Mutagenetix > Incidental Mutation

Incidental Mutation 'R8321:Cyp4f18'

641964

Institutional Source

Beutler Lab

Gene Symbol

Cyp4f18

Ensembl Gene

ENSMUSG00000003484

Gene Name

cytochrome P450, family 4, subfamily f, polypeptide 18

Synonyms

1810054N16Rik

MMRRC Submission

067723-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8321 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

72742326-72763470 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 72742427 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Serine at position 518 (P518S)

Ref Sequence

ENSEMBL: ENSMUSP00000003574 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000003574]

AlphaFold

Q99N16

Predicted Effect

possibly damaging
Transcript: ENSMUST00000003574
AA Change: P518S

PolyPhen 2 Score 0.875 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000003574
Gene: ENSMUSG00000003484
AA Change: P518S

Domain	Start	End	E-Value	Type
signal peptide	1	16	N/A	INTRINSIC
transmembrane domain	20	42	N/A	INTRINSIC
Pfam:p450	52	516	2.7e-132	PFAM

Predicted Effect

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.2%

Validation Efficiency

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 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, CYP4F11, is approximately 16 kb away. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit altered leukotriene B4 metabolism but show no significant alterations in inflammatory cell infiltration or injury following renal ischemia-reperfusion. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arhgap44	A	G	11: 64,899,053 (GRCm39)	V708A	probably benign	Het
Atg9a	G	A	1: 75,162,342 (GRCm39)	Q523*	probably null	Het
Bank1	T	A	3: 135,940,395 (GRCm39)	E329V	possibly damaging	Het
Ccdc162	C	A	10: 41,510,029 (GRCm39)	A859S	probably damaging	Het
Cdh11	T	C	8: 103,361,416 (GRCm39)	R641G	probably damaging	Het
Cfap58	A	G	19: 47,946,586 (GRCm39)	E373G	probably damaging	Het
Chd8	T	C	14: 52,470,024 (GRCm39)	T529A	probably benign	Het
Chtf18	G	A	17: 25,939,865 (GRCm39)	T747I	probably benign	Het
Cyp2j6	A	G	4: 96,441,684 (GRCm39)	L2P	probably benign	Het
Dmrtc1a	G	A	X: 101,952,221 (GRCm39)	R8W	probably benign	Het
Dpyd	T	C	3: 118,575,573 (GRCm39)	V137A	possibly damaging	Het
Epha6	A	G	16: 59,736,317 (GRCm39)	V739A	probably damaging	Het
Ern2	C	T	7: 121,772,431 (GRCm39)	A676T	probably damaging	Het
Fam20c	A	T	5: 138,743,686 (GRCm39)	I241F	possibly damaging	Het
Fastkd2	A	G	1: 63,787,138 (GRCm39)	H524R	probably benign	Het
Foxq1	T	C	13: 31,743,251 (GRCm39)	Y118H	probably damaging	Het
