Incidental Mutation 'R3871:Aldh1a1'
ID 276585
Institutional Source Beutler Lab
Gene Symbol Aldh1a1
Ensembl Gene ENSMUSG00000053279
Gene Name aldehyde dehydrogenase family 1, subfamily A1
Synonyms Ahd-2, Ahd2, ALDH1, Raldh1, E1
Accession Numbers
Essential gene? Probably non essential (E-score: 0.246) question?
Stock # R3871 (G1)
Quality Score 225
Status Not validated
Chromosome 19
Chromosomal Location 20492715-20643462 bp(+) (GRCm38)
Type of Mutation nonsense
DNA Base Change (assembly) T to A at 20624753 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Stop codon at position 225 (Y225*)
Ref Sequence ENSEMBL: ENSMUSP00000084918 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000087638] [ENSMUST00000225313] [ENSMUST00000225337]
AlphaFold P24549
Predicted Effect probably null
Transcript: ENSMUST00000087638
AA Change: Y225*
SMART Domains Protein: ENSMUSP00000084918
Gene: ENSMUSG00000053279
AA Change: Y225*

Pfam:Aldedh 29 492 5.1e-185 PFAM
Pfam:LuxC 147 368 2.4e-7 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000225313
Predicted Effect probably benign
Transcript: ENSMUST00000225337
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.4%
  • 20x: 95.3%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene belongs to the aldehyde dehydrogenase family. Aldehyde dehydrogenase is the next enzyme after alcohol dehydrogenase in the major pathway of alcohol metabolism. There are two major aldehyde dehydrogenase isozymes in the liver, cytosolic and mitochondrial, which are encoded by distinct genes, and can be distinguished by their electrophoretic mobility, kinetic properties, and subcellular localization. This gene encodes the cytosolic isozyme. Studies in mice show that through its role in retinol metabolism, this gene may also be involved in the regulation of the metabolic responses to high-fat diet. [provided by RefSeq, Mar 2011]
PHENOTYPE: Mice homozygous for a disruption in this gene show a significantly reduced ability to convert retinol to retinoic acid in the liver. Retinal morphology is normal even though the gene is normally highly expressed in the dorsal retina. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Bard1 T C 1: 71,074,940 (GRCm38) K294R probably benign Het
Bcap29 A T 12: 31,617,081 (GRCm38) S194T probably benign Het
Ccdc40 G A 11: 119,264,281 (GRCm38) V1116M probably damaging Het
Cntnap5a A G 1: 116,060,249 (GRCm38) E170G probably damaging Het
Crygs C T 16: 22,805,551 (GRCm38) G102D possibly damaging Het
Cyp2c54 T C 19: 40,072,423 (GRCm38) D92G probably benign Het
Dpp6 T C 5: 27,469,465 (GRCm38) F197L probably benign Het
Filip1l G T 16: 57,513,286 (GRCm38) K147N probably damaging Het
Hrnr T A 3: 93,331,874 (GRCm38) S3140T unknown Het
Igfn1 G T 1: 135,968,836 (GRCm38) H1331N probably benign Het
Kalrn C T 16: 34,203,856 (GRCm38) probably null Het
Mfng A G 15: 78,756,621 (GRCm38) L308P probably damaging Het
Nt5e C A 9: 88,364,693 (GRCm38) N327K probably benign Het
Olfr1025-ps1 T G 2: 85,918,582 (GRCm38) probably null Het
Pgbd1 C T 13: 21,434,370 (GRCm38) R39H possibly damaging Het
Phactr4 T C 4: 132,377,249 (GRCm38) T256A probably benign Het
Rab24 T C 13: 55,321,179 (GRCm38) D63G probably damaging Het
Rubcnl C T 14: 75,040,916 (GRCm38) P380L probably benign Het
Satb2 A G 1: 56,891,220 (GRCm38) S215P probably damaging Het
Serpina3b A T 12: 104,138,788 (GRCm38) I408F probably damaging Het
Setx A G 2: 29,145,741 (GRCm38) D746G probably damaging Het
Sf3a2 A C 10: 80,804,693 (GRCm38) probably benign Het
