Mutagenetix > Incidental Mutation

Incidental Mutation 'R5086:Cyp4f18'

387446

Institutional Source

Beutler Lab

Gene Symbol

Cyp4f18

Ensembl Gene

ENSMUSG00000003484

Gene Name

cytochrome P450, family 4, subfamily f, polypeptide 18

Synonyms

1810054N16Rik

MMRRC Submission

042675-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5086 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

72742326-72763470 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 72756276 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Histidine at position 100 (R100H)

Ref Sequence

ENSEMBL: ENSMUSP00000003574 (fasta)

Gene Model

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

AlphaFold

Q99N16

Predicted Effect

probably benign
Transcript: ENSMUST00000003574
AA Change: R100H

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000003574
Gene: ENSMUSG00000003484
AA Change: R100H

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

Meta Mutation Damage Score

0.0629

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.3%
20x: 92.3%

Validation Efficiency

99% (80/81)

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: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adsl	T	A	15: 80,847,901 (GRCm39)	M278K	probably damaging	Het
Ago1	T	C	4: 126,347,397 (GRCm39)	I147V	probably benign	Het
Ank1	T	C	8: 23,578,634 (GRCm39)	L261P	probably damaging	Het
Ank2	T	C	3: 126,740,997 (GRCm39)		probably benign	Het
Ap1b1	T	C	11: 4,968,020 (GRCm39)	V177A	possibly damaging	Het
Arhgap21	A	G	2: 20,853,645 (GRCm39)	S1906P	probably benign	Het
Asb1	A	G	1: 91,482,533 (GRCm39)	Y214C	probably benign	Het
BC049715	C	T	6: 136,817,429 (GRCm39)	T223M	probably damaging	Het
C1ra	T	A	6: 124,496,688 (GRCm39)	C375S	probably damaging	Het
Cdh26	C	T	2: 178,083,210 (GRCm39)	R26*	probably null	Het
Chordc1	A	G	9: 18,224,131 (GRCm39)	M304V	probably benign	Het
Cpne8	T	C	15: 90,532,771 (GRCm39)		probably benign	Het
Cracd	A	G	5: 77,004,971 (GRCm39)	E444G	unknown	Het
Csf1	T	C	3: 107,656,026 (GRCm39)	E335G	possibly damaging	Het
Ctnnd2	C	T	15: 30,683,493 (GRCm39)	P498L	possibly damaging	Het
Dnaaf2	G	A	12: 69,244,060 (GRCm39)	R334C	probably damaging	Het
Dnase1l1	C	T	X: 73,320,644 (GRCm39)		probably null	Het
Dock10	A	G	1: 80,529,189 (GRCm39)	S1071P	possibly damaging	Het
Dtnb	T	C	12: 3,682,942 (GRCm39)	V7A	probably benign	Het
Eif1	T	C	11: 100,211,552 (GRCm39)	I62T	probably damaging	Het
Fbxo44	T	A	4: 148,240,669 (GRCm39)	T145S	probably benign	Het
G530012D18Rik	G	C	1: 85,504,941 (GRCm39)		probably benign	Het
Gabbr2	A	T	4: 46,724,342 (GRCm39)	M17K	probably damaging	Het
Gm5860	T	A	4: 81,984,173 (GRCm39)		noncoding transcript	Het
Gm7964	T	A	7: 83,406,560 (GRCm39)	F439Y	possibly damaging	Het
Gpbp1l1	C	A	4: 116,445,789 (GRCm39)	T297N	probably benign	Het
Greb1	C	T	12: 16,758,023 (GRCm39)		probably benign	Het
Gvin3	A	T	7: 106,197,234 (GRCm39)		noncoding transcript	Het
Hkdc1	T	C	10: 62,231,053 (GRCm39)		probably benign	Het
