Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02481:Akr1b8'

295196

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

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02481

Quality Score

Status

Chromosome

Chromosomal Location

34354119-34368463 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 34363794 bp

Zygosity

Heterozygous

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

Domain	Start	End	E-Value	Type
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
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
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

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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 On

2015-04-16