Incidental Mutation 'IGL01863:Cyp4f18'
ID178416
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cyp4f18
Ensembl Gene ENSMUSG00000003484
Gene Namecytochrome P450, family 4, subfamily f, polypeptide 18
Synonyms1810054N16Rik
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL01863
Quality Score
Status
Chromosome8
Chromosomal Location71988482-72009626 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 71989926 bp
ZygosityHeterozygous
Amino Acid Change Valine to Alanine at position 395 (V395A)
Ref Sequence ENSEMBL: ENSMUSP00000003574 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000003574]
Predicted Effect possibly damaging
Transcript: ENSMUST00000003574
AA Change: V395A

PolyPhen 2 Score 0.489 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000003574
Gene: ENSMUSG00000003484
AA Change: V395A

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 unknown
Transcript: ENSMUST00000141975
AA Change: V51A
Predicted Effect noncoding transcript
Transcript: ENSMUST00000212022
Coding Region Coverage
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: 31 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Afg1l T A 10: 42,339,911 I326F possibly damaging Het
Aimp1 T C 3: 132,672,092 T171A probably benign Het
Armc4 T C 18: 7,222,617 T551A probably damaging Het
Ash1l T A 3: 88,985,506 L1564* probably null Het
Atp1a1 G T 3: 101,591,889 Y131* probably null Het
Celsr2 T C 3: 108,394,022 E2686G probably benign Het
Ephb2 T C 4: 136,659,777 Q713R probably benign Het
Esf1 A T 2: 140,120,679 M824K probably benign Het
Fam46c C T 3: 100,472,664 D259N probably benign Het
Fat4 T C 3: 38,970,619 probably benign Het
Gem A G 4: 11,705,980 I23V probably benign Het
Gm10718 A T 9: 3,025,118 Y194F probably benign Het
Gm5862 A C 5: 26,022,771 W41G probably benign Het
Il6st A G 13: 112,504,210 E779G possibly damaging Het
Lama3 T A 18: 12,419,936 probably benign Het
Lipi A C 16: 75,550,226 I435R probably damaging Het
Lrrc6 A T 15: 66,396,974 probably benign Het
Olfr291 T C 7: 84,856,411 L14P probably damaging Het
Omg C T 11: 79,502,224 M269I probably benign Het
Optn A T 2: 5,021,487 probably benign Het
Pex1 A G 5: 3,606,066 T298A probably benign Het
Rab27b T A 18: 69,989,554 R111S probably damaging Het
Rhbdf1 T G 11: 32,213,484 E329D probably benign Het
Slc2a13 T C 15: 91,516,492 I176V probably benign Het
Slc30a1 T A 1: 191,909,084 C281S probably damaging Het
Slc4a7 T A 14: 14,762,430 C509S probably damaging Het
Slfn9 T C 11: 82,981,325 R862G probably benign Het
Tbc1d2 A G 4: 46,607,064 I782T possibly damaging Het
Vmn2r-ps159 C T 4: 156,338,254 noncoding transcript Het
Vps33b T C 7: 80,274,311 probably null Het
Wrap73 A G 4: 154,145,333 I54V probably benign Het
Other mutations in Cyp4f18
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00228:Cyp4f18 APN 8 71989927 missense probably damaging 0.96
IGL01465:Cyp4f18 APN 8 72002444 missense probably benign
IGL02403:Cyp4f18 APN 8 71998228 missense probably damaging 0.97
IGL03244:Cyp4f18 APN 8 71988645 missense probably benign 0.12
R0226:Cyp4f18 UTSW 8 71989775 splice site probably benign
R0310:Cyp4f18 UTSW 8 72001012 splice site probably benign
R0486:Cyp4f18 UTSW 8 71996017 missense probably benign 0.02
R0506:Cyp4f18 UTSW 8 71996000 missense probably benign 0.00
R0547:Cyp4f18 UTSW 8 71996010 missense probably benign 0.00
R0689:Cyp4f18 UTSW 8 71995968 missense probably benign
R0721:Cyp4f18 UTSW 8 72001135 missense probably benign 0.02
R1534:Cyp4f18 UTSW 8 71992955 missense probably damaging 1.00
R2087:Cyp4f18 UTSW 8 72000988 missense probably benign
R2902:Cyp4f18 UTSW 8 72002411 missense probably damaging 0.96
R3149:Cyp4f18 UTSW 8 71993200 missense possibly damaging 0.69
R3150:Cyp4f18 UTSW 8 71993200 missense possibly damaging 0.69
R3177:Cyp4f18 UTSW 8 71993200 missense possibly damaging 0.69
R3277:Cyp4f18 UTSW 8 71993200 missense possibly damaging 0.69
R3906:Cyp4f18 UTSW 8 72001082 splice site probably benign
R3916:Cyp4f18 UTSW 8 71996037 missense probably benign 0.03
R3953:Cyp4f18 UTSW 8 72000957 missense probably damaging 1.00
R4815:Cyp4f18 UTSW 8 71995995 missense possibly damaging 0.52
R4915:Cyp4f18 UTSW 8 72009054 missense probably damaging 1.00
R5086:Cyp4f18 UTSW 8 72002432 missense probably benign 0.00
R5113:Cyp4f18 UTSW 8 71989058 critical splice donor site probably null
R5202:Cyp4f18 UTSW 8 72009096 missense probably benign 0.03
R5761:Cyp4f18 UTSW 8 71996131 missense probably damaging 0.99
R6187:Cyp4f18 UTSW 8 71993186 missense probably damaging 0.98
R6664:Cyp4f18 UTSW 8 71989915 missense probably benign 0.21
R6944:Cyp4f18 UTSW 8 71989894 missense probably benign 0.03
R6978:Cyp4f18 UTSW 8 72002496 missense probably benign
R7288:Cyp4f18 UTSW 8 71993173 missense probably damaging 1.00
R7326:Cyp4f18 UTSW 8 71988654 missense probably benign 0.14
R7432:Cyp4f18 UTSW 8 71996062 missense probably benign 0.00
R7871:Cyp4f18 UTSW 8 71988643 missense possibly damaging 0.69
R8063:Cyp4f18 UTSW 8 71998231 missense probably damaging 1.00
R8272:Cyp4f18 UTSW 8 71989091 missense probably benign 0.44
R8321:Cyp4f18 UTSW 8 71988583 missense possibly damaging 0.88
Z1177:Cyp4f18 UTSW 8 71998283 missense probably benign 0.04
Posted On2014-05-07