Mutagenetix > Incidental Mutation

Incidental Mutation 'R7288:Cyp4f18'

566161

Institutional Source

Beutler Lab

Gene Symbol

Cyp4f18

Ensembl Gene

ENSMUSG00000003484

Gene Name

cytochrome P450, family 4, subfamily f, polypeptide 18

Synonyms

1810054N16Rik

MMRRC Submission

045395-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7288 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

72742326-72763470 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 72747017 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 326 (M326K)

Ref Sequence

ENSEMBL: ENSMUSP00000003574 (fasta)

Gene Model

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

AlphaFold

Q99N16

Predicted Effect

probably damaging
Transcript: ENSMUST00000003574
AA Change: M326K

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000003574
Gene: ENSMUSG00000003484
AA Change: M326K

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

probably benign
Transcript: ENSMUST00000141975

Coding Region Coverage

1x: 100.0%
3x: 100.0%
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: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2810021J22Rik	T	A	11: 58,771,131 (GRCm39)	D204E	probably benign	Het
Adh1	T	G	3: 137,988,493 (GRCm39)	D155E	probably benign	Het
Akt1s1	T	C	7: 44,498,571 (GRCm39)	L2P	unknown	Het
Ash1l	T	A	3: 88,873,199 (GRCm39)		probably benign	Het
Bend7	C	T	2: 4,757,641 (GRCm39)	P228S	probably damaging	Het
Bpifc	T	C	10: 85,824,585 (GRCm39)	E218G	possibly damaging	Het
Cdk6	T	A	5: 3,479,001 (GRCm39)	F127Y	probably benign	Het
Cgnl1	A	T	9: 71,632,846 (GRCm39)	H168Q	possibly damaging	Het
Chd7	C	T	4: 8,847,093 (GRCm39)	T1612I	possibly damaging	Het
Col4a4	A	T	1: 82,470,184 (GRCm39)	C782S	unknown	Het
Copg2	T	A	6: 30,801,341 (GRCm39)	I364L	probably damaging	Het
Crygb	A	G	1: 65,121,084 (GRCm39)	L81P	probably benign	Het
Dhx34	A	G	7: 15,949,361 (GRCm39)	S356P	probably benign	Het
Dmbt1	C	T	7: 130,685,519 (GRCm39)	Q855*	probably null	Het
Dnai3	T	C	3: 145,787,007 (GRCm39)	T343A	probably damaging	Het
Dnph1	A	G	17: 46,809,938 (GRCm39)	N160S	probably benign	Het
Esrra	A	T	19: 6,890,139 (GRCm39)	C228*	probably null	Het
Evpl	T	C	11: 116,114,775 (GRCm39)	N972D	probably benign	Het
Fat3	T	C	9: 15,909,888 (GRCm39)	D2038G	probably damaging	Het
Fhit	T	A	14: 9,763,784 (GRCm38)	R102W	probably damaging	Het
Gal3st1	A	T	11: 3,948,609 (GRCm39)	D272V	probably damaging	Het
Gal3st1	T	A	11: 3,948,651 (GRCm39)	V286D	probably damaging	Het
Gemin4	A	T	11: 76,104,206 (GRCm39)	M185K	possibly damaging	Het
Hecw1	T	C	13: 14,490,821 (GRCm39)	I311V	probably benign	Het
Ift172	T	C	5: 31,442,630 (GRCm39)	Y179C	probably damaging	Het
Ighv7-3	C	T	12: 114,116,963 (GRCm39)	W66*	probably null	Het
Iqgap3	T	A	3: 88,016,142 (GRCm39)	I975N	probably damaging	Het
Khdrbs3	A	G	15: 68,921,262 (GRCm39)	E281G	possibly damaging	Het
Lamb2	A	T	9: 108,365,523 (GRCm39)	T1369S	probably benign	Het
