Mutagenetix > Incidental Mutation

Incidental Mutation 'R8867:Cyp4b1'

675994

Institutional Source

Beutler Lab

Gene Symbol

Cyp4b1

Ensembl Gene

ENSMUSG00000028713

Gene Name

cytochrome P450, family 4, subfamily b, polypeptide 1

Synonyms

MMRRC Submission

068682-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8867 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

115481922-115504920 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 115493169 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Histidine at position 225 (R225H)

Ref Sequence

ENSEMBL: ENSMUSP00000099768 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000102707]

AlphaFold

Q64462

Predicted Effect

possibly damaging
Transcript: ENSMUST00000102707
AA Change: R225H

PolyPhen 2 Score 0.783 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000099768
Gene: ENSMUSG00000028713
AA Change: R225H

Domain	Start	End	E-Value	Type
transmembrane domain	13	35	N/A	INTRINSIC
Pfam:p450	46	501	1.3e-130	PFAM

Predicted Effect

SMART Domains

Protein: ENSMUSP00000118323
Gene: ENSMUSG00000028713
AA Change: R135H

Domain	Start	End	E-Value	Type
Pfam:p450	1	375	3.5e-101	PFAM

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.9%

Validation Efficiency

99% (78/79)

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 cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This protein localizes to the endoplasmic reticulum. In rodents, the homologous protein has been shown to metabolize certain carcinogens; however, the specific function of the human protein has not been determined. Multiple transcript variants have been found for this gene. [provided by RefSeq, Jan 2016]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit resistance to 4-ipomeanol activation and toxicity. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310002L09Rik	G	A	4: 73,861,087 (GRCm39)	S171F	probably damaging	Het
A130010J15Rik	T	C	1: 192,857,406 (GRCm39)	S253P	probably damaging	Het
Acbd5	T	C	2: 22,970,370 (GRCm39)	M97T	possibly damaging	Het
Aire	T	C	10: 77,873,809 (GRCm39)	E300G	probably damaging	Het
Ano1	A	G	7: 144,223,397 (GRCm39)	S99P	possibly damaging	Het
Ap5z1	A	G	5: 142,463,011 (GRCm39)	N732D	probably benign	Het
Apcs	A	T	1: 172,722,004 (GRCm39)	L114Q	possibly damaging	Het
Apmap	T	C	2: 150,431,886 (GRCm39)		probably benign	Het
Ark2c	T	C	18: 77,563,182 (GRCm39)	E159G	possibly damaging	Het
Asxl3	C	A	18: 22,649,547 (GRCm39)	T512N	possibly damaging	Het
Atp1a4	T	C	1: 172,072,491 (GRCm39)	T388A	probably damaging	Het
B3galt9	A	G	2: 34,728,636 (GRCm39)	D145G	probably damaging	Het
Bcl2a1a	A	T	9: 88,839,503 (GRCm39)	I134L	probably damaging	Het
Chd6	G	A	2: 160,862,989 (GRCm39)	A444V	probably benign	Het
Cmbl	C	A	15: 31,582,073 (GRCm39)	H23Q	probably benign	Het
Cnnm2	T	A	19: 46,750,996 (GRCm39)	I262N	probably damaging	Het
Col6a3	C	T	1: 90,715,673 (GRCm39)	R2260H	unknown	Het
Cracr2a	T	A	6: 127,606,736 (GRCm39)	L260*	probably null	Het
Csmd2	A	G	4: 128,451,469 (GRCm39)	Y3409C		Het
Dcdc2a	C	T	13: 25,386,266 (GRCm39)	A380V	probably benign	Het
Dnah6	A	G	6: 72,998,131 (GRCm39)	L4097P	probably damaging	Het
Dppa3	G	A	6: 122,605,602 (GRCm39)	R52Q	probably benign	Het
Fbxo31	C	T	8: 122,281,967 (GRCm39)	R311H	probably benign	Het
Fhad1	T	C	4: 141,656,885 (GRCm39)	R90G	probably damaging	Het
