Mutagenetix > Incidental Mutation

Incidental Mutation 'R6244:Cyp4f14'

505490

Institutional Source

Beutler Lab

Gene Symbol

Cyp4f14

Ensembl Gene

ENSMUSG00000024292

Gene Name

cytochrome P450, family 4, subfamily f, polypeptide 14

Synonyms

leukotriene B4 omega hydroxylase, 1300014O15Rik

MMRRC Submission

044435-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6244 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

32905071-32917342 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 32906317 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Leucine at position 429 (H429L)

Ref Sequence

ENSEMBL: ENSMUSP00000136139 (fasta)

Gene Model

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

AlphaFold

Q9EP75

Predicted Effect

probably benign
Transcript: ENSMUST00000054174
AA Change: H429L

PolyPhen 2 Score 0.406 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000050478
Gene: ENSMUSG00000024292
AA Change: H429L

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

Predicted Effect

probably benign
Transcript: ENSMUST00000179434
AA Change: H429L

PolyPhen 2 Score 0.406 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000136139
Gene: ENSMUSG00000024292
AA Change: H429L

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

Meta Mutation Damage Score

0.7990

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.3%
20x: 95.1%

Validation Efficiency

96% (82/85)

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: 84 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932438A13Rik	T	C	3: 36,956,999 (GRCm38)	V1782A	probably benign	Het
6430550D23Rik	T	C	2: 156,003,230 (GRCm38)	H113R	possibly damaging	Het
Adgrf3	A	T	5: 30,197,533 (GRCm38)	M499K	probably benign	Het
Adgrv1	G	A	13: 81,106,931 (GRCm38)	T211I	probably damaging	Het
Adss	C	T	1: 177,776,829 (GRCm38)	E153K	probably benign	Het
Ago4	C	A	4: 126,511,487 (GRCm38)	G431V	possibly damaging	Het
Araf	G	T	X: 20,860,100 (GRCm38)	R601L	probably damaging	Homo
Atp2b4	T	A	1: 133,726,561 (GRCm38)	I769F	probably damaging	Het
Atp9a	T	C	2: 168,689,352 (GRCm38)		probably null	Het
Brap	C	A	5: 121,665,309 (GRCm38)	D173E	probably benign	Het
Brca2	G	T	5: 150,566,978 (GRCm38)	R3035L	probably benign	Het
Ccdc8	C	A	7: 16,996,251 (GRCm38)	P555Q	probably benign	Het
Ccser2	A	G	14: 36,940,718 (GRCm38)	S170P	probably benign	Het
Celsr2	T	C	3: 108,393,128 (GRCm38)	H860R	probably damaging	Het
Cenpc1	C	A	5: 86,046,385 (GRCm38)	R174M	probably damaging	Het
Cfap57	T	G	4: 118,579,410 (GRCm38)	I930L	probably damaging	Het
Cx3cr1	C	T	9: 120,051,694 (GRCm38)	R214H	probably damaging	Het
D5Ertd579e	A	G	5: 36,615,276 (GRCm38)	F592L	probably damaging	Het
Ddb1	A	G	19: 10,625,923 (GRCm38)	E865G	probably damaging	Het
Ddx50	A	T	10: 62,621,566 (GRCm38)		probably null	Het
Dpp6	A	G	5: 27,049,628 (GRCm38)	T14A	probably damaging	Het
Echs1	C	A	7: 140,113,069 (GRCm38)	Q51H	possibly damaging	Het
Ecm2	A	T	13: 49,530,307 (GRCm38)	D587V	probably damaging	Het
Ect2l	A	T	10: 18,140,397 (GRCm38)	Y666N	possibly damaging	Het
Epha2	G	A	4: 141,316,912 (GRCm38)	G342S	probably benign	Het
Fbxo33	C	A	12: 59,206,079 (GRCm38)	K211N	probably benign	Het
Fchsd2	A	G	7: 101,259,776 (GRCm38)		probably null	Het
Fen1	A	G	19: 10,200,687 (GRCm38)	V131A	probably damaging	Het
Fetub	C	T	16: 22,932,331 (GRCm38)	R143C	probably damaging	Het
