Mutagenetix > Incidental Mutation

Incidental Mutation 'R1186:Cyp4f14'

102197

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

039258-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1186 (G1)

Quality Score

152

Status

Validated

Chromosome

Chromosomal Location

33124044-33136316 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 33135760 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 34 (I34V)

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: I34V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000050478
Gene: ENSMUSG00000024292
AA Change: I34V

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

Predicted Effect

probably benign
Transcript: ENSMUST00000179434
AA Change: I34V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000136139
Gene: ENSMUSG00000024292
AA Change: I34V

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

Meta Mutation Damage Score

0.0619

Coding Region Coverage

1x: 99.5%
3x: 98.5%
10x: 95.7%
20x: 90.1%

Validation Efficiency

97% (69/71)

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: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700020N01Rik	G	A	10: 21,497,551 (GRCm39)	R64Q	probably benign	Het
9530068E07Rik	G	A	11: 52,293,905 (GRCm39)	V49I	probably benign	Het
A2m	T	C	6: 121,638,493 (GRCm39)	S902P	probably benign	Het
Aatf	A	T	11: 84,361,375 (GRCm39)		probably benign	Het
Adamtsl1	A	G	4: 86,306,746 (GRCm39)	T1395A	probably benign	Het
Alpk2	T	C	18: 65,427,412 (GRCm39)		probably null	Het
Ank3	G	T	10: 69,703,290 (GRCm39)	A308S	probably damaging	Het
Arap1	A	G	7: 101,053,476 (GRCm39)		probably benign	Het
Bltp1	T	C	3: 37,050,461 (GRCm39)		probably benign	Het
C4b	T	C	17: 34,955,283 (GRCm39)	D769G	possibly damaging	Het
Cep350	A	G	1: 155,751,122 (GRCm39)	S2017P	probably damaging	Het
Cfap54	T	A	10: 92,711,856 (GRCm39)	I2704F	unknown	Het
Crip2	G	A	12: 113,108,579 (GRCm39)		probably benign	Het
Dcstamp	A	G	15: 39,618,025 (GRCm39)		probably null	Het
Ddx5	T	C	11: 106,674,805 (GRCm39)		probably null	Het
Dnah2	A	T	11: 69,406,526 (GRCm39)	L572Q	probably damaging	Het
Espl1	G	A	15: 102,212,474 (GRCm39)	A527T	probably benign	Het
Fam83d	A	G	2: 158,627,094 (GRCm39)	D261G	probably damaging	Het
Fbxo34	T	C	14: 47,768,043 (GRCm39)	F468L	probably damaging	Het
Gabarapl1	A	T	6: 129,510,368 (GRCm39)		probably benign	Het
Galnt17	G	T	5: 131,140,580 (GRCm39)	T179K	probably damaging	Het
Gm6899	C	T	11: 26,543,685 (GRCm39)		probably benign	Het
Helz2	T	A	2: 180,872,921 (GRCm39)	R2433W	probably damaging	Het
Hivep3	T	C	4: 119,671,920 (GRCm39)		probably benign	Het
Hsh2d	G	A	8: 72,954,304 (GRCm39)	D229N	probably benign	Het
Ica1	A	G	6: 8,672,326 (GRCm39)	L225P	probably damaging	Het
Inpp5f	T	C	7: 128,296,307 (GRCm39)	I195T	probably benign	Het
Isyna1	C	A	8: 71,047,851 (GRCm39)	N115K	probably benign	Het
