Mutagenetix > Incidental Mutation

Incidental Mutation 'R3277:Cyp4f18'

475854

Institutional Source

Beutler Lab

Gene Symbol

Cyp4f18

Ensembl Gene

ENSMUSG00000003484

Gene Name

cytochrome P450, family 4, subfamily f, polypeptide 18

Synonyms

1810054N16Rik

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R3277 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

71988482-72009626 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 71993200 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 317 (D317G)

Ref Sequence

ENSEMBL: ENSMUSP00000003574 (fasta)

Gene Model

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

AlphaFold

Q99N16

Predicted Effect

possibly damaging
Transcript: ENSMUST00000003574
AA Change: D317G

PolyPhen 2 Score 0.693 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000003574
Gene: ENSMUSG00000003484
AA Change: D317G

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

noncoding transcript
Transcript: ENSMUST00000125448

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000136878

Predicted Effect

probably benign
Transcript: ENSMUST00000141975

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.1%
20x: 94.6%

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: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921509C19Rik	T	C	2: 151,472,100 (GRCm38)	R553G	possibly damaging	Het
Adarb2	A	G	13: 8,752,627 (GRCm38)	N646S	probably damaging	Het
Adcy8	C	T	15: 64,699,159 (GRCm38)	G1242S	probably benign	Het
Ano9	T	A	7: 141,104,124 (GRCm38)	T543S	probably damaging	Het
Btnl10	A	G	11: 58,922,390 (GRCm38)	K282E	probably benign	Het
Btnl9	T	C	11: 49,169,676 (GRCm38)	D330G	probably damaging	Het
Ccdc178	G	T	18: 22,067,652 (GRCm38)	A416E	possibly damaging	Het
Cdx2	A	T	5: 147,303,192 (GRCm38)	S225T	probably benign	Het
Clca4b	T	C	3: 144,911,359 (GRCm38)	I843M	probably benign	Het
Cntn4	G	A	6: 106,437,964 (GRCm38)		probably null	Het
Dennd4a	G	T	9: 64,888,993 (GRCm38)	R767L	probably damaging	Het
Dgkb	G	A	12: 38,084,217 (GRCm38)	V41M	probably damaging	Het
Duox1	T	C	2: 122,340,116 (GRCm38)	Y1206H	probably damaging	Het
Dync1i1	T	C	6: 5,972,211 (GRCm38)		probably null	Het
Fbxw2	T	C	2: 34,822,750 (GRCm38)	T100A	probably benign	Het
Fcgbp	C	A	7: 28,091,661 (GRCm38)	H782Q	probably damaging	Het
Flg2	A	T	3: 93,214,888 (GRCm38)	Q1455L	unknown	Het
Frrs1	T	C	3: 116,899,224 (GRCm38)	F49S	probably damaging	Het
Gli3	A	T	13: 15,725,982 (GRCm38)	Q1318L	probably benign	Het
Gm5592	A	G	7: 41,288,380 (GRCm38)	E362G	probably benign	Het