Flnb	A	G	14: 7,892,092 (GRCm38)	E587G	probably damaging	Het
Foxd3	A	G	4: 99,657,240 (GRCm38)	T206A	possibly damaging	Het
Fut1	A	G	7: 45,619,306 (GRCm38)	E228G	possibly damaging	Het
Galnt13	T	C	2: 54,933,548 (GRCm38)	F379L	probably damaging	Het
Gcnt2	A	C	13: 40,861,241 (GRCm38)	E296A	probably damaging	Het
Gm7145	T	A	1: 117,986,140 (GRCm38)	C251S	probably damaging	Het
Gpam	G	A	19: 55,070,985 (GRCm38)	P810L	probably damaging	Het
Il1rl2	T	A	1: 40,327,566 (GRCm38)	L87M	possibly damaging	Het
Itgae	A	G	11: 73,145,601 (GRCm38)	S1122G	probably damaging	Het
Kcnh7	T	A	2: 63,182,226 (GRCm38)	D46V	probably damaging	Het
Kcnn3	T	G	3: 89,645,523 (GRCm38)	Y511*	probably null	Het
Kdm3b	T	A	18: 34,793,005 (GRCm38)	I66N	probably damaging	Het
Klk1b27	A	T	7: 44,054,550 (GRCm38)	H39L	probably benign	Het
Kmo	C	T	1: 175,659,695 (GRCm38)	T404I	possibly damaging	Het
Krt222	C	T	11: 99,235,058 (GRCm38)		probably null	Het
Magi3	G	C	3: 104,015,697 (GRCm38)	H1235D	probably benign	Het
Mapk8ip1	C	A	2: 92,389,244 (GRCm38)	G81C	probably damaging	Het
Med15	G	A	16: 17,652,745 (GRCm38)	Q583*	probably null	Het
Mroh2a	T	C	1: 88,256,754 (GRCm38)	V1453A	probably benign	Het
Myh13	A	G	11: 67,362,501 (GRCm38)	M1488V	probably benign	Het
Naip2	A	T	13: 100,152,137 (GRCm38)	F1193L	probably damaging	Het
Nop58	T	A	1: 59,702,855 (GRCm38)	M181K	probably damaging	Het
Npepps	A	T	11: 97,213,790 (GRCm38)	V796D	probably damaging	Het
Nr1d1	A	G	11: 98,770,537 (GRCm38)	F301S	probably damaging	Het
Nynrin	G	A	14: 55,868,028 (GRCm38)	V832I	probably damaging	Het
Olfr1046	T	A	2: 86,217,222 (GRCm38)	T163S	possibly damaging	Het
Olfr1508	T	A	14: 52,463,895 (GRCm38)	Y38F	probably damaging	Het
Olfr320	A	T	11: 58,684,004 (GRCm38)	T44S	possibly damaging	Het
Olfr342	T	A	2: 36,528,341 (GRCm38)	C310S	probably benign	Het
Olfr61	C	A	7: 140,638,433 (GRCm38)	S244Y	probably damaging	Het
Phrf1	T	A	7: 141,237,673 (GRCm38)	C132S	probably damaging	Het
Plekhn1	T	C	4: 156,230,558 (GRCm38)		probably null	Het
Polr2a	G	A	11: 69,744,226 (GRCm38)	T569M	probably damaging	Het
Prr29	A	G	11: 106,376,632 (GRCm38)		probably null	Het
Rsf1	CG	CGACGGCGGAG	7: 97,579,908 (GRCm38)		probably benign	Homo
Sc5d	T	C	9: 42,255,421 (GRCm38)	E274G	probably benign	Het
Serpina1d	A	T	12: 103,764,828 (GRCm38)		probably null	Het
Serpinb11	T	A	1: 107,372,242 (GRCm38)	I106N	probably damaging	Het
Setd2	G	A	9: 110,548,665 (GRCm38)	R516K	probably damaging	Het
Sirt2	G	T	7: 28,787,797 (GRCm38)	C291F	probably damaging	Het
Stac3	T	C	10: 127,508,175 (GRCm38)	V314A	probably damaging	Het
Stat6	C	T	10: 127,657,712 (GRCm38)		probably null	Het
Strn3	A	G	12: 51,610,107 (GRCm38)	V712A	probably damaging	Het
Tmc5	G	T	7: 118,634,214 (GRCm38)	G84C	possibly damaging	Het
Tnik	C	A	3: 28,650,179 (GRCm38)	L996I	probably damaging	Het
Trim30d	G	T	7: 104,487,610 (GRCm38)	T129K	probably damaging	Het
Triml1	G	T	8: 43,138,756 (GRCm38)	Y188*	probably null	Het
Trpc7	A	G	13: 56,773,892 (GRCm38)	Y760H	probably damaging	Het
Uaca	G	A	9: 60,870,044 (GRCm38)	R571Q	probably damaging	Het
Ubash3a	A	T	17: 31,239,272 (GRCm38)	Q575L	possibly damaging	Het
Usp49	T	A	17: 47,672,902 (GRCm38)	C61*	probably null	Het
Vmn2r18	A	T	5: 151,584,651 (GRCm38)	V336E	probably damaging	Het
Vwa8	T	C	14: 79,086,662 (GRCm38)	V1135A	probably benign	Het
Zcchc4	T	C	5: 52,783,161 (GRCm38)	V24A	probably benign	Het
Zfp354c	A	G	11: 50,814,971 (GRCm38)	Y426H	probably benign	Het

