Incidental Mutation 'R3423:Aldh3a1'
ID 267126
Institutional Source Beutler Lab
Gene Symbol Aldh3a1
Ensembl Gene ENSMUSG00000019102
Gene Name aldehyde dehydrogenase family 3, subfamily A1
Synonyms Ahd-4, Aldh, Aldh3, Ahd4
MMRRC Submission 040641-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R3423 (G1)
Quality Score 225
Status Validated
Chromosome 11
Chromosomal Location 61099336-61109244 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 61106362 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Threonine at position 246 (A246T)
Ref Sequence ENSEMBL: ENSMUSP00000104356 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000019246] [ENSMUST00000108716] [ENSMUST00000147792]
AlphaFold P47739
Predicted Effect probably damaging
Transcript: ENSMUST00000019246
AA Change: A246T

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000019246
Gene: ENSMUSG00000019102
AA Change: A246T

DomainStartEndE-ValueType
Pfam:Aldedh 1 428 3.6e-96 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000108716
AA Change: A246T

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000104356
Gene: ENSMUSG00000019102
AA Change: A246T

DomainStartEndE-ValueType
Pfam:Aldedh 1 428 4.1e-98 PFAM
Pfam:LuxC 4 389 9.8e-11 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000147792
Meta Mutation Damage Score 0.4451 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 94.7%
Validation Efficiency 100% (38/38)
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
Akap8 A G 17: 32,535,429 (GRCm39) F195S possibly damaging Het
Caskin1 T A 17: 24,718,539 (GRCm39) N331K probably damaging Het
Ceacam5 G A 7: 17,491,562 (GRCm39) S644N possibly damaging Het
Csmd3 A T 15: 47,710,648 (GRCm39) D1646E probably damaging Het
Cyp4a12a A C 4: 115,184,471 (GRCm39) K282T probably benign Het
Dtnb C T 12: 3,641,962 (GRCm39) R42* probably null Het
Dyrk3 A G 1: 131,057,219 (GRCm39) I318T probably damaging Het
Fhip2b G A 14: 70,824,025 (GRCm39) T535M probably damaging Het
Gm11110 T C 17: 57,410,435 (GRCm39) probably benign Het
Gm8674 T A 13: 50,055,792 (GRCm39) noncoding transcript Het
Igfn1 A G 1: 135,926,379 (GRCm39) S24P probably benign Het
Inpp4b A G 8: 82,678,890 (GRCm39) M307V possibly damaging Het
Ism2 T C 12: 87,333,871 (GRCm39) N58S probably benign Het
Kmt2a A C 9: 44,731,394 (GRCm39) probably benign Het
Limk1 A G 5: 134,701,523 (GRCm39) probably null Het
Lrrc14 T A 15: 76,597,318 (GRCm39) probably null Het
Mapt C T 11: 104,189,548 (GRCm39) R189* probably null Het
Meltf C T 16: 31,715,343 (GRCm39) R679* probably null Het
Muc6 G A 7: 141,218,313 (GRCm39) S2120F possibly damaging Het
Mug2 T C 6: 122,024,465 (GRCm39) probably benign Het
Myo15a G A 11: 60,401,126 (GRCm39) probably null Het
Nup98 T C 7: 101,834,084 (GRCm39) T293A probably benign Het
Nwd2 A T 5: 63,957,504 (GRCm39) Y278F probably damaging Het
Or12d12 T A 17: 37,610,761 (GRCm39) D184V probably benign Het
Phactr4 A C 4: 132,097,058 (GRCm39) D496E probably benign Het
Pramel6 T A 2: 87,341,140 (GRCm39) probably null Het
Ptprq C T 10: 107,418,337 (GRCm39) A1680T probably damaging Het
Retnlb T A 16: 48,639,008 (GRCm39) C70S probably damaging Het
Ros1 C A 10: 52,004,512 (GRCm39) probably null Het
Sez6l T C 5: 112,574,615 (GRCm39) D875G probably damaging Het
Slc18b1 T G 10: 23,698,874 (GRCm39) M348R probably damaging Het
Slc36a3 G T 11: 55,033,607 (GRCm39) T137K probably benign Het
Sos2 T C 12: 69,650,327 (GRCm39) N865D probably damaging Het
Sp9 G A 2: 73,104,315 (GRCm39) A290T probably benign Het
Spg11 C T 2: 121,901,534 (GRCm39) V1469I probably benign Het
Unc13c G T 9: 73,837,935 (GRCm39) A972D possibly damaging Het
Vwa3a T C 7: 120,398,334 (GRCm39) L945P probably 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
IGL02281:Aldh3a1 APN 11 61,107,949 (GRCm39) splice site probably null
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
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
Predicted Primers PCR Primer
(F):5'- TTGCAGAAAGCCCTGTGGTG -3'
(R):5'- CAGGTACCCTGTCACCACATTG -3'

Sequencing Primer
(F):5'- ACCAGCTCAGTGTGTCTGTCAG -3'
(R):5'- CACCACATTGTATTTCATAAACAGC -3'
Posted On 2015-02-18