Mutagenetix > Incidental Mutations

Incidental Mutation 'R4674:Akr1b8'

470288

Institutional Source

Beutler Lab

Gene Symbol

Akr1b8

Ensembl Gene

ENSMUSG00000029762

Gene Name

aldo-keto reductase family 1, member B8

Synonyms

Fgfrp, Fgrp

MMRRC Submission

041929-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4674 (G1)

Quality Score

188

Status

Not validated

Chromosome

Chromosomal Location

34354119-34368463 bp(+) (GRCm38)

Type of Mutation

critical splice donor site (1 bp from exon)

DNA Base Change (assembly)

G to A at 34356424 bp

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000040244 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000038406] [ENSMUST00000038406]

PDB Structure

FR-1 PROTEIN/NADPH/ZOPOLRESTAT COMPLEX [X-RAY DIFFRACTION]

Predicted Effect

probably null
Transcript: ENSMUST00000038406

SMART Domains

Protein: ENSMUSP00000040244
Gene: ENSMUSG00000029762

Domain	Start	End	E-Value	Type
Pfam:Aldo_ket_red	15	294	4.1e-62	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000038406

SMART Domains

Protein: ENSMUSP00000040244
Gene: ENSMUSG00000029762

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

1x: 99.2%
3x: 98.5%
10x: 97.0%
20x: 94.6%

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: 84 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb1b	T	C	5: 8,810,615	I112T	probably benign	Het
Acvr1b	T	C	15: 101,203,058	I367T	possibly damaging	Het
Ash1l	T	C	3: 89,072,476	V2769A	possibly damaging	Het
Asxl3	A	T	18: 22,517,738	D928V	probably damaging	Het
Atp1a4	A	T	1: 172,257,656	V66E	possibly damaging	Het
Cald1	AAGAGAGAGAGAGAG	AAGAGAGAGAGAG	6: 34,746,173		probably null	Het
Cbx2	T	A	11: 119,029,109	I500N	probably damaging	Het
Ccdc82	A	T	9: 13,252,635	H184L	probably benign	Het
Cd84	A	T	1: 171,873,320	H216L	possibly damaging	Het
Ceacam15	T	C	7: 16,673,485	T36A	probably benign	Het
Cebpd	A	G	16: 15,887,521	D66G	probably damaging	Het
Clec1b	C	A	6: 129,400,134	L47I	probably damaging	Het
Cracr2b	A	G	7: 141,463,538	D43G	probably damaging	Het
Crbn	T	A	6: 106,790,971	Q173L	possibly damaging	Het
Cspg4	T	C	9: 56,898,205	V2100A	probably damaging	Het
Cyp46a1	T	C	12: 108,358,086	L374P	probably damaging	Het
Dhx16	T	A	17: 35,885,939	V607E	probably damaging	Het
Dido1	A	G	2: 180,687,559	S357P	probably damaging	Het
Dnah6	T	A	6: 73,192,422	I399F	probably benign	Het
Dock10	T	C	1: 80,606,620	E123G	possibly damaging	Het
Dstyk	A	G	1: 132,463,390	D843G	probably benign	Het
Efcab12	C	A	6: 115,823,649	V138F	probably damaging	Het
Egf	A	G	3: 129,718,040	F493L	probably damaging	Het
Ephx1	A	G	1: 180,994,691	F220S	probably damaging	Het
Exoc6	T	C	19: 37,609,082	F644L	probably damaging	Het
F13b	A	G	1: 139,501,804	Y20C	unknown	Het
Fam184b	T	A	5: 45,582,888	K319*	probably null	Het
Fam208b	T	C	13: 3,573,686	E1406G	possibly damaging	Het
Flrt2	T	A	12: 95,780,688	L600*	probably null	Het
Gbgt1	T	C	2: 28,498,441	F46S	possibly damaging	Het
Gli2	T	C	1: 118,836,029	E1464G	probably damaging	Het
Gm21731	T	C	13: 120,240,826	W53R	probably damaging	Het
H2afy	A	C	13: 56,083,184	C297G	possibly damaging	Het
