Incidental Mutation 'R0282:Aldh1a1'
ID 37652
Institutional Source Beutler Lab
Gene Symbol Aldh1a1
Ensembl Gene ENSMUSG00000053279
Gene Name aldehyde dehydrogenase family 1, subfamily A1
Synonyms Ahd-2, Ahd2, ALDH1, E1, Raldh1
MMRRC Submission 038504-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.262) question?
Stock # R0282 (G1)
Quality Score 225
Status Validated
Chromosome 19
Chromosomal Location 20470079-20620829 bp(+) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) T to C at 20606413 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000084918 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000087638]
AlphaFold P24549
Predicted Effect probably benign
Transcript: ENSMUST00000087638
SMART Domains Protein: ENSMUSP00000084918
Gene: ENSMUSG00000053279

DomainStartEndE-ValueType
Pfam:Aldedh 29 492 5.1e-185 PFAM
Pfam:LuxC 147 368 2.4e-7 PFAM
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.4%
  • 10x: 96.6%
  • 20x: 93.7%
Validation Efficiency 100% (72/72)
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: 69 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acsbg3 T A 17: 57,192,169 (GRCm39) Y577* probably null Het
Afap1l2 A G 19: 56,904,653 (GRCm39) S549P possibly damaging Het
Alcam A T 16: 52,116,104 (GRCm39) C157S probably damaging Het
Ano8 G A 8: 71,933,258 (GRCm39) probably benign Het
Atr T C 9: 95,744,851 (GRCm39) V56A probably benign Het
Aurkc T A 7: 7,005,427 (GRCm39) probably null Het
Bnip3 T C 7: 138,499,759 (GRCm39) D76G probably damaging Het
Cbr1 A G 16: 93,407,022 (GRCm39) E246G possibly damaging Het
Ccdc157 G T 11: 4,096,708 (GRCm39) A449D probably damaging Het
Ces3b T A 8: 105,810,483 (GRCm39) V26D probably benign Het
Colgalt2 G T 1: 152,384,312 (GRCm39) A551S possibly damaging Het
Crk G T 11: 75,594,195 (GRCm39) G261C probably damaging Het
Ctbp1 A G 5: 33,408,200 (GRCm39) probably null Het
Ctnna1 G A 18: 35,377,175 (GRCm39) V572I possibly damaging Het
D430041D05Rik T C 2: 104,031,589 (GRCm39) Y1669C probably damaging Het
Dnah8 T C 17: 30,955,130 (GRCm39) F2053S probably damaging Het
Dner G A 1: 84,383,686 (GRCm39) T566M probably damaging Het
Dner A G 1: 84,423,101 (GRCm39) probably benign Het
Edrf1 T C 7: 133,245,751 (GRCm39) V223A probably benign Het
Fam169a A G 13: 97,234,223 (GRCm39) probably benign Het
Fbxl3 G A 14: 103,332,661 (GRCm39) H106Y probably damaging Het
Fiz1 A G 7: 5,012,200 (GRCm39) V106A probably benign Het
Gapvd1 T A 2: 34,578,972 (GRCm39) R654* probably null Het
Gm7589 G A 9: 59,053,288 (GRCm39) noncoding transcript Het
Ifi202b A T 1: 173,804,926 (GRCm39) S9T probably benign Het
Ipmk G C 10: 71,208,661 (GRCm39) S149T probably benign Het
Irgm2 A G 11: 58,110,345 (GRCm39) E24G probably benign Het
