Mutagenetix > Incidental Mutation

Incidental Mutation 'R2679:Cyp4b1'

250731

Institutional Source

Beutler Lab

Gene Symbol

Cyp4b1

Ensembl Gene

ENSMUSG00000028713

Gene Name

cytochrome P450, family 4, subfamily b, polypeptide 1

Synonyms

MMRRC Submission

040432-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2679 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

115481922-115504920 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 115485894 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 348 (I348V)

Ref Sequence

ENSEMBL: ENSMUSP00000099768 (fasta)

Gene Model

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

AlphaFold

Q64462

Predicted Effect

probably benign
Transcript: ENSMUST00000102707
AA Change: I348V

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000099768
Gene: ENSMUSG00000028713
AA Change: I348V

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

Predicted Effect

probably benign
Transcript: ENSMUST00000135569

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000143237

Predicted Effect

unknown
Transcript: ENSMUST00000145841
AA Change: I272V

SMART Domains

Protein: ENSMUSP00000118323
Gene: ENSMUSG00000028713
AA Change: I272V

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

Meta Mutation Damage Score

0.1103

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.0%

Validation Efficiency

97% (67/69)

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: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Asic2	A	G	11: 81,042,780 (GRCm39)	V171A	probably benign	Het
Atf7ip	A	T	6: 136,543,649 (GRCm39)	I641L	possibly damaging	Het
Atrn	G	A	2: 130,803,595 (GRCm39)		probably null	Het
Bpifb4	T	C	2: 153,790,544 (GRCm39)	I145T	probably damaging	Het
Bub3	A	G	7: 131,170,454 (GRCm39)		probably null	Het
Catsperb	T	A	12: 101,429,404 (GRCm39)	D192E	probably damaging	Het
Ccdc178	G	A	18: 21,944,613 (GRCm39)	H849Y	possibly damaging	Het
Cd101	G	T	3: 100,901,079 (GRCm39)	Q998K	probably benign	Het
Cep135	A	T	5: 76,772,507 (GRCm39)	M631L	probably benign	Het
Cit	T	C	5: 116,107,174 (GRCm39)	V1102A	probably benign	Het
Col4a4	G	A	1: 82,507,332 (GRCm39)	T249M	unknown	Het
Cpne6	A	T	14: 55,753,786 (GRCm39)	I415F	possibly damaging	Het
Defb28	T	C	2: 152,360,202 (GRCm39)	S6P	possibly damaging	Het
Dhrs7b	A	G	11: 60,743,344 (GRCm39)		probably benign	Het
Dhx29	T	C	13: 113,083,910 (GRCm39)		probably null	Het
Egfem1	A	G	3: 29,724,825 (GRCm39)	T476A	probably benign	Het
Enpp5	A	G	17: 44,396,279 (GRCm39)	D397G	probably damaging	Het
Eogt	G	A	6: 97,097,761 (GRCm39)	T279I	probably benign	Het
Fnip2	G	A	3: 79,388,233 (GRCm39)	H833Y	probably benign	Het
Gabrr2	A	T	4: 33,071,435 (GRCm39)	T92S	probably damaging	Het
Gm10110	T	A	14: 90,134,852 (GRCm39)		noncoding transcript	Het
Gria2	A	G	3: 80,648,260 (GRCm39)		probably benign	Het
Hmcn1	G	T	1: 150,528,326 (GRCm39)	T3274N	possibly damaging	Het
Hnrnpul1	C	T	7: 25,426,300 (GRCm39)	R517Q	probably damaging	Het
Hspa1b	T	C	17: 35,176,279 (GRCm39)	K569E	probably benign	Het
Ighv1-82	T	C	12: 115,916,372 (GRCm39)	Y46C	probably damaging	Het
