Mutagenetix > Incidental Mutation

Incidental Mutation 'R5810:Cyp4f14'

447493

Institutional Source

Beutler Lab

Gene Symbol

Cyp4f14

Ensembl Gene

ENSMUSG00000024292

Gene Name

cytochrome P450, family 4, subfamily f, polypeptide 14

Synonyms

1300014O15Rik, leukotriene B4 omega hydroxylase

MMRRC Submission

043395-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5810 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

33124044-33136316 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 33125072 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 450 (I450F)

Ref Sequence

ENSEMBL: ENSMUSP00000136139 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000054174] [ENSMUST00000179434]

AlphaFold

Q9EP75

Predicted Effect

possibly damaging
Transcript: ENSMUST00000054174
AA Change: I450F

PolyPhen 2 Score 0.884 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000050478
Gene: ENSMUSG00000024292
AA Change: I450F

Domain	Start	End	E-Value	Type
Pfam:p450	52	515	2.7e-136	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000179434
AA Change: I450F

PolyPhen 2 Score 0.884 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000136139
Gene: ENSMUSG00000024292
AA Change: I450F

Domain	Start	End	E-Value	Type
Pfam:p450	52	515	2.7e-136	PFAM

Meta Mutation Damage Score

0.1547

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.5%
20x: 96.0%

Validation Efficiency

100% (66/66)

