Incidental Mutation 'R0721:Cyp4f18'
ID 63540
Institutional Source Beutler Lab
Gene Symbol Cyp4f18
Ensembl Gene ENSMUSG00000003484
Gene Name cytochrome P450, family 4, subfamily f, polypeptide 18
Synonyms 1810054N16Rik
MMRRC Submission 038903-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0721 (G1)
Quality Score 115
Status Not validated
Chromosome 8
Chromosomal Location 72742326-72763470 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 72754979 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 117 (V117A)
Ref Sequence ENSEMBL: ENSMUSP00000003574 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000003574]
AlphaFold Q99N16
Predicted Effect probably benign
Transcript: ENSMUST00000003574
AA Change: V117A

PolyPhen 2 Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000003574
Gene: ENSMUSG00000003484
AA Change: V117A

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
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.0%
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: 5 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ccdc110 A T 8: 46,395,026 (GRCm39) M306L probably benign Het
Glmp G T 3: 88,233,452 (GRCm39) E136* probably null Het
Myrf C T 19: 10,193,444 (GRCm39) V773M probably damaging Het
Plb1 T A 5: 32,521,539 (GRCm39) S1463R unknown Het
Tmcc1 C CAT 6: 116,019,831 (GRCm39) probably null 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
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
Predicted Primers PCR Primer
(F):5'- TACTCATCAAGAGGCCATCCCCTG -3'
(R):5'- TCAGTCATGTTAGCCAATGCGTGTC -3'

Sequencing Primer
(F):5'- CCCTGATGGAACAGCATGG -3'
(R):5'- TGCTGTACTCAGCAAGGTAAAC -3'
Posted On 2013-07-30