Incidental Mutation 'R7334:Aldh1a1'
ID 569403
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 045371-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.246) question?
Stock # R7334 (G1)
Quality Score 225.009
Status Validated
Chromosome 19
Chromosomal Location 20492715-20643462 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to A at 20621711 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Valine to Glutamic Acid at position 162 (V162E)
Ref Sequence ENSEMBL: ENSMUSP00000084918 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000087638] [ENSMUST00000225313] [ENSMUST00000225337]
AlphaFold P24549
Predicted Effect probably damaging
Transcript: ENSMUST00000087638
AA Change: V162E

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000084918
Gene: ENSMUSG00000053279
AA Change: V162E

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
Meta Mutation Damage Score 0.9725 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency 99% (75/76)
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: 74 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acadm G T 3: 153,939,061 (GRCm38) S9* probably null Het
Acot10 C T 15: 20,665,543 (GRCm38) V371I possibly damaging Het
Adam8 T C 7: 139,988,990 (GRCm38) E199G probably damaging Het
Aldh18a1 A T 19: 40,551,252 (GRCm38) W762R probably damaging Het
Alms1 A G 6: 85,641,450 (GRCm38) D2357G probably damaging Het
Arfgef1 G T 1: 10,184,460 (GRCm38) Q718K probably damaging Het
Arid5b A C 10: 68,243,177 (GRCm38) V110G possibly damaging Het
Bpifb3 T A 2: 153,919,734 (GRCm38) D34E probably damaging Het
Cacfd1 C T 2: 27,015,546 (GRCm38) A85V possibly damaging Het
Cep57l1 C A 10: 41,721,600 (GRCm38) S345I probably benign Het
Clca3b G A 3: 144,836,656 (GRCm38) R462* probably null Het
Cyp26c1 G A 19: 37,688,875 (GRCm38) V251I probably benign Het
Dip2a A G 10: 76,274,246 (GRCm38) S1179P possibly damaging Het
Dnal1 T C 12: 84,127,006 (GRCm38) L27P probably damaging Het
Dock7 A G 4: 98,975,943 (GRCm38) V1288A unknown Het
Elmod1 A T 9: 53,934,224 (GRCm38) probably null Het
Epb41l5 T G 1: 119,623,949 (GRCm38) K102T probably damaging Het
Fam92b T C 8: 120,174,850 (GRCm38) T39A probably damaging Het
Fermt3 T C 19: 7,003,038 (GRCm38) I358V probably benign Het
Frmd3 A G 4: 74,161,718 (GRCm38) I316V probably benign Het
Fryl T C 5: 73,047,496 (GRCm38) probably null Het
Gm12394 G A 4: 42,793,856 (GRCm38) T92I possibly damaging Het
Gm4131 T A 14: 62,464,907 (GRCm38) H204L possibly damaging Het
Gm8298 T A 3: 59,868,959 (GRCm38) C184S probably damaging Het
Hmcn2 A G 2: 31,453,135 (GRCm38) S4558G possibly damaging Het
Hmcn2 G A 2: 31,435,794 (GRCm38) G4278R probably damaging Het
Igkv1-132 A G 6: 67,760,124 (GRCm38) T25A probably benign Het
Kcp T C 6: 29,485,512 (GRCm38) E1161G probably damaging Het
Macf1 A T 4: 123,399,442 (GRCm38) I5371K probably damaging Het
Malrd1 T A 2: 16,006,718 (GRCm38) C1670S probably damaging Het
Mfsd13a T A 19: 46,368,370 (GRCm38) V270E probably damaging Het
Mroh1 A G 15: 76,427,638 (GRCm38) I524V probably benign Het
Mta1 T C 12: 113,126,798 (GRCm38) S175P possibly damaging Het
Myo7a C T 7: 98,079,366 (GRCm38) R800H probably benign Het
Ncald T A 15: 37,397,280 (GRCm38) Y52F probably damaging Het
Nomo1 T C 7: 46,083,268 (GRCm38) S1152P probably damaging Het
Nr3c1 A G 18: 39,487,037 (GRCm38) F66L probably benign Het
Nrf1 T C 6: 30,118,971 (GRCm38) L363S probably benign Het
Olfr732 C A 14: 50,281,579 (GRCm38) V225F probably benign Het
Olfr875 A T 9: 37,772,997 (GRCm38) I113F probably damaging Het
Osbpl3 A G 6: 50,344,906 (GRCm38) M300T possibly damaging Het
Parpbp T A 10: 88,111,755 (GRCm38) N339I probably damaging Het
Pdlim5 A T 3: 142,244,917 (GRCm38) H578Q probably damaging Het
Pear1 T C 3: 87,750,225 (GRCm38) N1009S probably damaging Het
Pnpla8 A G 12: 44,311,503 (GRCm38) I745M probably damaging Het
Pom121l12 C A 11: 14,599,681 (GRCm38) T129K probably damaging Het
Ppp1r14a T C 7: 29,293,262 (GRCm38) S130P probably damaging Het
Prss12 A C 3: 123,487,131 (GRCm38) L488F probably benign Het
Psd3 C T 8: 67,908,705 (GRCm38) V559I possibly damaging Het
Rrh T C 3: 129,808,982 (GRCm38) T364A probably benign Het
Shcbp1 A C 8: 4,754,310 (GRCm38) F200C probably damaging Het
Shcbp1 A T 8: 4,741,876 (GRCm38) M479K probably damaging Het
Slc9a3r1 C T 11: 115,163,767 (GRCm38) A81V possibly damaging Het
Slx1b G T 7: 126,692,527 (GRCm38) R122S probably damaging Het
Spidr A G 16: 16,114,825 (GRCm38) probably null Het
St18 G A 1: 6,802,559 (GRCm38) D173N probably benign Het
Stambpl1 T C 19: 34,226,648 (GRCm38) I46T probably damaging Het
Syne1 C T 10: 5,057,886 (GRCm38) D113N probably damaging Het
Tg G A 15: 66,725,272 (GRCm38) V1741I probably benign Het
Thsd7b T A 1: 130,195,275 (GRCm38) W1544R probably benign Het
Tiam2 G A 17: 3,503,008 (GRCm38) R1120H possibly damaging Het
Tinag A T 9: 77,001,649 (GRCm38) C337S probably damaging Het
Tm4sf1 G C 3: 57,293,089 (GRCm38) A64G probably damaging Het
Tmprss6 A G 15: 78,443,817 (GRCm38) Y572H unknown Het
Tnfrsf11a G A 1: 105,827,129 (GRCm38) A309T possibly damaging Het
Txndc11 A G 16: 11,128,561 (GRCm38) Y129H probably damaging Het
Ube3b T C 5: 114,415,681 (GRCm38) F974S possibly damaging Het
Utrn C A 10: 12,728,009 (GRCm38) probably null Het
Vmn1r58 T A 7: 5,411,067 (GRCm38) M55L probably benign Het
Vnn1 T A 10: 23,900,760 (GRCm38) S336R probably benign Het
Wwc2 T C 8: 47,869,794 (GRCm38) Y424C unknown Het
Zfp507 T C 7: 35,776,080 (GRCm38) I903V probably damaging Het
Zfp551 C T 7: 12,416,754 (GRCm38) G243R probably damaging Het
Zfp60 T A 7: 27,749,019 (GRCm38) C371S 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
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
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
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 2019-09-13