Incidental Mutation 'R9638:Aldh1a1'
ID 725856
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
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.262) question?
Stock # R9638 (G1)
Quality Score 225.009
Status Not validated
Chromosome 19
Chromosomal Location 20470079-20620829 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 20614100 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Lysine at position 423 (N423K)
Ref Sequence ENSEMBL: ENSMUSP00000084918 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000087638]
AlphaFold P24549
Predicted Effect probably benign
Transcript: ENSMUST00000087638
AA Change: N423K

PolyPhen 2 Score 0.331 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000084918
Gene: ENSMUSG00000053279
AA Change: N423K

DomainStartEndE-ValueType
Pfam:Aldedh 29 492 5.1e-185 PFAM
Pfam:LuxC 147 368 2.4e-7 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.0%
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: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca1 T G 4: 53,092,806 (GRCm39) E326A probably damaging Het
Aldh4a1 T A 4: 139,371,427 (GRCm39) I447N probably damaging Het
Atg9b T C 5: 24,596,406 (GRCm39) D170G possibly damaging Het
Bnc2 C T 4: 84,332,492 (GRCm39) V75M probably damaging Het
Bnip3l G A 14: 67,246,214 (GRCm39) P7L possibly damaging Het
Ccdc162 C A 10: 41,437,159 (GRCm39) C1750F probably benign Het
Cdh10 T A 15: 18,964,301 (GRCm39) N154K probably damaging Het
Cdh22 T C 2: 164,988,687 (GRCm39) I223V probably damaging Het
Ces1b T A 8: 93,806,534 (GRCm39) H4L probably benign Het
Cfap46 A T 7: 139,209,763 (GRCm39) F1806I unknown Het
Cwh43 T A 5: 73,565,486 (GRCm39) V17D possibly damaging Het
Ddx3y C T Y: 1,263,599 (GRCm39) G623D probably benign Het
Dtna A T 18: 23,744,122 (GRCm39) I389L probably benign Het
F830016B08Rik A G 18: 60,432,956 (GRCm39) D13G probably benign Het
Fam161b T C 12: 84,403,187 (GRCm39) I148V probably benign Het
Fhip1a T A 3: 85,568,391 (GRCm39) N1043Y probably damaging Het
Fli1 T C 9: 32,388,020 (GRCm39) Y23C probably damaging Het
Gimap6 A G 6: 48,679,424 (GRCm39) V204A probably benign Het
Ighv4-1 T G 12: 113,911,904 (GRCm39) R116S probably damaging Het
Isx T C 8: 75,619,566 (GRCm39) L239P probably damaging Het
Krt1 AAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCAC AAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCAC 15: 101,758,813 (GRCm39) probably benign Het
Krt81 T C 15: 101,358,856 (GRCm39) T299A probably benign Het
Lrrc30 A G 17: 67,939,226 (GRCm39) L118P probably damaging Het
Mapk8ip3 T C 17: 25,118,023 (GRCm39) T1290A probably benign Het
Mef2b ACCCTCACCC ACC 8: 70,619,506 (GRCm39) probably null Het
Meltf G A 16: 31,706,409 (GRCm39) E298K possibly damaging Het
Muc16 T A 9: 18,550,626 (GRCm39) E5222D probably benign Het
Nin T C 12: 70,067,618 (GRCm39) N2003S Het
Or1e23 A G 11: 73,407,875 (GRCm39) I50T probably benign Het
Or2b4 G A 17: 38,116,509 (GRCm39) V158M probably damaging Het
Or51f1d T C 7: 102,701,018 (GRCm39) L171P probably damaging Het
Palld A G 8: 62,002,788 (GRCm39) V826A unknown Het
Paxbp1 C A 16: 90,831,881 (GRCm39) V336L probably benign Het
Paxbp1 T A 16: 90,831,882 (GRCm39) E335D probably benign Het
Por C A 5: 135,754,615 (GRCm39) Q12K unknown Het
Pot1a G A 6: 25,750,106 (GRCm39) Q519* probably null Het
Psd GCC GC 19: 46,301,841 (GRCm39) probably null Het
Ptger4 A G 15: 5,264,693 (GRCm39) F321S probably damaging Het
Ptk7 A G 17: 46,890,519 (GRCm39) Y438H possibly damaging Het
Rimklb A T 6: 122,433,558 (GRCm39) N254K probably benign Het
Rpn2 A T 2: 157,125,566 (GRCm39) T26S probably benign Het
Rtn4rl2 A T 2: 84,710,760 (GRCm39) L168H probably damaging Het
Scel G T 14: 103,779,409 (GRCm39) A127S possibly damaging Het
Sema4a T A 3: 88,357,066 (GRCm39) N302Y probably damaging Het
Supt3 A G 17: 45,234,133 (GRCm39) T50A possibly damaging Het
Upf3a G A 8: 13,848,343 (GRCm39) A380T probably benign Het
Zbtb14 G A 17: 69,695,375 (GRCm39) E358K probably damaging Het
Zfp677 A T 17: 21,618,056 (GRCm39) H371L 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
R0282:Aldh1a1 UTSW 19 20,606,413 (GRCm39) splice site probably benign
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
Predicted Primers PCR Primer
(F):5'- TGAGGGACAATACCTTAGCCAG -3'
(R):5'- CTTGTACATCTTAACGGTGCAC -3'

Sequencing Primer
(F):5'- GGGACAATACCTTAGCCAGTGTAC -3'
(R):5'- TCTAGTAGGTCAGAGACTTTCAAATG -3'
Posted On 2022-09-12