Mutagenetix > Incidental Mutation

Incidental Mutation 'R1570:Cyp4b1'

177169

Institutional Source

Beutler Lab

Gene Symbol

Cyp4b1

Ensembl Gene

ENSMUSG00000028713

Gene Name

cytochrome P450, family 4, subfamily b, polypeptide 1

Synonyms

MMRRC Submission

039609-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1570 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

115481922-115504920 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 115493160 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Phenylalanine at position 228 (S228F)

Ref Sequence

ENSEMBL: ENSMUSP00000099768 (fasta)

Gene Model

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

AlphaFold

Q64462

Predicted Effect

probably benign
Transcript: ENSMUST00000102707
AA Change: S228F

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000099768
Gene: ENSMUSG00000028713
AA Change: S228F

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

Predicted Effect

unknown
Transcript: ENSMUST00000135569
AA Change: S104F

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000143237

Predicted Effect

unknown
Transcript: ENSMUST00000145841
AA Change: S138F

SMART Domains

Protein: ENSMUSP00000118323
Gene: ENSMUSG00000028713
AA Change: S138F

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

Meta Mutation Damage Score

0.1335

Coding Region Coverage

1x: 99.0%
3x: 98.1%
10x: 95.6%
20x: 90.0%

Validation Efficiency

93% (77/83)

