Incidental Mutation 'R0265:Aldh1a1'
ID 34893
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
MMRRC Submission 038491-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.246) question?
Stock # R0265 (G1)
Quality Score 98
Status Validated
Chromosome 19
Chromosomal Location 20492715-20643462 bp(+) (GRCm38)
Type of Mutation nonsense
DNA Base Change (assembly) T to A at 20640076 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Stop codon at position 457 (Y457*)
Ref Sequence ENSEMBL: ENSMUSP00000084918 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000087638]
AlphaFold P24549
Predicted Effect probably null
Transcript: ENSMUST00000087638
AA Change: Y457*
SMART Domains Protein: ENSMUSP00000084918
Gene: ENSMUSG00000053279
AA Change: Y457*

Pfam:Aldedh 29 492 5.1e-185 PFAM
Pfam:LuxC 147 368 2.4e-7 PFAM
Meta Mutation Damage Score 0.9754 question?
Coding Region Coverage
  • 1x: 98.5%
  • 3x: 97.4%
  • 10x: 95.6%
  • 20x: 92.0%
Validation Efficiency 99% (83/84)
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: 82 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930452B06Rik T G 14: 8,431,667 (GRCm38) Y655S probably damaging Het
9330182L06Rik T C 5: 9,434,681 (GRCm38) L486P probably damaging Het
Abca14 A G 7: 120,223,627 (GRCm38) I321V probably benign Het
Adcy7 A G 8: 88,324,763 (GRCm38) D837G probably damaging Het
Alox5 T C 6: 116,420,362 (GRCm38) Y287C probably benign Het
Ano8 T C 8: 71,480,524 (GRCm38) probably benign Het
Ap3b1 A G 13: 94,493,681 (GRCm38) K815E unknown Het
Atp11a A T 8: 12,856,930 (GRCm38) probably benign Het
Atp6v0a1 A T 11: 101,048,515 (GRCm38) D702V possibly damaging Het
Cacna1b T A 2: 24,761,844 (GRCm38) N108Y probably damaging Het
Ccdc57 G C 11: 120,921,811 (GRCm38) A39G probably benign Het
Cdhr1 A T 14: 37,081,376 (GRCm38) V581D probably benign Het
Cyp2b23 A G 7: 26,672,879 (GRCm38) probably benign Het
D430041D05Rik G C 2: 104,167,950 (GRCm38) P1836R probably damaging Het
Ddit4l C T 3: 137,624,287 (GRCm38) probably benign Het
Dnah8 A T 17: 30,690,271 (GRCm38) I1024F probably benign Het
Edc3 T A 9: 57,727,338 (GRCm38) F213I probably damaging Het
Edrf1 G A 7: 133,657,045 (GRCm38) D717N probably damaging Het
Efna5 G A 17: 62,651,073 (GRCm38) P63S probably damaging Het
Entpd3 A G 9: 120,558,481 (GRCm38) Y248C probably damaging Het
Flcn G A 11: 59,795,809 (GRCm38) Q373* probably null Het
Fry T C 5: 150,434,776 (GRCm38) V1908A probably damaging Het
Gabrg3 A T 7: 57,381,617 (GRCm38) Y58* probably null Het
Gabrp A T 11: 33,552,614 (GRCm38) Y417N probably damaging Het
Golga2 C A 2: 32,304,952 (GRCm38) probably null Het
Grip2 C A 6: 91,773,792 (GRCm38) probably null Het
Gsx2 A G 5: 75,077,068 (GRCm38) Y227C probably damaging Het
Hif3a T C 7: 17,035,868 (GRCm38) *665W probably null Het
Hist1h2aa T C 13: 23,934,649 (GRCm38) V63A probably benign Het
Hsd3b1 C A 3: 98,852,773 (GRCm38) V301L probably damaging Het
Ifitm5 T C 7: 140,950,008 (GRCm38) probably benign Het
Inpp4a A T 1: 37,378,986 (GRCm38) D498V probably damaging Het
Itga1 A T 13: 114,992,459 (GRCm38) D554E probably benign Het
Itk G A 11: 46,389,458 (GRCm38) probably benign Het
