Incidental Mutation 'R7920:Aldh1a1'
ID 648323
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 045967-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.262) question?
Stock # R7920 (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 20595301 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tryptophan to Arginine at position 77 (W77R)
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: W77R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000084918
Gene: ENSMUSG00000053279
AA Change: W77R

DomainStartEndE-ValueType
Pfam:Aldedh 29 492 5.1e-185 PFAM
Pfam:LuxC 147 368 2.4e-7 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000225313
AA Change: W77R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably damaging
Transcript: ENSMUST00000225337
AA Change: W77R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.2%
Validation Efficiency 100% (63/63)
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: 67 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700024B05Rik T C 14: 41,818,130 (GRCm39) S9P probably damaging Het
AI661453 A T 17: 47,779,331 (GRCm39) Q1019L unknown Het
Cc2d2a T C 5: 43,896,651 (GRCm39) I1516T probably benign Het
Ccdc149 T A 5: 52,562,436 (GRCm39) I197F probably damaging Het
Cfap119 A G 7: 127,187,125 (GRCm39) M46T probably benign Het
Cfb A G 17: 35,079,867 (GRCm39) V176A probably benign Het
Chordc1 A G 9: 18,213,397 (GRCm39) K83E probably benign Het
Cic G A 7: 24,971,384 (GRCm39) V372M probably benign Het
Coq2 T A 5: 100,811,741 (GRCm39) probably benign Het
Cradd A G 10: 95,158,573 (GRCm39) L58P probably damaging Het
Crim1 A T 17: 78,610,493 (GRCm39) D316V probably damaging Het
Cyb5rl C A 4: 106,928,205 (GRCm39) L114I possibly damaging Het
Cyp2c69 T G 19: 39,866,247 (GRCm39) probably null Het
Ddhd1 A G 14: 45,894,927 (GRCm39) F181S probably damaging Het
Dennd1b G A 1: 138,990,611 (GRCm39) E192K probably damaging Het
Dmrt1 T C 19: 25,483,383 (GRCm39) S56P possibly damaging Het
Dnah12 A G 14: 26,578,499 (GRCm39) E3086G possibly damaging Het
Dnah5 A T 15: 28,453,368 (GRCm39) M4380L probably benign Het
Dph7 A T 2: 24,861,624 (GRCm39) M346L probably benign Het
Eef1ece2 A G 16: 20,456,442 (GRCm39) E428G possibly damaging Het
Egf C T 3: 129,529,489 (GRCm39) R307H probably benign Het
Fam50b G A 13: 34,931,084 (GRCm39) E187K possibly damaging Het
Fcna T C 2: 25,516,298 (GRCm39) K112E probably benign Het
Fkbp5 A T 17: 28,648,213 (GRCm39) N125K possibly damaging Het
Foxo3 C T 10: 42,073,765 (GRCm39) V251I possibly damaging Het
Fryl T A 5: 73,259,150 (GRCm39) probably null Het
Fsip2 A G 2: 82,781,365 (GRCm39) E253G possibly damaging Het
Gprc6a T A 10: 51,491,026 (GRCm39) T908S probably benign Het
Grin2c A T 11: 115,144,970 (GRCm39) F560L probably benign Het
Hao1 T A 2: 134,390,172 (GRCm39) N56Y probably damaging Het
Haus3 T C 5: 34,325,046 (GRCm39) I204M probably benign Het
Htr3b C A 9: 48,848,456 (GRCm39) C263F probably damaging Het
Ica1 A T 6: 8,742,274 (GRCm39) C120S probably benign Het
Inpp4a T A 1: 37,406,886 (GRCm39) S210T probably benign Het
Inpp5d T G 1: 87,633,671 (GRCm39) I699S probably damaging Het
Kcng1 A G 2: 168,104,904 (GRCm39) V314A probably benign Het
Lcn11 G A 2: 25,669,343 (GRCm39) V167M possibly damaging Het
Lingo3 C A 10: 80,670,382 (GRCm39) R516L probably benign Het
Lrmda T C 14: 22,646,546 (GRCm39) V151A probably damaging Het
Ly6g5b A C 17: 35,333,578 (GRCm39) I133R probably damaging Het
Mcidas G A 13: 113,135,521 (GRCm39) G315S probably damaging Het
Miip C T 4: 147,947,375 (GRCm39) G236S probably benign Het
Mroh7 T C 4: 106,564,773 (GRCm39) T562A probably benign Het
Nlrc4 A G 17: 74,734,114 (GRCm39) M933T probably benign Het
Or13a25 A T 7: 140,247,814 (GRCm39) S198C possibly damaging Het
Pkhd1 A T 1: 20,345,759 (GRCm39) D2756E probably damaging Het
Plekhm2 T C 4: 141,359,432 (GRCm39) D445G probably damaging Het
Ppp1r12c C T 7: 4,486,354 (GRCm39) G605D probably benign Het
Pygb T A 2: 150,628,922 (GRCm39) N45K possibly damaging Het
Scn4b A G 9: 45,058,069 (GRCm39) T54A probably damaging Het
Scrt1 T A 15: 76,403,417 (GRCm39) H191L unknown Het
Sdc3 A G 4: 130,546,507 (GRCm39) M289V probably benign Het
Shb C T 4: 45,489,054 (GRCm39) probably null Het
Slc1a5 A G 7: 16,527,795 (GRCm39) T364A probably damaging Het
Slc25a27 A G 17: 43,960,564 (GRCm39) V218A probably benign Het
Slc39a4 C T 15: 76,498,285 (GRCm39) G384D probably damaging Het
Sptbn2 C G 19: 4,799,040 (GRCm39) R2037G probably benign Het
Styxl2 T A 1: 165,927,465 (GRCm39) N716Y possibly damaging Het
Tmem67 A T 4: 12,089,284 (GRCm39) probably null Het
Tonsl C T 15: 76,518,787 (GRCm39) R544H probably damaging Het
Trex1 A G 9: 108,887,157 (GRCm39) V278A unknown Het
Ttn A T 2: 76,625,501 (GRCm39) D15107E probably damaging Het
Tubgcp5 A G 7: 55,466,310 (GRCm39) T621A probably benign Het
Zfhx4 T C 3: 5,465,515 (GRCm39) V1916A possibly damaging Het
Zfp260 A T 7: 29,805,017 (GRCm39) K306* probably null Het
Zkscan7 A T 9: 122,724,974 (GRCm39) T648S probably benign Het
Zscan4c T A 7: 10,743,699 (GRCm39) F433I possibly 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
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'- GGATTTCGGGCTAATGGACC -3'
(R):5'- ACTCTGCAAGTTCTAGAGAAAACG -3'

Sequencing Primer
(F):5'- CGGGCTAATGGACCTTCTG -3'
(R):5'- GACCGTGTGTTCTCTTAACCAAACTG -3'
Posted On 2020-09-15