Incidental Mutation 'R6662:Aldh3a1'
ID 528030
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 044782-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6662 (G1)
Quality Score 225.009
Status Validated
Chromosome 11
Chromosomal Location 61099336-61109244 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 61105481 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Isoleucine at position 196 (V196I)
Ref Sequence ENSEMBL: ENSMUSP00000104356 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000019246] [ENSMUST00000108716] [ENSMUST00000147792]
AlphaFold P47739
Predicted Effect probably benign
Transcript: ENSMUST00000019246
AA Change: V196I

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
SMART Domains Protein: ENSMUSP00000019246
Gene: ENSMUSG00000019102
AA Change: V196I

DomainStartEndE-ValueType
Pfam:Aldedh 1 428 3.6e-96 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000108716
AA Change: V196I

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
SMART Domains Protein: ENSMUSP00000104356
Gene: ENSMUSG00000019102
AA Change: V196I

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 0.0898 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.2%
  • 20x: 94.8%
Validation Efficiency 100% (46/46)
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: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ablim1 A G 19: 57,062,285 (GRCm39) probably null Het
Acox1 A G 11: 116,066,149 (GRCm39) Y418H probably damaging Het
Akr1b1 C T 6: 34,286,939 (GRCm39) V206M possibly damaging Het
Aox3 A G 1: 58,157,774 (GRCm39) K44E probably damaging Het
Bad T A 19: 6,928,438 (GRCm39) probably benign Het
BC034090 G T 1: 155,102,085 (GRCm39) Q60K possibly damaging Het
Casp6 A G 3: 129,705,875 (GRCm39) T181A probably benign Het
Catsperg2 G A 7: 29,418,938 (GRCm39) probably benign Het
Ccdc14 T C 16: 34,511,164 (GRCm39) L46P probably damaging Het
Ces1b A G 8: 93,790,697 (GRCm39) L364S probably benign Het
Cfap45 T C 1: 172,357,417 (GRCm39) I15T probably benign Het
Dph5 G A 3: 115,722,205 (GRCm39) E228K probably benign Het
Fat4 G T 3: 39,010,970 (GRCm39) L2023F possibly damaging Het
Garem1 T C 18: 21,281,304 (GRCm39) N351D probably benign Het
Grm2 C T 9: 106,525,252 (GRCm39) A488T probably benign Het
Ifit3b A G 19: 34,589,337 (GRCm39) E171G probably damaging Het
Il1rn A T 2: 24,226,887 (GRCm39) probably null Het
Itih5 A T 2: 10,253,992 (GRCm39) I748F probably benign Het
Kcnh5 C A 12: 75,054,385 (GRCm39) D520Y probably damaging Het
Mgat5 C A 1: 127,396,974 (GRCm39) H574N probably damaging Het
Moxd1 A C 10: 24,160,658 (GRCm39) D437A probably damaging Het
Mybpc2 A G 7: 44,155,590 (GRCm39) F888L probably benign Het
Ncs1 T A 2: 31,177,372 (GRCm39) L183Q probably damaging Het
Neto2 A T 8: 86,389,844 (GRCm39) D206E probably damaging Het
Omp A G 7: 97,794,546 (GRCm39) L27P probably damaging Het
Oxsm A G 14: 16,242,287 (GRCm38) S161P probably benign Het
Pate6 C A 9: 35,701,296 (GRCm39) R6M possibly damaging Het
Pde4b A G 4: 102,459,095 (GRCm39) I381M possibly damaging Het
Pramel5 A T 4: 143,999,675 (GRCm39) N137K probably benign Het
Prss33 T C 17: 24,052,934 (GRCm39) S247G probably damaging Het
Rassf9 T A 10: 102,381,899 (GRCm39) L425Q possibly damaging Het
Setx A T 2: 29,048,126 (GRCm39) D1909V probably damaging Het
Slc26a3 A T 12: 31,507,345 (GRCm39) K402* probably null Het
Slco1a6 G A 6: 142,078,941 (GRCm39) T118I probably damaging Het
Syne1 A G 10: 5,078,416 (GRCm39) L6769P probably damaging Het
Tas2r107 A T 6: 131,636,452 (GRCm39) V199D possibly damaging Het
Tchp A G 5: 114,858,076 (GRCm39) probably null Het
Trdn A T 10: 33,350,483 (GRCm39) N684I probably damaging Het
Trio G T 15: 27,855,082 (GRCm39) T700K probably benign Het
Ttn C T 2: 76,586,242 (GRCm39) V20084I probably benign Het
Ubl3 A T 5: 148,446,116 (GRCm39) Y62* probably null Het
Uckl1 A G 2: 181,215,053 (GRCm39) Y267H possibly damaging Het
Zfp1005 G A 2: 150,108,172 (GRCm39) probably null Het
Zfp786 T C 6: 47,803,920 (GRCm39) N41D probably damaging Het
Zfp983 T C 17: 21,881,001 (GRCm39) S310P 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
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
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'- TGCCCATGTAAGAGCTGAGG -3'
(R):5'- GCCATAAAACTTGATACCATCATGG -3'

Sequencing Primer
(F):5'- GCAGCCAGTCTCCCATTG -3'
(R):5'- CCATCATGGTAGTAGCAAGGTAG -3'
Posted On 2018-07-24