Mutagenetix > Incidental Mutation

Incidental Mutation 'R9440:Cyp4b1'

713575

Institutional Source

Beutler Lab

Gene Symbol

Cyp4b1

Ensembl Gene

ENSMUSG00000028713

Gene Name

cytochrome P450, family 4, subfamily b, polypeptide 1

Synonyms

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9440 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

115624725-115647723 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 115636384 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Arginine at position 167 (K167R)

Ref Sequence

ENSEMBL: ENSMUSP00000099768 (fasta)

Gene Model

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

AlphaFold

Q64462

Predicted Effect

probably damaging
Transcript: ENSMUST00000102707
AA Change: K167R

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000099768
Gene: ENSMUSG00000028713
AA Change: K167R

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: K77R

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.3%

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 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: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110004E09Rik	A	T	16: 90,929,944	V116E	probably benign	Het
Abca17	G	A	17: 24,280,478	T1359M	probably benign	Het
Acacb	T	A	5: 114,246,024	C2205S	possibly damaging	Het
Akap3	A	G	6: 126,864,628	E70G	probably benign	Het
Aldh1a3	C	A	7: 66,419,244		probably null	Het
Asb4	A	G	6: 5,429,817	I352M	probably benign	Het
Bach1	C	G	16: 87,719,715	S381R	probably benign	Het
BC034090	A	G	1: 155,226,215	L101P	probably benign	Het
Bms1	A	T	6: 118,405,256	D440E	probably benign	Het
Bpifb6	A	T	2: 153,905,994	D191V	probably benign	Het
Cfd	T	C	10: 79,890,982		probably null	Het
Cnot3	G	A	7: 3,653,561	E252K	probably damaging	Het
Col6a3	T	C	1: 90,779,346	D2622G	unknown	Het
Crybg2	T	C	4: 134,074,291	S612P	probably benign	Het
Gbp3	T	C	3: 142,566,574	V279A	possibly damaging	Het
Gipc2	T	C	3: 152,128,069	T192A	possibly damaging	Het
Gm3285	T	C	10: 77,862,077	V20A		Het
Gm35339	T	C	15: 76,360,864	S1176P		Het
Gorasp2	T	C	2: 70,711,125		probably null	Het
Gpr179	A	G	11: 97,338,489	S947P	probably benign	Het
Klra5	C	A	6: 129,906,723	W147L	possibly damaging	Het
Lrch4	G	A	5: 137,637,789	R368Q	probably damaging	Het
Mamdc4	A	G	2: 25,565,588	V876A	probably benign	Het
Marf1	A	C	16: 14,120,332	D1433E	probably benign	Het
Mcm4	A	T	16: 15,635,311	C171*	probably null	Het
Micall1	C	T	15: 79,126,959	P510S		Het
Morc3	A	G	16: 93,853,087		probably null	Het
Mrpl28	G	T	17: 26,126,292	V229F	possibly damaging	Het
Mrps33	A	T	6: 39,805,430	Y52*	probably null	Het
Mybphl	T	C	3: 108,374,886	I144T	probably benign	Het
Myom1	A	G	17: 71,126,334	M1657V	probably benign	Het
Ogfr	AGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCAAAAGGCCAGGTGGAGCCAGAGGACCCAAAAGGCCAGGTGGGGCCAGAAGACCCAAAAGGCCAGGTGGGGCCAGAGGACCCAAAAGGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGGGGCCAGAG	AGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCAAAAGGCCAGGTGGAGCCAGAGGACCCAAAAGGCCAGGTGGGGCCAGAAGACCCAAAAGGCCAGGTGGGGCCAGAGGACCCAAAAGGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGGGGCCAGAG	2: 180,595,057		probably benign	Het
Olfr492	A	G	7: 108,322,830	I282T	probably benign	Het
Peg10	T	TCCG	6: 4,756,451		probably benign	Het
Plxna1	T	C	6: 89,341,930	K637R	probably benign	Het
Prob1	G	T	18: 35,653,165	L679I	possibly damaging	Het
Sgms2	C	A	3: 131,325,069	C255F	probably damaging	Het
Slc17a9	T	C	2: 180,741,297	C399R	probably benign	Het
Smc4	T	A	3: 69,008,122		probably null	Het
St14	A	G	9: 31,096,549	L578P	probably damaging	Het
Tcaf3	A	T	6: 42,596,972	L102*	probably null	Het
Tex15	A	G	8: 33,582,245	T2607A	possibly damaging	Het
Trav15-2-dv6-2	T	A	14: 53,649,475		probably benign	Het
Trip4	T	C	9: 65,852,952		probably null	Het
Ttf1	A	G	2: 29,065,697	I358V	probably benign	Het
Uroc1	C	A	6: 90,345,371	S292R	possibly damaging	Het
Vmn1r5	T	C	6: 56,985,430	I30T	possibly damaging	Het
Vps33a	A	T	5: 123,564,984	I192N	probably damaging	Het
Vps50	A	G	6: 3,516,724	I69V	probably benign	Het
Xirp1	G	A	9: 120,018,137	T560M	probably damaging	Het
Zfp512	A	T	5: 31,471,015	T266S	possibly damaging	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
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
X0058:Cyp4b1	UTSW	4	115628778	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- CATCTCCTCTCCAAGCAGAG -3'
(R):5'- AGGATATGCTTAGTCCCTTGGG -3'

Sequencing Primer
(F):5'- AGAGACCAGGAGCCCTTC -3'
(R):5'- ATATGCTTAGTCCCTTGGGAACTG -3'

Posted On

2022-06-15