Gm7104	A	T	12: 88,285,728 (GRCm38)		noncoding transcript	Het
Gpatch2l	A	G	12: 86,244,315 (GRCm38)	T91A	possibly damaging	Het
Hacd4	T	C	4: 88,437,510 (GRCm38)	H46R	probably damaging	Het
Herc2	T	C	7: 56,153,428 (GRCm38)	V2175A	probably benign	Het
Hey1	T	C	3: 8,664,891 (GRCm38)	S169G	probably benign	Het
Hivep2	C	A	10: 14,128,969 (GRCm38)	T437K	probably benign	Het
Hlf	T	C	11: 90,345,835 (GRCm38)	K199E	probably damaging	Het
Hpgd	C	A	8: 56,298,413 (GRCm38)	A92E	probably damaging	Het
Hsp90aa1	T	A	12: 110,695,680 (GRCm38)	M1L	possibly damaging	Het
Hsp90aa1	C	A	12: 110,695,681 (GRCm38)		probably null	Het
Itgad	C	A	7: 128,190,981 (GRCm38)	H651N	possibly damaging	Het
Itgav	A	G	2: 83,776,542 (GRCm38)	D409G	probably damaging	Het
Kif2a	A	G	13: 106,976,756 (GRCm38)	I455T	probably damaging	Het
Klk14	G	A	7: 43,692,077 (GRCm38)	C51Y	probably damaging	Het
Lamc3	G	T	2: 31,908,625 (GRCm38)	G448C	probably damaging	Het
Ltbp1	G	A	17: 75,276,480 (GRCm38)	G425D	possibly damaging	Het
Ltbp1	T	A	17: 75,359,278 (GRCm38)		probably null	Het
Mag	C	T	7: 30,901,648 (GRCm38)		probably null	Het
Mdh1b	G	A	1: 63,711,531 (GRCm38)	T426M	possibly damaging	Het
Nr1h4	G	A	10: 89,478,788 (GRCm38)	T282I	possibly damaging	Het
Nsf	C	T	11: 103,930,752 (GRCm38)	E26K	possibly damaging	Het
Olfr1231	C	T	2: 89,303,218 (GRCm38)	V125M	possibly damaging	Het
Olfr1412	A	G	1: 92,588,813 (GRCm38)	N161S	probably benign	Het
Olfr552	T	C	7: 102,604,576 (GRCm38)	V74A	possibly damaging	Het
Padi6	A	G	4: 140,735,389 (GRCm38)	L307P	probably damaging	Het
Parp9	T	C	16: 35,948,208 (GRCm38)	S20P	probably damaging	Het
Pdcd11	T	C	19: 47,113,264 (GRCm38)	F963L	probably damaging	Het
Pwp1	C	T	10: 85,882,079 (GRCm38)	L294F	probably benign	Het
Radil	A	G	5: 142,506,856 (GRCm38)	L339P	probably damaging	Het
Raver1	G	A	9: 21,079,277 (GRCm38)	P316S	possibly damaging	Het
Rell1	A	G	5: 63,926,987 (GRCm38)		probably null	Het
Rxrg	A	G	1: 167,635,700 (GRCm38)	D257G	possibly damaging	Het
Sema4c	C	T	1: 36,549,879 (GRCm38)	R722H	possibly damaging	Het
Sgk1	C	T	10: 21,996,601 (GRCm38)	R171W	probably damaging	Het
Spata7	A	G	12: 98,637,598 (GRCm38)	N75D	possibly damaging	Het
Ttc23l	A	G	15: 10,547,232 (GRCm38)	F99L	possibly damaging	Het
Unc13a	A	C	8: 71,629,695 (GRCm38)	C1642G	probably benign	Het
Usp36	C	T	11: 118,276,759 (GRCm38)		probably null	Het
Wrn	A	G	8: 33,317,554 (GRCm38)	M292T	probably damaging	Het
Zfp423	A	G	8: 87,782,331 (GRCm38)	Y462H	probably damaging	Het
Zscan5b	T	A	7: 6,231,346 (GRCm38)	Y124N	possibly damaging	Het
Zswim9	T	C	7: 13,277,270 (GRCm38)	T51A	possibly damaging	Het