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 likely localizes to the endoplasmic reticulum. When expressed in yeast the enzyme is capable of oxdizing arachidonic acid. It can also catalyze the epoxidation of 22:6n-3 and 22:5n-3 polyunsaturated long-chain fatty acids. This gene is part of a cluster of cytochrome P450 genes on chromosome 19. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2014]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit reduced vitamin E-omega-hydroxylase activity and altered levels of tocopherols and their metabolites. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca1	A	G	4: 53,079,631 (GRCm39)	F866L	probably benign	Het
Abca16	T	A	7: 120,035,155 (GRCm39)	C314S	probably damaging	Het
Actl11	C	T	9: 107,806,420 (GRCm39)	P248S	probably benign	Het
Actr3	A	G	1: 125,344,116 (GRCm39)		probably benign	Het
Baz1a	G	A	12: 54,974,500 (GRCm39)		probably benign	Het
Birc6	A	C	17: 74,977,369 (GRCm39)	N4388T	probably damaging	Het
Bpifa5	G	A	2: 154,005,638 (GRCm39)		probably null	Het
Car13	A	C	3: 14,706,828 (GRCm39)		probably null	Het
Ceacam18	A	T	7: 43,286,382 (GRCm39)	H85L	probably benign	Het
Cnnm3	A	G	1: 36,564,280 (GRCm39)	E704G	probably benign	Het
Ddhd1	G	T	14: 45,840,164 (GRCm39)	T710N	probably damaging	Het
Ddx60	C	T	8: 62,465,422 (GRCm39)	Q1360*	probably null	Het
Dlg5	A	G	14: 24,196,322 (GRCm39)	V1625A	probably damaging	Het
Dst	G	A	1: 34,222,121 (GRCm39)		probably benign	Het
Dyrk2	G	T	10: 118,696,245 (GRCm39)	H338N	probably benign	Het
Epb41l1	A	T	2: 156,341,575 (GRCm39)	I187F	probably damaging	Het
Esd	A	G	14: 74,983,051 (GRCm39)	D221G	probably damaging	Het
Fam53b	T	A	7: 132,361,893 (GRCm39)	N45I	probably damaging	Het
Fchsd1	C	T	18: 38,092,926 (GRCm39)		probably benign	Het
Fryl	A	T	5: 73,248,098 (GRCm39)	D1006E	probably benign	Het
Gli3	T	C	13: 15,818,894 (GRCm39)	V232A	probably damaging	Het
Gm28308	C	A	6: 52,190,196 (GRCm39)		probably benign	Het
Gpatch1	G	A	7: 34,994,796 (GRCm39)	A490V	probably benign	Het
Hoxa7	T	C	6: 52,193,004 (GRCm39)	D128G	probably benign	Het
Igdcc4	A	G	9: 65,035,977 (GRCm39)	T751A	probably damaging	Het
Igsf10	G	A	3: 59,226,492 (GRCm39)	L2394F	probably damaging	Het
Il15ra	A	G	2: 11,738,063 (GRCm39)		probably null	Het
Il17re	C	T	6: 113,446,557 (GRCm39)	A436V	probably damaging	Het
Krtap19-2	T	C	16: 88,671,124 (GRCm39)		probably benign	Het
Larp7-ps	A	T	4: 92,079,820 (GRCm39)		probably null	Het
Lgals12	T	C	19: 7,584,085 (GRCm39)	D4G	probably benign	Het
Liph	A	T	16: 21,786,860 (GRCm39)	L252Q	probably damaging	Het
Mtg1	T	A	7: 139,725,898 (GRCm39)		probably null	Het
Myo18b	A	G	5: 112,982,316 (GRCm39)	L1139P	probably damaging	Het
Ninl	T	C	2: 150,792,088 (GRCm39)	R812G	probably benign	Het
Npm3	A	G	19: 45,736,644 (GRCm39)	I165T	possibly damaging	Het
Or1e22	G	T	11: 73,376,921 (GRCm39)	S243*	probably null	Het
Osbpl9	A	G	4: 108,943,571 (GRCm39)	V231A	probably benign	Het
Pgam2	T	C	11: 5,753,417 (GRCm39)	H91R	possibly damaging	Het
Pkhd1	A	G	1: 20,270,897 (GRCm39)	W3219R	probably benign	Het
Procr	A	G	2: 155,593,327 (GRCm39)	K4E	possibly damaging	Het
Slc22a16	C	T	10: 40,471,314 (GRCm39)	T495I	possibly damaging	Het
Slc22a6	A	G	19: 8,601,222 (GRCm39)	K425E	probably damaging	Het
Slco6c1	A	T	1: 97,003,598 (GRCm39)	C500S	probably damaging	Het
Snrpd2	G	T	7: 18,886,447 (GRCm39)	V77F	probably benign	Het
Sp100	G	A	1: 85,593,006 (GRCm39)	G145D	probably benign	Het
Spg7	G	A	8: 123,821,308 (GRCm39)	E678K	possibly damaging	Het
Ssh1	T	C	5: 114,084,627 (GRCm39)	K538E	probably benign	Het
Sspo	C	T	6: 48,460,832 (GRCm39)	R3356W	probably benign	Het
Stx1a	G	T	5: 135,077,932 (GRCm39)	V255F	probably damaging	Het
Tbc1d13	C	A	2: 30,032,380 (GRCm39)	Q164K	probably benign	Het
Tfpi	AATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGA	AATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGA	2: 84,264,768 (GRCm39)		probably benign	Het
Tpm2	T	C	4: 43,518,968 (GRCm39)		probably benign	Het
Triobp	T	C	15: 78,852,467 (GRCm39)	C874R	probably benign	Het
Tymp	T	A	15: 89,258,534 (GRCm39)	H269L	probably damaging	Het
Vmn1r194	T	A	13: 22,428,597 (GRCm39)	Y71*	probably null	Het
Vmn2r102	T	C	17: 19,897,804 (GRCm39)	V273A	probably benign	Het
Vmn2r2	A	T	3: 64,024,815 (GRCm39)	C589S	probably damaging	Het
Vps13a	T	C	19: 16,643,688 (GRCm39)	T2063A	probably benign	Het
Ywhaz	T	C	15: 36,775,510 (GRCm39)	I217M	probably damaging	Het
Zfp322a	A	C	13: 23,541,579 (GRCm39)	Y54*	probably null	Het
Zswim9	A	T	7: 12,994,662 (GRCm39)	V498D	probably damaging	Het