Fitm2	A	T	2: 163,311,602 (GRCm39)	W204R	possibly damaging	Het
Gatb	T	A	3: 85,511,716 (GRCm39)	L157H	probably damaging	Het
Gm5111	G	A	6: 48,566,629 (GRCm39)		probably null	Het
Gm7298	A	C	6: 121,748,788 (GRCm39)	I688L	probably benign	Het
Hecw1	T	C	13: 14,422,275 (GRCm39)		probably null	Het
Ift122	T	A	6: 115,857,632 (GRCm39)	V126E	probably damaging	Het
Iqcf6	A	T	9: 106,504,698 (GRCm39)	I121F	possibly damaging	Het
Kif21a	A	G	15: 90,852,382 (GRCm39)	V902A	probably damaging	Het
Klhl38	T	C	15: 58,178,435 (GRCm39)	M512V	probably benign	Het
Klk1b1	A	C	7: 43,619,747 (GRCm39)	N102T	probably damaging	Het
Lama4	T	A	10: 38,923,996 (GRCm39)	L468Q	probably damaging	Het
Lilra5	A	T	7: 4,241,165 (GRCm39)	Q34L	possibly damaging	Het
Lrrc7	T	A	3: 157,867,521 (GRCm39)	D740V	probably damaging	Het
Mapk7	G	T	11: 61,384,632 (GRCm39)	P25T	probably benign	Het
Mcm3ap	C	A	10: 76,306,538 (GRCm39)	A217D	probably benign	Het
Mucl3	A	T	17: 35,948,872 (GRCm39)	F242L	probably benign	Het
Ncaph2	A	G	15: 89,254,605 (GRCm39)	E406G	probably benign	Het
Ncor2	T	C	5: 125,179,739 (GRCm39)	I69V	unknown	Het
Nfatc3	A	G	8: 106,805,640 (GRCm39)	S170G	probably damaging	Het
Nptn	G	A	9: 58,526,264 (GRCm39)	R137Q	probably damaging	Het
Nsd1	A	T	13: 55,430,570 (GRCm39)	K1581N	probably damaging	Het
Or1q1	T	C	2: 36,887,691 (GRCm39)	Y290H	probably damaging	Het
Or2t43	A	G	11: 58,457,562 (GRCm39)	L203P	probably damaging	Het
Or51l4	G	A	7: 103,403,893 (GRCm39)	Q300*	probably null	Het
Or52ab2	T	A	7: 102,970,449 (GRCm39)	L277Q		Het
Or5be3	G	T	2: 86,863,803 (GRCm39)	T254K	probably damaging	Het
Or6c211	A	T	10: 129,505,628 (GRCm39)	C253*	probably null	Het
Pdcl	T	C	2: 37,242,348 (GRCm39)	E134G	probably damaging	Het
Pikfyve	T	A	1: 65,283,576 (GRCm39)	Y738N	probably damaging	Het
Pkd1	A	G	17: 24,792,807 (GRCm39)	D1498G	probably damaging	Het
Plxna1	T	C	6: 89,310,079 (GRCm39)	N1029D	probably benign	Het
Ppp3cb	C	A	14: 20,596,517 (GRCm39)		probably benign	Het
Prkn	A	G	17: 11,456,448 (GRCm39)	T91A	probably benign	Het
Rgs18	T	A	1: 144,629,698 (GRCm39)	D187V	probably damaging	Het
Ripor2	C	T	13: 24,822,760 (GRCm39)		probably benign	Het
Rpl3l	G	A	17: 24,954,455 (GRCm39)	G172D	probably damaging	Het
Sdf4	A	G	4: 156,093,759 (GRCm39)	T298A	probably damaging	Het
Skic3	C	T	13: 76,279,428 (GRCm39)	S620L	probably damaging	Het
Slc17a3	T	C	13: 24,039,943 (GRCm39)	V327A		Het
Slc4a1ap	T	A	5: 31,708,059 (GRCm39)	F677L	probably benign	Het
Stoml2	A	G	4: 43,028,256 (GRCm39)	V324A	probably benign	Het
Syne2	A	G	12: 75,989,620 (GRCm39)	Q1833R	probably damaging	Het
Syt6	A	G	3: 103,534,371 (GRCm39)	N481D	possibly damaging	Het
Tert	T	C	13: 73,776,566 (GRCm39)	M439T	probably benign	Het
Thsd7a	A	T	6: 12,338,686 (GRCm39)	D1181E		Het
Tln2	G	A	9: 67,237,832 (GRCm39)	T33I	probably damaging	Het
Top3a	A	G	11: 60,633,481 (GRCm39)	S872P	probably benign	Het
Trim10	T	C	17: 37,181,048 (GRCm39)	L93P	probably benign	Het
Trpc7	C	T	13: 57,008,746 (GRCm39)	S307N	probably benign	Het
Ttn	A	T	2: 76,640,427 (GRCm39)	V13727E	probably damaging	Het
Vmn1r220	T	C	13: 23,368,271 (GRCm39)	S142G	probably benign	Het
Vmn1r32	A	G	6: 66,530,651 (GRCm39)	S42P	probably damaging	Het
Zc3h7b	G	A	15: 81,656,681 (GRCm39)	R166Q	probably benign	Het
Zfp683	C	T	4: 133,785,995 (GRCm39)	T374I	probably damaging	Het

