Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02483:Akr1b8'

295308

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 #

IGL02483

Quality Score

Status

Chromosome

Chromosomal Location

34331081-34345396 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 34340729 bp (GRCm39)

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]

AlphaFold

P45377

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: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgre5	T	G	8: 84,451,882 (GRCm39)	I512L	probably damaging	Het
Ahnak	C	A	19: 8,980,672 (GRCm39)	T652N	probably benign	Het
Arnt2	T	A	7: 83,900,605 (GRCm39)	H659L	probably damaging	Het
Cad	A	G	5: 31,218,170 (GRCm39)		probably null	Het
Car6	T	A	4: 150,280,586 (GRCm39)	N86I	probably damaging	Het
Cfap57	T	A	4: 118,438,302 (GRCm39)	E863V	probably damaging	Het
Cyp2c39	T	A	19: 39,525,231 (GRCm39)	I178N	probably damaging	Het
Cysltr1	C	A	X: 105,621,728 (GRCm39)	V253L	probably damaging	Het
Dgcr6	G	A	16: 17,883,038 (GRCm39)	A6T	possibly damaging	Het
Dis3l	T	C	9: 64,226,362 (GRCm39)		probably null	Het
Erc2	T	A	14: 27,375,028 (GRCm39)	L82Q	probably damaging	Het
Ercc6l	T	C	X: 101,188,275 (GRCm39)	T745A	probably benign	Het
Fmo4	A	G	1: 162,635,990 (GRCm39)	V54A	possibly damaging	Het
Foxd3	C	T	4: 99,545,265 (GRCm39)	S135F	probably damaging	Het
Fut7	T	A	2: 25,313,888 (GRCm39)	F21Y	possibly damaging	Het
Gata4	T	C	14: 63,437,910 (GRCm39)	T414A	probably benign	Het
Gm4950	A	T	18: 51,998,406 (GRCm39)	M183K	probably damaging	Het
Gmps	A	G	3: 63,921,773 (GRCm39)	D592G	probably damaging	Het
Hpd	A	T	5: 123,320,641 (GRCm39)		probably null	Het
Imp4	T	C	1: 34,483,356 (GRCm39)		probably null	Het
Itgbl1	A	T	14: 124,065,155 (GRCm39)		probably benign	Het
Kcnt2	T	C	1: 140,282,299 (GRCm39)		probably benign	Het
Kdr	C	T	5: 76,096,954 (GRCm39)		probably null	Het
Lca5	A	T	9: 83,305,170 (GRCm39)	I212N	probably damaging	Het
Lgr6	T	C	1: 134,929,429 (GRCm39)		probably benign	Het
Lrrc28	T	C	7: 67,267,731 (GRCm39)		probably benign	Het
Madd	T	G	2: 91,008,381 (GRCm39)	T174P	probably damaging	Het
Map3k8	A	G	18: 4,349,318 (GRCm39)		probably benign	Het
Mcm3	A	G	1: 20,873,796 (GRCm39)	S775P	possibly damaging	Het
Myh10	G	A	11: 68,692,994 (GRCm39)	A1393T	probably benign	Het
Nbas	C	T	12: 13,374,295 (GRCm39)	A541V	probably damaging	Het
Nbeal2	G	A	9: 110,455,063 (GRCm39)	Q2578*	probably null	Het
Nlrp4f	T	A	13: 65,342,548 (GRCm39)	T366S	probably benign	Het
Oma1	C	T	4: 103,182,309 (GRCm39)	R271*	probably null	Het
Or10ak12	C	T	4: 118,666,696 (GRCm39)	V122M	probably benign	Het
Or2g25	A	G	17: 37,970,363 (GRCm39)	L287P	probably damaging	Het
Or4c111	G	T	2: 88,843,547 (GRCm39)	T287N	probably damaging	Het
Plekhh2	T	C	17: 84,903,688 (GRCm39)	F1058S	possibly damaging	Het
Psen2	T	A	1: 180,062,626 (GRCm39)	M239L	probably damaging	Het
Psme3ip1	A	G	8: 95,315,394 (GRCm39)		probably benign	Het
Rad50	A	G	11: 53,570,876 (GRCm39)	I794T	probably benign	Het
Rgs12	A	G	5: 35,187,861 (GRCm39)	E506G	probably damaging	Het
Rnpepl1	C	T	1: 92,843,629 (GRCm39)	P250S	probably damaging	Het
Sfr1	G	A	19: 47,721,227 (GRCm39)		probably benign	Het
Skic8	T	C	9: 54,635,545 (GRCm39)	I19V	probably damaging	Het
Tmem184a	T	C	5: 139,798,832 (GRCm39)	E39G	probably benign	Het
Trim66	C	T	7: 109,076,837 (GRCm39)		probably benign	Het
Ugt2b35	A	G	5: 87,149,004 (GRCm39)	Y85C	possibly damaging	Het
Uts2r	G	T	11: 121,051,213 (GRCm39)	G26C	possibly damaging	Het
Vmn2r88	A	T	14: 51,651,611 (GRCm39)	E308D	probably benign	Het

Other mutations in Akr1b8

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
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