Mutagenetix > Incidental Mutations

Incidental Mutation 'R4696:Akr1b8'

355689

Institutional Source

Beutler Lab

Gene Symbol

Akr1b8

Ensembl Gene

ENSMUSG00000029762

Gene Name

aldo-keto reductase family 1, member B8

Synonyms

Fgfrp, Fgrp

MMRRC Submission

041946-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4696 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

34354119-34368463 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 34363377 bp

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 159 (V159I)

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: V159I

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000040244
Gene: ENSMUSG00000029762
AA Change: V159I

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: 97.1%
20x: 94.9%

Validation Efficiency

99% (74/75)

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: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700027J19Rik	G	A	7: 4,151,615	P58L	possibly damaging	Het
Abcc3	T	C	11: 94,350,991	S1405G	probably benign	Het
Acaca	T	C	11: 84,280,435	V1165A	possibly damaging	Het
Acin1	C	A	14: 54,643,017		probably benign	Het
Alms1	T	C	6: 85,620,522	Y777H	probably damaging	Het
Cblc	C	A	7: 19,796,482	G101C	probably damaging	Het
Cic	A	G	7: 25,288,483	N1532S	probably benign	Het
Cipc	T	A	12: 86,952,940		probably benign	Het
Clca4b	T	C	3: 144,911,385	I835V	probably benign	Het
Cntrob	C	T	11: 69,320,888	G170D	probably damaging	Het
Col14a1	A	G	15: 55,372,602	Q304R	unknown	Het
Csmd3	T	C	15: 47,913,968	T1181A	probably benign	Het
Dchs1	A	G	7: 105,764,627	F994L	probably damaging	Het
Ddx42	C	A	11: 106,247,703	A776D	probably benign	Het
Ddx58	A	G	4: 40,203,798		probably benign	Het
Disp2	G	T	2: 118,791,684	E966*	probably null	Het
Dmpk	A	T	7: 19,088,214	N366Y	probably damaging	Het
Dmrt1	A	G	19: 25,603,310	Y362C	possibly damaging	Het
Dock10	C	T	1: 80,515,613	G1880D	possibly damaging	Het
Dzip1l	A	G	9: 99,663,611	R638G	possibly damaging	Het
Dzip3	T	A	16: 48,925,969		probably benign	Het
Ear-ps2	G	A	14: 44,047,060		noncoding transcript	Het
Eno4	T	C	19: 58,945,636	S90P	probably damaging	Het
Epn2	C	G	11: 61,535,303	A283P	probably damaging	Het
Eya3	T	A	4: 132,670,232	Y67*	probably null	Het
Fat2	T	C	11: 55,285,015	N1624S	probably benign	Het
Fez1	T	A	9: 36,870,470		probably null	Het
Fgfr1	T	C	8: 25,563,488	S260P	probably damaging	Het
Glb1	A	G	9: 114,464,152	S532G	probably benign	Het
Gm15455	A	T	1: 33,837,793		noncoding transcript	Het
Grid2ip	A	G	5: 143,391,376		probably benign	Het
Guca2b	C	A	4: 119,656,799	G129V	probably damaging	Het
Hes3	T	C	4: 152,287,667	E65G	probably damaging	Het
Itgbl1	T	C	14: 123,966,708	C404R	probably damaging	Het
Kansl1	C	T	11: 104,356,767	V586I	possibly damaging	Het
Krt18	A	G	15: 102,031,858	D390G	probably benign	Het
Laptm5	T	C	4: 130,933,671		probably benign	Het
Lgals3bp	C	T	11: 118,398,151	E116K	probably benign	Het
Lrrc39	C	T	3: 116,570,120	S114F	probably damaging	Het
Mfap3	T	C	11: 57,528,291		probably null	Het
Nphp3	A	G	9: 104,022,732	H481R	probably benign	Het
Ntm	T	C	9: 29,179,205	T73A	possibly damaging	Het
Olfr1026	T	A	2: 85,918,871		probably null	Het
Olfr967	T	A	9: 39,750,728	M114K	probably damaging	Het
Pbk	G	A	14: 65,811,937	C21Y	probably benign	Het
Pglyrp1	A	G	7: 18,884,946	E74G	probably benign	Het
R3hdm1	G	T	1: 128,236,766		probably benign	Het
Rap1gds1	T	C	3: 138,927,614	T599A	probably damaging	Het
Rims1	A	T	1: 22,288,612	M1273K	probably damaging	Het
Sbf1	G	A	15: 89,303,112	R721*	probably null	Het
Slc17a1	T	C	13: 23,880,717	I388T	probably damaging	Het
Sprn	A	C	7: 140,153,556		probably benign	Het
Tango6	T	C	8: 106,700,231	V459A	possibly damaging	Het
Tert	C	T	13: 73,627,820	T230I	probably benign	Het
Thada	T	C	17: 84,426,186	D1011G	possibly damaging	Het
Tln2	C	T	9: 67,395,461	R76Q	probably damaging	Het
Trip11	A	T	12: 101,885,290	N838K	possibly damaging	Het
Ttn	A	G	2: 76,767,653	W19639R	probably damaging	Het
Ubr4	T	A	4: 139,408,672	S924T	probably benign	Het
Upb1	A	G	10: 75,415,027	E110G	probably benign	Het
Vegfa	C	T	17: 46,028,346		probably null	Het
Vmn1r231	T	C	17: 20,890,639	K5E	possibly damaging	Het
Vmn2r16	A	T	5: 109,339,302	I130F	probably benign	Het
Wscd2	T	A	5: 113,551,179	V82E	probably benign	Het
Zfp462	A	G	4: 55,008,612	T193A	probably benign	Het
Zfp467	A	G	6: 48,439,357		probably benign	Het
Zfp619	T	C	7: 39,536,988	L814P	probably benign	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
R4674:Akr1b8	UTSW	6	34356424	critical splice donor site	probably null
R7209:Akr1b8	UTSW	6	34356272	missense	probably damaging	0.99

Predicted Primers

Posted On

2015-10-21