Incidental Mutation 'IGL03260:Akr1b8'
ID414799
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 #IGL03260
Quality Score
Status
Chromosome6
Chromosomal Location34354119-34368463 bp(+) (GRCm38)
Type of Mutationsplice site
DNA Base Change (assembly) G to T at 34363459 bp
ZygosityHeterozygous
Amino Acid Change
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
SMART Domains Protein: ENSMUSP00000040244
Gene: ENSMUSG00000029762

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: 29 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933406P04Rik A G 10: 20,311,325 probably benign Het
Abca12 A G 1: 71,284,099 L1608P probably damaging Het
Appbp2 A G 11: 85,216,457 V69A probably benign Het
Ces1e T C 8: 93,223,917 N79D probably benign Het
Cldn34b3 A G X: 76,266,873 T16A probably damaging Het
Frmd4b A T 6: 97,396,224 F103Y probably damaging Het
Ifi47 T C 11: 49,096,105 F233S probably damaging Het
Igkv8-30 A T 6: 70,117,355 M24K probably damaging Het
Krt72 C T 15: 101,778,273 A413T probably damaging Het
Lingo4 A G 3: 94,401,943 T63A probably benign Het
Naa35 T G 13: 59,627,885 S125A probably benign Het
Olfr5 A T 7: 6,480,659 C166S probably damaging Het
Olfr809 T C 10: 129,776,652 V261A probably damaging Het
Padi1 T C 4: 140,828,194 H240R probably benign Het
Ppp1r12a A G 10: 108,261,245 T240A probably benign Het
Ppp2ca A G 11: 52,113,148 N44S probably damaging Het
Prg4 T A 1: 150,455,627 probably benign Het
Rab33a A G X: 48,519,668 E23G probably benign Het
Scarb2 G T 5: 92,446,437 A422E probably damaging Het
Scn4b A T 9: 45,147,689 N86I probably damaging Het
Serpina1d G A 12: 103,763,849 T358I probably damaging Het
Slc12a3 T A 8: 94,333,242 I172N probably damaging Het
Slc18a1 T C 8: 69,075,114 E15G probably benign Het
Snx7 A G 3: 117,782,293 probably benign Het
Srpx T A X: 10,055,748 K216* probably null Het
Ugt2a3 G A 5: 87,336,580 P195L probably damaging Het
Unc13c A G 9: 73,931,344 S742P probably benign Het
Vmn2r104 C T 17: 20,042,821 C126Y probably benign Het
Vmn2r63 A T 7: 42,929,192 N92K probably damaging Het
Other mutations in Akr1b8
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01693:Akr1b8 APN 6 34363336 missense possibly damaging 0.90
IGL02266:Akr1b8 APN 6 34354273 missense probably benign 0.22
IGL02481:Akr1b8 APN 6 34363794 missense probably damaging 1.00
IGL02483:Akr1b8 APN 6 34363794 missense probably damaging 1.00
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 On2016-08-02