Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01812:Cyp4f15'

278889

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: 0.651) question?

Stock #

IGL01812

Quality Score

Status

Chromosome

Chromosomal Location

32904605-32922329 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 32905131 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Histidine at position 38 (R38H)

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: R38H

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000008801
Gene: ENSMUSG00000073424
AA Change: R38H

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

noncoding transcript
Transcript: ENSMUST00000167789

Predicted Effect

probably benign
Transcript: ENSMUST00000168171
AA Change: R38H

PolyPhen 2 Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000129264
Gene: ENSMUSG00000073424
AA Change: R38H

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: 26 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Alpk3	A	G	7: 80,749,950 (GRCm39)	Y1456C	probably damaging	Het
Apobr	A	G	7: 126,187,094 (GRCm39)	D840G	probably damaging	Het
Arb2a	T	A	13: 77,909,966 (GRCm39)	L27*	probably null	Het
Cd300lf	T	C	11: 115,011,114 (GRCm39)	R175G	probably damaging	Het
Chil5	A	G	3: 105,924,468 (GRCm39)	S426P	possibly damaging	Het
Cngb3	T	G	4: 19,461,728 (GRCm39)	I536M	possibly damaging	Het
Cracdl	T	A	1: 37,664,446 (GRCm39)	D484V	probably benign	Het
Ddb1	A	C	19: 10,590,382 (GRCm39)	E303A	probably damaging	Het
Dis3l	T	A	9: 64,217,519 (GRCm39)	E822V	probably benign	Het
Erich3	T	C	3: 154,419,608 (GRCm39)	V234A	possibly damaging	Het
Evi5l	T	C	8: 4,243,219 (GRCm39)		probably null	Het
Exoc4	T	C	6: 33,734,894 (GRCm39)		probably benign	Het
Ganc	A	G	2: 120,242,007 (GRCm39)	I62V	probably benign	Het
Itpkb	T	C	1: 180,247,851 (GRCm39)	F823S	probably damaging	Het
Izumo2	A	G	7: 44,358,519 (GRCm39)	N14S	possibly damaging	Het
Matcap1	C	T	8: 106,011,289 (GRCm39)		probably benign	Het
Nbas	T	C	12: 13,503,504 (GRCm39)	C1545R	probably damaging	Het
Or4c108	A	T	2: 88,803,868 (GRCm39)	Y122*	probably null	Het
Pds5b	A	T	5: 150,704,154 (GRCm39)	R852S	probably damaging	Het
Polh	G	A	17: 46,483,837 (GRCm39)	A476V	probably benign	Het
Prune2	T	A	19: 16,981,141 (GRCm39)	D99E	possibly damaging	Het
Tdrd6	A	G	17: 43,936,065 (GRCm39)	V1661A	probably benign	Het
Tor1aip2	A	G	1: 155,935,285 (GRCm39)	S7G	probably benign	Het
Vps13a	A	G	19: 16,692,424 (GRCm39)	V830A	probably benign	Het
Vps39	G	A	2: 120,151,271 (GRCm39)		probably benign	Het
Zdhhc17	T	A	10: 110,784,078 (GRCm39)	H466L	possibly damaging	Het

Other mutations in Cyp4f15

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
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

2015-04-16