Itga2b A C 11: 102,351,672 (GRCm39) V551G probably damaging Het
Itgad C T 7: 127,789,150 (GRCm39) probably benign Het
Kcnh8 T A 17: 53,032,879 (GRCm39) F55L probably damaging Het
Kdr G A 5: 76,110,760 (GRCm39) probably benign Het
Krt35 T C 11: 99,986,573 (GRCm39) Y147C probably damaging Het
Lamc1 A G 1: 153,131,058 (GRCm39) F298L probably benign Het
Lrrk2 T C 15: 91,662,617 (GRCm39) probably benign Het
Matn1 T C 4: 130,673,238 (GRCm39) S69P probably damaging Het
Micall1 G T 15: 79,016,101 (GRCm39) probably benign Het
Msto1 A G 3: 88,818,884 (GRCm39) V257A possibly damaging Het
Mybpc3 G C 2: 90,954,369 (GRCm39) probably benign Het
Mycn A G 12: 12,987,314 (GRCm39) V361A probably benign Het
Myo10 A G 15: 25,793,253 (GRCm39) T1277A probably damaging Het
Myo3a T C 2: 22,250,409 (GRCm39) I92T probably benign Het
Nup50l T C 6: 96,141,797 (GRCm39) T416A probably benign Het
Or10g1 A G 14: 52,647,720 (GRCm39) V203A possibly damaging Het
Or2k2 A G 4: 58,785,344 (GRCm39) I126T probably damaging Het
Or4c104 G A 2: 88,586,800 (GRCm39) T73I probably damaging Het
Or56b1b T A 7: 108,164,684 (GRCm39) Q106L probably damaging Het
Otog C T 7: 45,926,917 (GRCm39) T1222I possibly damaging Het
P4ha1 C T 10: 59,172,970 (GRCm39) T23M probably damaging Het
Pld1 A T 3: 28,132,422 (GRCm39) I537F probably benign Het
Plekhn1 A G 4: 156,312,780 (GRCm39) probably benign Het
Pxdn C A 12: 30,034,439 (GRCm39) S8* probably null Het
Rnf135 A T 11: 80,084,784 (GRCm39) I186F probably damaging Het
Rock2 T C 12: 17,027,887 (GRCm39) probably benign Het
Rph3a C A 5: 121,101,973 (GRCm39) G88* probably null Het
Sarm1 G A 11: 78,365,806 (GRCm39) Q740* probably null Het
Setd1b C A 5: 123,299,080 (GRCm39) probably benign Het
Sidt1 A G 16: 44,102,249 (GRCm39) S304P possibly damaging Het
Slc2a4 A T 11: 69,837,181 (GRCm39) V85E probably damaging Het
Swi5 A G 2: 32,170,766 (GRCm39) Y54H probably damaging Het
Sycp1 A G 3: 102,823,111 (GRCm39) probably benign Het
Tarm1 T C 7: 3,546,006 (GRCm39) Y87C probably damaging Het
Tmem67 G A 4: 12,087,930 (GRCm39) T72M probably damaging Het
Tor1a A G 2: 30,857,737 (GRCm39) Y44H possibly damaging Het
Ttll5 T C 12: 86,042,827 (GRCm39) Y1128H probably benign Het
Usp40 G A 1: 87,908,680 (GRCm39) probably benign Het
Vmn2r18 A T 5: 151,508,668 (GRCm39) M152K probably benign Het
Xirp2 T A 2: 67,343,724 (GRCm39) D1988E probably damaging Het
Zfp420 A G 7: 29,575,105 (GRCm39) I442V probably benign Het
Zyx A G 6: 42,332,939 (GRCm39) E363G probably damaging Het
Other mutations in Aldh1a1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00916:Aldh1a1 APN 19 20,597,361 (GRCm39) missense probably benign 0.13
IGL01769:Aldh1a1 APN 19 20,620,283 (GRCm39) missense probably benign 0.29
IGL02745:Aldh1a1 APN 19 20,614,028 (GRCm39) splice site probably benign
