Incidental Mutation 'IGL01468:Aldh5a1'
ID 88188
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 # IGL01468
Quality Score
Status
Chromosome 13
Chromosomal Location 25091562-25121644 bp(-) (GRCm39)
Type of Mutation utr 3 prime
DNA Base Change (assembly) G to T at 25095536 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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000138447
Predicted Effect noncoding transcript
Transcript: ENSMUST00000151220
Predicted Effect noncoding transcript
Transcript: ENSMUST00000225028
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: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca7 G A 10: 79,839,711 (GRCm39) V781I probably benign Het
Arhgap12 T C 18: 6,057,576 (GRCm39) T435A probably benign Het
Atrnl1 G A 19: 57,688,144 (GRCm39) V870I probably benign Het
Cerkl A T 2: 79,173,559 (GRCm39) probably null Het
Cntnap2 T A 6: 47,248,305 (GRCm39) L13* probably null Het
Cr2 G A 1: 194,850,843 (GRCm39) P208S probably damaging Het
Dapk1 A G 13: 60,908,612 (GRCm39) D1075G probably benign Het
Dhx57 T A 17: 80,563,039 (GRCm39) K863* probably null Het
Dnaaf5 C A 5: 139,137,235 (GRCm39) probably null Het
Fbxw7 T A 3: 84,879,806 (GRCm39) I336K probably benign Het
Ftcd A G 10: 76,420,421 (GRCm39) D385G probably benign Het
Gm10153 T C 7: 141,743,778 (GRCm39) S117G unknown Het
Gzmb T C 14: 56,497,772 (GRCm39) Y156C probably benign Het
Herc3 T A 6: 58,831,880 (GRCm39) D83E probably benign Het
Kif2b A G 11: 91,467,191 (GRCm39) V364A probably damaging Het
Mknk2 A G 10: 80,503,498 (GRCm39) probably benign Het
Or7a36 A T 10: 78,819,696 (GRCm39) Q24L probably damaging Het
Pgm1 A T 4: 99,819,367 (GRCm39) N197I possibly damaging Het
Prss39 C T 1: 34,538,481 (GRCm39) probably benign Het
Shroom3 T C 5: 93,088,201 (GRCm39) V236A probably damaging Het
Slc17a8 C T 10: 89,427,883 (GRCm39) probably null Het
Slc24a3 A G 2: 145,455,500 (GRCm39) Y463C probably benign Het
Slc4a7 A G 14: 14,737,480 (GRCm38) E149G probably damaging Het
Synj1 G A 16: 90,807,060 (GRCm39) probably benign Het
Tas2r138 T A 6: 40,589,410 (GRCm39) M279L probably benign Het
Terb1 A G 8: 105,208,799 (GRCm39) probably benign Het
Tiparp G T 3: 65,460,030 (GRCm39) G442* probably null Het
Trmt5 C T 12: 73,327,878 (GRCm39) V442I probably benign Het
Tsc2 T C 17: 24,840,071 (GRCm39) I383V possibly damaging Het
Uchl4 A G 9: 64,142,998 (GRCm39) T160A possibly damaging Het
Vmn2r3 A T 3: 64,182,382 (GRCm39) M439K possibly damaging Het
Vmn2r4 A T 3: 64,313,816 (GRCm39) N388K probably damaging Het
Vmn2r52 A T 7: 9,892,868 (GRCm39) L757Q probably damaging Het
Zfp518a T C 19: 40,904,475 (GRCm39) V1468A probably benign Het
Zxdc A T 6: 90,350,761 (GRCm39) E404V probably damaging Het
Other mutations in Aldh5a1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00945:Aldh5a1 APN 13 25,110,141 (GRCm39) splice site 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 2013-11-18