Incidental Mutation 'IGL01538:Aldh5a1'
ID90037
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Aldh5a1
Ensembl Gene ENSMUSG00000035936
Gene Namealdhehyde dehydrogenase family 5, subfamily A1
SynonymsD630032B01Rik, SSADH, 6330403E24Rik, OTTMUSG00000000613
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.234) question?
Stock #IGL01538
Quality Score
Status
Chromosome13
Chromosomal Location24907579-24937661 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 24918512 bp
ZygosityHeterozygous
Amino Acid Change Asparagine to Aspartic acid at position 323 (N323D)
Ref Sequence ENSEMBL: ENSMUSP00000040591 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000037615]
Predicted Effect possibly damaging
Transcript: ENSMUST00000037615
AA Change: N323D

PolyPhen 2 Score 0.899 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000040591
Gene: ENSMUSG00000035936
AA Change: N323D

DomainStartEndE-ValueType
Pfam:Aldedh 57 518 7.7e-169 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000151220
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: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930533K18Rik A G 10: 70,872,202 noncoding transcript Het
Abca3 G T 17: 24,376,473 C328F possibly damaging Het
Atp5c1 T C 2: 10,068,666 Y32C probably damaging Het
Capn3 T G 2: 120,502,186 probably null Het
Ccdc113 C A 8: 95,551,238 D275E probably benign Het
Ccdc40 T A 11: 119,242,719 F562I possibly damaging Het
Cd96 T C 16: 46,109,127 T152A possibly damaging Het
Cdh7 T A 1: 110,061,140 D257E probably damaging Het
Cilp2 T C 8: 69,881,204 D1048G probably benign Het
Clrn2 T G 5: 45,460,066 L93R probably damaging Het
Crat C A 2: 30,409,966 G134V probably damaging Het
Dis3 A T 14: 99,097,745 N140K probably benign Het
Dmxl2 T A 9: 54,445,376 probably benign Het
Dus1l T A 11: 120,793,079 Q181L probably damaging Het
Ece1 A G 4: 137,948,544 T410A probably benign Het
Gcc1 T A 6: 28,421,048 H90L probably damaging Het
Gm16602 G A 13: 19,336,570 probably benign Het
Gm1966 T C 7: 106,602,537 D500G probably damaging Het
Gpr152 T A 19: 4,142,952 V164E probably damaging Het
Grik3 A C 4: 125,694,036 I650L possibly damaging Het
Gzmm A T 10: 79,695,062 T233S probably benign Het
H2-Q4 T A 17: 35,383,312 V341D probably benign Het
Igsf21 A G 4: 140,027,718 probably benign Het
Kmt2d T C 15: 98,860,657 probably benign Het
Kntc1 T G 5: 123,781,658 V864G probably damaging Het
Lnx1 T C 5: 74,620,155 E235G possibly damaging Het
Man2b1 G T 8: 85,097,430 K985N probably benign Het
Map4k1 C A 7: 29,001,619 P670Q probably damaging Het
Mapk8ip1 C A 2: 92,388,974 probably null Het
Mettl16 T A 11: 74,792,267 Y178* probably null Het
Mrpl11 T A 19: 4,963,421 probably null Het
Nup85 T C 11: 115,569,714 S140P possibly damaging Het
Olfr1140 T C 2: 87,746,598 V134A probably benign Het
Olfr1301 T A 2: 111,755,005 V252E probably damaging Het
Olfr301 T C 7: 86,412,959 L199P possibly damaging Het
Olfr352 T C 2: 36,870,520 probably benign Het
Pcdhb2 T A 18: 37,295,322 L116* probably null Het
Pdcd7 C A 9: 65,346,703 R188S probably damaging Het
Pdk2 T C 11: 95,027,285 Y374C probably damaging Het
Ppp1r12a G T 10: 108,234,021 D224Y probably damaging Het
Ppp2r2d T A 7: 138,876,635 Y169N probably damaging Het
Prcp A C 7: 92,910,213 T162P probably benign Het
Prkd1 A G 12: 50,342,142 S873P probably benign Het
Ptpn2 T C 18: 67,681,553 T129A probably benign Het
Rtkn G A 6: 83,146,061 R68H probably damaging Het
Sall4 C T 2: 168,755,856 D355N probably damaging Het
Scn7a A G 2: 66,703,852 V493A probably benign Het
Sema4b G A 7: 80,215,696 A140T probably damaging Het
Shisa6 C A 11: 66,217,828 G408C possibly damaging Het
Slc7a9 G T 7: 35,454,164 V197F probably damaging Het
Spata2 A T 2: 167,484,151 D249E probably damaging Het
Stk36 T A 1: 74,633,638 V1013E probably benign Het
Tcp10a T C 17: 7,343,500 V336A probably damaging Het
Tfb2m A T 1: 179,537,844 V185D possibly damaging Het
Tgm7 T A 2: 121,106,915 Y76F probably benign Het
Tph1 T C 7: 46,653,753 Y267C probably damaging Het
Ube2d1 A G 10: 71,255,826 probably benign Het
Vmn2r12 C A 5: 109,091,850 R282S probably damaging Het
Vps4a A G 8: 107,036,924 D72G probably benign Het
Wipf2 T A 11: 98,890,803 V56D possibly damaging Het
Wisp3 A G 10: 39,158,310 Y99H probably damaging Het
Zfp750 C A 11: 121,512,165 V586L probably benign Het
Zfp831 A G 2: 174,644,606 E358G possibly damaging Het
Other mutations in Aldh5a1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00945:Aldh5a1 APN 13 24926158 splice site probably benign
IGL01468:Aldh5a1 APN 13 24911553 utr 3 prime probably benign
IGL02839:Aldh5a1 APN 13 24911620 missense probably damaging 1.00
R0529:Aldh5a1 UTSW 13 24913873 missense probably benign 0.00
R1820:Aldh5a1 UTSW 13 24927572 missense probably benign 0.01
R2295:Aldh5a1 UTSW 13 24926099 missense probably damaging 1.00
R4231:Aldh5a1 UTSW 13 24911653 missense probably damaging 1.00
R4591:Aldh5a1 UTSW 13 24924008 missense probably damaging 1.00
R4865:Aldh5a1 UTSW 13 24911584 missense probably damaging 1.00
R5159:Aldh5a1 UTSW 13 24913793 missense possibly damaging 0.72
R5563:Aldh5a1 UTSW 13 24918626 missense possibly damaging 0.95
R6146:Aldh5a1 UTSW 13 24919678 critical splice donor site probably null
R6362:Aldh5a1 UTSW 13 24918550 missense probably benign 0.24
R6531:Aldh5a1 UTSW 13 24918564 missense probably benign 0.11
R6705:Aldh5a1 UTSW 13 24912270 missense probably damaging 1.00
R7151:Aldh5a1 UTSW 13 24937399 nonsense probably null
R7155:Aldh5a1 UTSW 13 24911589 missense possibly damaging 0.74
Posted On2013-12-03