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

115481922-115504920 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 115493581 bp (GRCm39)

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
Abca17	G	A	17: 24,499,452 (GRCm39)	T1359M	probably benign	Het
Acacb	T	A	5: 114,384,085 (GRCm39)	C2205S	possibly damaging	Het
Akap3	A	G	6: 126,841,591 (GRCm39)	E70G	probably benign	Het
Aldh1a3	C	A	7: 66,068,992 (GRCm39)		probably null	Het
Asb4	A	G	6: 5,429,817 (GRCm39)	I352M	probably benign	Het
Bach1	C	G	16: 87,516,603 (GRCm39)	S381R	probably benign	Het
BC034090	A	G	1: 155,101,961 (GRCm39)	L101P	probably benign	Het
Bms1	A	T	6: 118,382,217 (GRCm39)	D440E	probably benign	Het
Bpifb6	A	T	2: 153,747,914 (GRCm39)	D191V	probably benign	Het
Cfap298	A	T	16: 90,726,832 (GRCm39)	V116E	probably benign	Het
Cfd	T	C	10: 79,726,816 (GRCm39)		probably null	Het
Cnot3	G	A	7: 3,656,560 (GRCm39)	E252K	probably damaging	Het
Col6a3	T	C	1: 90,707,068 (GRCm39)	D2622G	unknown	Het
Crybg2	T	C	4: 133,801,602 (GRCm39)	S612P	probably benign	Het
Gbp3	T	C	3: 142,272,335 (GRCm39)	V279A	possibly damaging	Het
Gipc2	T	C	3: 151,833,706 (GRCm39)	T192A	possibly damaging	Het
Gm3285	T	C	10: 77,697,911 (GRCm39)	V20A		Het
Gorasp2	T	C	2: 70,541,469 (GRCm39)		probably null	Het
Gpr179	A	G	11: 97,229,315 (GRCm39)	S947P	probably benign	Het
Klra5	C	A	6: 129,883,686 (GRCm39)	W147L	possibly damaging	Het
Lrch4	G	A	5: 137,636,051 (GRCm39)	R368Q	probably damaging	Het
Mamdc4	A	G	2: 25,455,600 (GRCm39)	V876A	probably benign	Het
Marf1	A	C	16: 13,938,196 (GRCm39)	D1433E	probably benign	Het
Mcm4	A	T	16: 15,453,175 (GRCm39)	C171*	probably null	Het
Micall1	C	T	15: 79,011,159 (GRCm39)	P510S		Het
Morc3	A	G	16: 93,649,975 (GRCm39)		probably null	Het
Mrpl28	G	T	17: 26,345,266 (GRCm39)	V229F	possibly damaging	Het
Mrps33	A	T	6: 39,782,364 (GRCm39)	Y52*	probably null	Het
Mybphl	T	C	3: 108,282,202 (GRCm39)	I144T	probably benign	Het
Myom1	A	G	17: 71,433,329 (GRCm39)	M1657V	probably benign	Het
Ogfr	AGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCAAAAGGCCAGGTGGAGCCAGAGGACCCAAAAGGCCAGGTGGGGCCAGAAGACCCAAAAGGCCAGGTGGGGCCAGAGGACCCAAAAGGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGGGGCCAGAG	AGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCAAAAGGCCAGGTGGAGCCAGAGGACCCAAAAGGCCAGGTGGGGCCAGAAGACCCAAAAGGCCAGGTGGGGCCAGAGGACCCAAAAGGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGGGGCCAGAG	2: 180,236,850 (GRCm39)		probably benign	Het
Or5p67	A	G	7: 107,922,037 (GRCm39)	I282T	probably benign	Het
Peg10	T	TCCG	6: 4,756,451 (GRCm39)		probably benign	Het
Plxna1	T	C	6: 89,318,912 (GRCm39)	K637R	probably benign	Het
Prob1	G	T	18: 35,786,218 (GRCm39)	L679I	possibly damaging	Het
Sgms2	C	A	3: 131,118,718 (GRCm39)	C255F	probably damaging	Het
Slc17a9	T	C	2: 180,383,090 (GRCm39)	C399R	probably benign	Het
Smc4	T	A	3: 68,915,455 (GRCm39)		probably null	Het
St14	A	G	9: 31,007,845 (GRCm39)	L578P	probably damaging	Het
Tcaf3	A	T	6: 42,573,906 (GRCm39)	L102*	probably null	Het
Tex15	A	G	8: 34,072,273 (GRCm39)	T2607A	possibly damaging	Het
Trav15-2-dv6-2	T	A	14: 53,886,932 (GRCm39)		probably benign	Het
Trip4	T	C	9: 65,760,234 (GRCm39)		probably null	Het
Ttf1	A	G	2: 28,955,709 (GRCm39)	I358V	probably benign	Het
Uroc1	C	A	6: 90,322,353 (GRCm39)	S292R	possibly damaging	Het
Vmn1r5	T	C	6: 56,962,415 (GRCm39)	I30T	possibly damaging	Het
Vps33a	A	T	5: 123,703,047 (GRCm39)	I192N	probably damaging	Het
Vps50	A	G	6: 3,516,724 (GRCm39)	I69V	probably benign	Het
Wdr97	T	C	15: 76,245,064 (GRCm39)	S1176P		Het
Xirp1	G	A	9: 119,847,203 (GRCm39)	T560M	probably damaging	Het
Zfp512	A	T	5: 31,628,359 (GRCm39)	T266S	possibly 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
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
X0058:Cyp4b1	UTSW	4	115,485,975 (GRCm39)	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