Mutagenetix > Incidental Mutation

Incidental Mutation 'R4704:Cyp4f13'

356331

Institutional Source

Beutler Lab

Gene Symbol

Cyp4f13

Ensembl Gene

ENSMUSG00000024055

Gene Name

cytochrome P450, family 4, subfamily f, polypeptide 13

Synonyms

0610030I10Rik, leukotriene B4 omega hydroxylase, P450 CYP4F13

MMRRC Submission

041952-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.088) question?

Stock #

R4704 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

33143662-33166376 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 33144709 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Arginine at position 401 (C401R)

Ref Sequence

ENSEMBL: ENSMUSP00000074733 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000075253] [ENSMUST00000137222] [ENSMUST00000139353]

AlphaFold

Q99N19

Predicted Effect

probably damaging
Transcript: ENSMUST00000075253
AA Change: C401R

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

SMART Domains

Protein: ENSMUSP00000074733
Gene: ENSMUSG00000024055
AA Change: C401R

Domain	Start	End	E-Value	Type
transmembrane domain	20	42	N/A	INTRINSIC
Pfam:p450	52	514	1.9e-130	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000123653

Predicted Effect

probably benign
Transcript: ENSMUST00000137222

SMART Domains

Protein: ENSMUSP00000123495
Gene: ENSMUSG00000024055

Domain	Start	End	E-Value	Type
transmembrane domain	20	42	N/A	INTRINSIC
SCOP:d1e9xa_	48	115	1e-4	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000139353
AA Change: C292R

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000123282
Gene: ENSMUSG00000024055
AA Change: C292R

Domain	Start	End	E-Value	Type
transmembrane domain	20	42	N/A	INTRINSIC
Pfam:p450	60	405	7.8e-108	PFAM

Meta Mutation Damage Score

0.8050

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.8%
20x: 94.0%

Validation Efficiency

97% (89/92)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene, CYP4F3, 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. The enzyme starts the process of inactivating and degrading leukotriene B4, a potent mediator of inflammation. This gene is part of a cluster of cytochrome P450 genes on chromosome 19. Another member of this family, CYP4F8, is approximately 18 kb away. Three transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Nov 2010]