Ly6g6e	T	C	17: 35,296,984 (GRCm39)	F75S	probably benign	Het
Ly96	A	G	1: 16,771,118 (GRCm39)	D101G	possibly damaging	Het
Mapk9	A	G	11: 49,769,096 (GRCm39)	T243A	probably damaging	Het
Mcc	A	G	18: 44,892,470 (GRCm39)	V48A	probably benign	Het
Mcpt2	C	T	14: 56,281,402 (GRCm39)		probably benign	Het
Med24	T	C	11: 98,608,583 (GRCm39)		probably benign	Het
Mtbp	G	A	15: 55,428,067 (GRCm39)	G162S	probably null	Het
Mtfr2	G	A	10: 20,228,598 (GRCm39)	C48Y	probably benign	Het
Naip2	AGGG	AGG	13: 100,298,545 (GRCm39)		probably null	Het
Naip2	C	T	13: 100,298,489 (GRCm39)	A516T	possibly damaging	Het
Ncoa4-ps	A	C	12: 119,225,206 (GRCm39)		noncoding transcript	Het
Nup107	A	C	10: 117,613,051 (GRCm39)	Y292*	probably null	Het
Nwd2	C	T	5: 63,807,367 (GRCm39)		probably benign	Het
Nxpe4	A	C	9: 48,304,692 (GRCm39)	N260H	probably benign	Het
Ofcc1	C	T	13: 40,362,305 (GRCm39)	G206R	probably benign	Het
Or6z7	T	C	7: 6,483,541 (GRCm39)	I205V	probably benign	Het
Or8b42	T	C	9: 38,342,397 (GRCm39)	V273A	possibly damaging	Het
Or8b47	T	C	9: 38,435,453 (GRCm39)	S142P	probably damaging	Het
Or8k37	A	T	2: 86,469,807 (GRCm39)	L82M	probably damaging	Het
P2rx7	T	C	5: 122,808,514 (GRCm39)	Y299H	probably damaging	Het
Per3	T	A	4: 151,110,595 (GRCm39)	E401V	probably damaging	Het
Rbm34	C	A	8: 127,692,197 (GRCm39)	E182*	probably null	Het
Sdk2	C	T	11: 113,729,472 (GRCm39)		silent	Het
Senp2	T	C	16: 21,830,254 (GRCm39)	S38P	probably damaging	Het
Slc36a2	A	T	11: 55,055,057 (GRCm39)		probably null	Het
Spred1	A	T	2: 117,008,178 (GRCm39)	R361S	possibly damaging	Het
Spry2	A	G	14: 106,130,341 (GRCm39)	C282R	probably damaging	Het
Srp54b	T	C	12: 55,302,313 (GRCm39)		probably benign	Het
Taar8c	G	C	10: 23,977,463 (GRCm39)	Y116*	probably null	Het
Tchh	C	G	3: 93,355,353 (GRCm39)	R1598G	unknown	Het
Tex15	A	G	8: 34,061,661 (GRCm39)	M364V	probably benign	Het
Ttbk1	T	C	17: 46,778,057 (GRCm39)	R662G	probably damaging	Het
Ttc5	G	A	14: 51,004,683 (GRCm39)	Q374*	probably null	Het
Usp46	C	T	5: 74,162,783 (GRCm39)	A312T	probably benign	Het
Vmn1r176	A	T	7: 23,535,051 (GRCm39)	L34Q	probably damaging	Het
Vmn1r178	A	T	7: 23,593,317 (GRCm39)	R122*	probably null	Het
Vmn2r6	T	A	3: 64,472,488 (GRCm39)	M78L	probably benign	Het
Zfp407	A	T	18: 84,227,573 (GRCm39)	I2012N	probably benign	Het
Zfp980	G	A	4: 145,428,653 (GRCm39)	G461S	probably benign	Het
Zfyve26	G	A	12: 79,310,723 (GRCm39)	L161F	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
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
R5810:Cyp4f14	UTSW	17	33,125,072 (GRCm39)	missense	possibly damaging	0.88
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'- CCCTCGAAAGTCTGTCCACTTTGAC -3'
(R):5'- ATTGGCTGGCATAGAATGGCCC -3'

Sequencing Primer
(F):5'- AAAGTCTGTCCACTTTGACACTCC -3'
(R):5'- ATTTTAGGGACCTAGCCTGGAAC -3'

Posted On

2014-01-15