiency
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 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
Total: 26 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ablim2 A G 5: 35,994,364 (GRCm39) I101V probably damaging Het
Arhgef28 A C 13: 98,103,907 (GRCm39) L728R possibly damaging Het
Dct G A 14: 118,277,916 (GRCm39) T218M probably damaging Het
Hcn2 C T 10: 79,569,637 (GRCm39) R546* probably null Het
Hnrnpm C A 17: 33,868,876 (GRCm39) R517L probably damaging Het
Lap3 A G 5: 45,662,115 (GRCm39) probably null Het
Mettl16 C T 11: 74,708,192 (GRCm39) H464Y probably benign Het
Myh13 G A 11: 67,238,832 (GRCm39) R725Q probably null Het
Nf1 T C 11: 79,360,629 (GRCm39) F1436L probably damaging Het
Nod1 C T 6: 54,921,571 (GRCm39) probably null Het
Or6c215 A T 10: 129,637,776 (GRCm39) V206E possibly damaging Het
Pde5a T A 3: 122,629,291 (GRCm39) probably null Het
Pja2 T C 17: 64,616,391 (GRCm39) Y168C probably benign Het
Plod2 A G 9: 92,466,549 (GRCm39) I170V probably benign Het
Pop5 A G 5: 115,378,618 (GRCm39) probably benign Het
Sdk1 G T 5: 142,070,368 (GRCm39) probably null Het
Sema3f G A 9: 107,562,721 (GRCm39) S420L probably benign Het
Shtn1 C T 19: 59,007,384 (GRCm39) E289K possibly damaging Het
Smarca1 A T X: 46,947,178 (GRCm39) Y526* probably null Het
Sptan1 T C 2: 29,890,083 (GRCm39) probably benign Het
St7l C A 3: 104,833,798 (GRCm39) H486Q probably damaging Het
Tcte1 C A 17: 45,852,115 (GRCm39) F449L probably benign Het
Tmem131 A G 1: 36,866,086 (GRCm39) probably benign Het
Trim46 A G 3: 89,151,725 (GRCm39) probably benign Het
Wwp1 A T 4: 19,640,193 (GRCm39) probably null Het
Zc3h13 A G 14: 75,567,587 (GRCm39) D960G probably damaging Het
Other mutations in Aldh5a1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01468:Aldh5a1 APN 13 25,095,536 (GRCm39) utr 3 prime probably benign
IGL01538:Aldh5a1 APN 13 25,102,495 (GRCm39) missense possibly damaging 0.90
IGL02839:Aldh5a1 APN 13 25,095,603 (GRCm39) missense probably damaging 1.00
R0529:Aldh5a1 UTSW 13 25,097,856 (GRCm39) missense probably benign 0.00
R1820:Aldh5a1 UTSW 13 25,111,555 (GRCm39) missense probably benign 0.01
R2295:Aldh5a1 UTSW 13 25,110,082 (GRCm39) missense probably damaging 1.00
R4231:Aldh5a1 UTSW 13 25,095,636 (GRCm39) missense probably damaging 1.00
R4591:Aldh5a1 UTSW 13 25,107,991 (GRCm39) missense probably damaging 1.00
R4865:Aldh5a1 UTSW 13 25,095,567 (GRCm39) missense probably damaging 1.00
R5159:Aldh5a1 UTSW 13 25,097,776 (GRCm39) missense possibly damaging 0.72
R5563:Aldh5a1 UTSW 13 25,102,609 (GRCm39) missense possibly damaging 0.95
R6146:Aldh5a1 UTSW 13 25,103,661 (GRCm39) critical splice donor site probably null
R6362:Aldh5a1 UTSW 13 25,102,533 (GRCm39) missense probably benign 0.24
R6531:Aldh5a1 UTSW 13 25,102,547 (GRCm39) missense probably benign 0.11
R6705:Aldh5a1 UTSW 13 25,096,253 (GRCm39) missense probably damaging 1.00
R7151:Aldh5a1 UTSW 13 25,121,382 (GRCm39) nonsense probably null
R7155:Aldh5a1 UTSW 13 25,095,572 (GRCm39) missense possibly damaging 0.74
R7698:Aldh5a1 UTSW 13 25,095,731 (GRCm39) missense probably damaging 0.99
R8027:Aldh5a1 UTSW 13 25,110,093 (GRCm39) nonsense probably null
R8712:Aldh5a1 UTSW 13 25,102,524 (GRCm39) missense probably damaging 1.00
R8849:Aldh5a1 UTSW 13 25,121,464 (GRCm39) missense probably benign
R8910:Aldh5a1 UTSW 13 25,102,599 (GRCm39) missense probably damaging 1.00
R9417:Aldh5a1 UTSW 13 25,095,673 (GRCm39) missense probably damaging 1.00
R9435:Aldh5a1 UTSW 13 25,121,293 (GRCm39) missense probably damaging 1.00
R9674:Aldh5a1 UTSW 13 25,110,038 (GRCm39) missense probably benign
Z1177:Aldh5a1 UTSW 13 25,095,621 (GRCm39) missense probably damaging 1.00
Posted On 2013-04-17