Gfm1	C	T	3: 67,337,594 (GRCm39)	A8V	probably benign	Het
Gfm2	C	T	13: 97,299,500 (GRCm39)	T407M	possibly damaging	Het
Gldc	G	A	19: 30,120,807 (GRCm39)	Q375*	probably null	Het
Gm5114	A	G	7: 39,060,273 (GRCm39)	I192T	possibly damaging	Het
Gnb1	A	T	4: 155,639,482 (GRCm39)	N237I	possibly damaging	Het
Herc2	C	T	7: 55,879,096 (GRCm39)	P4662S	possibly damaging	Het
Herc3	C	T	6: 58,820,754 (GRCm39)	S46F	possibly damaging	Het
Hgsnat	C	T	8: 26,461,179 (GRCm39)	G153E	possibly damaging	Het
Idh2	TCCCAGG	T	7: 79,748,079 (GRCm39)		probably benign	Het
Igkv2-137	GA	GAA	6: 67,533,154 (GRCm39)		probably null	Het
Invs	T	A	4: 48,283,267 (GRCm39)	D6E	probably benign	Het
Jakmip3	T	C	7: 138,628,613 (GRCm39)	V463A	probably benign	Het
Jarid2	T	A	13: 45,001,862 (GRCm39)	S96R	probably damaging	Het
Krtap6-1	A	C	16: 88,828,624 (GRCm39)	N7H	unknown	Het
Matn4	A	T	2: 164,235,207 (GRCm39)	V455D	probably damaging	Het
Nbea	G	A	3: 56,090,518 (GRCm39)	P47S	possibly damaging	Het
Oit3	T	C	10: 59,263,982 (GRCm39)	H384R	probably benign	Het
Or1e27-ps1	G	A	11: 73,556,362 (GRCm39)	R309H	unknown	Het
Or8b42	A	T	9: 38,341,850 (GRCm39)	I91F	probably damaging	Het
Pabpc4l	T	A	3: 46,400,729 (GRCm39)	D305V	probably damaging	Het
Papln	G	A	12: 83,821,715 (GRCm39)	W314*	probably null	Het
Pask	G	A	1: 93,248,377 (GRCm39)	R975C	possibly damaging	Het
Pate13	G	T	9: 35,820,749 (GRCm39)	C111F	probably damaging	Het
Plce1	A	G	19: 38,640,380 (GRCm39)	N542S	probably benign	Het
Rasal1	C	T	5: 120,804,420 (GRCm39)	R431C	probably benign	Het
Rnf17	TG	T	14: 56,661,999 (GRCm39)	132	probably null	Het
Sez6l2	C	A	7: 126,557,588 (GRCm39)	T334N	probably damaging	Het
Sh3d19	A	G	3: 86,001,071 (GRCm39)	T256A	probably damaging	Het
Slit2	A	T	5: 48,387,609 (GRCm39)	N545Y	probably damaging	Het
Sprtn	A	T	8: 125,629,994 (GRCm39)	D429V	possibly damaging	Het
Srcap	T	C	7: 127,140,068 (GRCm39)	V1389A	probably damaging	Het
Tecta	C	A	9: 42,284,349 (GRCm39)	C912F	probably damaging	Het
Tns1	T	A	1: 74,024,939 (GRCm39)		probably null	Het
Tprg1l	A	G	4: 154,244,860 (GRCm39)	V76A	probably benign	Het
Trav12-2	G	T	14: 53,853,840 (GRCm39)		probably benign	Het
Trio	T	C	15: 27,881,412 (GRCm39)	D612G	possibly damaging	Het
Usp6nl	A	T	2: 6,395,900 (GRCm39)	Q36H	possibly damaging	Het
Vps9d1	A	T	8: 123,975,544 (GRCm39)	M167K	possibly damaging	Het
Zfhx4	T	A	3: 5,466,187 (GRCm39)	L2140Q	probably damaging	Het
Zfp512b	A	G	2: 181,228,931 (GRCm39)	V678A	possibly damaging	Het
Zfp800	A	G	6: 28,242,992 (GRCm39)	S658P	probably damaging	Het
Zscan22	A	G	7: 12,637,625 (GRCm39)	S6G	probably benign	Het