Mettl8	A	T	2: 70,812,382 (GRCm39)	D84E	probably benign	Het
Mrgprb3	C	A	7: 48,293,059 (GRCm39)	C164F	probably damaging	Het
Mtg2	A	G	2: 179,725,180 (GRCm39)	Y131C	probably damaging	Het
Nacc1	C	T	8: 85,403,174 (GRCm39)	A234T	probably benign	Het
Nsmaf	C	T	4: 6,416,641 (GRCm39)	V551I	probably benign	Het
Or13a26	T	A	7: 140,284,942 (GRCm39)	C259*	probably null	Het
Or7e175	T	A	9: 20,048,737 (GRCm39)	Y108*	probably null	Het
Oxr1	C	T	15: 41,677,004 (GRCm39)	P187L	not run	Het
Pcdhb12	T	A	18: 37,569,068 (GRCm39)	D71E	probably benign	Het
Pigt	CCAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGATCTGTAACCACAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGATCTGTAACCACAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGAT	CCAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGATCTGTAACCACAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGAT	2: 164,341,589 (GRCm39)		probably null	Het
Pkm	A	G	9: 59,576,196 (GRCm39)	S127G	probably benign	Het
Plxna2	T	A	1: 194,479,227 (GRCm39)	L1296H	probably damaging	Het
Ppil6	C	G	10: 41,374,524 (GRCm39)	T135R	probably benign	Het
Ppp2r3d	T	C	9: 101,004,203 (GRCm39)	Y378C	probably damaging	Het
Rabep2	C	T	7: 126,043,377 (GRCm39)	R426C	probably damaging	Het
Rad21	A	T	15: 51,845,976 (GRCm39)	H31Q	possibly damaging	Het
Rad50	G	T	11: 53,545,776 (GRCm39)	Y1182*	probably null	Het
Serpinb9c	C	T	13: 33,335,883 (GRCm39)	A218T	possibly damaging	Het
Slc34a1	C	A	13: 24,003,095 (GRCm39)	H248Q	probably benign	Het
Slc45a4	C	A	15: 73,458,785 (GRCm39)	E255*	probably null	Het
Slc8a3	T	A	12: 81,263,598 (GRCm39)	K596N	possibly damaging	Het
Tbc1d32	A	C	10: 55,927,483 (GRCm39)		probably null	Het
Tbl2	T	A	5: 135,183,253 (GRCm39)	I112N	possibly damaging	Het
Tchp	A	C	5: 114,853,630 (GRCm39)	K238T	probably damaging	Het
Tfap2d	G	A	1: 19,189,207 (GRCm39)	G251D	probably damaging	Het
Thrb	T	A	14: 18,030,186 (GRCm38)	M324K	probably damaging	Het
Tmem259	A	T	10: 79,814,300 (GRCm39)	L328Q	probably damaging	Het
Tmtc2	T	C	10: 105,249,469 (GRCm39)	H88R	probably damaging	Het
Tnfrsf21	A	G	17: 43,348,709 (GRCm39)	H107R	possibly damaging	Het
Trib1	T	C	15: 59,526,471 (GRCm39)	V347A	probably benign	Het
Ung	T	A	5: 114,269,315 (GRCm39)	L9*	probably null	Het
Vmn1r195	G	T	13: 22,463,174 (GRCm39)	V215F	probably damaging	Het
Wdr90	A	G	17: 26,065,286 (GRCm39)	S1657P	probably benign	Het
Wdsub1	A	T	2: 59,708,487 (GRCm39)	Y129N	possibly damaging	Het
Zfp369	T	G	13: 65,432,832 (GRCm39)		probably null	Het
Zfp770	G	T	2: 114,026,142 (GRCm39)	C642*	probably null	Het
Zfp981	C	T	4: 146,622,100 (GRCm39)	R342C	probably benign	Het
Zhx3	A	C	2: 160,623,042 (GRCm39)	V375G	probably damaging	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
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'- GTGGTGTCATGGCCTGAAAG -3'
(R):5'- TCTGGTAAAGTACACAGGTGC -3'

Sequencing Primer
(F):5'- GGGTCTCTAGGCTGCTTCAG -3'
(R):5'- TAAAGTACACAGGTGCAGGTG -3'

Posted On

2019-06-26