Incidental Mutation 'IGL02266:Akr1b8'
ID 286915
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 # IGL02266
Quality Score
Status
Chromosome 6
Chromosomal Location 34331081-34345396 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 34331208 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Valine at position 15 (I15V)
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: 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: 71,307,360 (GRCm39) Q1974* probably null Het
Actl11 G T 9: 107,808,382 (GRCm39) V902L possibly damaging Het
Adam11 T C 11: 102,663,493 (GRCm39) V274A probably damaging Het
Chrm3 T A 13: 9,927,314 (GRCm39) Q574L probably damaging Het
Ciao3 T A 17: 25,999,300 (GRCm39) I238N possibly damaging Het
Crk C A 11: 75,570,415 (GRCm39) R16S probably damaging Het
Ep400 T C 5: 110,843,163 (GRCm39) probably benign Het
Eya1 T C 1: 14,254,725 (GRCm39) N369S possibly damaging Het
Fam220a T C 5: 143,549,326 (GRCm39) V246A possibly damaging Het
Fastkd5 A T 2: 130,457,481 (GRCm39) F370I probably damaging Het
Fhdc1 G A 3: 84,352,042 (GRCm39) A1061V possibly damaging Het
Gpr75 A C 11: 30,841,977 (GRCm39) Q294P probably benign Het
Hspg2 T C 4: 137,237,888 (GRCm39) F204L probably damaging Het
Lrrc8c A C 5: 105,756,114 (GRCm39) I630L probably benign Het
Nlrc4 T C 17: 74,753,162 (GRCm39) D407G possibly damaging Het
Or4f61 G A 2: 111,922,588 (GRCm39) L153F probably benign Het
Or8k22 T A 2: 86,163,323 (GRCm39) I126F probably damaging Het
Pank1 A C 19: 34,791,086 (GRCm39) probably benign Het
Pde3b A G 7: 114,126,201 (GRCm39) T812A probably damaging Het
Phtf2 T G 5: 21,010,797 (GRCm39) K63Q probably damaging Het
Pkhd1l1 A T 15: 44,437,010 (GRCm39) H3456L probably damaging Het
Plcd1 A G 9: 118,903,855 (GRCm39) probably benign Het
Ppip5k2 C T 1: 97,661,697 (GRCm39) V734I possibly damaging Het
Ppp2r2d A G 7: 138,470,166 (GRCm39) N38S probably damaging Het
Rnpepl1 T A 1: 92,844,611 (GRCm39) W368R probably damaging Het
Sidt1 T C 16: 44,075,348 (GRCm39) D670G possibly damaging Het
Slc12a2 T A 18: 58,045,092 (GRCm39) probably benign Het
Tekt5 A T 16: 10,196,906 (GRCm39) I315N probably benign Het
Trappc11 A C 8: 47,958,766 (GRCm39) C42G probably damaging Het
Trerf1 C T 17: 47,626,331 (GRCm39) noncoding transcript Het
Ubqlnl C A 7: 103,798,754 (GRCm39) E248* probably null Het
Ulk4 G T 9: 120,910,766 (GRCm39) T1086K probably benign Het
Unc45a A T 7: 79,978,234 (GRCm39) D680E probably damaging Het
Vmn2r107 T C 17: 20,577,039 (GRCm39) Y346H probably damaging Het
Vmn2r73 A G 7: 85,525,007 (GRCm39) I47T possibly damaging Het
Zbtb9 T C 17: 27,193,129 (GRCm39) V178A probably benign Het
Zc3hav1 A T 6: 38,309,103 (GRCm39) M573K probably benign Het
Zfp608 T C 18: 55,030,653 (GRCm39) T1096A probably benign Het
Other mutations in Akr1b8
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01693:Akr1b8 APN 6 34,340,271 (GRCm39) missense possibly damaging 0.90
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
IGL03337:Akr1b8 APN 6 34,331,209 (GRCm39) missense probably benign 0.25
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 2015-04-16