Kdm3b T A 18: 34,795,663 (GRCm38) probably benign Het
Klhl6 A G 16: 19,948,234 (GRCm38) V470A probably benign Het
Lamb3 T A 1: 193,320,531 (GRCm38) W95R probably damaging Het
Lbhd2 T A 12: 111,410,242 (GRCm38) I41N probably damaging Het
Lrp4 A T 2: 91,490,670 (GRCm38) S1014C probably damaging Het
Ltbp2 C T 12: 84,785,969 (GRCm38) probably null Het
Map3k19 A G 1: 127,822,182 (GRCm38) I1144T possibly damaging Het
Mfsd10 T C 5: 34,635,163 (GRCm38) probably benign Het
Mocos A G 18: 24,666,276 (GRCm38) D189G probably benign Het
Mvb12a T A 8: 71,547,010 (GRCm38) F224L probably damaging Het
Myo15 A T 11: 60,514,897 (GRCm38) probably null Het
Nos2 A T 11: 78,937,602 (GRCm38) H249L probably damaging Het
Notum A G 11: 120,658,334 (GRCm38) M184T probably benign Het
Nvl C A 1: 181,134,830 (GRCm38) D192Y probably damaging Het
Olfr1024 T A 2: 85,904,247 (GRCm38) N269I probably benign Het
Olfr1065 C A 2: 86,445,959 (GRCm38) V8L probably benign Het
Olfr1308 T C 2: 111,960,494 (GRCm38) Y193C probably damaging Het
Olfr204 A T 16: 59,315,071 (GRCm38) F112Y probably damaging Het
Olfr218 A G 1: 173,203,917 (GRCm38) K187R probably benign Het
Osgin1 A G 8: 119,445,657 (GRCm38) I397V possibly damaging Het
Otulin A G 15: 27,616,424 (GRCm38) V123A probably damaging Het
P4ha1 A G 10: 59,348,259 (GRCm38) Y181C probably damaging Het
Pcdhgc5 A T 18: 37,821,350 (GRCm38) D559V probably damaging Het
Phf2 T C 13: 48,828,794 (GRCm38) N151S unknown Het
Plxnc1 C A 10: 94,813,129 (GRCm38) G1263C probably benign Het
Rad51ap1 A G 6: 126,924,197 (GRCm38) *338Q probably null Het
Raver1 A G 9: 21,075,659 (GRCm38) S676P probably benign Het
Rfx8 T C 1: 39,688,577 (GRCm38) E196G possibly damaging Het
Rreb1 A T 13: 37,916,155 (GRCm38) K187* probably null Het
Rxfp1 T C 3: 79,667,654 (GRCm38) T217A probably benign Het
Rxra T C 2: 27,752,430 (GRCm38) L305P probably damaging Het
Sardh T C 2: 27,227,066 (GRCm38) probably benign Het
Skor2 A T 18: 76,876,598 (GRCm38) E952D probably damaging Het
Slc22a29 A T 19: 8,169,970 (GRCm38) S343T probably benign Het
Sorbs2 T C 8: 45,785,337 (GRCm38) probably benign Het
Supt7l C T 5: 31,515,918 (GRCm38) V329I probably benign Het
Taar2 G A 10: 23,941,495 (GRCm38) R311H probably benign Het
Tac1 T C 6: 7,559,165 (GRCm38) probably benign Het
Tcn2 A T 11: 3,922,044 (GRCm38) V361D probably damaging Het
Tm2d3 G A 7: 65,697,834 (GRCm38) A170T possibly damaging Het
Tnks G A 8: 34,839,970 (GRCm38) R1142* probably null Het
Ttll7 C A 3: 146,944,160 (GRCm38) Y648* probably null Het
Umod G T 7: 119,466,073 (GRCm38) Q578K probably benign Het
Upf2 G A 2: 6,027,204 (GRCm38) probably benign Het
Vmn2r92 C T 17: 18,167,957 (GRCm38) A408V probably damaging Het
Washc5 A G 15: 59,338,960 (GRCm38) I1013T probably benign Het
Wdr60 T C 12: 116,257,406 (GRCm38) probably benign Het
Zfp704 C A 3: 9,565,157 (GRCm38) R48L probably damaging 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
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
R3871:Aldh1a1 UTSW 19 20,624,753 (GRCm38) nonsense probably null
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 2013-05-09