Hdac9	A	G	12: 34,373,960	V501A	possibly damaging	Het
Heca	T	C	10: 17,915,309	H333R	probably benign	Het
Hirip3	G	A	7: 126,864,662		probably null	Het
Igsf8	G	A	1: 172,318,912	W51*	probably null	Het
Kif21a	C	A	15: 90,940,545	R1342L	possibly damaging	Het
Krt73	T	C	15: 101,802,075	N75D	probably benign	Het
Macf1	T	A	4: 123,472,397	Y1292F	probably benign	Het
Mapk14	A	G	17: 28,745,022		probably null	Het
Mgat5	T	A	1: 127,390,758	V330D	probably damaging	Het
Mrc2	G	A	11: 105,348,431		probably null	Het
Naip1	A	T	13: 100,444,174	F188L	probably damaging	Het
Ncoa3	T	C	2: 166,059,811	S1035P	probably benign	Het
Ndn	T	A	7: 62,348,822	W139R	probably damaging	Het
Nes	T	C	3: 87,971,795	V198A	possibly damaging	Het
Olfr1212	G	T	2: 88,958,872	M135I	probably damaging	Het
Olfr1260	A	G	2: 89,977,906	I43V	possibly damaging	Het
Olfr1465	T	A	19: 13,313,814	H157L	probably benign	Het
Olfr497	T	C	7: 108,423,102	V177A	possibly damaging	Het
Olfr613	T	G	7: 103,551,976	L64V	probably damaging	Het
Olfr656	T	A	7: 104,618,424	C248*	probably null	Het
Pcf11	G	A	7: 92,659,777		probably benign	Het
Pde1a	TCC	TC	2: 79,898,181		probably benign	Het
Pipox	T	G	11: 77,893,770	Q4P	probably benign	Het
Pla2g4c	C	T	7: 13,343,514	T327I	probably null	Het
Plppr1	C	T	4: 49,323,384	R225W	probably damaging	Het
Pnpla6	T	A	8: 3,521,412	V145D	probably damaging	Het
Pnpla7	T	C	2: 25,052,317	Y83H	probably damaging	Het
Rif1	T	A	2: 52,106,942	L970Q	probably null	Het
Rimklb	C	A	6: 122,456,283	E303*	probably null	Het
Rpl13a	A	T	7: 45,126,818		probably benign	Het
Rttn	T	A	18: 89,011,011		probably null	Het
Sf3b3	G	A	8: 110,844,505	R10W	probably damaging	Het
Skint4	G	A	4: 112,118,233	C130Y	probably damaging	Het
Snap91	A	G	9: 86,792,017	S593P	possibly damaging	Het
Ssb	A	G	2: 69,868,850	Q209R	probably benign	Het
Stap1	A	T	5: 86,081,185	I71L	probably benign	Het
Syna	C	A	5: 134,558,355	R580L	probably damaging	Het
Tacc2	T	A	7: 130,624,861	M1111K	possibly damaging	Het
Tanc2	T	C	11: 105,867,480	L689P	probably damaging	Het
Tdrd5	A	C	1: 156,277,435	C463W	probably damaging	Het
Tet1	A	G	10: 62,838,848	F1150L	probably damaging	Het
Tia1	T	A	6: 86,420,400	F118L	probably damaging	Het
Trav3-1	A	T	14: 52,581,003	T45S	possibly damaging	Het
Uaca	A	T	9: 60,854,429	Y235F	possibly damaging	Het
Ube4b	T	C	4: 149,331,370	N44S	possibly damaging	Het
Vmn2r93	T	A	17: 18,304,993	H304Q	probably benign	Het
Wdr18	A	G	10: 79,965,235	I161V	probably benign	Het
Zfp112	A	G	7: 24,126,974	H789R	probably damaging	Het
Zfp873	A	G	10: 82,059,980	T182A	possibly damaging	Het
Zscan2	T	A	7: 80,875,402	S290R	probably damaging	Het
Zufsp	A	T	10: 33,948,984	D167E	possibly 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
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
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
R4696:Akr1b8	UTSW	6	34363377	missense	probably benign	0.01
R7209:Akr1b8	UTSW	6	34356272	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- TAAGAGTGTCCTTTGCAATGGCC -3'
(R):5'- GGAGCCATCCTTGTTATGGG -3'

Sequencing Primer
(F):5'- GCAATGGCCTTTTCTATTGCC -3'
(R):5'- GAGCCATCCTTGTTATGGGAAAAC -3'

Posted On

2017-03-08