Mutagenetix > Incidental Mutation

Incidental Mutation 'R9799:Akr1b8'

735094

Institutional Source

Beutler Lab

Gene Symbol

Akr1b8

Ensembl Gene

ENSMUSG00000029762

Gene Name

aldo-keto reductase family 1, member B8

Synonyms

Fgfrp, Fgrp

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9799 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

34331081-34345396 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 34333278 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Lysine at position 52 (E52K)

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

possibly damaging
Transcript: ENSMUST00000038406
AA Change: E52K

PolyPhen 2 Score 0.950 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000040244
Gene: ENSMUSG00000029762
AA Change: E52K

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

Coding Region Coverage

1x: 99.9%
3x: 99.8%
10x: 99.5%
20x: 98.7%

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: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca16	A	G	7: 120,132,998 (GRCm39)	Y1309C	probably benign	Het
Adcy2	T	C	13: 68,768,961 (GRCm39)	T1056A	probably benign	Het
Adcy2	T	A	13: 68,805,489 (GRCm39)	R826S	probably damaging	Het
Agxt	T	C	1: 93,063,070 (GRCm39)	W19R	probably benign	Het
Arhgef10	T	C	8: 14,990,268 (GRCm39)	Y248H	probably damaging	Het
Arhgef38	T	C	3: 132,855,391 (GRCm39)	D232G	unknown	Het
Arid4b	T	C	13: 14,358,967 (GRCm39)	S668P	probably benign	Het
Ccdc136	T	A	6: 29,417,505 (GRCm39)	S775R	probably damaging	Het
Ccl25	T	C	8: 4,377,799 (GRCm39)	F20L	unknown	Het
Cimap1a	A	T	7: 140,430,706 (GRCm39)	E254D	probably benign	Het
Cr2	T	A	1: 194,842,988 (GRCm39)	H218L	probably benign	Het
Csnka2ip	T	C	16: 64,298,672 (GRCm39)	K564R	unknown	Het
Cyp2r1	A	G	7: 114,151,207 (GRCm39)	F371L	probably benign	Het
Ddx50	A	T	10: 62,469,812 (GRCm39)	F392I	probably damaging	Het
Dnah7a	T	C	1: 53,557,968 (GRCm39)	T2149A	probably benign	Het
Emx2	A	G	19: 59,448,036 (GRCm39)	Y130C	possibly damaging	Het
Erbin	T	C	13: 103,971,384 (GRCm39)	D744G	probably benign	Het
Gcm2	T	C	13: 41,258,924 (GRCm39)	N140S	probably damaging	Het
Gnai2	C	T	9: 107,512,380 (GRCm39)	A13T	probably benign	Het
Gpr150	T	C	13: 76,204,636 (GRCm39)	Y103C	possibly damaging	Het
Gstp2	A	G	19: 4,091,901 (GRCm39)		probably null	Het
Kdr	A	G	5: 76,117,752 (GRCm39)	I667T	possibly damaging	Het
Lpin1	A	G	12: 16,612,400 (GRCm39)	I534T		Het
Lrrtm3	T	A	10: 63,925,749 (GRCm39)		probably benign	Het
Meiob	C	T	17: 25,042,574 (GRCm39)	T134I	probably benign	Het
Msh2	G	T	17: 88,024,933 (GRCm39)	A604S	probably damaging	Het
Mterf3	T	C	13: 67,062,780 (GRCm39)	T319A	possibly damaging	Het
Myo3a	C	T	2: 22,490,181 (GRCm39)	T1514I	probably damaging	Het
Ndfip2	T	C	14: 105,496,400 (GRCm39)	M98T	possibly damaging	Het
Nfatc2ip	A	G	7: 125,989,739 (GRCm39)	V215A	probably damaging	Het
Or52e19	A	T	7: 102,959,065 (GRCm39)	T46S	probably damaging	Het
Or8k41	A	T	2: 86,313,732 (GRCm39)	M118K	probably damaging	Het
Pabpc6	C	T	17: 9,888,114 (GRCm39)	E146K	probably damaging	Het
Pde3b	A	G	7: 114,122,613 (GRCm39)	Y727C	probably damaging	Het
Pemt	A	G	11: 59,937,174 (GRCm39)	F30L	possibly damaging	Het
Plch1	A	G	3: 63,605,591 (GRCm39)	S1438P	possibly damaging	Het
Pnma2	T	A	14: 67,154,009 (GRCm39)	H144Q	probably benign	Het
Ppp1r14b	A	G	19: 6,952,825 (GRCm39)	N70S	possibly damaging	Het
Psmd1	T	A	1: 86,054,236 (GRCm39)	M725K	possibly damaging	Het
Rab3gap1	A	G	1: 127,858,489 (GRCm39)	K533E	probably benign	Het
Rb1cc1	C	A	1: 6,315,126 (GRCm39)	H426Q	probably damaging	Het
Rimbp3	A	G	16: 17,027,641 (GRCm39)	E355G	possibly damaging	Het
Rxfp1	A	G	3: 79,578,182 (GRCm39)	F170L	probably damaging	Het
Sema3f	G	T	9: 107,562,562 (GRCm39)	A473E	probably damaging	Het
Serpinb3a	T	G	1: 106,974,892 (GRCm39)	I214L	probably benign	Het
Siglec1	G	T	2: 130,915,941 (GRCm39)	P1307Q	probably damaging	Het
Srd5a2	A	C	17: 74,331,535 (GRCm39)	I154S	possibly damaging	Het
Sugp1	A	G	8: 70,523,068 (GRCm39)	E537G	probably damaging	Het
Tbc1d30	T	C	10: 121,142,074 (GRCm39)	E91G	possibly damaging	Het
Tiparp	A	T	3: 65,454,973 (GRCm39)	N373Y	probably benign	Het
Tmem217	A	C	17: 29,745,232 (GRCm39)	I166S	probably damaging	Het
Top1	T	A	2: 160,563,406 (GRCm39)	Y746N	probably damaging	Het
Tubb2a	C	T	13: 34,260,607 (GRCm39)	D31N	probably benign	Het
Utrn	T	G	10: 12,585,736 (GRCm39)	I1014L	probably benign	Het
Vtn	T	C	11: 78,392,625 (GRCm39)	I401T	probably benign	Het
Wwc2	G	T	8: 48,321,595 (GRCm39)	H506Q	unknown	Het
Xab2	G	T	8: 3,668,182 (GRCm39)	T132N	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
IGL02483: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

Predicted Primers

PCR Primer
(F):5'- CAGCATTGCAGGGATTTGGC -3'
(R):5'- TTGGAGCATGGATATTTACACCC -3'

Sequencing Primer
(F):5'- CATTGCAGGGATTTGGCGAAATTG -3'
(R):5'- TTTACACCCAAAGATAGAGTGAGAAC -3'

Posted On

2022-11-14