Incidental Mutation 'IGL02608:Aldh3a1'
ID300383
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 #IGL02608
Quality Score
Status
Chromosome11
Chromosomal Location61207537-61218421 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 61216321 bp
ZygosityHeterozygous
Amino Acid Change Arginine to Glycine at position 284 (R284G)
Ref Sequence ENSEMBL: ENSMUSP00000104356 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000019246] [ENSMUST00000108716] [ENSMUST00000147792]
Predicted Effect probably damaging
Transcript: ENSMUST00000019246
AA Change: R284G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000019246
Gene: ENSMUSG00000019102
AA Change: R284G

DomainStartEndE-ValueType
Pfam:Aldedh 1 428 3.6e-96 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000108716
AA Change: R284G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000104356
Gene: ENSMUSG00000019102
AA Change: R284G

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: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aaas T A 15: 102,339,192 M415L probably benign Het
Akap6 T C 12: 53,010,606 S952P probably benign Het
Aldh3b1 G T 19: 3,914,061 H414N probably damaging Het
Chd5 G A 4: 152,356,107 M141I possibly damaging Het
Cntn2 C T 1: 132,525,916 A340T possibly damaging Het
Daw1 T A 1: 83,209,334 C288* probably null Het
Dcn A G 10: 97,483,457 E32G probably damaging Het
Dock5 C T 14: 67,828,439 V372M probably benign Het
Etf1 T C 18: 34,931,617 E13G probably damaging Het
Filip1l A G 16: 57,572,106 E781G probably benign Het
Gm8989 T A 7: 106,329,669 noncoding transcript Het
Gucy1a2 A G 9: 3,635,113 I386V probably damaging Het
Hoxb5 T A 11: 96,305,143 probably benign Het
Iqch T A 9: 63,421,828 probably benign Het
Itgal C T 7: 127,310,244 P423S probably damaging Het
Kti12 T G 4: 108,848,162 L91R probably damaging Het
Lgals3 T C 14: 47,385,601 M239T probably benign Het
Lrrc8a T C 2: 30,256,299 M375T possibly damaging Het
Ly75 T C 2: 60,321,900 E1103G probably benign Het
Lyst A T 13: 13,712,754 E3056V probably damaging Het
Map3k7 T C 4: 31,981,452 probably benign Het
Ncor1 G A 11: 62,373,214 T180I probably benign Het
Nectin4 T C 1: 171,384,773 V313A probably benign Het
Nol4l A G 2: 153,436,293 S8P possibly damaging Het
Npas2 T A 1: 39,345,446 S607T probably benign Het
Nup155 T A 15: 8,109,471 M9K probably benign Het
Nwd1 T C 8: 72,667,375 L422P probably damaging Het
Olfr114 T A 17: 37,590,219 I45F probably damaging Het
Papola G T 12: 105,809,559 G245C probably damaging Het
Pcdhb6 T C 18: 37,334,694 S223P probably damaging Het
Pdcd4 T C 19: 53,927,207 probably null Het
Pigg T C 5: 108,313,003 F27L probably damaging Het
Prpf40a A T 2: 53,146,153 M588K probably damaging Het
Psme4 A G 11: 30,820,944 N764S probably benign Het
Ptar1 A C 19: 23,705,712 E110A possibly damaging Het
Rbm12 A T 2: 156,095,898 probably benign Het
Rfx7 A G 9: 72,617,294 T589A probably benign Het
Rpl21-ps4 G T 14: 11,227,831 noncoding transcript Het
Rpp38 T C 2: 3,329,161 T235A probably benign Het
Sbno2 A T 10: 80,067,402 probably null Het
Scn3a A T 2: 65,524,166 C337* probably null Het
Sec61a2 T C 2: 5,874,262 T312A probably benign Het
Snrpg C A 6: 86,376,568 D43E probably damaging Het
Stag1 A T 9: 100,757,769 Q126L probably null Het
Taar6 A G 10: 23,985,183 V155A probably benign Het
Tet1 G A 10: 62,879,609 H136Y possibly damaging Het
Tet1 C A 10: 62,839,087 S1070I probably damaging Het
Tfcp2 T C 15: 100,514,110 T327A possibly damaging Het
Tnfrsf13c C T 15: 82,223,163 V144M probably damaging Het
Tnfrsf22 T A 7: 143,644,796 K61* probably null Het
Trhr T C 15: 44,197,678 V198A probably benign Het
Trp53inp2 A G 2: 155,386,649 R175G probably damaging Het
Try10 G A 6: 41,355,487 G26R probably damaging Het
Vmn1r205 A G 13: 22,592,200 V244A probably damaging Het
Wrnip1 T A 13: 32,806,874 L372H probably damaging Het
Zfp280d T A 9: 72,307,979 L149Q probably damaging Het
Zfp445 A G 9: 122,861,875 V85A probably damaging Het
Other mutations in Aldh3a1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00510:Aldh3a1 APN 11 61213596 missense probably damaging 1.00
IGL00833:Aldh3a1 APN 11 61217180 missense probably damaging 0.99
IGL02281:Aldh3a1 APN 11 61217123 unclassified probably null
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 On2015-04-16