Incidental Mutation 'IGL01801:Cyp4f40'
ID155509
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: 0.067) question?
Stock #IGL01801
Quality Score
Status
Chromosome17
Chromosomal Location32659410-32676687 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 32676305 bp
ZygosityHeterozygous
Amino Acid Change Asparagine to Isoleucine at position 467 (N467I)
Ref Sequence ENSEMBL: ENSMUSP00000129536 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000165061]
Predicted Effect probably damaging
Transcript: ENSMUST00000165061
AA Change: N467I

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000129536
Gene: ENSMUSG00000090700
AA Change: N467I

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: 25 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4932415M13Rik C T 17: 53,724,842 noncoding transcript Het
Acsm4 C T 7: 119,707,263 T308I possibly damaging Het
Adamtsl1 A G 4: 86,199,322 N174S probably benign Het
Atp1b1 C T 1: 164,438,349 G281D probably damaging Het
Cacna1e T C 1: 154,471,340 N1027S probably null Het
Cacnb4 A T 2: 52,434,711 N446K probably benign Het
Ccdc173 A T 2: 69,776,279 probably benign Het
Col13a1 T C 10: 61,843,614 D215G probably damaging Het
Cyp2d22 T C 15: 82,372,845 T312A probably benign Het
Ehd4 A T 2: 120,102,341 D201E probably damaging Het
Farsb T C 1: 78,458,579 T444A probably benign Het
Gabra6 A C 11: 42,315,108 I307R probably damaging Het
Impg2 G A 16: 56,236,748 R287H probably damaging Het
Khdrbs1 A G 4: 129,741,781 V127A probably benign Het
Lcp1 A T 14: 75,199,375 T54S probably benign Het
Mrgpra6 T C 7: 47,185,824 D283G possibly damaging Het
Mterf4 T C 1: 93,304,920 R70G probably benign Het
Mtmr12 T C 15: 12,269,959 L711P probably damaging Het
Olfr732 A G 14: 50,282,208 I15T probably benign Het
Pax8 A G 2: 24,444,564 probably null Het
Prmt9 T C 8: 77,562,440 V257A probably damaging Het
Sspo T C 6: 48,457,138 V959A probably damaging Het
Vps54 T C 11: 21,275,131 probably null Het
Wdr70 C T 15: 7,887,324 probably null Het
Wdr92 T C 11: 17,219,015 I62T 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
IGL01960:Cyp4f40 APN 17 32659561 missense probably benign 0.25
IGL02387:Cyp4f40 APN 17 32668010 missense probably damaging 1.00
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
R7792:Cyp4f40 UTSW 17 32671169 missense probably damaging 1.00
Z1088:Cyp4f40 UTSW 17 32674002 splice site probably null
Z1177:Cyp4f40 UTSW 17 32671159 missense probably benign 0.04
Z1177:Cyp4f40 UTSW 17 32676449 missense probably damaging 0.98
Posted On2014-02-04