Incidental Mutation 'R7458:Akr1a1'
ID 578242
Institutional Source Beutler Lab
Gene Symbol Akr1a1
Ensembl Gene ENSMUSG00000028692
Gene Name aldo-keto reductase family 1, member A1
Synonyms Akr1a4, 2610201A18Rik
MMRRC Submission 045532-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.477) question?
Stock # R7458 (G1)
Quality Score 225.009
Status Validated
Chromosome 4
Chromosomal Location 116493707-116508871 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 116495014 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Lysine at position 286 (M286K)
Ref Sequence ENSEMBL: ENSMUSP00000030455 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030455] [ENSMUST00000128059]
AlphaFold Q9JII6
PDB Structure High resolution structure of mouse aldehyde reductase (AKR1a4) in its apo-form [X-RAY DIFFRACTION]
Predicted Effect possibly damaging
Transcript: ENSMUST00000030455
AA Change: M286K

PolyPhen 2 Score 0.614 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000030455
Gene: ENSMUSG00000028692
AA Change: M286K

DomainStartEndE-ValueType
Pfam:Aldo_ket_red 16 294 1.4e-57 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000128059
SMART Domains Protein: ENSMUSP00000114861
Gene: ENSMUSG00000028692

DomainStartEndE-ValueType
Pfam:Aldo_ket_red 16 204 3.7e-43 PFAM
Meta Mutation Damage Score 0.8754 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 98.9%
Validation Efficiency 100% (48/48)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the aldo/keto reductase superfamily, which consists of more than 40 known enzymes and proteins. This member, also known as aldehyde reductase, is involved in the reduction of biogenic and xenobiotic aldehydes and is present in virtually every tissue. Multiple alternatively spliced transcript variants of this gene exist, all encoding the same protein. [provided by RefSeq, Jan 2011]
PHENOTYPE: Mice homozygous for a gene trap allele exhibit increased osteoporosis in response to pregnancy or castration in the absence of dietary ascorbate. Mice homozygous for a knock-out allele exhibit reduced asorbic acid levels and DL-glyceraldehyde, glucuronolactone and glucuronate reductase activity. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2900026A02Rik C T 5: 113,338,510 (GRCm39) V501M probably benign Het
Abca13 T C 11: 9,240,777 (GRCm39) F880S possibly damaging Het
AI182371 T A 2: 34,976,516 (GRCm39) R206S possibly damaging Het
Aldh8a1 A G 10: 21,271,492 (GRCm39) E406G possibly damaging Het
Ambra1 T A 2: 91,748,029 (GRCm39) V1255D probably benign Het
Apol7e C T 15: 77,598,604 (GRCm39) T23I probably benign Het
Armh4 T C 14: 49,920,196 (GRCm39) Y711C probably damaging Het
Boc T C 16: 44,307,119 (GRCm39) E1034G Het
Bricd5 T C 17: 24,693,476 (GRCm39) I39T probably damaging Het
Ccne1 T C 7: 37,800,096 (GRCm39) T163A probably damaging Het
Cct7 T C 6: 85,436,978 (GRCm39) V72A probably benign Het
Cdh3 A G 8: 107,263,779 (GRCm39) D199G probably damaging Het
Clip1 T G 5: 123,778,609 (GRCm39) E438A probably damaging Het
Col4a4 T C 1: 82,476,669 (GRCm39) I553M unknown Het
Csmd1 A T 8: 16,003,738 (GRCm39) N2605K probably damaging Het
Dnajc10 T A 2: 80,155,094 (GRCm39) probably null Het
Fbn1 T A 2: 125,161,036 (GRCm39) D2168V probably benign Het
G2e3 T A 12: 51,412,290 (GRCm39) N443K possibly damaging Het
