Incidental Mutation 'IGL00833:Aldh3a1'
ID8767
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Aldh3a1
Ensembl Gene ENSMUSG00000019102
Gene Namealdehyde dehydrogenase family 3, subfamily A1
SynonymsAhd4, Ahd-4, Aldh3, Aldh
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL00833
Quality Score
Status
Chromosome11
Chromosomal Location61207537-61218421 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 61217180 bp
ZygosityHeterozygous
Amino Acid Change Glutamic Acid to Glycine at position 350 (E350G)
Ref Sequence ENSEMBL: ENSMUSP00000104356 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000019246] [ENSMUST00000108716] [ENSMUST00000147792]
Predicted Effect probably damaging
Transcript: ENSMUST00000019246
AA Change: E350G

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000019246
Gene: ENSMUSG00000019102
AA Change: E350G

DomainStartEndE-ValueType
Pfam:Aldedh 1 428 3.6e-96 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000108716
AA Change: E350G

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000104356
Gene: ENSMUSG00000019102
AA Change: E350G

DomainStartEndE-ValueType
Pfam:Aldedh 1 428 4.1e-98 PFAM
Pfam:LuxC 4 389 9.8e-11 PFAM
Predicted Effect probably benign
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: 22 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Apob T C 12: 8,010,101 V2861A probably benign Het
Bpifb9a C T 2: 154,264,275 Q358* probably null Het
Cbfa2t2 T A 2: 154,528,875 Y423N probably damaging Het
Cd209e A C 8: 3,852,800 M102R probably benign Het
Ddx42 T A 11: 106,231,178 V173D possibly damaging Het
Dnah11 A G 12: 118,179,580 F443L probably damaging Het
Exoc4 G A 6: 33,971,924 E901K probably damaging Het
Gp5 T C 16: 30,309,466 D130G possibly damaging Het
H2-T3 T G 17: 36,187,041 S327R probably benign Het
Myo1e T C 9: 70,338,778 I417T probably damaging Het
Nasp A G 4: 116,602,736 V377A probably damaging Het
Nbn A G 4: 15,964,320 I132V probably benign Het
Nckap5 C A 1: 126,027,152 K622N probably damaging Het
Nlrp4e G A 7: 23,340,471 V740I probably benign Het
Polr3gl T G 3: 96,578,560 D130A probably damaging Het
Ptprc T C 1: 138,078,492 K784R possibly damaging Het
Sycp1 A G 3: 102,876,301 probably null Het
Tg C T 15: 66,688,801 T1004I probably benign Het
Tmco5b T A 2: 113,296,849 I255N probably damaging Het
Ubr4 G A 4: 139,393,159 probably null Het
Zeb1 A G 18: 5,767,774 T762A probably benign Het
Zfp345 T C 2: 150,472,729 E296G probably damaging Het
Other mutations in Aldh3a1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00510:Aldh3a1 APN 11 61213596 missense probably damaging 1.00
IGL02281:Aldh3a1 APN 11 61217123 unclassified probably null
IGL02608:Aldh3a1 APN 11 61216321 missense probably damaging 1.00
IGL03294:Aldh3a1 APN 11 61214722 missense probably damaging 1.00
R0006:Aldh3a1 UTSW 11 61217101 missense probably damaging 1.00
R0453:Aldh3a1 UTSW 11 61215512 missense probably benign 0.01
R0612:Aldh3a1 UTSW 11 61214619 missense probably damaging 1.00
R0637:Aldh3a1 UTSW 11 61215478 unclassified probably benign
R1613:Aldh3a1 UTSW 11 61214551 missense probably damaging 0.98
R3423:Aldh3a1 UTSW 11 61215536 missense probably damaging 1.00
R3772:Aldh3a1 UTSW 11 61214605 missense possibly damaging 0.86
R4673:Aldh3a1 UTSW 11 61213494 missense probably benign
R4997:Aldh3a1 UTSW 11 61212311 missense probably benign 0.02
R5425:Aldh3a1 UTSW 11 61213581 missense probably benign 0.01
R5514:Aldh3a1 UTSW 11 61218041 missense probably damaging 1.00
R5679:Aldh3a1 UTSW 11 61217168 missense probably benign 0.00
R6150:Aldh3a1 UTSW 11 61213508 missense probably benign
R6662:Aldh3a1 UTSW 11 61214655 missense probably benign 0.01
R6986:Aldh3a1 UTSW 11 61214251 missense probably damaging 1.00
Posted On2012-12-06