Incidental Mutation 'IGL02266:Akr1b8'
ID286915
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Akr1b8
Ensembl Gene ENSMUSG00000029762
Gene Namealdo-keto reductase family 1, member B8
SynonymsFgfrp, Fgrp
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL02266
Quality Score
Status
Chromosome6
Chromosomal Location34354119-34368463 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 34354273 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Valine at position 15 (I15V)
Ref Sequence ENSEMBL: ENSMUSP00000040244 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000038406]
PDB Structure
FR-1 PROTEIN/NADPH/ZOPOLRESTAT COMPLEX [X-RAY DIFFRACTION]
Predicted Effect probably benign
Transcript: ENSMUST00000038406
AA Change: I15V

PolyPhen 2 Score 0.218 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000040244
Gene: ENSMUSG00000029762
AA Change: I15V

DomainStartEndE-ValueType
Pfam:Aldo_ket_red 15 294 4.1e-62 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000133370
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 can efficiently reduce aliphatic and aromatic aldehydes, and it is less active on hexoses. It is highly expressed in adrenal gland, small intestine, and colon, and may play an important role in liver carcinogenesis. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca12 G A 1: 71,268,201 Q1974* probably null Het
Actl11 G T 9: 107,931,183 V902L possibly damaging Het
Adam11 T C 11: 102,772,667 V274A probably damaging Het
Chrm3 T A 13: 9,877,278 Q574L probably damaging Het
Crk C A 11: 75,679,589 R16S probably damaging Het
Ep400 T C 5: 110,695,297 probably benign Het
Eya1 T C 1: 14,184,501 N369S possibly damaging Het
Fam220a T C 5: 143,563,571 V246A possibly damaging Het
Fastkd5 A T 2: 130,615,561 F370I probably damaging Het
Fhdc1 G A 3: 84,444,735 A1061V possibly damaging Het
Gpr75 A C 11: 30,891,977 Q294P probably benign Het
Hspg2 T C 4: 137,510,577 F204L probably damaging Het
Lrrc8c A C 5: 105,608,248 I630L probably benign Het
Narfl T A 17: 25,780,326 I238N possibly damaging Het
Nlrc4 T C 17: 74,446,167 D407G possibly damaging Het
Olfr1054 T A 2: 86,332,979 I126F probably damaging Het
Olfr1314 G A 2: 112,092,243 L153F probably benign Het
Pank1 A C 19: 34,813,686 probably benign Het
Pde3b A G 7: 114,526,966 T812A probably damaging Het
Phtf2 T G 5: 20,805,799 K63Q probably damaging Het
Pkhd1l1 A T 15: 44,573,614 H3456L probably damaging Het
Plcd1 A G 9: 119,074,787 probably benign Het
Ppip5k2 C T 1: 97,733,972 V734I possibly damaging Het
Ppp2r2d A G 7: 138,868,437 N38S probably damaging Het
Rnpepl1 T A 1: 92,916,889 W368R probably damaging Het
Sidt1 T C 16: 44,254,985 D670G possibly damaging Het
Slc12a2 T A 18: 57,912,020 probably benign Het
Tekt5 A T 16: 10,379,042 I315N probably benign Het
Trappc11 A C 8: 47,505,731 C42G probably damaging Het
Trerf1 C T 17: 47,315,405 noncoding transcript Het
Ubqlnl C A 7: 104,149,547 E248* probably null Het
Ulk4 G T 9: 121,081,700 T1086K probably benign Het
Unc45a A T 7: 80,328,486 D680E probably damaging Het
Vmn2r107 T C 17: 20,356,777 Y346H probably damaging Het
Vmn2r73 A G 7: 85,875,799 I47T possibly damaging Het
Zbtb9 T C 17: 26,974,155 V178A probably benign Het
Zc3hav1 A T 6: 38,332,168 M573K probably benign Het
Zfp608 T C 18: 54,897,581 T1096A probably benign Het
Other mutations in Akr1b8
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01693:Akr1b8 APN 6 34363336 missense possibly damaging 0.90
IGL02481:Akr1b8 APN 6 34363794 missense probably damaging 1.00
IGL02483:Akr1b8 APN 6 34363794 missense probably damaging 1.00
IGL03260:Akr1b8 APN 6 34363459 splice site probably benign
IGL03337:Akr1b8 APN 6 34354274 missense probably benign 0.25
R0310:Akr1b8 UTSW 6 34365259 missense probably benign 0.04
R0384:Akr1b8 UTSW 6 34364330 splice site probably benign
R4674:Akr1b8 UTSW 6 34356424 critical splice donor site probably null
R4696:Akr1b8 UTSW 6 34363377 missense probably benign 0.01
R7209:Akr1b8 UTSW 6 34356272 missense probably damaging 0.99
Posted On2015-04-16