Other mutations in Cyp4f14

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00090:Cyp4f14	APN	17	33,133,540 (GRCm39)	missense	probably benign	0.06
IGL00858:Cyp4f14	APN	17	33,130,692 (GRCm39)	splice site	probably benign
IGL01673:Cyp4f14	APN	17	33,130,125 (GRCm39)	splice site	probably null
IGL01716:Cyp4f14	APN	17	33,124,470 (GRCm39)	utr 3 prime	probably benign
IGL01768:Cyp4f14	APN	17	33,126,976 (GRCm39)	missense	probably damaging	1.00
IGL02314:Cyp4f14	APN	17	33,125,265 (GRCm39)	missense	probably benign	0.12
IGL02697:Cyp4f14	APN	17	33,124,597 (GRCm39)	missense	probably damaging	0.97
IGL03035:Cyp4f14	APN	17	33,133,608 (GRCm39)	missense	probably benign	0.15
dust	UTSW	17	33,135,853 (GRCm39)	nonsense	probably null
powder	UTSW	17	33,124,483 (GRCm39)	missense	probably benign	0.00
PIT4434001:Cyp4f14	UTSW	17	33,125,104 (GRCm39)	missense	possibly damaging	0.94
R1186:Cyp4f14	UTSW	17	33,135,760 (GRCm39)	missense	probably benign
R1230:Cyp4f14	UTSW	17	33,135,762 (GRCm39)	missense	probably benign	0.00
R1671:Cyp4f14	UTSW	17	33,135,883 (GRCm39)	intron	probably benign
R1672:Cyp4f14	UTSW	17	33,128,210 (GRCm39)	missense	probably benign	0.00
R1696:Cyp4f14	UTSW	17	33,128,145 (GRCm39)	missense	possibly damaging	0.81
R1828:Cyp4f14	UTSW	17	33,130,209 (GRCm39)	missense	probably damaging	0.98
R1934:Cyp4f14	UTSW	17	33,125,289 (GRCm39)	missense	probably damaging	1.00
R2023:Cyp4f14	UTSW	17	33,125,505 (GRCm39)	missense	probably damaging	1.00
R3013:Cyp4f14	UTSW	17	33,128,139 (GRCm39)	missense	probably benign	0.01
R3783:Cyp4f14	UTSW	17	33,135,736 (GRCm39)	missense	probably benign	0.00
R4013:Cyp4f14	UTSW	17	33,135,853 (GRCm39)	nonsense	probably null
R4369:Cyp4f14	UTSW	17	33,128,232 (GRCm39)	missense	probably benign
R4371:Cyp4f14	UTSW	17	33,128,232 (GRCm39)	missense	probably benign
R4683:Cyp4f14	UTSW	17	33,126,985 (GRCm39)	missense	probably null	0.78
R5282:Cyp4f14	UTSW	17	33,126,959 (GRCm39)	missense	probably damaging	0.99
R5332:Cyp4f14	UTSW	17	33,125,065 (GRCm39)	missense	probably benign	0.00
R6244:Cyp4f14	UTSW	17	33,125,291 (GRCm39)	missense	probably benign	0.41
R6622:Cyp4f14	UTSW	17	33,133,619 (GRCm39)	missense	probably benign
R6972:Cyp4f14	UTSW	17	33,124,483 (GRCm39)	missense	probably benign	0.00
R6975:Cyp4f14	UTSW	17	33,133,608 (GRCm39)	missense	probably benign	0.01
R7124:Cyp4f14	UTSW	17	33,133,562 (GRCm39)	missense	probably benign	0.00
R7436:Cyp4f14	UTSW	17	33,128,131 (GRCm39)	missense	probably benign	0.03
R7849:Cyp4f14	UTSW	17	33,128,325 (GRCm39)	missense	probably benign	0.21
R8223:Cyp4f14	UTSW	17	33,130,627 (GRCm39)	critical splice donor site	probably null
R9397:Cyp4f14	UTSW	17	33,130,516 (GRCm39)	missense	probably damaging	0.98

Predicted Primers

PCR Primer
(F):5'- GCATAGAGCAACAGCCCTTCTC -3'
(R):5'- CTGTCTTATCCCCTAGAGTGGG -3'

Sequencing Primer
(F):5'- CTCTACAGACCTTTGCAAATAACCTG -3'
(R):5'- CCCTAGAGTGGGGCAAGAGTTTTAAG -3'

Posted On

2016-12-15