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: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Apobec1	A	G	6: 122,568,044 (GRCm39)		probably null	Het
Arhgap21	G	T	2: 20,885,651 (GRCm39)	Q348K	probably benign	Het
Arl5c	A	G	11: 97,883,213 (GRCm39)	V129A	probably benign	Het
Armh1	A	G	4: 117,087,189 (GRCm39)	S159P	probably damaging	Het
Asb8	A	G	15: 98,034,309 (GRCm39)	L82P	probably damaging	Het
Bahcc1	G	A	11: 120,163,009 (GRCm39)	A436T	possibly damaging	Het
Btc	T	C	5: 91,550,576 (GRCm39)	D2G	unknown	Het
C1s2	G	A	6: 124,602,723 (GRCm39)	T490M	probably benign	Het
Caap1	C	T	4: 94,444,814 (GRCm39)	G43D	probably benign	Het
Ccr5	T	C	9: 123,925,000 (GRCm39)	V201A	probably benign	Het
Cd109	CATTTATTTATTTATTTATTTATTTATTTATTTAT	CATTTATTTATTTATTTATTTATTTATTTATTTATTTAT	9: 78,619,782 (GRCm39)		probably benign	Het
Cdhr5	C	A	7: 140,851,682 (GRCm39)	G541C	probably damaging	Het
Cep170	A	G	1: 176,583,367 (GRCm39)	I1004T	possibly damaging	Het
Chd9	A	T	8: 91,763,170 (GRCm39)	M2332L	probably benign	Het
Clk1	T	A	1: 58,453,584 (GRCm39)	H334L	probably benign	Het
Dnah9	T	C	11: 66,003,156 (GRCm39)	N883D	probably benign	Het
Dync2h1	A	G	9: 7,176,926 (GRCm39)	L11P	probably benign	Het
Ephx4	A	G	5: 107,567,717 (GRCm39)	E225G	probably damaging	Het
Erich6	C	T	3: 58,538,080 (GRCm39)		probably null	Het
Espl1	A	G	15: 102,206,802 (GRCm39)	T89A	probably damaging	Het
Evi2	T	A	11: 79,407,076 (GRCm39)	K166N	possibly damaging	Het
Glrx5	A	G	12: 104,999,127 (GRCm39)	T57A	possibly damaging	Het
Gnptab	T	A	10: 88,255,316 (GRCm39)	V222E	probably damaging	Het
Gpr155	T	C	2: 73,200,382 (GRCm39)	Y375C	possibly damaging	Het
Hsd11b1	C	G	1: 192,922,635 (GRCm39)	E141Q	probably damaging	Het
Ildr2	T	C	1: 166,131,154 (GRCm39)	F337L	probably damaging	Het
Ino80	C	T	2: 119,277,509 (GRCm39)	R322Q	possibly damaging	Het
Lcp2	A	G	11: 34,039,601 (GRCm39)	D467G	probably benign	Het
Lmbr1	A	G	5: 29,459,556 (GRCm39)	I229T	probably damaging	Het
Lnpep	A	T	17: 17,799,418 (GRCm39)	M79K	probably damaging	Het
Lpin1	T	C	12: 16,610,999 (GRCm39)	Q564R	possibly damaging	Het
Lpin2	T	A	17: 71,552,176 (GRCm39)	L794*	probably null	Het
Lrrc37	A	G	11: 103,500,764 (GRCm39)	Y597H	possibly damaging	Het
Lrrc45	T	C	11: 120,610,935 (GRCm39)		probably null	Het
Mtus1	A	G	8: 41,529,278 (GRCm39)	S751P	probably damaging	Het
Nbr1	T	C	11: 101,455,656 (GRCm39)		probably benign	Het
Nup107	A	G	10: 117,599,749 (GRCm39)	F592S	possibly damaging	Het
Nup133	T	A	8: 124,675,915 (GRCm39)	M1L	possibly damaging	Het
Or2a20	T	C	6: 43,194,285 (GRCm39)	V146A	probably benign	Het
Or3a10	A	C	11: 73,935,633 (GRCm39)	F156V	possibly damaging	Het
Or4n4	T	G	14: 50,518,981 (GRCm39)	H243P	probably damaging	Het
Or4p8	A	C	2: 88,727,290 (GRCm39)	I217S	probably damaging	Het
Or52b4i	C	A	7: 102,191,177 (GRCm39)	H11Q	probably damaging	Het
Or8i2	A	T	2: 86,852,616 (GRCm39)	S91T	probably benign	Het
Otud7b	T	C	3: 96,063,208 (GRCm39)	C816R	probably damaging	Het
Pi4k2a	T	C	19: 42,089,083 (GRCm39)	V148A	probably benign	Het
Pih1d2	T	C	9: 50,532,479 (GRCm39)	M195T	probably benign	Het
Pira13	T	C	7: 3,826,060 (GRCm39)	E311G	probably benign	Het
Plpp6	T	C	19: 28,942,178 (GRCm39)	F260L	probably damaging	Het
R3hcc1l	A	T	19: 42,570,393 (GRCm39)	T663S	probably damaging	Het
Rnf25	T	C	1: 74,634,426 (GRCm39)	E199G	probably damaging	Het
Scin	G	A	12: 40,134,380 (GRCm39)		probably benign	Het
Serpinb1c	A	T	13: 33,080,973 (GRCm39)	S37T	probably benign	Het
Snx19	A	G	9: 30,339,639 (GRCm39)	D259G	probably damaging	Het
Sorcs3	A	G	19: 48,752,620 (GRCm39)	K805R	probably damaging	Het
Sox6	C	A	7: 115,376,358 (GRCm39)	G125W	probably damaging	Het
Spink5	A	G	18: 44,100,174 (GRCm39)	I64V	probably benign	Het
Spmip10	T	A	18: 56,727,606 (GRCm39)	D101E	probably benign	Het
St6galnac1	A	G	11: 116,657,474 (GRCm39)		probably benign	Het
Sult1c2	T	C	17: 54,143,991 (GRCm39)	I105V	probably benign	Het
Tacr3	T	G	3: 134,535,517 (GRCm39)	S162A	probably damaging	Het
Ttc6	T	C	12: 57,721,549 (GRCm39)	S1013P	probably damaging	Het
Zbtb11	C	A	16: 55,811,178 (GRCm39)	N445K	probably benign	Het
Zfp423	A	C	8: 88,509,186 (GRCm39)	V261G	probably benign	Het
Zfp59	T	C	7: 27,553,016 (GRCm39)	V156A	probably benign	Het
Zscan2	C	A	7: 80,513,141 (GRCm39)	A42E	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
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
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'- TGCCTATACTGGCCCTGCATCAAG -3'
(R):5'- ATGGCACTGGACACCCTCATGAAG -3'

Sequencing Primer
(F):5'- CCTGCATCAAGAAGGGTTCAG -3'
(R):5'- TCCAGAGCCTACTCATGGTG -3'

Posted On

2014-04-24