Incidental Mutation 'IGL02995:Akr1e1'
ID 407119
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Akr1e1
Ensembl Gene ENSMUSG00000045410
Gene Name aldo-keto reductase family 1, member E1
Synonyms 1810061I10Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.099) question?
Stock # IGL02995
Quality Score
Status
Chromosome 13
Chromosomal Location 4641122-4659163 bp(-) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) T to A at 4647477 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000106319 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000091848] [ENSMUST00000110691]
AlphaFold Q9DCT1
Predicted Effect probably benign
Transcript: ENSMUST00000091848
SMART Domains Protein: ENSMUSP00000089459
Gene: ENSMUSG00000045410

DomainStartEndE-ValueType
Pfam:Aldo_ket_red 6 279 1.4e-52 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000110691
SMART Domains Protein: ENSMUSP00000106319
Gene: ENSMUSG00000045410

DomainStartEndE-ValueType
Pfam:Aldo_ket_red 9 223 5.8e-44 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000131982
Coding Region Coverage
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 is a member of the aldo-keto reductase superfamily. Members in this family are characterized by their structure (evolutionarily highly conserved TIM barrel) and function (NAD(P)H-dependent oxido-reduction of carbonyl groups). Transcripts of this gene have been reported in specimens of human testis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2012]
Allele List at MGI
Other mutations in this stock
Total: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A530064D06Rik A G 17: 48,470,456 (GRCm39) V175A probably benign Het
Adam19 G A 11: 46,027,176 (GRCm39) R603Q probably benign Het
Adam25 T C 8: 41,206,760 (GRCm39) S9P probably benign Het
Ano8 C T 8: 71,935,761 (GRCm39) V286I possibly damaging Het
Baz1a C T 12: 54,947,232 (GRCm39) R1139H probably damaging Het
Brca2 T A 5: 150,452,953 (GRCm39) L29H probably damaging Het
Btaf1 T C 19: 36,958,535 (GRCm39) probably benign Het
C8b T A 4: 104,658,525 (GRCm39) probably benign Het
Cep295 A T 9: 15,244,608 (GRCm39) S1283T probably damaging Het
Cyp1a2 T C 9: 57,584,511 (GRCm39) *514W probably null Het
D2hgdh G T 1: 93,757,558 (GRCm39) D158Y probably damaging Het
Dennd1b G A 1: 139,008,980 (GRCm39) V228M probably damaging Het
Fgd6 T A 10: 93,881,342 (GRCm39) L732* probably null Het
Gm21969 G A 4: 139,335,009 (GRCm39) G348S probably benign Het
Gprc6a C T 10: 51,502,895 (GRCm39) V323M probably damaging Het
Gzme T A 14: 56,356,166 (GRCm39) M111L probably damaging Het
Iars2 G T 1: 185,035,498 (GRCm39) Q581K probably benign Het
Klra17 A T 6: 129,845,647 (GRCm39) probably null Het
Klra5 A T 6: 129,883,577 (GRCm39) D93E possibly damaging Het
Lats2 T C 14: 57,937,805 (GRCm39) Y228C probably damaging Het
Lrrn3 T C 12: 41,502,216 (GRCm39) I700M probably damaging Het
Ltb A T 17: 35,414,348 (GRCm39) probably benign Het
Myo18b T C 5: 112,923,279 (GRCm39) probably benign Het
Or10a3 T A 7: 108,480,198 (GRCm39) E205V probably damaging Het
Or11l3 A G 11: 58,516,107 (GRCm39) M255T possibly damaging Het
Or12d13 A T 17: 37,647,600 (GRCm39) H174Q probably damaging Het
Or1e35 G A 11: 73,798,045 (GRCm39) T91M possibly damaging Het
Or1j17 C T 2: 36,578,644 (GRCm39) P210L possibly damaging Het
Pgap1 A C 1: 54,532,509 (GRCm39) I670S probably benign Het
Plxna4 A T 6: 32,493,530 (GRCm39) I362N probably damaging Het
Ppef2 C T 5: 92,383,759 (GRCm39) W450* probably null Het
Prr27 T C 5: 87,990,675 (GRCm39) S96P probably benign Het
Psip1 T A 4: 83,381,954 (GRCm39) probably benign Het
Rgs3 T A 4: 62,544,084 (GRCm39) H285Q possibly damaging Het
Ror1 T C 4: 100,191,722 (GRCm39) probably benign Het
Rps6ka5 C A 12: 100,540,258 (GRCm39) probably benign Het
Sipa1l1 T A 12: 82,404,105 (GRCm39) Y533N probably benign Het
Snx6 T C 12: 54,842,295 (GRCm39) probably benign Het
Tbc1d9 T A 8: 83,995,688 (GRCm39) probably null Het
Tek T C 4: 94,627,877 (GRCm39) probably benign Het
Tor2a T A 2: 32,651,509 (GRCm39) H241Q possibly damaging Het
Wnt5a A T 14: 28,244,871 (GRCm39) I353F probably benign Het
Other mutations in Akr1e1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02667:Akr1e1 APN 13 4,645,666 (GRCm39) missense possibly damaging 0.65
IGL02862:Akr1e1 APN 13 4,659,092 (GRCm39) missense possibly damaging 0.85
IGL02987:Akr1e1 APN 13 4,643,591 (GRCm39) missense probably damaging 0.97
R0894:Akr1e1 UTSW 13 4,645,071 (GRCm39) missense probably damaging 0.99
R1323:Akr1e1 UTSW 13 4,657,547 (GRCm39) missense probably damaging 1.00
R1323:Akr1e1 UTSW 13 4,657,547 (GRCm39) missense probably damaging 1.00
R1795:Akr1e1 UTSW 13 4,645,071 (GRCm39) missense probably damaging 0.99
R2002:Akr1e1 UTSW 13 4,657,564 (GRCm39) intron probably benign
R2872:Akr1e1 UTSW 13 4,652,683 (GRCm39) synonymous silent
R6170:Akr1e1 UTSW 13 4,652,723 (GRCm39) missense possibly damaging 0.67
R6185:Akr1e1 UTSW 13 4,651,252 (GRCm39) missense probably benign 0.09
R6930:Akr1e1 UTSW 13 4,652,714 (GRCm39) missense probably damaging 1.00
R7984:Akr1e1 UTSW 13 4,645,679 (GRCm39) missense probably damaging 0.96
R8447:Akr1e1 UTSW 13 4,648,793 (GRCm39) missense probably damaging 1.00
R9149:Akr1e1 UTSW 13 4,652,678 (GRCm39) critical splice donor site probably null
R9540:Akr1e1 UTSW 13 4,657,393 (GRCm39) missense probably damaging 1.00
RF012:Akr1e1 UTSW 13 4,645,125 (GRCm39) missense probably damaging 0.97
Posted On 2016-08-02