Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03342:Cyp4f15'

417267

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Cyp4f15

Ensembl Gene

ENSMUSG00000073424

Gene Name

cytochrome P450, family 4, subfamily f, polypeptide 15

Synonyms

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.633) question?

Stock #

IGL03342

Quality Score

Status

Chromosome

Chromosomal Location

32904605-32922329 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 32916910 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 276 (I276F)

Ref Sequence

ENSEMBL: ENSMUSP00000129264 (fasta)

Gene Model

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

AlphaFold

Q99N18

Predicted Effect

probably damaging
Transcript: ENSMUST00000008801
AA Change: I276F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000008801
Gene: ENSMUSG00000073424
AA Change: I276F

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000163907

Predicted Effect

probably damaging
Transcript: ENSMUST00000168171
AA Change: I276F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000129264
Gene: ENSMUSG00000073424
AA Change: I276F

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

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca5	G	A	11: 110,178,517 (GRCm39)	T1152M	possibly damaging	Het
Abcg2	G	T	6: 58,642,120 (GRCm39)	R136I	probably damaging	Het
Acap2	A	G	16: 30,924,310 (GRCm39)	V641A	probably damaging	Het
Afg3l2	A	T	18: 67,540,390 (GRCm39)	D706E	probably benign	Het
Bbs1	A	T	19: 4,947,621 (GRCm39)	L311Q	probably damaging	Het
Cacna1e	A	G	1: 154,342,690 (GRCm39)		probably null	Het
Car2	A	T	3: 14,960,629 (GRCm39)	D129V	probably benign	Het
Catsper2	T	C	2: 121,237,217 (GRCm39)	I228V	probably damaging	Het
Cdhr3	C	A	12: 33,101,054 (GRCm39)	R452M	probably benign	Het
Chrm1	A	T	19: 8,656,672 (GRCm39)	Q459L	probably benign	Het
Cnbd1	C	T	4: 19,098,264 (GRCm39)		probably benign	Het
Coa7	A	G	4: 108,189,426 (GRCm39)	D42G	probably damaging	Het
Ctsz	T	C	2: 174,270,933 (GRCm39)	Y187C	possibly damaging	Het
Cxcr6	C	T	9: 123,639,472 (GRCm39)	Q165*	probably null	Het
Cyp3a11	G	A	5: 145,791,927 (GRCm39)	P489S	probably damaging	Het
Dsg1b	T	A	18: 20,542,517 (GRCm39)	M1008K	probably benign	Het
Dsg4	T	A	18: 20,584,880 (GRCm39)	I198N	probably damaging	Het
Dtymk	C	A	1: 93,722,541 (GRCm39)	E87D	probably benign	Het
Dysf	T	A	6: 84,167,854 (GRCm39)	D1749E	probably benign	Het
Dzip3	G	T	16: 48,749,986 (GRCm39)	Q1050K	probably damaging	Het
Echs1	C	T	7: 139,690,026 (GRCm39)		probably benign	Het
Enc1	T	A	13: 97,382,978 (GRCm39)	I496N	possibly damaging	Het
Epc2	A	T	2: 49,426,658 (GRCm39)	Y139F	probably benign	Het
Exo1	A	T	1: 175,719,693 (GRCm39)	N246I	probably benign	Het
Flg2	A	G	3: 93,108,542 (GRCm39)	K190R	probably damaging	Het
Gm5424	A	T	10: 61,907,971 (GRCm39)		noncoding transcript	Het
Gpbp1l1	A	C	4: 116,431,740 (GRCm39)	T133P	probably benign	Het
Gpr155	A	G	2: 73,180,022 (GRCm39)	F146S	probably damaging	Het
Grm1	T	A	10: 10,955,715 (GRCm39)	I190L	probably benign	Het
Hif3a	C	T	7: 16,775,047 (GRCm39)	R515H	possibly damaging	Het
Itprid2	G	A	2: 79,490,796 (GRCm39)	M971I	probably damaging	Het
Kdm5b	G	A	1: 134,530,314 (GRCm39)	D442N	probably benign	Het
Manba	A	T	3: 135,223,748 (GRCm39)	I212F	possibly damaging	Het
Map3k13	A	G	16: 21,710,981 (GRCm39)	E88G	possibly damaging	Het
Mapk7	A	G	11: 61,382,216 (GRCm39)	L163P	probably damaging	Het
Med1	A	T	11: 98,080,006 (GRCm39)		probably null	Het
Mtrf1	T	A	14: 79,653,312 (GRCm39)		probably null	Het
Mtrf1	A	G	14: 79,653,420 (GRCm39)	D365G	possibly damaging	Het
Mtrf1	C	T	14: 79,653,311 (GRCm39)		probably benign	Het
Myadm	C	T	7: 3,345,403 (GRCm39)	T55I	possibly damaging	Het
Nlgn1	A	T	3: 26,187,411 (GRCm39)	I158N	probably damaging	Het
Nlrc4	A	G	17: 74,752,313 (GRCm39)	L690P	probably damaging	Het
Nlrp1a	A	T	11: 71,013,617 (GRCm39)	D544E	probably benign	Het
Nlrp2	A	T	7: 5,320,482 (GRCm39)	L20Q	probably damaging	Het
Or1e30	T	A	11: 73,678,309 (GRCm39)	S182T	probably benign	Het
Or8k21	A	T	2: 86,145,579 (GRCm39)	I17N	possibly damaging	Het
Or9i16	A	G	19: 13,864,801 (GRCm39)	Y258H	probably damaging	Het
Padi3	G	A	4: 140,537,909 (GRCm39)	Q4*	probably null	Het
Pfkl	A	T	10: 77,841,309 (GRCm39)	I13K	possibly damaging	Het
Pinx1	A	G	14: 64,157,018 (GRCm39)	D315G	probably benign	Het
Prickle3	A	G	X: 7,529,735 (GRCm39)	D47G	probably benign	Het
Psmd10	A	T	X: 139,857,403 (GRCm39)	V5E	probably damaging	Het
Rasgrf2	C	A	13: 92,136,098 (GRCm39)	V605F	probably damaging	Het
Smarca1	G	T	X: 46,981,146 (GRCm39)	A84D	probably damaging	Het
Sp2	A	G	11: 96,852,588 (GRCm39)	V112A	probably damaging	Het
Srgap3	G	A	6: 112,752,648 (GRCm39)	R279C	probably damaging	Het
Trav21-dv12	T	C	14: 54,113,501 (GRCm39)	L10P	unknown	Het
Vmn1r236	A	T	17: 21,507,236 (GRCm39)	H118L	probably benign	Het
Vmn2r120	A	G	17: 57,816,372 (GRCm39)	M661T	probably benign	Het
Vmn2r17	A	T	5: 109,575,782 (GRCm39)	I218F	probably damaging	Het
Vmn2r41	G	T	7: 8,141,682 (GRCm39)	A594D	probably damaging	Het
Zc2hc1a	A	G	3: 7,589,283 (GRCm39)	E103G	possibly damaging	Het
Zfp62	G	T	11: 49,106,298 (GRCm39)	G130*	probably null	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
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
R8369:Cyp4f15	UTSW	17	32,916,939 (GRCm39)	missense	probably benign	0.03
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

Posted On

2016-08-02