Incidental Mutation 'IGL02667:Akr1e1'
ID302765
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Akr1e1
Ensembl Gene ENSMUSG00000045410
Gene Namealdo-keto reductase family 1, member E1
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.087) question?
Stock #IGL02667
Quality Score
Status
Chromosome13
Chromosomal Location4590750-4609174 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 4595667 bp
ZygosityHeterozygous
Amino Acid Change Proline to Leucine at position 174 (P174L)
Ref Sequence ENSEMBL: ENSMUSP00000106319 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000091848] [ENSMUST00000110691]
Predicted Effect probably benign
Transcript: ENSMUST00000091848
AA Change: P230L

PolyPhen 2 Score 0.292 (Sensitivity: 0.91; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000089459
Gene: ENSMUSG00000045410
AA Change: P230L

DomainStartEndE-ValueType
Pfam:Aldo_ket_red 6 279 1.4e-52 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000110691
AA Change: P174L

PolyPhen 2 Score 0.647 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000106319
Gene: ENSMUSG00000045410
AA Change: P174L

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: 26 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
6530409C15Rik A G 6: 28,217,671 noncoding transcript Het
Arf5 C A 6: 28,425,199 N95K probably damaging Het
Atl3 T C 19: 7,509,416 F39L possibly damaging Het
Atp2a3 C A 11: 72,975,339 H262N probably benign Het
Cyp2a12 T C 7: 27,031,158 S183P probably damaging Het
Dicer1 T A 12: 104,714,906 R449S probably damaging Het
Dlec1 T C 9: 119,127,466 I736T probably benign Het
Eny2 T A 15: 44,429,588 M12K possibly damaging Het
Fbxl21 C T 13: 56,537,129 R349C probably benign Het
Gstm2 A G 3: 107,986,108 L13P probably damaging Het
Gucy2g G A 19: 55,206,177 T936M possibly damaging Het
Mbp G T 18: 82,554,615 K12N probably damaging Het
Mon1b G T 8: 113,638,823 R261L possibly damaging Het
Myo18a A G 11: 77,857,852 probably benign Het
Nr2f2 T C 7: 70,357,985 S117G probably damaging Het
Pi4k2b T C 5: 52,750,605 probably benign Het
Pi4ka A G 16: 17,295,461 F1504L possibly damaging Het
Ppm1d T C 11: 85,332,285 W239R probably damaging Het
Setd1b T A 5: 123,157,497 S1043T unknown Het
Tgfbrap1 T C 1: 43,067,620 I298V probably benign Het
Tmem190 T A 7: 4,783,158 D20E probably benign Het
Tph2 A T 10: 115,080,045 C408S probably benign Het
Trmt44 A C 5: 35,571,052 Y295D probably damaging Het
Trpm2 C T 10: 77,935,942 R621H probably damaging Het
Ubn1 A G 16: 5,062,599 E134G probably damaging Het
Zcchc11 T C 4: 108,558,708 probably benign Het
Other mutations in Akr1e1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02862:Akr1e1 APN 13 4609093 missense possibly damaging 0.85
IGL02987:Akr1e1 APN 13 4593592 missense probably damaging 0.97
IGL02995:Akr1e1 APN 13 4597478 splice site probably benign
R0894:Akr1e1 UTSW 13 4595072 missense probably damaging 0.99
R1323:Akr1e1 UTSW 13 4607548 missense probably damaging 1.00
R1323:Akr1e1 UTSW 13 4607548 missense probably damaging 1.00
R1795:Akr1e1 UTSW 13 4595072 missense probably damaging 0.99
R2002:Akr1e1 UTSW 13 4607565 intron probably benign
R2872:Akr1e1 UTSW 13 4602684 synonymous silent
R6170:Akr1e1 UTSW 13 4602724 missense possibly damaging 0.67
R6185:Akr1e1 UTSW 13 4601253 missense probably benign 0.09
R6930:Akr1e1 UTSW 13 4602715 missense probably damaging 1.00
Posted On2015-04-16