Other mutations in Cyp4f14

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00090:Cyp4f14	APN	17	32,914,566 (GRCm38)	missense	probably benign	0.06
IGL00858:Cyp4f14	APN	17	32,911,718 (GRCm38)	splice site	probably benign
IGL01673:Cyp4f14	APN	17	32,911,151 (GRCm38)	splice site	probably null
IGL01716:Cyp4f14	APN	17	32,905,496 (GRCm38)	utr 3 prime	probably benign
IGL01768:Cyp4f14	APN	17	32,908,002 (GRCm38)	missense	probably damaging	1.00
IGL02314:Cyp4f14	APN	17	32,906,291 (GRCm38)	missense	probably benign	0.12
IGL02697:Cyp4f14	APN	17	32,905,623 (GRCm38)	missense	probably damaging	0.97
IGL03035:Cyp4f14	APN	17	32,914,634 (GRCm38)	missense	probably benign	0.15
dust	UTSW	17	32,916,879 (GRCm38)	nonsense	probably null
powder	UTSW	17	32,905,509 (GRCm38)	missense	probably benign	0.00
PIT4434001:Cyp4f14	UTSW	17	32,906,130 (GRCm38)	missense	possibly damaging	0.94
R1186:Cyp4f14	UTSW	17	32,916,786 (GRCm38)	missense	probably benign
R1230:Cyp4f14	UTSW	17	32,916,788 (GRCm38)	missense	probably benign	0.00
R1671:Cyp4f14	UTSW	17	32,916,909 (GRCm38)	intron	probably benign
R1672:Cyp4f14	UTSW	17	32,909,236 (GRCm38)	missense	probably benign	0.00
R1696:Cyp4f14	UTSW	17	32,909,171 (GRCm38)	missense	possibly damaging	0.81
R1828:Cyp4f14	UTSW	17	32,911,235 (GRCm38)	missense	probably damaging	0.98
R1934:Cyp4f14	UTSW	17	32,906,315 (GRCm38)	missense	probably damaging	1.00
R2023:Cyp4f14	UTSW	17	32,906,531 (GRCm38)	missense	probably damaging	1.00
R3013:Cyp4f14	UTSW	17	32,909,165 (GRCm38)	missense	probably benign	0.01
R3783:Cyp4f14	UTSW	17	32,916,762 (GRCm38)	missense	probably benign	0.00
R4013:Cyp4f14	UTSW	17	32,916,879 (GRCm38)	nonsense	probably null
R4369:Cyp4f14	UTSW	17	32,909,258 (GRCm38)	missense	probably benign
R4371:Cyp4f14	UTSW	17	32,909,258 (GRCm38)	missense	probably benign
R4683:Cyp4f14	UTSW	17	32,908,011 (GRCm38)	missense	probably null	0.78
R5282:Cyp4f14	UTSW	17	32,907,985 (GRCm38)	missense	probably damaging	0.99
R5332:Cyp4f14	UTSW	17	32,906,091 (GRCm38)	missense	probably benign	0.00
R5810:Cyp4f14	UTSW	17	32,906,098 (GRCm38)	missense	possibly damaging	0.88
R6622:Cyp4f14	UTSW	17	32,914,645 (GRCm38)	missense	probably benign
R6972:Cyp4f14	UTSW	17	32,905,509 (GRCm38)	missense	probably benign	0.00
R6975:Cyp4f14	UTSW	17	32,914,634 (GRCm38)	missense	probably benign	0.01
R7124:Cyp4f14	UTSW	17	32,914,588 (GRCm38)	missense	probably benign	0.00
R7436:Cyp4f14	UTSW	17	32,909,157 (GRCm38)	missense	probably benign	0.03
R7849:Cyp4f14	UTSW	17	32,909,351 (GRCm38)	missense	probably benign	0.21
R8223:Cyp4f14	UTSW	17	32,911,653 (GRCm38)	critical splice donor site	probably null
R9397:Cyp4f14	UTSW	17	32,911,542 (GRCm38)	missense	probably damaging	0.98

Predicted Primers

PCR Primer
(F):5'- GAGTCAAGGTGGATGAGTGACTTC -3'
(R):5'- CCTGACCATGTGCATCAAGG -3'

Sequencing Primer
(F):5'- TGGATGAGTGACTTCCCAGTACAAC -3'
(R):5'- CCATGTGCATCAAGGAGAGTCTG -3'

Posted On

2018-02-28