Incidental Mutation 'R2281:Aldh1a1'
ID 243169
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 040280-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.262) question?
Stock # R2281 (G1)
Quality Score 225
Status Not validated
Chromosome 19
Chromosomal Location 20470079-20620829 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 20597455 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Methionine at position 145 (I145M)
Ref Sequence ENSEMBL: ENSMUSP00000084918 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000087638] [ENSMUST00000225313] [ENSMUST00000225337]
AlphaFold P24549
Predicted Effect possibly damaging
Transcript: ENSMUST00000087638
AA Change: I145M

PolyPhen 2 Score 0.885 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000084918
Gene: ENSMUSG00000053279
AA Change: I145M

DomainStartEndE-ValueType
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
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 97.0%
  • 20x: 94.0%
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: 73 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930503B20Rik A G 3: 146,352,179 (GRCm39) L228S probably damaging Het
Abca13 A T 11: 9,278,136 (GRCm39) K3105N probably damaging Het
Abca3 T A 17: 24,595,700 (GRCm39) L351Q possibly damaging Het
Acadm A G 3: 153,638,680 (GRCm39) I231T possibly damaging Het
Adamts4 A T 1: 171,083,798 (GRCm39) Q456L probably damaging Het
Adgra3 C T 5: 50,159,222 (GRCm39) V343I probably benign Het
Ajuba C A 14: 54,814,645 (GRCm39) G26V probably damaging Het
Ankrd42 G A 7: 92,274,981 (GRCm39) Q110* probably null Het
Ano3 T A 2: 110,513,104 (GRCm39) E630D probably benign Het
Ap3d1 T C 10: 80,549,832 (GRCm39) D771G probably damaging Het
Arhgap30 A G 1: 171,216,896 (GRCm39) D21G probably damaging Het
Atg13 T C 2: 91,509,770 (GRCm39) N374S probably benign Het
Ccdc168 T A 1: 44,095,620 (GRCm39) H1826L possibly damaging Het
Ccser1 A T 6: 61,547,799 (GRCm39) M49L probably damaging Het
Cdh5 A G 8: 104,852,365 (GRCm39) E160G probably damaging Het
Cpd T C 11: 76,688,627 (GRCm39) K882E probably benign Het
Crtac1 G A 19: 42,272,006 (GRCm39) L646F unknown Het
Cyp27b1 T G 10: 126,884,163 (GRCm39) V5G probably damaging Het
Dcaf11 G T 14: 55,806,828 (GRCm39) *550Y probably null Het
Dhx58 A G 11: 100,588,980 (GRCm39) probably null Het
Dlg2 T A 7: 92,087,249 (GRCm39) I881N probably damaging Het
Ece1 C T 4: 137,673,673 (GRCm39) T407M possibly damaging Het
Ecsit C T 9: 21,987,836 (GRCm39) V68I possibly damaging Het
Egln1 T C 8: 125,675,153 (GRCm39) D214G probably benign Het
Espn T C 4: 152,220,002 (GRCm39) T47A possibly damaging Het
F5 A G 1: 164,023,289 (GRCm39) I1616V possibly damaging Het
Fam43b G C 4: 138,122,409 (GRCm39) R304G probably benign Het
Flnc G A 6: 29,438,665 (GRCm39) W186* probably null Het
Fryl T C 5: 73,198,707 (GRCm39) D2640G possibly damaging Het
Gabrg2 T C 11: 41,867,463 (GRCm39) K52R possibly damaging Het
Ganab T C 19: 8,886,832 (GRCm39) V306A probably damaging Het
Glod4 A T 11: 76,128,635 (GRCm39) I70N possibly damaging Het
Gsn T A 2: 35,173,930 (GRCm39) V2E probably benign Het
H1f2 A G 13: 23,922,907 (GRCm39) K26E probably benign Het
Hrg C T 16: 22,780,059 (GRCm39) probably benign Het
Kctd19 T C 8: 106,113,898 (GRCm39) T592A probably benign Het
Kdm3b A G 18: 34,941,472 (GRCm39) D521G probably damaging Het
Lrba A G 3: 86,683,410 (GRCm39) H2744R possibly damaging Het
Lsr C T 7: 30,657,770 (GRCm39) A397T probably damaging Het
Methig1 A T 15: 100,251,241 (GRCm39) M51L possibly damaging Het
Mga A G 2: 119,734,204 (GRCm39) I351V probably benign Het
Mlf1 G A 3: 67,307,084 (GRCm39) V250I possibly damaging Het
Mreg A T 1: 72,231,223 (GRCm39) N78K probably damaging Het
Mtor A G 4: 148,574,012 (GRCm39) D1294G probably benign Het
Nfkb1 T C 3: 135,307,282 (GRCm39) I548V probably damaging Het
Nlrp3 T C 11: 59,439,962 (GRCm39) F513S possibly damaging Het
Nphp4 A G 4: 152,641,500 (GRCm39) K1094E possibly damaging Het
Nr3c2 C A 8: 77,636,536 (GRCm39) H546N probably damaging Het
Nr4a2 T A 2: 57,002,211 (GRCm39) M18L probably benign Het
Or2y1f A C 11: 49,184,459 (GRCm39) T104P probably benign Het
Or4c109 G A 2: 88,817,814 (GRCm39) T244I probably benign Het
Pclo A G 5: 14,590,346 (GRCm39) N882S unknown Het
Pde6a T C 18: 61,395,505 (GRCm39) Y583H probably damaging Het
Pip5k1b T A 19: 24,356,311 (GRCm39) Y209F probably damaging Het
Plch2 A T 4: 155,068,766 (GRCm39) S1182T probably damaging Het
Ptger2 G T 14: 45,227,107 (GRCm39) R229L probably damaging Het
Ptpru C A 4: 131,535,810 (GRCm39) G389V probably damaging Het
Ric8a A G 7: 140,441,851 (GRCm39) N249S probably benign Het
Slc26a5 A G 5: 22,036,508 (GRCm39) I266T possibly damaging Het
Smyd1 T C 6: 71,215,660 (GRCm39) N100D probably damaging Het
Spmap2l T C 5: 77,207,214 (GRCm39) I324T probably damaging Het
Stag3 T C 5: 138,296,546 (GRCm39) F468S probably damaging Het
Stk31 C T 6: 49,394,184 (GRCm39) T182I probably damaging Het
Svep1 G T 4: 58,082,677 (GRCm39) N1982K possibly damaging Het
Tinagl1 A G 4: 130,060,786 (GRCm39) Y344H probably damaging Het
Tmem216 T A 19: 10,529,237 (GRCm39) T104S probably damaging Het
Tmem231 T C 8: 112,645,563 (GRCm39) D112G probably damaging Het
Ube4b A G 4: 149,429,029 (GRCm39) I870T probably damaging Het
Vwa8 T A 14: 79,302,436 (GRCm39) L1035Q possibly damaging Het
Wdr35 A G 12: 9,028,628 (GRCm39) Q82R probably benign Het
Wnk1 A T 6: 119,940,601 (GRCm39) probably null Het
Zc3h7a T C 16: 10,976,458 (GRCm39) probably benign Het
Zfp532 T C 18: 65,757,783 (GRCm39) V572A 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
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'- TGTTCTGGTTGCAATTACTGAC -3'
(R):5'- TGACCACTTAGACACCTCACTTG -3'

Sequencing Primer
(F):5'- CTGGTTGCAATTACTGACTGTGTTC -3'
(R):5'- GACACCTCACTTGAATTTTTAACTG -3'
Posted On 2014-10-16