Incidental Mutation 'IGL03265:Akr1a1'
ID 415040
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Akr1a1
Ensembl Gene ENSMUSG00000028692
Gene Name aldo-keto reductase family 1, member A1
Synonyms Akr1a4, 2610201A18Rik
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.471) question?
Stock # IGL03265
Quality Score
Status
Chromosome 4
Chromosomal Location 116493707-116508871 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 116495014 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Threonine at position 286 (M286T)
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 probably benign
Transcript: ENSMUST00000030455
AA Change: M286T

PolyPhen 2 Score 0.424 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000030455
Gene: ENSMUSG00000028692
AA Change: M286T

DomainStartEndE-ValueType
Pfam:Aldo_ket_red 16 294 1.4e-57 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000126146
Predicted Effect noncoding transcript
Transcript: ENSMUST00000128010
Predicted Effect probably benign
Transcript: ENSMUST00000128059
SMART Domains Protein: ENSMUSP00000114861
Gene: ENSMUSG00000028692

DomainStartEndE-ValueType
Pfam:Aldo_ket_red 16 204 3.7e-43 PFAM
Coding Region Coverage
Validation Efficiency
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: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca8a C A 11: 109,943,929 (GRCm39) M1113I probably benign Het
Acvr1b A G 15: 101,100,959 (GRCm39) R374G probably damaging Het
Anapc1 T C 2: 128,469,117 (GRCm39) S1575G probably damaging Het
Apba2 A G 7: 64,345,071 (GRCm39) D87G probably damaging Het
Arhgap21 A G 2: 20,854,439 (GRCm39) F1641S probably benign Het
Atad2b T A 12: 5,074,628 (GRCm39) H1062Q probably benign Het
Bivm A G 1: 44,181,005 (GRCm39) R396G probably damaging Het
Bltp1 T A 3: 37,102,140 (GRCm39) D4777E probably benign Het
Bmi1 T A 2: 18,686,672 (GRCm39) M17K possibly damaging Het
Bptf T C 11: 106,945,454 (GRCm39) N2480S probably benign Het
Cacna2d3 T C 14: 28,674,243 (GRCm39) E944G probably damaging Het
Ces2a C T 8: 105,464,075 (GRCm39) H236Y possibly damaging Het
Dnah7a T C 1: 53,568,007 (GRCm39) D1863G probably benign Het
Dnajc17 C A 2: 119,016,199 (GRCm39) E91D probably benign Het
Dus2 C A 8: 106,760,423 (GRCm39) probably benign Het
Epha6 T C 16: 59,880,594 (GRCm39) probably benign Het
Erap1 A T 13: 74,812,246 (GRCm39) T354S probably damaging Het
Fbxo11 T C 17: 88,300,259 (GRCm39) H851R probably damaging Het
Gm20532 G A 2: 26,522,696 (GRCm39) C90Y unknown Het
Gpr21 T C 2: 37,408,086 (GRCm39) Y211H probably damaging Het
Hectd4 A G 5: 121,398,002 (GRCm39) probably benign Het
Hephl1 G A 9: 14,972,255 (GRCm39) T895I probably benign Het
Hey1 T C 3: 8,729,974 (GRCm39) Y161C probably benign Het
Kdr A G 5: 76,121,433 (GRCm39) Y526H probably damaging Het
Lpp A G 16: 24,580,737 (GRCm39) Y151C probably damaging Het
Macc1 A G 12: 119,410,711 (GRCm39) N493S probably benign Het
Or2t45 T C 11: 58,669,697 (GRCm39) V248A probably damaging Het
Or52s6 C A 7: 103,091,655 (GRCm39) R225L probably benign Het
Or5m10b T A 2: 85,699,494 (GRCm39) M186K possibly damaging Het
Or5t16 T A 2: 86,819,424 (GRCm39) Y32F probably damaging Het
Or6c1b A T 10: 129,272,794 (GRCm39) T38S possibly damaging Het
Pcdhb21 A G 18: 37,648,206 (GRCm39) D445G probably damaging Het
Prkra T C 2: 76,470,614 (GRCm39) N123D probably benign Het
Slc25a33 A C 4: 149,846,893 (GRCm39) L56R probably damaging Het
Usp36 A G 11: 118,155,635 (GRCm39) V714A possibly damaging Het
Vmn1r174 T A 7: 23,453,898 (GRCm39) L188* probably null Het
Vmn2r12 A G 5: 109,239,936 (GRCm39) V209A probably benign Het
Zfp809 A G 9: 22,154,339 (GRCm39) Y352C probably benign 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
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
R7458:Akr1a1 UTSW 4 116,495,014 (GRCm39) missense possibly damaging 0.61
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
Posted On 2016-08-02