Itga3	A	T	11: 94,959,136 (GRCm39)		probably benign	Het
Lrrc7	T	A	3: 157,880,745 (GRCm39)	R552*	probably null	Het
Med13	A	G	11: 86,189,403 (GRCm39)	S1169P	probably benign	Het
Muc4	T	A	16: 32,577,846 (GRCm39)	D2374E	unknown	Het
Myl9	T	A	2: 156,622,426 (GRCm39)	L70Q	probably damaging	Het
Nebl	C	T	2: 17,429,402 (GRCm39)	S243N	probably benign	Het
Nfat5	A	G	8: 108,071,546 (GRCm39)	Y314C	probably damaging	Het
Nr2f6	T	A	8: 71,827,380 (GRCm39)	D307V	probably damaging	Het
Nrp2	T	C	1: 62,824,237 (GRCm39)	S781P	probably benign	Het
Nub1	C	T	5: 24,897,923 (GRCm39)	T103I	possibly damaging	Het
Or4b1d	A	T	2: 89,968,889 (GRCm39)	V198D	possibly damaging	Het
Or51h5	T	A	7: 102,577,238 (GRCm39)	Y134*	probably null	Het
Pex5l	A	T	3: 33,136,201 (GRCm39)	M6K	probably benign	Het
Pgm3	A	C	9: 86,451,374 (GRCm39)	C93W	probably benign	Het
Pkhd1	A	G	1: 20,279,406 (GRCm39)	S2971P	probably benign	Het
Pkhd1l1	T	C	15: 44,408,782 (GRCm39)	L2423P	probably damaging	Het
Prkce	A	G	17: 86,483,654 (GRCm39)		probably benign	Het
Ptbp3	A	G	4: 59,494,615 (GRCm39)		probably benign	Het
Ptgis	T	A	2: 167,050,113 (GRCm39)	M339L	probably benign	Het
Pxdn	T	C	12: 30,025,568 (GRCm39)		probably benign	Het
Rab44	T	A	17: 29,363,451 (GRCm39)		probably null	Het
Ric1	A	G	19: 29,581,430 (GRCm39)	S1275G	probably benign	Het
Rnf213	C	A	11: 119,350,764 (GRCm39)		probably null	Het
Rtn4rl1	A	T	11: 75,156,552 (GRCm39)	E328V	probably benign	Het
Saraf	C	T	8: 34,632,428 (GRCm39)	T169I	probably damaging	Het
Sbk2	T	A	7: 4,960,119 (GRCm39)		probably null	Het
Setd1a	T	G	7: 127,394,896 (GRCm39)		probably benign	Het
Sit1	A	G	4: 43,483,157 (GRCm39)	Y73H	probably damaging	Het
Slc44a4	T	C	17: 35,142,399 (GRCm39)		probably benign	Het
Spopfm1	A	T	3: 94,173,217 (GRCm39)	Y75F	probably damaging	Het
Tas2r125	A	G	6: 132,887,190 (GRCm39)	T193A	probably benign	Het
Tbc1d9b	T	A	11: 50,052,528 (GRCm39)		probably null	Het
Tcf7l1	G	T	6: 72,604,403 (GRCm39)	H580Q	probably benign	Het
Tead1	T	G	7: 112,456,053 (GRCm39)	S115A	probably damaging	Het
Top2b	G	A	14: 16,413,947 (GRCm38)	G29D	probably damaging	Het
Trpv4	A	T	5: 114,773,613 (GRCm39)	C250S	probably damaging	Het
U2surp	A	C	9: 95,358,285 (GRCm39)	I655S	possibly damaging	Het
Ube2a	G	A	X: 36,138,360 (GRCm39)		probably benign	Het
Ubl7	A	G	9: 57,821,882 (GRCm39)	D77G	probably damaging	Het
Vmn1r91	T	C	7: 19,835,983 (GRCm39)	C301R	probably damaging	Het
Vmn2r90	A	T	17: 17,933,131 (GRCm39)	R230S	possibly damaging	Het
Wdfy3	T	A	5: 102,017,902 (GRCm39)	E2560V	probably damaging	Het
Zfp273	C	T	13: 67,973,895 (GRCm39)	A341V	probably benign	Het
Zfp512	C	T	5: 31,622,798 (GRCm39)	A33V	probably benign	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
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
R8867:Cyp4b1	UTSW	4	115,493,169 (GRCm39)	missense	possibly damaging	0.78
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'- TTAGCCCGCAAGAAAGCTATAC -3'
(R):5'- ACAGCTACTGTTGGGCATTCTTC -3'

Sequencing Primer
(F):5'- CAACAACAATAAGAAACAAATGCTGC -3'
(R):5'- GTTGGGCATTCTTCTCATCCCTAAC -3'

Posted On

2014-12-04