Mutagenetix > Incidental Mutations

Incidental Mutation 'R0026:Cyp4b1'

189164

Institutional Source

Beutler Lab

Gene Symbol

Cyp4b1

Ensembl Gene

ENSMUSG00000028713

Gene Name

cytochrome P450, family 4, subfamily b, polypeptide 1

Synonyms

MMRRC Submission

038321-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0026 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

115624725-115647723 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 115647521 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Aspartic acid at position 56 (G56D)

Ref Sequence

ENSEMBL: ENSMUSP00000099768 (fasta)

Gene Model

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

AlphaFold

Q64462

Predicted Effect

possibly damaging
Transcript: ENSMUST00000102707
AA Change: G56D

PolyPhen 2 Score 0.947 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000099768
Gene: ENSMUSG00000028713
AA Change: G56D

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000119777

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 99.3%
3x: 98.9%
10x: 97.8%
20x: 96.3%

Validation Efficiency

93% (70/75)

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 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: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110002E22Rik	T	A	3: 138,066,805	I585N	possibly damaging	Het
4931408C20Rik	T	A	1: 26,683,369	D910V	probably benign	Het
A830005F24Rik	C	T	13: 48,514,372		probably benign	Het
Abca16	C	T	7: 120,477,923		probably benign	Het
Acot10	G	A	15: 20,666,236	L140F	probably benign	Het
Adam19	G	T	11: 46,136,259	C573F	probably damaging	Het
Aff3	A	G	1: 38,203,893	S948P	probably benign	Het
Anxa3	T	A	5: 96,838,401	Y300N	probably benign	Het
BC016579	T	C	16: 45,640,367	T113A	probably benign	Het
Bmpr1b	A	G	3: 141,870,733	L113P	probably benign	Het
Casq1	T	C	1: 172,219,400		probably benign	Het
Cdc16	T	A	8: 13,759,130		probably null	Het
Cep135	C	T	5: 76,606,734	R353*	probably null	Het
Cma1	A	T	14: 55,942,164	C188S	probably damaging	Het
Csf3r	A	G	4: 126,031,884	T151A	probably benign	Het
Dbn1	T	C	13: 55,477,784	E275G	probably damaging	Het
Dlgap2	C	T	8: 14,727,363	Q203*	probably null	Het
Ephb3	A	G	16: 21,214,917	D251G	probably damaging	Het
Fancd2os	G	T	6: 113,597,691	T118N	probably damaging	Het
Gm10801	T	C	2: 98,663,909		probably benign	Het
Got1l1	C	T	8: 27,200,248	V132I	probably benign	Het
H2-M9	T	C	17: 36,641,527		probably benign	Het
Ibtk	A	G	9: 85,690,303	V1278A	probably benign	Het
Kctd3	T	C	1: 188,976,621	T519A	probably damaging	Het
Lgsn	T	A	1: 31,203,443	V202D	probably damaging	Het
Madd	A	G	2: 91,175,708	F381L	possibly damaging	Het
Map1s	G	A	8: 70,914,638	G729D	probably damaging	Het
Mlycd	A	G	8: 119,410,435	I465V	probably benign	Het
Mrgprb1	T	C	7: 48,447,204	R108G	possibly damaging	Het
Mrgprx2	T	A	7: 48,482,023	H106L	possibly damaging	Het
Ncor1	T	C	11: 62,438,429	Y6C	probably damaging	Het
Nfkb1	T	C	3: 135,591,573	D773G	probably damaging	Het
Nxnl1	A	G	8: 71,566,573	S3P	probably damaging	Het
Olfr109	T	A	17: 37,466,803	V199D	probably damaging	Het
Olfr921	G	A	9: 38,775,596	V114I	probably benign	Het
Otud7a	T	C	7: 63,735,801	F338L	probably benign	Het
Pdcl3	T	A	1: 38,991,280	L14Q	probably damaging	Het
Pla2g7	T	A	17: 43,594,930		probably benign	Het
Prpf31	T	A	7: 3,639,668	N413K	probably benign	Het
Rapgef5	T	C	12: 117,689,161	S307P	probably benign	Het
Relt	C	A	7: 100,850,221	E164*	probably null	Het
Rnf185	T	C	11: 3,426,617	D86G	probably damaging	Het
Rrm2b	T	C	15: 37,953,741	E21G	probably benign	Het
Scn5a	A	G	9: 119,522,566	I783T	probably damaging	Het
Senp1	T	C	15: 98,076,668	R88G	probably damaging	Het
Skint5	A	T	4: 113,546,468		probably benign	Het
Slc35b1	T	C	11: 95,390,642	S294P	probably benign	Het
Slc5a2	T	A	7: 128,270,053	I335N	probably damaging	Het
Sstr1	T	A	12: 58,212,858	M89K	probably damaging	Het
Szt2	A	T	4: 118,384,772	S1612R	possibly damaging	Het
Taf1c	T	C	8: 119,604,236		probably null	Het
Taf1d	T	A	9: 15,308,648	S64R	probably damaging	Het
Tmem125	A	G	4: 118,542,073	S54P	possibly damaging	Het
Ttf1	T	A	2: 29,071,349	I583N	possibly damaging	Het
Uchl4	A	T	9: 64,235,371		probably null	Het
Unc5b	A	T	10: 60,774,592	I482N	possibly damaging	Het
Unc80	C	A	1: 66,521,584	Q824K	probably benign	Het
Utrn	T	C	10: 12,726,196		probably benign	Het
Vmn2r61	T	G	7: 42,275,474	I484R	possibly damaging	Het
Vps13b	T	C	15: 35,923,301	I3774T	possibly damaging	Het
Yipf1	T	A	4: 107,345,160	L240*	probably null	Het