Ighv16-1	T	A	12: 114,032,510 (GRCm39)	L97F	probably benign	Het
Il21r	A	G	7: 125,232,027 (GRCm39)	D485G	probably damaging	Het
Inpp5d	A	G	1: 87,633,686 (GRCm39)	H441R	probably damaging	Het
Iqgap2	G	T	13: 95,772,088 (GRCm39)	R1364S	probably benign	Het
Krtap20-2	G	T	16: 89,002,806 (GRCm39)	C2F	unknown	Het
Man2c1	T	A	9: 57,038,924 (GRCm39)	D111E	probably damaging	Het
Map1a	G	A	2: 121,134,985 (GRCm39)	E1696K	probably damaging	Het
Mdc1	T	A	17: 36,159,522 (GRCm39)	V634E	probably benign	Het
Mgam2-ps	A	G	6: 40,800,547 (GRCm39)		noncoding transcript	Het
Mllt3	T	A	4: 87,707,535 (GRCm39)	N68Y	probably damaging	Het
Mrps18a	T	A	17: 46,436,621 (GRCm39)	D143E	probably benign	Het
Myl12a	T	C	17: 71,301,611 (GRCm39)	D172G	possibly damaging	Het
Notch3	T	C	17: 32,362,308 (GRCm39)	N1439S	probably benign	Het
Npepps	T	C	11: 97,108,625 (GRCm39)	M764V	probably benign	Het
Or8d2b	T	C	9: 38,789,087 (GRCm39)	L205P	probably damaging	Het
Paxbp1	A	T	16: 90,812,104 (GRCm39)		probably benign	Het
Pcdhb7	A	T	18: 37,476,162 (GRCm39)	T433S	possibly damaging	Het
Pcdhb8	A	T	18: 37,489,159 (GRCm39)	Y279F	probably damaging	Het
Pim3	T	C	15: 88,748,606 (GRCm39)	L235P	probably damaging	Het
Plekha4	C	T	7: 45,203,082 (GRCm39)	S685F	possibly damaging	Het
Plekhg1	C	A	10: 3,853,649 (GRCm39)	H167Q	probably damaging	Het
Plekhn1	G	C	4: 156,306,881 (GRCm39)	P503A	probably benign	Het
Sar1a	T	C	10: 61,527,125 (GRCm39)	L181P	probably damaging	Het
Sec22a	G	T	16: 35,168,112 (GRCm39)	S133*	probably null	Het
Sipa1l3	G	A	7: 29,048,000 (GRCm39)	S247F	probably damaging	Het
Slc31a1	T	C	4: 62,306,190 (GRCm39)	S103P	probably damaging	Het
Spag6	A	C	2: 18,747,688 (GRCm39)		probably benign	Het
Stab1	T	A	14: 30,865,581 (GRCm39)	D1769V	probably damaging	Het
Stab1	G	A	14: 30,881,261 (GRCm39)	L590F	probably damaging	Het
Syde2	CAGTT	CAGTTAGTT	3: 145,707,163 (GRCm39)		probably null	Het
Tbc1d2b	A	G	9: 90,109,510 (GRCm39)	L322P	probably benign	Het
Tdrp	T	C	8: 14,024,590 (GRCm39)	E18G	possibly damaging	Het
Tlr3	T	A	8: 45,855,862 (GRCm39)	N106I	probably damaging	Het
Tmem104	T	A	11: 115,092,227 (GRCm39)	I112N	probably damaging	Het
Tmem14c	C	T	13: 41,174,598 (GRCm39)	T69I	probably benign	Het
Tmprss11g	G	A	5: 86,644,377 (GRCm39)	P156S	possibly damaging	Het
Ttn	A	T	2: 76,700,947 (GRCm39)		probably benign	Het
Vmn1r45	A	T	6: 89,910,082 (GRCm39)	I296N	probably benign	Het
Vmn2r1	T	A	3: 63,997,418 (GRCm39)	V358D	probably benign	Het
Zc3h7b	T	C	15: 81,677,375 (GRCm39)	L892P	probably damaging	Het
Zfp366	A	G	13: 99,365,451 (GRCm39)	Q204R	probably benign	Het
Zfp598	C	A	17: 24,899,872 (GRCm39)		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
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
R8321:Cyp4f18	UTSW	8	72,742,427 (GRCm39)	missense	possibly damaging	0.88
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'- GGTCCACACACCAGAAAGATGG -3'
(R):5'- GCTCAGTGCTGTGGATGAATTC -3'

Sequencing Primer
(F):5'- TGCTCTAAACAGGTGCCACATG -3'
(R):5'- GATGAATTCCTGGAACTCCTGTGAC -3'

Posted On

2016-06-06