Incidental Mutation 'IGL01465:Cyp4f18'
ID 88094
Institutional Source Australian Phenomics Network (link to record)
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 # IGL01465
Quality Score
Status
Chromosome 8
Chromosomal Location 72742326-72763470 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 72756288 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Leucine at position 96 (H96L)
Ref Sequence ENSEMBL: ENSMUSP00000003574 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000003574]
AlphaFold Q99N16
Predicted Effect probably benign
Transcript: ENSMUST00000003574
AA Change: H96L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000003574
Gene: ENSMUSG00000003484
AA Change: H96L

DomainStartEndE-ValueType
signal peptide 1 16 N/A INTRINSIC
transmembrane domain 20 42 N/A INTRINSIC
Pfam:p450 52 516 2.7e-132 PFAM
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: 25 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aass A G 6: 23,114,838 (GRCm39) probably null Het
Abracl A T 10: 17,887,399 (GRCm39) I76N probably damaging Het
Akap12 C T 10: 4,306,886 (GRCm39) T1232I probably damaging Het
Clcn6 A T 4: 148,105,908 (GRCm39) probably benign Het
Cpsf2 C A 12: 101,963,592 (GRCm39) D440E probably damaging Het
Csf2ra A G 19: 61,214,436 (GRCm39) V243A possibly damaging Het
Dvl2 T A 11: 69,897,180 (GRCm39) I294N probably damaging Het
Fbn2 T A 18: 58,336,905 (GRCm39) N117Y probably null Het
Gdpd3 A G 7: 126,367,829 (GRCm39) I221V possibly damaging Het
Grk2 A T 19: 4,340,886 (GRCm39) C221S probably damaging Het
Idi1 T C 13: 8,940,415 (GRCm39) I199T probably benign Het
Klhl6 T C 16: 19,801,572 (GRCm39) E61G probably damaging Het
Lig1 T A 7: 13,030,317 (GRCm39) S431R probably benign Het
Lrg1 T C 17: 56,427,705 (GRCm39) E89G probably benign Het
Lrrk2 A G 15: 91,613,128 (GRCm39) K751E probably benign Het
Macf1 T A 4: 123,384,514 (GRCm39) T1128S probably benign Het
Nphs1 T C 7: 30,186,139 (GRCm39) *1243R probably null Het
Rere G A 4: 150,594,451 (GRCm39) V354I unknown Het
Safb A G 17: 56,909,974 (GRCm39) probably benign Het
Slc2a10 C A 2: 165,359,597 (GRCm39) A487D possibly damaging Het
Slc7a12 T A 3: 14,564,383 (GRCm39) S85R possibly damaging Het
Sorbs3 G A 14: 70,432,958 (GRCm39) probably benign Het
Ttn A G 2: 76,600,135 (GRCm39) M19013T probably damaging Het
Utp4 A G 8: 107,621,330 (GRCm39) T36A probably benign Het
Vmn2r111 A T 17: 22,767,718 (GRCm39) F593Y probably benign Het
Other mutations in Cyp4f18
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00228:Cyp4f18 APN 8 72,743,771 (GRCm39) missense probably damaging 0.96
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
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
Posted On 2013-11-18