Other mutations in Cyp4b1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01677:Cyp4b1	APN	4	115636282	missense	probably damaging	0.97
IGL02484:Cyp4b1	APN	4	115647557	missense	probably benign	0.00
IGL03111:Cyp4b1	APN	4	115635869	splice site	probably benign
IGL03340:Cyp4b1	APN	4	115641879	missense	probably damaging	1.00
R0026:Cyp4b1	UTSW	4	115647521	missense	possibly damaging	0.95
R0143:Cyp4b1	UTSW	4	115635874	missense	probably damaging	0.99
R0532:Cyp4b1	UTSW	4	115626876	missense	probably damaging	1.00
R0725:Cyp4b1	UTSW	4	115626827	missense	probably damaging	1.00
R0970:Cyp4b1	UTSW	4	115635636	missense	probably benign	0.07
R1084:Cyp4b1	UTSW	4	115640312	missense	probably benign	0.00
R1570:Cyp4b1	UTSW	4	115635963	missense	probably benign	0.00
R1626:Cyp4b1	UTSW	4	115641658	missense	probably damaging	1.00
R1966:Cyp4b1	UTSW	4	115625879	missense	probably benign	0.13
R2279:Cyp4b1	UTSW	4	115640360	missense	probably benign	0.23
R2396:Cyp4b1	UTSW	4	115641646	missense	probably benign	0.43
R2679:Cyp4b1	UTSW	4	115628697	missense	probably benign	0.01
R2885:Cyp4b1	UTSW	4	115635652	missense	probably damaging	1.00
R3176:Cyp4b1	UTSW	4	115625850	missense	possibly damaging	0.87
R3276:Cyp4b1	UTSW	4	115625850	missense	possibly damaging	0.87
R4375:Cyp4b1	UTSW	4	115636313	missense	probably benign	0.35
R7221:Cyp4b1	UTSW	4	115635978	missense	possibly damaging	0.92
R7584:Cyp4b1	UTSW	4	115628687	missense	probably damaging	0.98
R7699:Cyp4b1	UTSW	4	115641965	missense	probably benign	0.06
R8867:Cyp4b1	UTSW	4	115635972	missense	possibly damaging	0.78
R9076:Cyp4b1	UTSW	4	115625227	missense	probably damaging	1.00
R9440:Cyp4b1	UTSW	4	115636384	missense	probably damaging	0.99
X0058:Cyp4b1	UTSW	4	115628778	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- TGCTTCTGAAGCCAGCTTGAAAGTC -3'
(R):5'- TCTCTGCTCCAAGAGACCAAGGTG -3'

Sequencing Primer
(F):5'- AGCCTCTTGTCTAAATTGATGACC -3'
(R):5'- CAGTGCCCGTATCCAGAGTATAAG -3'

Posted On

2014-05-13