Incidental Mutation 'R5377:Akr1a1'
ID 425604
Institutional Source Beutler Lab
Gene Symbol Akr1a1
Ensembl Gene ENSMUSG00000028692
Gene Name aldo-keto reductase family 1, member A1
Synonyms Akr1a4, 2610201A18Rik
MMRRC Submission 042845-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.477) question?
Stock # R5377 (G1)
Quality Score 225
Status Not validated
Chromosome 4
Chromosomal Location 116493707-116508871 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 116497092 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Glutamic Acid at position 156 (V156E)
Ref Sequence ENSEMBL: ENSMUSP00000114861 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030455] [ENSMUST00000128059]
AlphaFold Q9JII6
Predicted Effect probably damaging
Transcript: ENSMUST00000030455
AA Change: V156E

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000030455
Gene: ENSMUSG00000028692
AA Change: V156E

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 damaging
Transcript: ENSMUST00000128059
AA Change: V156E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000114861
Gene: ENSMUSG00000028692
AA Change: V156E

DomainStartEndE-ValueType
Pfam:Aldo_ket_red 16 204 3.7e-43 PFAM
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.5%
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: 62 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A2m G T 6: 121,622,212 (GRCm39) V372F probably benign Het
Adcy10 G A 1: 165,347,464 (GRCm39) C393Y probably damaging Het
Adgrg7 A C 16: 56,550,669 (GRCm39) I681S possibly damaging Het
Akap8l T C 17: 32,540,485 (GRCm39) probably benign Het
Alk T G 17: 72,202,734 (GRCm39) D1167A probably damaging Het
Ankrd11 T C 8: 123,620,453 (GRCm39) probably null Het
Aspm T A 1: 139,385,221 (GRCm39) N288K probably damaging Het
Aspm A G 1: 139,398,133 (GRCm39) probably null Het
Asxl2 G A 12: 3,524,618 (GRCm39) probably null Het
Atp6v0a1 A G 11: 100,946,413 (GRCm39) H802R probably damaging Het
B4galnt1 A G 10: 127,007,691 (GRCm39) T531A possibly damaging Het
Cecr2 A G 6: 120,733,530 (GRCm39) N506D possibly damaging Het
Crebrf T C 17: 26,978,839 (GRCm39) V509A probably damaging Het
Cyp4f40 A T 17: 32,894,590 (GRCm39) I413F probably null Het
Defb12 C A 8: 19,164,342 (GRCm39) probably null Het
Dnah2 T C 11: 69,312,674 (GRCm39) E4297G probably damaging Het
Dpysl5 A T 5: 30,948,857 (GRCm39) N371Y probably damaging Het
Eef1d G T 15: 75,775,038 (GRCm39) T207N probably benign Het
Esrrb C T 12: 86,565,783 (GRCm39) Q416* probably null Het
Exd2 T C 12: 80,536,222 (GRCm39) L284P probably damaging Het
Fat3 T A 9: 16,287,739 (GRCm39) I595F probably benign Het
Gm9920 A G 15: 54,972,371 (GRCm39) probably benign Het
Hephl1 T C 9: 14,981,084 (GRCm39) K783E probably damaging Het
Irs2 A G 8: 11,055,277 (GRCm39) S1052P probably benign Het
Kctd18 T C 1: 58,002,252 (GRCm39) I192V probably benign Het
Lama3 A G 18: 12,586,803 (GRCm39) D722G probably damaging Het
Lepr T C 4: 101,672,216 (GRCm39) V1080A possibly damaging Het
Lpin1 C T 12: 16,613,656 (GRCm39) G504S probably damaging Het
Lrit2 A C 14: 36,791,140 (GRCm39) Q273P possibly damaging Het
Mlkl T A 8: 112,054,569 (GRCm39) E189D probably benign Het
Mttp C T 3: 137,810,790 (GRCm39) R608H probably benign Het
Nav2 T C 7: 49,238,908 (GRCm39) V2011A probably benign Het
Nos2 A T 11: 78,848,317 (GRCm39) I1075F probably benign Het
Npat A G 9: 53,461,336 (GRCm39) probably null Het
Nucks1 T C 1: 131,846,771 (GRCm39) F16L probably damaging Het
Nus1 T C 10: 52,305,309 (GRCm39) S150P possibly damaging Het
Odad1 C T 7: 45,591,506 (GRCm39) R257* probably null Het
Oga A T 19: 45,746,461 (GRCm39) Y779* probably null Het
Or4c123 G T 2: 89,127,506 (GRCm39) T36K probably damaging Het
Or8b35 A T 9: 37,903,908 (GRCm39) Y40F probably benign Het
Pclo A G 5: 14,731,367 (GRCm39) T3290A unknown Het
Pign A T 1: 105,585,537 (GRCm39) F4Y probably benign Het
Rfx4 A G 10: 84,696,406 (GRCm39) N233D possibly damaging Het
Rpgrip1 A T 14: 52,397,652 (GRCm39) M1325L possibly damaging Het
Rufy4 T C 1: 74,186,822 (GRCm39) C537R probably damaging Het
Scaf11 T A 15: 96,315,001 (GRCm39) H1227L possibly damaging Het
Sec31b G T 19: 44,507,076 (GRCm39) P840T probably damaging Het
Slc16a9 T A 10: 70,118,958 (GRCm39) L426I probably damaging Het
Slc22a30 G A 19: 8,321,757 (GRCm39) Q436* probably null Het
Slc34a1 T C 13: 23,996,575 (GRCm39) S27P probably damaging Het
Tacc1 A G 8: 25,672,299 (GRCm39) S310P possibly damaging Het
Tmem245 G A 4: 56,947,084 (GRCm39) R110C probably damaging Het
Trip12 T C 1: 84,735,152 (GRCm39) Y953C probably damaging Het
Trpm7 C A 2: 126,684,775 (GRCm39) probably null Het
Ush2a G A 1: 188,644,320 (GRCm39) V4561I probably benign Het
Vmn1r192 C T 13: 22,371,801 (GRCm39) V140I probably benign Het
Vmn2r66 A T 7: 84,656,026 (GRCm39) I330N probably damaging Het
Vmn2r99 T C 17: 19,599,531 (GRCm39) V405A probably damaging Het
Wdhd1 A C 14: 47,509,678 (GRCm39) V172G probably benign Het
Zfhx3 C T 8: 109,677,817 (GRCm39) R2956C possibly damaging Het
Zfp446 T C 7: 12,716,178 (GRCm39) L283P possibly damaging Het
Zfp82 T C 7: 29,756,591 (GRCm39) K164E probably damaging 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
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
Predicted Primers PCR Primer
(F):5'- CAACTTGCCACCTCCATTAAGG -3'
(R):5'- AGCATTGCAGTTCCTAATTCTTGTC -3'

Sequencing Primer
(F):5'- CCATTAAGGAGATTCCCCACTTG -3'
(R):5'- CTTATGGTGTGGTCCACAGAATAGC -3'
Posted On 2016-08-04