Incidental Mutation 'IGL03337:Akr1b8'
ID 417063
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Akr1b8
Ensembl Gene ENSMUSG00000029762
Gene Name aldo-keto reductase family 1, member B8
Synonyms Fgfrp, Fgrp
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL03337
Quality Score
Status
Chromosome 6
Chromosomal Location 34331081-34345396 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 34331209 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 15 (I15T)
Ref Sequence ENSEMBL: ENSMUSP00000040244 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000038406]
AlphaFold P45377
PDB Structure FR-1 PROTEIN/NADPH/ZOPOLRESTAT COMPLEX [X-RAY DIFFRACTION]
Predicted Effect probably benign
Transcript: ENSMUST00000038406
AA Change: I15T

PolyPhen 2 Score 0.245 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000040244
Gene: ENSMUSG00000029762
AA Change: I15T

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: 22 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca15 A G 7: 119,995,930 (GRCm39) I1356V probably benign Het
Arrdc3 G A 13: 81,038,766 (GRCm39) V23I probably benign Het
Bmp6 G A 13: 38,682,919 (GRCm39) V470I probably damaging Het
Cltc A T 11: 86,594,509 (GRCm39) I1476N possibly damaging Het
Dclk2 A C 3: 86,813,366 (GRCm39) I193M probably damaging Het
Dnah5 A G 15: 28,290,287 (GRCm39) M1226V probably benign Het
Firrm A G 1: 163,818,328 (GRCm39) S38P probably damaging Het
Gm6455 A G 5: 10,917,251 (GRCm39) noncoding transcript Het
Igkv4-62 A T 6: 69,376,946 (GRCm39) W68R probably damaging Het
Lbr C T 1: 181,659,788 (GRCm39) G136R possibly damaging Het
Ldhb C T 6: 142,439,882 (GRCm39) M219I probably benign Het
Lysmd2 A G 9: 75,542,945 (GRCm39) D184G probably damaging Het
Nrxn3 T A 12: 89,221,790 (GRCm39) M150K probably damaging Het
Pdss2 T C 10: 43,221,589 (GRCm39) V167A probably damaging Het
Scn7a A T 2: 66,506,304 (GRCm39) D1528E probably benign Het
Thsd7a C T 6: 12,405,173 (GRCm39) C757Y probably damaging Het
Tmem213 T C 6: 38,086,478 (GRCm39) probably null Het
Trip11 A G 12: 101,851,278 (GRCm39) S929P probably damaging Het
Utp20 T A 10: 88,590,428 (GRCm39) M2349L probably benign Het
Vmn2r58 T A 7: 41,513,810 (GRCm39) I278F possibly damaging Het
Vmn2r61 A G 7: 41,916,509 (GRCm39) N374S possibly damaging Het
Vps8 A G 16: 21,381,918 (GRCm39) T1089A probably benign Het
Other mutations in Akr1b8
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01693:Akr1b8 APN 6 34,340,271 (GRCm39) missense possibly damaging 0.90
IGL02266:Akr1b8 APN 6 34,331,208 (GRCm39) missense probably benign 0.22
IGL02481:Akr1b8 APN 6 34,340,729 (GRCm39) missense probably damaging 1.00
IGL02483:Akr1b8 APN 6 34,340,729 (GRCm39) missense probably damaging 1.00
IGL03260:Akr1b8 APN 6 34,340,394 (GRCm39) splice site probably benign
R0310:Akr1b8 UTSW 6 34,342,194 (GRCm39) missense probably benign 0.04
R0384:Akr1b8 UTSW 6 34,341,265 (GRCm39) splice site probably benign
R4674:Akr1b8 UTSW 6 34,333,359 (GRCm39) critical splice donor site probably null
R4696:Akr1b8 UTSW 6 34,340,312 (GRCm39) missense probably benign 0.01
R7209:Akr1b8 UTSW 6 34,333,207 (GRCm39) missense probably damaging 0.99
R9797:Akr1b8 UTSW 6 34,333,278 (GRCm39) missense possibly damaging 0.95
R9799:Akr1b8 UTSW 6 34,333,278 (GRCm39) missense possibly damaging 0.95
Posted On 2016-08-02