Other mutations in Cyp4f18

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00228:Cyp4f18	APN	8	71,989,927 (GRCm38)	missense	probably damaging	0.96
IGL01465:Cyp4f18	APN	8	72,002,444 (GRCm38)	missense	probably benign
IGL01863:Cyp4f18	APN	8	71,989,926 (GRCm38)	missense	possibly damaging	0.49
IGL02403:Cyp4f18	APN	8	71,998,228 (GRCm38)	missense	probably damaging	0.97
IGL03244:Cyp4f18	APN	8	71,988,645 (GRCm38)	missense	probably benign	0.12
R0226:Cyp4f18	UTSW	8	71,989,775 (GRCm38)	splice site	probably benign
R0310:Cyp4f18	UTSW	8	72,001,012 (GRCm38)	splice site	probably benign
R0486:Cyp4f18	UTSW	8	71,996,017 (GRCm38)	missense	probably benign	0.02
R0506:Cyp4f18	UTSW	8	71,996,000 (GRCm38)	missense	probably benign	0.00
R0547:Cyp4f18	UTSW	8	71,996,010 (GRCm38)	missense	probably benign	0.00
R0689:Cyp4f18	UTSW	8	71,995,968 (GRCm38)	missense	probably benign
R0721:Cyp4f18	UTSW	8	72,001,135 (GRCm38)	missense	probably benign	0.02
R1534:Cyp4f18	UTSW	8	71,992,955 (GRCm38)	missense	probably damaging	1.00
R2087:Cyp4f18	UTSW	8	72,000,988 (GRCm38)	missense	probably benign
R2902:Cyp4f18	UTSW	8	72,002,411 (GRCm38)	missense	probably damaging	0.96
R3149:Cyp4f18	UTSW	8	71,993,200 (GRCm38)	missense	possibly damaging	0.69
R3150:Cyp4f18	UTSW	8	71,993,200 (GRCm38)	missense	possibly damaging	0.69
R3177:Cyp4f18	UTSW	8	71,993,200 (GRCm38)	missense	possibly damaging	0.69
R3906:Cyp4f18	UTSW	8	72,001,082 (GRCm38)	splice site	probably benign
R3916:Cyp4f18	UTSW	8	71,996,037 (GRCm38)	missense	probably benign	0.03
R3953:Cyp4f18	UTSW	8	72,000,957 (GRCm38)	missense	probably damaging	1.00
R4815:Cyp4f18	UTSW	8	71,995,995 (GRCm38)	missense	possibly damaging	0.52
R4915:Cyp4f18	UTSW	8	72,009,054 (GRCm38)	missense	probably damaging	1.00
R5086:Cyp4f18	UTSW	8	72,002,432 (GRCm38)	missense	probably benign	0.00
R5113:Cyp4f18	UTSW	8	71,989,058 (GRCm38)	critical splice donor site	probably null
R5202:Cyp4f18	UTSW	8	72,009,096 (GRCm38)	missense	probably benign	0.03
R5761:Cyp4f18	UTSW	8	71,996,131 (GRCm38)	missense	probably damaging	0.99
R6187:Cyp4f18	UTSW	8	71,993,186 (GRCm38)	missense	probably damaging	0.98
R6664:Cyp4f18	UTSW	8	71,989,915 (GRCm38)	missense	probably benign	0.21
R6944:Cyp4f18	UTSW	8	71,989,894 (GRCm38)	missense	probably benign	0.03
R6978:Cyp4f18	UTSW	8	72,002,496 (GRCm38)	missense	probably benign
R7288:Cyp4f18	UTSW	8	71,993,173 (GRCm38)	missense	probably damaging	1.00
R7326:Cyp4f18	UTSW	8	71,988,654 (GRCm38)	missense	probably benign	0.14
R7432:Cyp4f18	UTSW	8	71,996,062 (GRCm38)	missense	probably benign	0.00
R7871:Cyp4f18	UTSW	8	71,988,643 (GRCm38)	missense	possibly damaging	0.69
R8063:Cyp4f18	UTSW	8	71,998,231 (GRCm38)	missense	probably damaging	1.00
R8272:Cyp4f18	UTSW	8	71,989,091 (GRCm38)	missense	probably benign	0.44
R8321:Cyp4f18	UTSW	8	71,988,583 (GRCm38)	missense	possibly damaging	0.88
R9296:Cyp4f18	UTSW	8	72,002,457 (GRCm38)	missense	probably benign	0.07
Z1177:Cyp4f18	UTSW	8	71,998,283 (GRCm38)	missense	probably benign	0.04

Predicted Primers

Posted On

2017-05-11