Incidental Mutation 'IGL02481:Akr1b8'
ID295196
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 #IGL02481
Quality Score
Status
Chromosome6
Chromosomal Location34354119-34368463 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 34363794 bp
ZygosityHeterozygous
Amino Acid Change Alanine to Threonine at position 209 (A209T)
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 damaging
Transcript: ENSMUST00000038406
AA Change: A209T

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000040244
Gene: ENSMUSG00000029762
AA Change: A209T

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: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ccdc90b G A 7: 92,574,646 V117I probably benign Het
Cdkl2 A T 5: 92,037,271 I87N probably damaging Het
Cfap57 T A 4: 118,581,105 E863V probably damaging Het
Clca2 G A 3: 145,084,940 S457L possibly damaging Het
Crim1 C T 17: 78,350,798 T702I probably damaging Het
Cysltr1 C A X: 106,578,122 V253L probably damaging Het
Dgcr6 G A 16: 18,065,174 A6T possibly damaging Het
Dis3l T C 9: 64,319,080 probably null Het
Dnm3 A G 1: 162,010,902 S826P probably damaging Het
Dspp A G 5: 104,175,648 N219S possibly damaging Het
Dzip3 T C 16: 48,975,551 probably benign Het
Erc2 T A 14: 27,653,071 L82Q probably damaging Het
Ercc6l T C X: 102,144,669 T745A probably benign Het
Gata4 T C 14: 63,200,461 T414A probably benign Het
Gmps A G 3: 64,014,352 D592G probably damaging Het
Grin3a A G 4: 49,702,868 Y873H probably damaging Het
Gsr T C 8: 33,685,541 probably benign Het
Gtf2h1 T C 7: 46,804,993 L133P probably damaging Het
Ifna5 A C 4: 88,836,090 E189A probably benign Het
Irx5 A G 8: 92,360,679 Y413C probably damaging Het
Kcnk3 A G 5: 30,622,383 E259G probably damaging Het
Kcnt2 T C 1: 140,354,561 probably benign Het
Kif19a A G 11: 114,789,153 E772G probably benign Het
Klhdc7a T A 4: 139,965,810 T609S probably benign Het
Krt78 C A 15: 101,948,418 probably benign Het
Lca5 A T 9: 83,423,117 I212N probably damaging Het
Lgr6 T C 1: 135,001,691 probably benign Het
Madd T G 2: 91,178,036 T174P probably damaging Het
Mcm9 A G 10: 53,625,937 I184T probably damaging Het
Mlycd G A 8: 119,410,334 R431H probably damaging Het
Myh10 G A 11: 68,802,168 A1393T probably benign Het
Myof G T 19: 37,937,913 Y1144* probably null Het
Nbeal2 G A 9: 110,625,995 Q2578* probably null Het
Nlrp4f T A 13: 65,194,734 T366S probably benign Het
Nnat T C 2: 157,561,247 F36S possibly damaging Het
Nsd3 C A 8: 25,691,116 P915T probably damaging Het
Olfr117 A G 17: 37,659,472 L287P probably damaging Het
Olfr1335 C T 4: 118,809,499 V122M probably benign Het
Olfr351 A T 2: 36,859,818 C177S probably damaging Het
Olfr370 A C 8: 83,541,386 M81L possibly damaging Het
Olfr723 G A 14: 49,928,707 T279I probably damaging Het
Pkd1l3 A G 8: 109,614,782 N89S unknown Het
Pkd2 T C 5: 104,486,770 F556L probably damaging Het
Psen2 T A 1: 180,235,061 M239L probably damaging Het
Rad50 A G 11: 53,680,049 I794T probably benign Het
Ralgps1 G A 2: 33,340,729 T14I probably benign Het
Rnpepl1 C T 1: 92,915,907 P250S probably damaging Het
Slc47a2 A G 11: 61,336,241 V167A possibly damaging Het
Tmem161b T A 13: 84,283,993 V41D probably damaging Het
Vmn2r88 A T 14: 51,414,154 E308D probably benign Het
Wdr61 T C 9: 54,728,261 I19V probably damaging Het
Zfhx4 G A 3: 5,411,843 E3148K 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
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