Gak T C 5: 108,730,940 (GRCm39) D822G probably benign Het
Gm9493 A G 19: 23,597,277 (GRCm39) I58V probably benign Het
Gpr65 T G 12: 98,242,324 (GRCm39) S326A probably damaging Het
Irs2 T C 8: 11,057,739 (GRCm39) E231G probably damaging Het
Itga1 T C 13: 115,122,802 (GRCm39) D718G probably benign Het
Itih1 T C 14: 30,665,223 (GRCm39) M1V probably null Het
Lgr5 A G 10: 115,293,660 (GRCm39) probably null Het
Lipn A G 19: 34,049,242 (GRCm39) N136S probably benign Het
Lrrc37a G A 11: 103,388,258 (GRCm39) T2389I unknown Het
Myo7b G A 18: 32,121,604 (GRCm39) A767V possibly damaging Het
Necab1 A T 4: 15,111,244 (GRCm39) S61R possibly damaging Het
Or5m8 A G 2: 85,822,994 (GRCm39) T278A probably damaging Het
Phyhip G A 14: 70,699,260 (GRCm39) R21H probably damaging Het
Pls1 G A 9: 95,667,560 (GRCm39) T116I probably damaging Het
Pnn C A 12: 59,119,200 (GRCm39) S594R unknown Het
Psen1 T A 12: 83,761,540 (GRCm39) I114N probably damaging Het
Rhox8 GCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCT GCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCT X: 36,966,991 (GRCm39) probably benign Het
Slc12a7 T A 13: 73,933,188 (GRCm39) V82E probably damaging Het
Slc25a44 A G 3: 88,323,368 (GRCm39) I246T probably benign Het
Slc2a13 T A 15: 91,296,390 (GRCm39) Y308F probably benign Het
Sntb2 C A 8: 107,662,930 (GRCm39) A166E possibly damaging Het
Tas2r135 T A 6: 42,382,881 (GRCm39) V140D possibly damaging Het
Tdrd6 T C 17: 43,935,937 (GRCm39) T1704A probably benign Het
Txndc12 A G 4: 108,718,606 (GRCm39) D159G probably benign Het
Ubash3a T C 17: 31,427,139 (GRCm39) L16P probably benign Het
Usp4 T C 9: 108,245,055 (GRCm39) L331P probably damaging Het
Vmn2r108 T C 17: 20,692,532 (GRCm39) D108G probably benign Het
Vmn2r58 C A 7: 41,487,123 (GRCm39) A591S probably benign Het
Wdpcp T C 11: 21,698,919 (GRCm39) I566T probably damaging Het
Zfp866 T A 8: 70,218,202 (GRCm39) K473* probably null Het
Other mutations in Akr1a1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02927:Akr1a1 APN 4 116,495,180 (GRCm39) missense probably damaging 1.00
IGL03176:Akr1a1 APN 4 116,496,272 (GRCm39) missense probably damaging 1.00
IGL03265:Akr1a1 APN 4 116,495,014 (GRCm39) missense probably benign 0.42
R0480:Akr1a1 UTSW 4 116,497,044 (GRCm39) missense possibly damaging 0.84
R0972:Akr1a1 UTSW 4 116,497,204 (GRCm39) critical splice acceptor site probably null
R1649:Akr1a1 UTSW 4 116,495,217 (GRCm39) missense probably damaging 1.00
R1711:Akr1a1 UTSW 4 116,495,171 (GRCm39) critical splice donor site probably null
R1727:Akr1a1 UTSW 4 116,498,248 (GRCm39) missense probably damaging 1.00
R1822:Akr1a1 UTSW 4 116,493,850 (GRCm39) missense probably benign 0.13
R4653:Akr1a1 UTSW 4 116,495,156 (GRCm39) unclassified probably benign
R5377:Akr1a1 UTSW 4 116,497,092 (GRCm39) missense probably damaging 1.00
R7386:Akr1a1 UTSW 4 116,498,251 (GRCm39) missense probably damaging 0.98
R8253:Akr1a1 UTSW 4 116,493,840 (GRCm39) missense probably damaging 0.98
R8888:Akr1a1 UTSW 4 116,498,260 (GRCm39) missense probably damaging 1.00
R8895:Akr1a1 UTSW 4 116,498,260 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TTCTCCAACCAGCAAGCCTG -3'
(R):5'- AGTGATCTGCATCCCCAAAAG -3'

Sequencing Primer
(F):5'- AAGCCTGCAGCCAGACCTG -3'
(R):5'- TCCCGCATCCTTCAGAACATTCAG -3'
Posted On 2019-10-07