Mutagenetix > Incidental Mutation

Incidental Mutation 'R8369:Cyp4f15'

646322

Institutional Source

Beutler Lab

Gene Symbol

Cyp4f15

Ensembl Gene

ENSMUSG00000073424

Gene Name

cytochrome P450, family 4, subfamily f, polypeptide 15

Synonyms

MMRRC Submission

067739-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.633) question?

Stock #

R8369 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

32904605-32922329 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 32916939 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Arginine at position 285 (S285R)

Ref Sequence

ENSEMBL: ENSMUSP00000129264 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000008801] [ENSMUST00000168171]

AlphaFold

Q99N18

Predicted Effect

probably benign
Transcript: ENSMUST00000008801
AA Change: S285R

PolyPhen 2 Score 0.019 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000008801
Gene: ENSMUSG00000073424
AA Change: S285R

Domain	Start	End	E-Value	Type
low complexity region	16	37	N/A	INTRINSIC
Pfam:p450	57	520	8.4e-137	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000168171
AA Change: S285R

PolyPhen 2 Score 0.032 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000129264
Gene: ENSMUSG00000073424
AA Change: S285R

Domain	Start	End	E-Value	Type
low complexity region	16	37	N/A	INTRINSIC
Pfam:p450	57	527	3.2e-133	PFAM

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.7%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene, CYP4F8, 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 and functions as a 19-hydroxylase of prostaglandins in seminal vesicles. This gene is part of a cluster of cytochrome P450 genes on chromosome 19. Another member of this family, CYP4F3, is approximately 18 kb away. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932438H23Rik	G	A	16: 90,852,657 (GRCm39)	H160Y	probably benign	Het
Abcc4	T	G	14: 118,864,869 (GRCm39)	I386L	probably benign	Het
Arap2	G	A	5: 62,761,669 (GRCm39)	R1686*	probably null	Het
Arfgef3	A	T	10: 18,465,477 (GRCm39)	I2122N	probably benign	Het
Arhgap44	A	T	11: 64,950,680 (GRCm39)	D119E	probably damaging	Het
Atp2b2	C	T	6: 113,790,747 (GRCm39)		probably null	Het
Bltp1	T	A	3: 37,065,752 (GRCm39)	L9M		Het
Brinp1	A	T	4: 68,716,936 (GRCm39)	L304Q	possibly damaging	Het
C2cd3	T	C	7: 100,044,465 (GRCm39)	V349A	probably benign	Het
Ccdc93	T	C	1: 121,405,597 (GRCm39)	Y347H	probably damaging	Het
Ccdc93	T	G	1: 121,422,126 (GRCm39)	I534S	probably benign	Het
Cyb5r4	A	T	9: 86,922,486 (GRCm39)	D165V	probably benign	Het
Cygb	G	A	11: 116,540,109 (GRCm39)	T180I	probably benign	Het
Daxx	G	T	17: 34,131,590 (GRCm39)	C433F	probably damaging	Het
Dcaf6	T	C	1: 165,185,043 (GRCm39)	E483G	probably damaging	Het
Dennd1a	T	A	2: 37,938,766 (GRCm39)	I115F	probably damaging	Het
Dnajc5b	A	G	3: 19,664,796 (GRCm39)	D198G	probably damaging	Het
Ercc1	T	A	7: 19,088,377 (GRCm39)	C243*	probably null	Het
Ermard	T	C	17: 15,273,560 (GRCm39)	F382L	probably damaging	Het
Fer1l4	C	A	2: 155,861,680 (GRCm39)	G1879V	probably benign	Het
Focad	T	A	4: 88,150,905 (GRCm39)	H516Q	unknown	Het
Gcsam	T	A	16: 45,436,369 (GRCm39)	W51R	probably damaging	Het
Ikbkb	A	G	8: 23,181,097 (GRCm39)	V122A	probably benign	Het
Iqgap2	A	T	13: 95,798,111 (GRCm39)	S1065T	probably damaging	Het
Kif16b	G	A	2: 142,553,777 (GRCm39)	A1007V	probably benign	Het
Krt24	A	T	11: 99,173,534 (GRCm39)	C262*	probably null	Het
Lrat	T	C	3: 82,810,865 (GRCm39)	E52G	probably damaging	Het
Misp3	T	A	8: 84,737,627 (GRCm39)	H94L	unknown	Het
N4bp3	A	G	11: 51,535,253 (GRCm39)	L312P	probably damaging	Het
Naxe	T	C	3: 87,963,994 (GRCm39)	T246A	probably benign	Het
Pcolce2	A	T	9: 95,519,847 (GRCm39)	M1L	probably benign	Het
Slc7a6	G	A	8: 106,919,796 (GRCm39)	A270T	probably damaging	Het
Sord	T	A	2: 122,076,976 (GRCm39)	I27K	probably benign	Het
Srek1ip1	A	G	13: 104,970,798 (GRCm39)	E83G	probably benign	Het
Srgap3	A	C	6: 112,699,779 (GRCm39)	N1090K	probably benign	Het
Sult2a6	A	C	7: 13,987,327 (GRCm39)		probably null	Het
Tacc2	T	A	7: 130,223,888 (GRCm39)	I191N	probably damaging	Het
Thoc3	A	G	13: 54,615,708 (GRCm39)	S119P	probably damaging	Het
Tirap	A	G	9: 35,100,052 (GRCm39)	S211P	probably benign	Het
Tle4	T	C	19: 14,429,876 (GRCm39)	T632A	probably benign	Het
Tnfaip8l2	T	A	3: 95,047,486 (GRCm39)	I126F	probably benign	Het
Txnrd1	A	G	10: 82,710,480 (GRCm39)	T114A	probably benign	Het
Vmn2r14	A	G	5: 109,369,342 (GRCm39)	L77P	probably damaging	Het
Wwc1	G	A	11: 35,758,198 (GRCm39)	T716I	probably damaging	Het
Yod1	A	G	1: 130,645,360 (GRCm39)	K47R	probably benign	Het
Zfhx2	A	T	14: 55,304,201 (GRCm39)	M1261K	probably benign	Het
Zfhx3	T	C	8: 109,583,448 (GRCm39)	I1105T	possibly damaging	Het
Zfp9	C	A	6: 118,441,353 (GRCm39)	K436N	probably damaging	Het
Zfp979	T	C	4: 147,697,548 (GRCm39)	H387R	possibly damaging	Het

