Incidental Mutation 'IGL02387:Cyp4f40'
ID291581
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cyp4f40
Ensembl Gene ENSMUSG00000090700
Gene Namecytochrome P450, family 4, subfamily f, polypeptide 40
SynonymsEG631304
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.073) question?
Stock #IGL02387
Quality Score
Status
Chromosome17
Chromosomal Location32659410-32676687 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to C at 32668010 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Proline at position 152 (T152P)
Ref Sequence ENSEMBL: ENSMUSP00000129536 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000165061]
Predicted Effect probably damaging
Transcript: ENSMUST00000165061
AA Change: T152P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000129536
Gene: ENSMUSG00000090700
AA Change: T152P

DomainStartEndE-ValueType
transmembrane domain 7 29 N/A INTRINSIC
Pfam:p450 52 515 2.2e-130 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, CYP4F11, 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 gene is part of a cluster of cytochrome P450 genes on chromosome 19. Another member of this family, CYP4F2, is approximately 16 kb away. Alternatively spliced transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca8a A G 11: 110,078,815 probably benign Het
Acap3 T G 4: 155,902,160 L311R probably damaging Het
Actr6 T A 10: 89,714,984 N316I probably damaging Het
Adarb2 T A 13: 8,569,958 V160E probably damaging Het
Atm A T 9: 53,479,766 probably null Het
Atp2b4 T C 1: 133,731,889 N445S probably damaging Het
Clic6 A G 16: 92,529,919 D464G probably damaging Het
Clk2 C T 3: 89,176,391 probably benign Het
Dpp8 A T 9: 65,045,716 I225F probably damaging Het
Dspp A G 5: 104,175,624 Q211R possibly damaging Het
Gja1 T A 10: 56,387,806 V87E possibly damaging Het
Gm8165 T C 14: 43,676,239 E56G possibly damaging Het
Gstp2 T A 19: 4,041,094 probably benign Het
Gucy2e A G 11: 69,236,116 V177A probably benign Het
Insrr G A 3: 87,813,127 R1024H probably damaging Het
Iqgap2 A G 13: 95,689,701 W538R probably benign Het
Lrrc71 T C 3: 87,743,071 I232V probably damaging Het
Mphosph8 T A 14: 56,695,721 N808K probably damaging Het
Olfr1100 T A 2: 86,977,849 R316* probably null Het
Pak6 T C 2: 118,693,233 S290P probably benign Het
Ptpro C T 6: 137,410,980 A734V probably damaging Het
Reg1 A T 6: 78,427,338 N65I probably damaging Het
Rnf17 T G 14: 56,500,587 I1275S probably damaging Het
Sfrp5 C T 19: 42,199,029 V201I probably benign Het
Sgsm1 T A 5: 113,253,063 H987L possibly damaging Het
Shank1 A T 7: 44,356,937 Y2026F possibly damaging Het
Slc15a2 T C 16: 36,751,775 probably null Het
Srrm1 G A 4: 135,325,104 P658L unknown Het
Taar8a T A 10: 24,077,362 I288N possibly damaging Het
Tpbpb T G 13: 60,901,854 *121C probably null Het
Trim29 A T 9: 43,324,852 N460I probably benign Het
Trp53tg5 T A 2: 164,471,456 I100F possibly damaging Het
Ubr2 T C 17: 46,963,150 T871A probably benign Het
Vrk1 A G 12: 106,070,544 E363G probably damaging Het
Zfyve19 C T 2: 119,216,426 probably benign Het
Other mutations in Cyp4f40
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01299:Cyp4f40 APN 17 32667974 missense probably benign 0.00
IGL01563:Cyp4f40 APN 17 32673956 missense probably damaging 0.99
IGL01801:Cyp4f40 APN 17 32676305 missense probably damaging 1.00
IGL01960:Cyp4f40 APN 17 32659561 missense probably benign 0.25
IGL02631:Cyp4f40 APN 17 32675635 splice site probably benign
IGL02967:Cyp4f40 APN 17 32674248 missense probably damaging 1.00
R0030:Cyp4f40 UTSW 17 32675973 missense probably damaging 1.00
R0103:Cyp4f40 UTSW 17 32676308 missense probably damaging 1.00
R0103:Cyp4f40 UTSW 17 32676309 nonsense probably null
R0180:Cyp4f40 UTSW 17 32659667 missense probably benign 0.00
R1413:Cyp4f40 UTSW 17 32673939 missense probably benign 0.35
R2882:Cyp4f40 UTSW 17 32668073 missense probably benign 0.05
R3903:Cyp4f40 UTSW 17 32659624 missense possibly damaging 0.51
R4378:Cyp4f40 UTSW 17 32668029 missense probably null 0.44
R4465:Cyp4f40 UTSW 17 32671212 missense probably benign 0.00
R4808:Cyp4f40 UTSW 17 32674275 missense probably benign 0.23
R5377:Cyp4f40 UTSW 17 32675616 missense probably null 0.61
R5395:Cyp4f40 UTSW 17 32669853 missense probably benign 0.01
R5523:Cyp4f40 UTSW 17 32669822 missense probably damaging 0.98
R5889:Cyp4f40 UTSW 17 32675757 missense probably benign 0.15
R6624:Cyp4f40 UTSW 17 32671180 missense possibly damaging 0.82
R6692:Cyp4f40 UTSW 17 32675742 missense possibly damaging 0.48
R6859:Cyp4f40 UTSW 17 32675949 missense probably benign 0.19
Z1088:Cyp4f40 UTSW 17 32674002 splice site probably null
Posted On2015-04-16