Incidental Mutation 'IGL02987:Akr1e1'
ID 406760
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 # IGL02987
Quality Score
Status
Chromosome 13
Chromosomal Location 4641122-4659163 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 4643591 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 222 (D222G)
Ref Sequence ENSEMBL: ENSMUSP00000106319 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000091848] [ENSMUST00000110691]
AlphaFold Q9DCT1
Predicted Effect possibly damaging
Transcript: ENSMUST00000091848
AA Change: D278G

PolyPhen 2 Score 0.941 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000089459
Gene: ENSMUSG00000045410
AA Change: D278G

DomainStartEndE-ValueType
Pfam:Aldo_ket_red 6 279 1.4e-52 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000110691
AA Change: D222G

PolyPhen 2 Score 0.966 (Sensitivity: 0.77; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000106319
Gene: ENSMUSG00000045410
AA Change: D222G

DomainStartEndE-ValueType
Pfam:Aldo_ket_red 9 223 5.8e-44 PFAM
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: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Apbb1ip T A 2: 22,757,649 (GRCm39) Y422* probably null Het
Asf1a T C 10: 53,473,367 (GRCm39) F28L probably damaging Het
Atp6v1c1 T A 15: 38,690,806 (GRCm39) M319K possibly damaging Het
Bsn A G 9: 108,003,503 (GRCm39) S301P probably benign Het
Cds1 A G 5: 101,960,391 (GRCm39) I281V possibly damaging Het
Col4a4 T C 1: 82,476,646 (GRCm39) probably benign Het
Coq2 G A 5: 100,811,554 (GRCm39) Q103* probably null Het
Dgkh A G 14: 78,827,312 (GRCm39) probably null Het
Dnah9 A G 11: 65,746,098 (GRCm39) I4005T probably damaging Het
Dnah9 C A 11: 65,732,099 (GRCm39) R4269L probably benign Het
F2rl1 T A 13: 95,650,741 (GRCm39) Q47L probably benign Het
Fhod3 T C 18: 25,246,610 (GRCm39) V1272A possibly damaging Het
Gdpd4 T C 7: 97,610,758 (GRCm39) probably benign Het
Gfral A G 9: 76,104,583 (GRCm39) V143A possibly damaging Het
Gltp A C 5: 114,812,243 (GRCm39) F88V probably benign Het
Hectd1 T G 12: 51,791,550 (GRCm39) K2565T probably damaging Het
Jade2 A G 11: 51,721,308 (GRCm39) S207P probably damaging Het
Khdc3 A G 9: 73,009,948 (GRCm39) I53V possibly damaging Het
Lce1a1 T C 3: 92,554,409 (GRCm39) T22A unknown Het
Lgals9 A T 11: 78,858,303 (GRCm39) H196Q possibly damaging Het
Lrrc37a A T 11: 103,391,239 (GRCm39) N1395K probably benign Het
Mast1 C T 8: 85,652,348 (GRCm39) V268I possibly damaging Het
Myh11 T G 16: 14,050,396 (GRCm39) E523A probably damaging Het
Napb T C 2: 148,539,431 (GRCm39) probably null Het
Nlrp4e G A 7: 23,000,858 (GRCm39) R51H probably damaging Het
Ola1 T C 2: 72,987,242 (GRCm39) D130G probably benign Het
Or8c13 A T 9: 38,091,919 (GRCm39) S67T possibly damaging Het
Pard3 G A 8: 128,115,972 (GRCm39) C687Y probably damaging Het
Rassf9 A G 10: 102,381,109 (GRCm39) T164A possibly damaging Het
Sema3a A G 5: 13,615,863 (GRCm39) Y429C probably damaging Het
Slc25a54 T C 3: 109,023,653 (GRCm39) V416A probably benign Het
Slc30a5 T C 13: 100,940,423 (GRCm39) T631A probably damaging Het
Sorl1 A T 9: 41,952,349 (GRCm39) C736S probably damaging Het
Tet3 A T 6: 83,345,074 (GRCm39) S1788T probably damaging Het
Trim42 A G 9: 97,247,868 (GRCm39) V276A 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
IGL02995:Akr1e1 APN 13 4,647,477 (GRCm39) splice site probably benign
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