Other mutations in Cyp4f15

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01812:Cyp4f15	APN	17	32,905,131 (GRCm39)	missense	probably benign	0.01
IGL01813:Cyp4f15	APN	17	32,905,131 (GRCm39)	missense	probably benign	0.01
IGL02394:Cyp4f15	APN	17	32,911,609 (GRCm39)	missense	possibly damaging	0.76
IGL02547:Cyp4f15	APN	17	32,919,229 (GRCm39)	missense	probably benign	0.03
IGL02743:Cyp4f15	APN	17	32,918,926 (GRCm39)	missense	possibly damaging	0.56
IGL03120:Cyp4f15	APN	17	32,909,738 (GRCm39)	missense	probably damaging	0.97
IGL03124:Cyp4f15	APN	17	32,904,786 (GRCm39)	critical splice donor site	probably null
IGL03342:Cyp4f15	APN	17	32,916,910 (GRCm39)	missense	probably damaging	1.00
PIT4472001:Cyp4f15	UTSW	17	32,921,798 (GRCm39)	missense	probably damaging	0.99
R2016:Cyp4f15	UTSW	17	32,921,133 (GRCm39)	missense	probably damaging	1.00
R2892:Cyp4f15	UTSW	17	32,905,182 (GRCm39)	missense	probably benign
R3812:Cyp4f15	UTSW	17	32,905,151 (GRCm39)	missense	probably benign
R4803:Cyp4f15	UTSW	17	32,911,554 (GRCm39)	missense	probably benign	0.00
R5180:Cyp4f15	UTSW	17	32,909,714 (GRCm39)	missense	probably benign	0.21
R5199:Cyp4f15	UTSW	17	32,921,346 (GRCm39)	missense	probably benign
R5787:Cyp4f15	UTSW	17	32,921,782 (GRCm39)	missense	probably damaging	1.00
R6695:Cyp4f15	UTSW	17	32,911,586 (GRCm39)	nonsense	probably null
R8311:Cyp4f15	UTSW	17	32,916,914 (GRCm39)	missense	probably benign	0.06
R8342:Cyp4f15	UTSW	17	32,909,733 (GRCm39)	missense	possibly damaging	0.94
R8488:Cyp4f15	UTSW	17	32,920,948 (GRCm39)	missense	probably benign	0.01
R8503:Cyp4f15	UTSW	17	32,914,338 (GRCm39)	missense	probably damaging	0.99
R8778:Cyp4f15	UTSW	17	32,921,378 (GRCm39)	missense	probably damaging	1.00
R9052:Cyp4f15	UTSW	17	32,911,589 (GRCm39)	missense	probably damaging	1.00
R9179:Cyp4f15	UTSW	17	32,919,185 (GRCm39)	missense	possibly damaging	0.95
R9183:Cyp4f15	UTSW	17	32,919,205 (GRCm39)	missense	probably damaging	1.00
R9311:Cyp4f15	UTSW	17	32,905,139 (GRCm39)	missense	probably benign
Z1088:Cyp4f15	UTSW	17	32,911,664 (GRCm39)	splice site	probably null

Predicted Primers

PCR Primer
(F):5'- TCTGCCATCTTGGAGCTCAG -3'
(R):5'- TCAGCCAGGGTTCTTTAGTG -3'

Sequencing Primer
(F):5'- GTGCCTTAGTGACCAAACGGTAC -3'
(R):5'- CTTAATATGTAGACCAGGCTGGCC -3'

Posted On

2020-09-02