Other mutations in Cyp4b1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01677:Cyp4b1	APN	4	115,493,479 (GRCm39)	missense	probably damaging	0.97
IGL02484:Cyp4b1	APN	4	115,504,754 (GRCm39)	missense	probably benign	0.00
IGL03111:Cyp4b1	APN	4	115,493,066 (GRCm39)	splice site	probably benign
IGL03340:Cyp4b1	APN	4	115,499,076 (GRCm39)	missense	probably damaging	1.00
R0026:Cyp4b1	UTSW	4	115,504,718 (GRCm39)	missense	possibly damaging	0.95
R0026:Cyp4b1	UTSW	4	115,504,718 (GRCm39)	missense	possibly damaging	0.95
R0143:Cyp4b1	UTSW	4	115,493,071 (GRCm39)	missense	probably damaging	0.99
R0532:Cyp4b1	UTSW	4	115,484,073 (GRCm39)	missense	probably damaging	1.00
R0725:Cyp4b1	UTSW	4	115,484,024 (GRCm39)	missense	probably damaging	1.00
R0970:Cyp4b1	UTSW	4	115,492,833 (GRCm39)	missense	probably benign	0.07
R1084:Cyp4b1	UTSW	4	115,497,509 (GRCm39)	missense	probably benign	0.00
R1570:Cyp4b1	UTSW	4	115,493,160 (GRCm39)	missense	probably benign	0.00
R1626:Cyp4b1	UTSW	4	115,498,855 (GRCm39)	missense	probably damaging	1.00
R1966:Cyp4b1	UTSW	4	115,483,076 (GRCm39)	missense	probably benign	0.13
R2279:Cyp4b1	UTSW	4	115,497,557 (GRCm39)	missense	probably benign	0.23
R2396:Cyp4b1	UTSW	4	115,498,843 (GRCm39)	missense	probably benign	0.43
R2679:Cyp4b1	UTSW	4	115,485,894 (GRCm39)	missense	probably benign	0.01
R2885:Cyp4b1	UTSW	4	115,492,849 (GRCm39)	missense	probably damaging	1.00
R3176:Cyp4b1	UTSW	4	115,483,047 (GRCm39)	missense	possibly damaging	0.87
R3276:Cyp4b1	UTSW	4	115,483,047 (GRCm39)	missense	possibly damaging	0.87
R4375:Cyp4b1	UTSW	4	115,493,510 (GRCm39)	missense	probably benign	0.35
R7221:Cyp4b1	UTSW	4	115,493,175 (GRCm39)	missense	possibly damaging	0.92
R7584:Cyp4b1	UTSW	4	115,485,884 (GRCm39)	missense	probably damaging	0.98
R7699:Cyp4b1	UTSW	4	115,499,162 (GRCm39)	missense	probably benign	0.06
R9076:Cyp4b1	UTSW	4	115,482,424 (GRCm39)	missense	probably damaging	1.00
R9440:Cyp4b1	UTSW	4	115,493,581 (GRCm39)	missense	probably damaging	0.99
X0058:Cyp4b1	UTSW	4	115,485,975 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- CTGCATCAAGAAGGGTTCAGAG -3'
(R):5'- GCCTTGATATGTCCAGAGCC -3'

Sequencing Primer
(F):5'- CATCAAGAAGGGTTCAGAGGATCC -3'
(R):5'- GATATGTCCAGAGCCTACTCATGG -3'

Posted On

2021-07-15