|Institutional Source||Beutler Lab|
|Gene Name||cytochrome P450, family 4, subfamily f, polypeptide 18|
|Is this an essential gene?||Non essential (E-score: 0.000)|
|Stock #||R5086 (G1)|
|Chromosomal Location||71988482-72009626 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||C to T at 72002432 bp|
|Amino Acid Change||Arginine to Histidine at position 100 (R100H)|
|Ref Sequence||ENSEMBL: ENSMUSP00000003574 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000003574]|
|Predicted Effect||probably benign
AA Change: R100H
PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
AA Change: R100H
|Meta Mutation Damage Score||0.0629|
|Coding Region Coverage||
|Validation Efficiency||99% (80/81)|
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||
|Other mutations in Cyp4f18||
(F):5'- GGTCCACACACCAGAAAGATGG -3'
(R):5'- GCTCAGTGCTGTGGATGAATTC -3'
(F):5'- TGCTCTAAACAGGTGCCACATG -3'
(R):5'- GATGAATTCCTGGAACTCCTGTGAC -3'