Other mutations in Cyp4f18

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00228:Cyp4f18	APN	8	72,743,771 (GRCm39)	missense	probably damaging	0.96
IGL01465:Cyp4f18	APN	8	72,756,288 (GRCm39)	missense	probably benign
IGL01863:Cyp4f18	APN	8	72,743,770 (GRCm39)	missense	possibly damaging	0.49
IGL02403:Cyp4f18	APN	8	72,752,072 (GRCm39)	missense	probably damaging	0.97
IGL03244:Cyp4f18	APN	8	72,742,489 (GRCm39)	missense	probably benign	0.12
R0226:Cyp4f18	UTSW	8	72,743,619 (GRCm39)	splice site	probably benign
R0310:Cyp4f18	UTSW	8	72,754,856 (GRCm39)	splice site	probably benign
R0486:Cyp4f18	UTSW	8	72,749,861 (GRCm39)	missense	probably benign	0.02
R0506:Cyp4f18	UTSW	8	72,749,844 (GRCm39)	missense	probably benign	0.00
R0547:Cyp4f18	UTSW	8	72,749,854 (GRCm39)	missense	probably benign	0.00
R0689:Cyp4f18	UTSW	8	72,749,812 (GRCm39)	missense	probably benign
R0721:Cyp4f18	UTSW	8	72,754,979 (GRCm39)	missense	probably benign	0.02
R1534:Cyp4f18	UTSW	8	72,746,799 (GRCm39)	missense	probably damaging	1.00
R2087:Cyp4f18	UTSW	8	72,754,832 (GRCm39)	missense	probably benign
R2902:Cyp4f18	UTSW	8	72,756,255 (GRCm39)	missense	probably damaging	0.96
R3149:Cyp4f18	UTSW	8	72,747,044 (GRCm39)	missense	possibly damaging	0.69
R3150:Cyp4f18	UTSW	8	72,747,044 (GRCm39)	missense	possibly damaging	0.69
R3177:Cyp4f18	UTSW	8	72,747,044 (GRCm39)	missense	possibly damaging	0.69
R3277:Cyp4f18	UTSW	8	72,747,044 (GRCm39)	missense	possibly damaging	0.69
R3906:Cyp4f18	UTSW	8	72,754,926 (GRCm39)	splice site	probably benign
R3916:Cyp4f18	UTSW	8	72,749,881 (GRCm39)	missense	probably benign	0.03
R3953:Cyp4f18	UTSW	8	72,754,801 (GRCm39)	missense	probably damaging	1.00
R4815:Cyp4f18	UTSW	8	72,749,839 (GRCm39)	missense	possibly damaging	0.52
R4915:Cyp4f18	UTSW	8	72,762,898 (GRCm39)	missense	probably damaging	1.00
R5086:Cyp4f18	UTSW	8	72,756,276 (GRCm39)	missense	probably benign	0.00
R5113:Cyp4f18	UTSW	8	72,742,902 (GRCm39)	critical splice donor site	probably null
R5202:Cyp4f18	UTSW	8	72,762,940 (GRCm39)	missense	probably benign	0.03
R5761:Cyp4f18	UTSW	8	72,749,975 (GRCm39)	missense	probably damaging	0.99
R6187:Cyp4f18	UTSW	8	72,747,030 (GRCm39)	missense	probably damaging	0.98
R6664:Cyp4f18	UTSW	8	72,743,759 (GRCm39)	missense	probably benign	0.21
R6944:Cyp4f18	UTSW	8	72,743,738 (GRCm39)	missense	probably benign	0.03
R6978:Cyp4f18	UTSW	8	72,756,340 (GRCm39)	missense	probably benign
R7288:Cyp4f18	UTSW	8	72,747,017 (GRCm39)	missense	probably damaging	1.00
R7326:Cyp4f18	UTSW	8	72,742,498 (GRCm39)	missense	probably benign	0.14
R7432:Cyp4f18	UTSW	8	72,749,906 (GRCm39)	missense	probably benign	0.00
R7871:Cyp4f18	UTSW	8	72,742,487 (GRCm39)	missense	possibly damaging	0.69
R8063:Cyp4f18	UTSW	8	72,752,075 (GRCm39)	missense	probably damaging	1.00
R8272:Cyp4f18	UTSW	8	72,742,935 (GRCm39)	missense	probably benign	0.44
R9296:Cyp4f18	UTSW	8	72,756,301 (GRCm39)	missense	probably benign	0.07
Z1177:Cyp4f18	UTSW	8	72,752,127 (GRCm39)	missense	probably benign	0.04

Predicted Primers

PCR Primer
(F):5'- ACTCAAACACCTTTCATGGCTC -3'
(R):5'- TGGTCCCAGAAACCTCAGAC -3'

Sequencing Primer
(F):5'- TCCCTGTGGCTCACATGAG -3'
(R):5'- TCTTGGGCACAGTCAGAGTTCC -3'

Posted On

2020-07-28