Incidental Mutation 'R0471:Aldh1a1'
ID 46794
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 038671-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.262) question?
Stock # R0471 (G1)
Quality Score 225
Status Validated
Chromosome 19
Chromosomal Location 20470079-20620829 bp(+) (GRCm39)
Type of Mutation start codon destroyed
DNA Base Change (assembly) T to A at 20579377 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Lysine at position 1 (M1K)
Ref Sequence ENSEMBL: ENSMUSP00000153011 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000087638] [ENSMUST00000225313] [ENSMUST00000225337]
AlphaFold P24549
Predicted Effect probably null
Transcript: ENSMUST00000087638
AA Change: M1K

PolyPhen 2 Score 0.312 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000084918
Gene: ENSMUSG00000053279
AA Change: M1K

DomainStartEndE-ValueType
Pfam:Aldedh 29 492 5.1e-185 PFAM
Pfam:LuxC 147 368 2.4e-7 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000225313
AA Change: M1K

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
Predicted Effect probably null
Transcript: ENSMUST00000225337
AA Change: M1K

PolyPhen 2 Score 0.152 (Sensitivity: 0.92; Specificity: 0.87)
Meta Mutation Damage Score 0.8636 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.1%
  • 20x: 94.9%
Validation Efficiency 100% (67/67)
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: 66 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acp6 T C 3: 97,075,891 (GRCm39) probably null Het
Adam33 C A 2: 130,896,399 (GRCm39) G437C probably damaging Het
Amotl2 C A 9: 102,597,718 (GRCm39) P126Q probably damaging Het
Ap1g1 T A 8: 110,580,275 (GRCm39) M576K possibly damaging Het
Apob C A 12: 8,040,406 (GRCm39) A581E probably damaging Het
Asb7 A T 7: 66,328,907 (GRCm39) D44E probably damaging Het
Bcl2 G A 1: 106,640,292 (GRCm39) R107C probably damaging Het
C9orf72 G A 4: 35,193,257 (GRCm39) T232I probably benign Het
Ccdc65 A T 15: 98,615,348 (GRCm39) H118L probably benign Het
Cdc25b A G 2: 131,039,204 (GRCm39) E523G probably damaging Het
Cdk11b A G 4: 155,731,999 (GRCm39) probably benign Het
Cilk1 G T 9: 78,062,799 (GRCm39) probably null Het
Clec1b A G 6: 129,378,570 (GRCm39) probably benign Het
Cntrl A G 2: 35,017,392 (GRCm39) T400A probably benign Het
Cpne4 T G 9: 104,899,481 (GRCm39) probably null Het
Cyp2j6 T A 4: 96,419,985 (GRCm39) R249* probably null Het
Dock2 T C 11: 34,579,380 (GRCm39) I678V probably benign Het
Dqx1 C T 6: 83,036,407 (GRCm39) probably benign Het
Dsp A T 13: 38,377,326 (GRCm39) K1704* probably null Het
Eif2b2 T C 12: 85,266,957 (GRCm39) F121S probably benign Het
Ephx4 T C 5: 107,561,379 (GRCm39) V69A possibly damaging Het
Epn2 T C 11: 61,426,134 (GRCm39) Q281R probably damaging Het
Fgf3 A C 7: 144,396,547 (GRCm39) D187A probably damaging Het
Galnt18 C A 7: 111,378,506 (GRCm39) probably benign Het
Gm4871 C T 5: 144,968,402 (GRCm39) probably benign Het
Inpp4b T C 8: 82,768,528 (GRCm39) I679T possibly damaging Het
Itpkb A G 1: 180,245,820 (GRCm39) E779G probably damaging Het
Itsn1 G A 16: 91,696,477 (GRCm39) V27M probably damaging Het
Lrp2 C A 2: 69,355,578 (GRCm39) R422L probably damaging Het
Mmp25 G A 17: 23,858,858 (GRCm39) A231V possibly damaging Het
Mprip T C 11: 59,650,561 (GRCm39) S1422P probably damaging Het
Mro A T 18: 74,009,860 (GRCm39) Q176L probably benign Het
Mrpl12 A G 11: 120,379,229 (GRCm39) E192G probably damaging Het
Myo5b A T 18: 74,862,025 (GRCm39) probably benign Het
Ncam2 G T 16: 80,997,772 (GRCm39) probably benign Het
Nip7 T C 8: 107,783,949 (GRCm39) L63P probably damaging Het
Nsd3 T C 8: 26,138,450 (GRCm39) probably benign Het
Nup98 A T 7: 101,788,004 (GRCm39) V1022D probably benign Het
Or2y1e T A 11: 49,218,744 (GRCm39) C169S probably damaging Het
Or5d43 A G 2: 88,104,559 (GRCm39) V278A possibly damaging Het
Or5h22 A G 16: 58,894,633 (GRCm39) I270T probably benign Het
Or7g28 A T 9: 19,272,177 (GRCm39) L158* probably null Het
P4ha2 T C 11: 54,008,434 (GRCm39) Y214H possibly damaging Het
Pacrg A T 17: 10,795,407 (GRCm39) F184L possibly damaging Het
Parpbp T A 10: 87,929,569 (GRCm39) R426S probably damaging Het
Pcdhb5 T A 18: 37,454,359 (GRCm39) Y246* probably null Het
Pik3cg T A 12: 32,244,770 (GRCm39) T895S probably damaging Het
Prkch T C 12: 73,738,426 (GRCm39) Y178H probably benign Het
Rusc2 G T 4: 43,425,486 (GRCm39) R1197L probably damaging Het
Svep1 T C 4: 58,054,700 (GRCm39) E3296G possibly damaging Het
Svs3a A G 2: 164,131,801 (GRCm39) K123R probably benign Het
Sycp2l A G 13: 41,304,006 (GRCm39) probably null Het
Syne3 T C 12: 104,909,685 (GRCm39) H717R probably benign Het
Tiprl A G 1: 165,050,092 (GRCm39) probably null Het
Trim24 T G 6: 37,892,130 (GRCm39) V151G possibly damaging Het
Trim33 T C 3: 103,234,217 (GRCm39) V56A possibly damaging Het
Trim67 C A 8: 125,521,397 (GRCm39) T253K probably benign Het
Trip12 T C 1: 84,703,928 (GRCm39) E698G probably damaging Het
Tspan14 T C 14: 40,637,353 (GRCm39) D145G probably damaging Het
Ushbp1 G A 8: 71,847,021 (GRCm39) Q204* probably null Het
Vmn1r71 G C 7: 10,482,019 (GRCm39) S223C possibly damaging Het
Vmn2r75 G T 7: 85,814,721 (GRCm39) N257K probably benign Het
Washc4 T C 10: 83,394,598 (GRCm39) probably benign Het
Zc3h7b G A 15: 81,666,169 (GRCm39) D560N probably damaging Het
Zscan21 T C 5: 138,123,402 (GRCm39) V27A probably benign Het
Zzef1 A C 11: 72,813,937 (GRCm39) E2842A 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
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'- GTGTTACAAGTGAGTGGTGCCCTTC -3'
(R):5'- TTCACTGCACTCTGGCCCAAGAAC -3'

Sequencing Primer
(F):5'- AGTGGTGCCCTTCATGCC -3'
(R):5'- GATATGGTTTAGAACTCACCCCTG -3'
Posted On 2013-06-11