Incidental Mutation 'IGL02281:Aldh3a1'
ID 289822
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Aldh3a1
Ensembl Gene ENSMUSG00000019102
Gene Name aldehyde dehydrogenase family 3, subfamily A1
Synonyms Ahd-4, Aldh, Aldh3, Ahd4
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02281
Quality Score
Status
Chromosome 11
Chromosomal Location 61099336-61109244 bp(+) (GRCm39)
Type of Mutation splice site (4790 bp from exon)
DNA Base Change (assembly) T to G at 61107949 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000118613 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000019246] [ENSMUST00000108716] [ENSMUST00000147792]
AlphaFold P47739
Predicted Effect probably damaging
Transcript: ENSMUST00000019246
AA Change: M331R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000019246
Gene: ENSMUSG00000019102
AA Change: M331R

DomainStartEndE-ValueType
Pfam:Aldedh 1 428 3.6e-96 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000108716
AA Change: M331R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000104356
Gene: ENSMUSG00000019102
AA Change: M331R

DomainStartEndE-ValueType
Pfam:Aldedh 1 428 4.1e-98 PFAM
Pfam:LuxC 4 389 9.8e-11 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000147792
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Aldehyde dehydrogenases oxidize various aldehydes to the corresponding acids. They are involved in the detoxification of alcohol-derived acetaldehyde and in the metabolism of corticosteroids, biogenic amines, neurotransmitters, and lipid peroxidation. The enzyme encoded by this gene forms a cytoplasmic homodimer that preferentially oxidizes aromatic and medium-chain (6 carbons or more) saturated and unsaturated aldehyde substrates. It is thought to promote resistance to UV and 4-hydroxy-2-nonenal-induced oxidative damage in the cornea. The gene is located within the Smith-Magenis syndrome region on chromosome 17. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Sep 2008]
PHENOTYPE: Homozygous mutation of this gene does not result in a phenotype. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Agrp T C 8: 106,293,786 (GRCm39) E60G probably benign Het
Bach2 T C 4: 32,562,513 (GRCm39) C327R possibly damaging Het
Bcam C T 7: 19,492,616 (GRCm39) G523D probably damaging Het
Bmpr2 T A 1: 59,907,503 (GRCm39) D865E probably damaging Het
Calm1 A T 12: 100,171,883 (GRCm39) I112F probably damaging Het
Ceacam3 T C 7: 16,895,656 (GRCm39) V542A probably benign Het
Clec5a A T 6: 40,561,336 (GRCm39) D36E probably benign Het
Clspn T A 4: 126,459,563 (GRCm39) C321S possibly damaging Het
Cmtr1 T A 17: 29,910,255 (GRCm39) D453E probably benign Het
Cntnap1 T A 11: 101,073,080 (GRCm39) D561E possibly damaging Het
Cul5 A G 9: 53,546,349 (GRCm39) V137A possibly damaging Het
Cyp2b9 A G 7: 25,900,529 (GRCm39) Y389C probably damaging Het
Ddi2 A G 4: 141,419,730 (GRCm39) V340A probably benign Het
Etv4 T C 11: 101,664,545 (GRCm39) Y235C probably damaging Het
Gm3099 G A 14: 15,347,225 (GRCm39) probably benign Het
Gpsm1 T A 2: 26,229,638 (GRCm39) probably benign Het
Idh2 A G 7: 79,745,550 (GRCm39) probably null Het