Allele List at MGI

Other mutations in this stock

Total: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310057M21Rik	A	T	7: 130,959,259 (GRCm39)	M147K	probably damaging	Het
Abca13	A	G	11: 9,226,990 (GRCm39)	D582G	possibly damaging	Het
Abca2	T	C	2: 25,333,424 (GRCm39)	L1683P	probably damaging	Het
Adam39	A	G	8: 41,278,833 (GRCm39)	H408R	probably benign	Het
Adcy4	A	G	14: 56,012,482 (GRCm39)	S554P	possibly damaging	Het
Ahnak	T	C	19: 8,990,545 (GRCm39)	I3943T	probably damaging	Het
Ahnak	T	G	19: 8,989,622 (GRCm39)		probably benign	Het
Alkal2	T	A	12: 30,937,195 (GRCm39)	S109R	probably damaging	Het
Apobec4	A	G	1: 152,632,001 (GRCm39)	T10A	probably benign	Het
Arhgef40	A	G	14: 52,239,767 (GRCm39)	N1327S	probably damaging	Het
Arpc3	A	G	5: 122,538,471 (GRCm39)	M1V	probably null	Het
Ascc1	A	G	10: 59,885,624 (GRCm39)	Y225C	probably damaging	Het
Ascc3	A	G	10: 50,535,110 (GRCm39)	I668V	probably benign	Het
Bdnf	T	A	2: 109,554,037 (GRCm39)	M137K	possibly damaging	Het
Cacna1b	T	C	2: 24,544,475 (GRCm39)	D1231G	probably damaging	Het
Cds2	T	A	2: 132,142,522 (GRCm39)	Y239*	probably null	Het
Cpped1	G	A	16: 11,703,493 (GRCm39)		probably benign	Het
Ctu2	G	A	8: 123,206,042 (GRCm39)	R261Q	probably damaging	Het
Cux1	A	G	5: 136,278,055 (GRCm39)	V645A	probably benign	Het
Dpt	T	G	1: 164,646,518 (GRCm39)	Y162*	probably null	Het
Ednra	A	G	8: 78,394,592 (GRCm39)		probably benign	Het
Eepd1	A	G	9: 25,394,122 (GRCm39)	T129A	probably benign	Het
Eif2s1	A	G	12: 78,923,944 (GRCm39)	T134A	probably benign	Het
Eloa	A	G	4: 135,738,525 (GRCm39)	V145A	probably benign	Het
Enam	T	A	5: 88,651,650 (GRCm39)	L1053*	probably null	Het
Eng	T	C	2: 32,568,924 (GRCm39)	S484P	probably benign	Het
Eogt	A	T	6: 97,090,813 (GRCm39)	V442E	probably damaging	Het
Fam185a	C	T	5: 21,685,471 (GRCm39)		probably benign	Het
Gm4922	C	T	10: 18,660,567 (GRCm39)	V52I	probably benign	Het
Gnao1	A	G	8: 94,538,004 (GRCm39)	E14G	probably benign	Het
Gpr75	C	A	11: 30,841,110 (GRCm39)	A5D	probably benign	Het
Hbq1b	T	A	11: 32,237,448 (GRCm39)		probably benign	Het
Hdac7	G	A	15: 97,694,097 (GRCm39)	T724M	probably damaging	Het
Ifi204	C	A	1: 173,587,927 (GRCm39)		probably benign	Het
Ift88	A	G	14: 57,718,307 (GRCm39)		probably benign	Het
Irak4	A	G	15: 94,464,781 (GRCm39)		probably null	Het
Kalrn	T	C	16: 34,024,327 (GRCm39)	D610G	probably damaging	Het
Kifc2	T	C	15: 76,547,177 (GRCm39)		probably null	Het
Kmt2c	G	A	5: 25,519,025 (GRCm39)	Q2362*	probably null	Het
Kntc1	G	A	5: 123,949,496 (GRCm39)	E1956K	probably damaging	Het
Lama3	T	C	18: 12,686,280 (GRCm39)	V2781A	probably benign	Het
Lipt2	A	G	7: 99,809,534 (GRCm39)	E207G	probably damaging	Het
Mag	A	T	7: 30,608,598 (GRCm39)	L172Q	probably damaging	Het
Map1b	A	T	13: 99,566,983 (GRCm39)	C1913S	unknown	Het
Mical3	A	G	6: 120,935,649 (GRCm39)	S1626P	probably benign	Het
Mslnl	G	T	17: 25,957,952 (GRCm39)	W65L	possibly damaging	Het
Muc20	G	T	16: 32,599,448 (GRCm39)	A3332S	possibly damaging	Het
Nadk	C	A	4: 155,669,684 (GRCm39)	P157T	probably benign	Het
Nkx2-3	G	A	19: 43,601,123 (GRCm39)	E62K	probably damaging	Het
Or6c2	T	C	10: 129,362,171 (GRCm39)	L25P	possibly damaging	Het
Pclo	A	G	5: 14,726,494 (GRCm39)		probably benign	Het
Pcna-ps2	T	A	19: 9,260,786 (GRCm39)	V15E	possibly damaging	Het
Plekhg3	G	T	12: 76,625,012 (GRCm39)	G1285W	probably damaging	Het
Pramel29	A	T	4: 143,935,162 (GRCm39)	I193N	probably damaging	Het
Procr	A	G	2: 155,596,258 (GRCm39)	S142G	probably damaging	Het
Ptpn3	A	T	4: 57,270,119 (GRCm39)	N14K	possibly damaging	Het
Rin1	C	A	19: 5,105,018 (GRCm39)	L693I	probably damaging	Het
Ripk4	C	A	16: 97,547,204 (GRCm39)	E290*	probably null	Het
Rnf213	A	G	11: 119,331,175 (GRCm39)	Y2128C	probably damaging	Het
Saal1	T	C	7: 46,349,164 (GRCm39)		probably benign	Het
Selplg	T	C	5: 113,957,094 (GRCm39)	D404G	probably benign	Het
Serpinf1	C	A	11: 75,301,867 (GRCm39)	A263S	probably damaging	Het
Sgo2b	A	T	8: 64,380,824 (GRCm39)	D669E	probably damaging	Het
Slc30a9	T	C	5: 67,499,616 (GRCm39)		probably benign	Het
Sri	A	T	5: 8,112,430 (GRCm39)		probably null	Het
Sspo	G	A	6: 48,475,638 (GRCm39)	C4918Y	probably damaging	Het
Szt2	A	G	4: 118,251,026 (GRCm39)	Y361H	probably damaging	Het
Tbc1d12	T	A	19: 38,889,781 (GRCm39)	W404R	probably damaging	Het
Tcf20	T	C	15: 82,735,928 (GRCm39)	E1841G	possibly damaging	Het
Tep1	T	C	14: 51,074,530 (GRCm39)	T1832A	probably benign	Het
Tmem132e	G	A	11: 82,334,357 (GRCm39)	A623T	probably damaging	Het
Tmem201	A	T	4: 149,811,774 (GRCm39)	F357Y	possibly damaging	Het
Trappc13	T	G	13: 104,303,329 (GRCm39)		probably benign	Het
Trav6-5	C	T	14: 53,728,883 (GRCm39)	Q47*	probably null	Het
Ubxn1	T	A	19: 8,849,399 (GRCm39)	D47E	probably benign	Het
Vmn2r45	G	T	7: 8,486,535 (GRCm39)	S251*	probably null	Het
Wnk1	A	G	6: 119,942,705 (GRCm39)	L774S	possibly damaging	Het
Zfp189	T	C	4: 49,530,081 (GRCm39)	S395P	probably damaging	Het

