Incidental Mutation 'IGL02927:Akr1a1'
ID 363913
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 # IGL02927
Quality Score
Status
Chromosome 4
Chromosomal Location 116493707-116508871 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 116495180 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Isoleucine at position 273 (N273I)
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 damaging
Transcript: ENSMUST00000030455
AA Change: N273I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000030455
Gene: ENSMUSG00000028692
AA Change: N273I

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: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700122O11Rik G A 17: 48,347,729 (GRCm39) Q192* probably null Het
Actl7b C A 4: 56,740,609 (GRCm39) D250Y probably damaging Het
Arhgap32 T A 9: 32,172,431 (GRCm39) I1737N possibly damaging Het
Cant1 T C 11: 118,301,888 (GRCm39) D143G probably benign Het
Cast T A 13: 74,885,113 (GRCm39) D295V probably damaging Het
Cdh1 A G 8: 107,395,143 (GRCm39) N851D probably damaging Het
Cntn1 G A 15: 92,189,561 (GRCm39) R628H probably benign Het
Cul4a A G 8: 13,174,861 (GRCm39) D279G possibly damaging Het
Cyp2s1 T C 7: 25,507,577 (GRCm39) K291E probably benign Het
Dhx35 A T 2: 158,662,336 (GRCm39) I205F probably damaging Het
Dpp8 G T 9: 64,967,551 (GRCm39) R518L probably benign Het
Gm9 A G X: 36,474,207 (GRCm39) I34T possibly damaging Het
Hmcn1 A T 1: 150,453,029 (GRCm39) C5429S probably damaging Het
Iqgap2 A C 13: 95,861,184 (GRCm39) L314R possibly damaging Het
Itgav A C 2: 83,625,884 (GRCm39) Y810S probably damaging Het
Kcng4 G T 8: 120,353,061 (GRCm39) P283Q probably benign Het
Lrrn3 T A 12: 41,503,343 (GRCm39) I325F probably damaging Het
Lzts3 A G 2: 130,479,877 (GRCm39) probably benign Het
Marchf7 T C 2: 60,067,262 (GRCm39) I594T probably damaging Het
Matn2 A T 15: 34,355,801 (GRCm39) I269F probably damaging Het
Matn4 A G 2: 164,231,757 (GRCm39) F591S probably damaging Het
Mknk1 C T 4: 115,714,288 (GRCm39) R20C probably damaging Het
Mrgbp T C 2: 180,226,272 (GRCm39) V115A probably damaging Het
Mrgprb8 C T 7: 48,038,373 (GRCm39) Q15* probably null Het
Naa38 T C 11: 69,286,743 (GRCm39) L9P probably damaging Het
Nrn1 C A 13: 36,914,080 (GRCm39) probably null Het
Or13a19 T A 7: 139,902,654 (GRCm39) L14Q probably damaging Het
Or2y3 T A 17: 38,393,114 (GRCm39) M252L probably benign Het
Or9i2 G A 19: 13,816,288 (GRCm39) T83I probably benign Het
Pkd1 A G 17: 24,794,163 (GRCm39) N1950S probably damaging Het
Plagl2 A G 2: 153,074,199 (GRCm39) L234P probably damaging Het
Psmb11 C T 14: 54,863,108 (GRCm39) R109W probably damaging Het
Rcc1 C T 4: 132,065,067 (GRCm39) R139H probably benign Het
Rsbn1 A G 3: 103,869,668 (GRCm39) T710A probably benign Het
Shld2 T C 14: 33,989,658 (GRCm39) Y416C probably damaging Het
Slitrk4 A G X: 63,314,933 (GRCm39) I578T possibly damaging Het
Srgap1 T C 10: 121,691,367 (GRCm39) Y289C probably damaging Het
Stxbp2 A G 8: 3,692,685 (GRCm39) D579G possibly damaging Het
Tg T C 15: 66,549,942 (GRCm39) Y235H probably damaging Het
Thbs3 A G 3: 89,127,514 (GRCm39) N385S probably damaging Het
Trmo A G 4: 46,387,602 (GRCm39) S80P probably damaging Het
Ubc T C 5: 125,463,201 (GRCm39) K709E probably benign Het
Vstm4 C T 14: 32,659,745 (GRCm39) P296S probably damaging Het
Wdr11 G A 7: 129,208,822 (GRCm39) probably null Het
Wdr19 T C 5: 65,409,721 (GRCm39) I1153T possibly damaging Het
Xpo6 T C 7: 125,755,901 (GRCm39) E213G possibly damaging Het
Zxdc A C 6: 90,349,544 (GRCm39) T311P probably damaging Het
Other mutations in Akr1a1
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
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 2015-12-18