IGL02989:Aldh1a1 APN 19 20,617,422 (GRCm39) splice site probably benign
IGL03154:Aldh1a1 APN 19 20,608,132 (GRCm39) missense probably benign 0.21
LCD18:Aldh1a1 UTSW 19 20,604,010 (GRCm39) intron probably benign
R0265:Aldh1a1 UTSW 19 20,617,440 (GRCm39) nonsense probably null
R0418:Aldh1a1 UTSW 19 20,606,413 (GRCm39) splice site probably benign
R0471:Aldh1a1 UTSW 19 20,579,377 (GRCm39) start codon destroyed probably null 0.99
R0556:Aldh1a1 UTSW 19 20,611,842 (GRCm39) missense probably damaging 1.00
R0755:Aldh1a1 UTSW 19 20,595,358 (GRCm39) missense probably benign
R1164:Aldh1a1 UTSW 19 20,595,310 (GRCm39) missense probably benign 0.11
R1692:Aldh1a1 UTSW 19 20,608,182 (GRCm39) missense probably damaging 1.00
R1905:Aldh1a1 UTSW 19 20,595,362 (GRCm39) missense probably damaging 1.00
R2127:Aldh1a1 UTSW 19 20,620,279 (GRCm39) missense probably benign 0.00
R2281:Aldh1a1 UTSW 19 20,597,455 (GRCm39) missense possibly damaging 0.88
R2475:Aldh1a1 UTSW 19 20,617,442 (GRCm39) missense probably benign
R3871:Aldh1a1 UTSW 19 20,602,117 (GRCm39) nonsense probably null
R4607:Aldh1a1 UTSW 19 20,599,051 (GRCm39) missense probably benign 0.35
R4725:Aldh1a1 UTSW 19 20,617,445 (GRCm39) missense probably benign
R4791:Aldh1a1 UTSW 19 20,597,349 (GRCm39) missense probably damaging 0.99
R4792:Aldh1a1 UTSW 19 20,597,349 (GRCm39) missense probably damaging 0.99
R4844:Aldh1a1 UTSW 19 20,611,764 (GRCm39) missense probably benign 0.00
R5639:Aldh1a1 UTSW 19 20,600,786 (GRCm39) missense probably damaging 1.00
R5669:Aldh1a1 UTSW 19 20,588,284 (GRCm39) missense probably damaging 1.00
R5815:Aldh1a1 UTSW 19 20,608,034 (GRCm39) missense probably benign 0.00
R6387:Aldh1a1 UTSW 19 20,595,323 (GRCm39) missense probably damaging 0.99
R7078:Aldh1a1 UTSW 19 20,579,434 (GRCm39) missense probably benign
R7282:Aldh1a1 UTSW 19 20,606,434 (GRCm39) missense possibly damaging 0.68
R7334:Aldh1a1 UTSW 19 20,599,075 (GRCm39) missense probably damaging 1.00
R7578:Aldh1a1 UTSW 19 20,595,366 (GRCm39) missense probably damaging 0.98
R7920:Aldh1a1 UTSW 19 20,595,301 (GRCm39) missense probably damaging 1.00
R8745:Aldh1a1 UTSW 19 20,611,807 (GRCm39) missense probably benign
R8854:Aldh1a1 UTSW 19 20,588,297 (GRCm39) nonsense probably null
R9344:Aldh1a1 UTSW 19 20,608,150 (GRCm39) missense probably damaging 0.99
R9556:Aldh1a1 UTSW 19 20,600,756 (GRCm39) missense possibly damaging 0.69
R9581:Aldh1a1 UTSW 19 20,597,417 (GRCm39) missense probably benign 0.43
R9638:Aldh1a1 UTSW 19 20,614,100 (GRCm39) missense probably benign 0.33
Predicted Primers PCR Primer
(F):5'- GCCCTCTCATGCAAGTCAAGTCTC -3'
(R):5'- ACTGTGACAGGATCAGGCATCAGG -3'

Sequencing Primer
(F):5'- GCAAGTCAAGTCTCTCTAGGTAACTG -3'
(R):5'- TCAGGAGGAAGATGATGAGATGC -3'
Posted On 2013-05-23