Other mutations in Cyp4f13

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00836:Cyp4f13	APN	17	33,160,138 (GRCm39)	missense	probably benign	0.00
IGL01835:Cyp4f13	APN	17	33,149,588 (GRCm39)	missense	probably benign	0.39
IGL02234:Cyp4f13	APN	17	33,143,748 (GRCm39)	utr 3 prime	probably benign
IGL02437:Cyp4f13	APN	17	33,149,582 (GRCm39)	missense	probably benign	0.12
IGL02465:Cyp4f13	APN	17	33,148,110 (GRCm39)	critical splice donor site	probably null
IGL02604:Cyp4f13	APN	17	33,151,395 (GRCm39)	missense	probably benign	0.01
IGL02934:Cyp4f13	APN	17	33,148,845 (GRCm39)	missense	probably damaging	1.00
IGL03177:Cyp4f13	APN	17	33,165,888 (GRCm39)	missense	possibly damaging	0.88
R0117:Cyp4f13	UTSW	17	33,149,580 (GRCm39)	missense	probably damaging	0.98
R0138:Cyp4f13	UTSW	17	33,160,080 (GRCm39)	missense	possibly damaging	0.63
R0220:Cyp4f13	UTSW	17	33,148,476 (GRCm39)	missense	probably damaging	1.00
R0243:Cyp4f13	UTSW	17	33,143,943 (GRCm39)	splice site	probably benign
R0357:Cyp4f13	UTSW	17	33,151,625 (GRCm39)	nonsense	probably null
R1078:Cyp4f13	UTSW	17	33,144,542 (GRCm39)	missense	probably damaging	1.00
R1757:Cyp4f13	UTSW	17	33,148,932 (GRCm39)	missense	probably damaging	1.00
R1990:Cyp4f13	UTSW	17	33,144,542 (GRCm39)	missense	probably damaging	1.00
R2351:Cyp4f13	UTSW	17	33,144,570 (GRCm39)	missense	probably benign	0.01
R4865:Cyp4f13	UTSW	17	33,144,678 (GRCm39)	missense	probably damaging	1.00
R5004:Cyp4f13	UTSW	17	33,144,760 (GRCm39)	missense	probably benign	0.39
R5310:Cyp4f13	UTSW	17	33,144,795 (GRCm39)	missense	probably damaging	1.00
R5574:Cyp4f13	UTSW	17	33,148,179 (GRCm39)	missense	probably benign	0.39
R5996:Cyp4f13	UTSW	17	33,148,447 (GRCm39)	missense	possibly damaging	0.87
R6190:Cyp4f13	UTSW	17	33,148,847 (GRCm39)	missense	probably damaging	1.00
R8254:Cyp4f13	UTSW	17	33,148,907 (GRCm39)	missense	probably benign	0.04
R8495:Cyp4f13	UTSW	17	33,143,833 (GRCm39)	missense	probably damaging	1.00
R8496:Cyp4f13	UTSW	17	33,143,833 (GRCm39)	missense	probably damaging	1.00
R8498:Cyp4f13	UTSW	17	33,143,833 (GRCm39)	missense	probably damaging	1.00
R9067:Cyp4f13	UTSW	17	33,143,801 (GRCm39)	missense	probably damaging	1.00
R9225:Cyp4f13	UTSW	17	33,148,175 (GRCm39)	missense	probably damaging	1.00
R9225:Cyp4f13	UTSW	17	33,144,319 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GAACCCCGAAAATGCTGATG -3'
(R):5'- TGGCCTCCACAGACATATAGC -3'

Sequencing Primer
(F):5'- ATGCTGATGACACAGATGTTCCC -3'
(R):5'- CAGTATTTTAGGTACAGAACTGTGG -3'

Posted On

2015-10-21