Incidental Mutation 'IGL03337:Akr1b8'
ID417063
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 #IGL03337
Quality Score
Status
Chromosome6
Chromosomal Location34354119-34368463 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 34354274 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Threonine at position 15 (I15T)
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: 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: 120,396,707 I1356V probably benign Het
Arrdc3 G A 13: 80,890,647 V23I probably benign Het
BC055324 A G 1: 163,990,759 S38P probably damaging Het
Bmp6 G A 13: 38,498,943 V470I probably damaging Het
Cltc A T 11: 86,703,683 I1476N possibly damaging Het
Dclk2 A C 3: 86,906,059 I193M probably damaging Het
Dnah5 A G 15: 28,290,141 M1226V probably benign Het
Gm6455 A G 5: 10,867,284 noncoding transcript Het
Igkv4-62 A T 6: 69,399,962 W68R probably damaging Het
Lbr C T 1: 181,832,223 G136R possibly damaging Het
Ldhb C T 6: 142,494,156 M219I probably benign Het
Lysmd2 A G 9: 75,635,663 D184G probably damaging Het
Nrxn3 T A 12: 89,255,020 M150K probably damaging Het
Pdss2 T C 10: 43,345,593 V167A probably damaging Het
Scn7a A T 2: 66,675,960 D1528E probably benign Het
Thsd7a C T 6: 12,405,174 C757Y probably damaging Het
Tmem213 T C 6: 38,109,543 probably null Het
Trip11 A G 12: 101,885,019 S929P probably damaging Het
Utp20 T A 10: 88,754,566 M2349L probably benign Het
Vmn2r58 T A 7: 41,864,386 I278F possibly damaging Het
Vmn2r61 A G 7: 42,267,085 N374S possibly damaging Het
Vps8 A G 16: 21,563,168 T1089A probably benign 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
IGL03260:Akr1b8 APN 6 34363459 splice site probably benign
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