Kit G A 5: 75,815,194 (GRCm39) E973K possibly damaging Het
Lilra5 A G 7: 4,241,782 (GRCm39) I194V probably benign Het
Lrp6 A C 6: 134,434,697 (GRCm39) N1335K probably benign Het
Map9 G A 3: 82,298,453 (GRCm39) E613K possibly damaging Het
Mroh2b G A 15: 4,981,745 (GRCm39) A1519T probably benign Het
Nefm A G 14: 68,361,913 (GRCm39) V117A probably damaging Het
Nr2c2 T A 6: 92,131,495 (GRCm39) S186T probably benign Het
Pde2a G A 7: 101,130,599 (GRCm39) A80T probably benign Het
Plcd1 A T 9: 118,903,841 (GRCm39) C334S probably benign Het
Pomt1 T C 2: 32,138,658 (GRCm39) S425P possibly damaging Het
Pspc1 G T 14: 56,960,635 (GRCm39) P497T probably benign Het
Rnf123 G A 9: 107,948,651 (GRCm39) P58L probably benign Het
Rph3a T C 5: 121,086,896 (GRCm39) T435A probably damaging Het
Rsbn1 T C 3: 103,869,777 (GRCm39) L746P probably damaging Het
Sfrp2 A G 3: 83,680,446 (GRCm39) E202G possibly damaging Het
Slc25a38 T C 9: 119,946,598 (GRCm39) S111P probably damaging Het
Tfcp2l1 T C 1: 118,597,110 (GRCm39) probably benign Het
Tonsl A T 15: 76,518,274 (GRCm39) L566H probably damaging Het
Tsc1 C A 2: 28,553,607 (GRCm39) D153E probably damaging Het
Vmn2r37 A T 7: 9,220,881 (GRCm39) H327Q possibly damaging Het
Other mutations in Aldh3a1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00510:Aldh3a1 APN 11 61,104,422 (GRCm39) missense probably damaging 1.00
IGL00833:Aldh3a1 APN 11 61,108,006 (GRCm39) missense probably damaging 0.99
IGL02608:Aldh3a1 APN 11 61,107,147 (GRCm39) missense probably damaging 1.00
IGL03294:Aldh3a1 APN 11 61,105,548 (GRCm39) missense probably damaging 1.00
R0006:Aldh3a1 UTSW 11 61,107,927 (GRCm39) missense probably damaging 1.00
R0453:Aldh3a1 UTSW 11 61,106,338 (GRCm39) missense probably benign 0.01
R0612:Aldh3a1 UTSW 11 61,105,445 (GRCm39) missense probably damaging 1.00
R0637:Aldh3a1 UTSW 11 61,106,304 (GRCm39) unclassified probably benign
R1613:Aldh3a1 UTSW 11 61,105,377 (GRCm39) missense probably damaging 0.98
R3423:Aldh3a1 UTSW 11 61,106,362 (GRCm39) missense probably damaging 1.00
R3772:Aldh3a1 UTSW 11 61,105,431 (GRCm39) missense possibly damaging 0.86
R4673:Aldh3a1 UTSW 11 61,104,320 (GRCm39) missense probably benign
R4997:Aldh3a1 UTSW 11 61,103,137 (GRCm39) missense probably benign 0.02
R5425:Aldh3a1 UTSW 11 61,104,407 (GRCm39) missense probably benign 0.01
R5514:Aldh3a1 UTSW 11 61,108,867 (GRCm39) missense probably damaging 1.00
R5679:Aldh3a1 UTSW 11 61,107,994 (GRCm39) missense probably benign 0.00
R6150:Aldh3a1 UTSW 11 61,104,334 (GRCm39) missense probably benign
R6662:Aldh3a1 UTSW 11 61,105,481 (GRCm39) missense probably benign 0.01
R6986:Aldh3a1 UTSW 11 61,105,077 (GRCm39) missense probably damaging 1.00
R8720:Aldh3a1 UTSW 11 61,104,305 (GRCm39) missense probably benign 0.32
R8821:Aldh3a1 UTSW 11 61,107,142 (GRCm39) missense probably damaging 1.00
R8831:Aldh3a1 UTSW 11 61,107,142 (GRCm39) missense probably damaging 1.00
R9034:Aldh3a1 UTSW 11 61,104,475 (GRCm39) missense probably benign 0.01
R9599:Aldh3a1 UTSW 11 61,107,912 (GRCm39) missense probably damaging 1.00
R9793:Aldh3a1 UTSW 11 61,108,927 (GRCm39) missense probably damaging 1.00
Posted On 2015-04-16