Snx33 T C 9: 56,926,740 (GRCm38) N15S probably benign Het
Snx9 C T 17: 5,891,781 (GRCm38) P61L probably benign Het
Sult2a6 T C 7: 14,254,776 (GRCm38) K20E probably benign Het
Tas2r122 A G 6: 132,711,580 (GRCm38) S117P probably benign Het
Tmem26 G A 10: 68,778,732 (GRCm38) E326K probably benign Het
Tnpo2 T A 8: 85,054,751 (GRCm38) C789S probably null Het
Togaram1 A C 12: 65,002,645 (GRCm38) E1285D probably benign Het
Ubxn7 T A 16: 32,381,430 (GRCm38) S335T possibly damaging Het
Unc119b G A 5: 115,130,508 (GRCm38) T106M probably damaging Het
Usp14 A G 18: 10,002,370 (GRCm38) S314P possibly damaging Het
Usp32 T C 11: 85,081,156 (GRCm38) D129G probably null Het
Other mutations in Aldh1a1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00916:Aldh1a1 APN 19 20,619,997 (GRCm38) missense probably benign 0.13
IGL01769:Aldh1a1 APN 19 20,642,919 (GRCm38) missense probably benign 0.29
IGL02745:Aldh1a1 APN 19 20,636,664 (GRCm38) splice site probably benign
IGL02989:Aldh1a1 APN 19 20,640,058 (GRCm38) splice site probably benign
IGL03154:Aldh1a1 APN 19 20,630,768 (GRCm38) missense probably benign 0.21
LCD18:Aldh1a1 UTSW 19 20,626,646 (GRCm38) intron probably benign
R0265:Aldh1a1 UTSW 19 20,640,076 (GRCm38) nonsense probably null
R0282:Aldh1a1 UTSW 19 20,629,049 (GRCm38) splice site probably benign
R0418:Aldh1a1 UTSW 19 20,629,049 (GRCm38) splice site probably benign
R0471:Aldh1a1 UTSW 19 20,602,013 (GRCm38) start codon destroyed probably null 0.99
R0556:Aldh1a1 UTSW 19 20,634,478 (GRCm38) missense probably damaging 1.00
R0755:Aldh1a1 UTSW 19 20,617,994 (GRCm38) missense probably benign
R1164:Aldh1a1 UTSW 19 20,617,946 (GRCm38) missense probably benign 0.11
R1692:Aldh1a1 UTSW 19 20,630,818 (GRCm38) missense probably damaging 1.00
R1905:Aldh1a1 UTSW 19 20,617,998 (GRCm38) missense probably damaging 1.00
R2127:Aldh1a1 UTSW 19 20,642,915 (GRCm38) missense probably benign 0.00
R2281:Aldh1a1 UTSW 19 20,620,091 (GRCm38) missense possibly damaging 0.88
R2475:Aldh1a1 UTSW 19 20,640,078 (GRCm38) missense probably benign
R4607:Aldh1a1 UTSW 19 20,621,687 (GRCm38) missense probably benign 0.35
R4725:Aldh1a1 UTSW 19 20,640,081 (GRCm38) missense probably benign
R4791:Aldh1a1 UTSW 19 20,619,985 (GRCm38) missense probably damaging 0.99
R4792:Aldh1a1 UTSW 19 20,619,985 (GRCm38) missense probably damaging 0.99
R4844:Aldh1a1 UTSW 19 20,634,400 (GRCm38) missense probably benign 0.00
R5639:Aldh1a1 UTSW 19 20,623,422 (GRCm38) missense probably damaging 1.00
R5669:Aldh1a1 UTSW 19 20,610,920 (GRCm38) missense probably damaging 1.00
R5815:Aldh1a1 UTSW 19 20,630,670 (GRCm38) missense probably benign 0.00
R6387:Aldh1a1 UTSW 19 20,617,959 (GRCm38) missense probably damaging 0.99
R7078:Aldh1a1 UTSW 19 20,602,070 (GRCm38) missense probably benign
R7282:Aldh1a1 UTSW 19 20,629,070 (GRCm38) missense possibly damaging 0.68
R7334:Aldh1a1 UTSW 19 20,621,711 (GRCm38) missense probably damaging 1.00
R7578:Aldh1a1 UTSW 19 20,618,002 (GRCm38) missense probably damaging 0.98
R7920:Aldh1a1 UTSW 19 20,617,937 (GRCm38) missense probably damaging 1.00
R8745:Aldh1a1 UTSW 19 20,634,443 (GRCm38) missense probably benign
R8854:Aldh1a1 UTSW 19 20,610,933 (GRCm38) nonsense probably null
R9344:Aldh1a1 UTSW 19 20,630,786 (GRCm38) missense probably damaging 0.99
R9556:Aldh1a1 UTSW 19 20,623,392 (GRCm38) missense possibly damaging 0.69
R9581:Aldh1a1 UTSW 19 20,620,053 (GRCm38) missense probably benign 0.43
R9638:Aldh1a1 UTSW 19 20,636,736 (GRCm38) missense probably benign 0.33
Predicted Primers PCR Primer

Sequencing Primer
Posted On 2015-04-06