Incidental Mutation 'R3277:Cyp4f18'
ID 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 8
Chromosomal Location 72742326-72763470 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 72747044 bp (GRCm39)
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

DomainStartEndE-ValueType
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 question?
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
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921509C19Rik T C 2: 151,314,020 (GRCm39) R553G possibly damaging Het
Adarb2 A G 13: 8,802,663 (GRCm39) N646S probably damaging Het
Adcy8 C T 15: 64,571,008 (GRCm39) G1242S probably benign Het
Ano9 T A 7: 140,684,037 (GRCm39) T543S probably damaging Het
Btnl10 A G 11: 58,813,216 (GRCm39) K282E probably benign Het
Btnl9 T C 11: 49,060,503 (GRCm39) D330G probably damaging Het
Ccdc178 G T 18: 22,200,709 (GRCm39) A416E possibly damaging Het
Cdx2 A T 5: 147,240,002 (GRCm39) S225T probably benign Het
Clca4b T C 3: 144,617,120 (GRCm39) I843M probably benign Het
Cntn4 G A 6: 106,414,925 (GRCm39) probably null Het
Dennd4a G T 9: 64,796,275 (GRCm39) R767L probably damaging Het
Dgkb G A 12: 38,134,216 (GRCm39) V41M probably damaging Het
Duox1 T C 2: 122,170,597 (GRCm39) Y1206H probably damaging Het
Dync1i1 T C 6: 5,972,211 (GRCm39) probably null Het
Fbxw2 T C 2: 34,712,762 (GRCm39) T100A probably benign Het
Fcgbp C A 7: 27,791,086 (GRCm39) H782Q probably damaging Het
Flg2 A T 3: 93,122,195 (GRCm39) Q1455L unknown Het
Frrs1 T C 3: 116,692,873 (GRCm39) F49S probably damaging Het
Gli3 A T 13: 15,900,567 (GRCm39) Q1318L probably benign Het
Gm5592 A G 7: 40,937,804 (GRCm39) E362G probably benign Het
Gm7104 A T 12: 88,252,498 (GRCm39) noncoding transcript Het
Gpatch2l A G 12: 86,291,089 (GRCm39) T91A possibly damaging Het
Hacd4 T C 4: 88,355,747 (GRCm39) H46R probably damaging Het
Herc2 T C 7: 55,803,176 (GRCm39) V2175A probably benign Het
Hey1 T C 3: 8,729,951 (GRCm39) S169G probably benign Het
Hivep2 C A 10: 14,004,713 (GRCm39) T437K probably benign Het
Hlf T C 11: 90,236,661 (GRCm39) K199E probably damaging Het
Hpgd C A 8: 56,751,448 (GRCm39) A92E probably damaging Het
Hsp90aa1 T A 12: 110,662,114 (GRCm39) M1L possibly damaging Het
Hsp90aa1 C A 12: 110,662,115 (GRCm39) probably null Het
Itgad C A 7: 127,790,153 (GRCm39) H651N possibly damaging Het
Itgav A G 2: 83,606,886 (GRCm39) D409G probably damaging Het
Kif2a A G 13: 107,113,264 (GRCm39) I455T probably damaging Het
Klk14 G A 7: 43,341,501 (GRCm39) C51Y probably damaging Het
Lamc3 G T 2: 31,798,637 (GRCm39) G448C probably damaging Het
Ltbp1 G A 17: 75,583,475 (GRCm39) G425D possibly damaging Het
Ltbp1 T A 17: 75,666,273 (GRCm39) probably null Het
Mag C T 7: 30,601,073 (GRCm39) probably null Het
Mdh1b G A 1: 63,750,690 (GRCm39) T426M possibly damaging Het
Nr1h4 G A 10: 89,314,650 (GRCm39) T282I possibly damaging Het
Nsf C T 11: 103,821,578 (GRCm39) E26K possibly damaging Het
Or4c1 C T 2: 89,133,562 (GRCm39) V125M possibly damaging Het
Or52k2 T C 7: 102,253,783 (GRCm39) V74A possibly damaging Het
Or9s27 A G 1: 92,516,535 (GRCm39) N161S probably benign Het
Padi6 A G 4: 140,462,700 (GRCm39) L307P probably damaging Het
Parp9 T C 16: 35,768,578 (GRCm39) S20P probably damaging Het
Pdcd11 T C 19: 47,101,703 (GRCm39) F963L probably damaging Het
Pwp1 C T 10: 85,717,943 (GRCm39) L294F probably benign Het
Radil A G 5: 142,492,611 (GRCm39) L339P probably damaging Het
Raver1 G A 9: 20,990,573 (GRCm39) P316S possibly damaging Het
Rell1 A G 5: 64,084,330 (GRCm39) probably null Het
Rxrg A G 1: 167,463,269 (GRCm39) D257G possibly damaging Het
Sema4c C T 1: 36,588,960 (GRCm39) R722H possibly damaging Het
Sgk1 C T 10: 21,872,500 (GRCm39) R171W probably damaging Het
Spata7 A G 12: 98,603,857 (GRCm39) N75D possibly damaging Het
Ttc23l A G 15: 10,547,318 (GRCm39) F99L possibly damaging Het
Unc13a A C 8: 72,082,339 (GRCm39) C1642G probably benign Het
Usp36 C T 11: 118,167,585 (GRCm39) probably null Het
Wrn A G 8: 33,807,582 (GRCm39) M292T probably damaging Het
Zfp423 A G 8: 88,508,959 (GRCm39) Y462H probably damaging Het
Zscan5b T A 7: 6,234,345 (GRCm39) Y124N possibly damaging Het
Zswim9 T C 7: 13,011,196 (GRCm39) T51A possibly damaging Het
Other mutations in Cyp4f18
AlleleSourceChrCoordTypePredicted EffectPPH 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
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
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
Posted On 2017-05-11