Incidental Mutation 'IGL02387:Cyp4f40'
ID 291581
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cyp4f40
Ensembl Gene ENSMUSG00000090700
Gene Name cytochrome P450, family 4, subfamily f, polypeptide 40
Synonyms EG631304
Accession Numbers
Essential gene? Probably non essential (E-score: 0.059) question?
Stock # IGL02387
Quality Score
Status
Chromosome 17
Chromosomal Location 32877874-32895888 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 32886984 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Proline at position 152 (T152P)
Ref Sequence ENSEMBL: ENSMUSP00000129536 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000165061]
AlphaFold G3UW81
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: 109,969,641 (GRCm39) probably benign Het
Acap3 T G 4: 155,986,617 (GRCm39) L311R probably damaging Het
Actr6 T A 10: 89,550,846 (GRCm39) N316I probably damaging Het
Adarb2 T A 13: 8,619,994 (GRCm39) V160E probably damaging Het
Atm A T 9: 53,391,066 (GRCm39) probably null Het
Atp2b4 T C 1: 133,659,627 (GRCm39) N445S probably damaging Het
Clic6 A G 16: 92,326,807 (GRCm39) D464G probably damaging Het
Clk2 C T 3: 89,083,698 (GRCm39) probably benign Het
Dpp8 A T 9: 64,952,998 (GRCm39) I225F probably damaging Het
Dspp A G 5: 104,323,490 (GRCm39) Q211R possibly damaging Het
Gja1 T A 10: 56,263,902 (GRCm39) V87E possibly damaging Het
Gm8165 T C 14: 43,913,696 (GRCm39) E56G possibly damaging Het
Gstp2 T A 19: 4,091,094 (GRCm39) probably benign Het
Gucy2e A G 11: 69,126,942 (GRCm39) V177A probably benign Het
Insrr G A 3: 87,720,434 (GRCm39) R1024H probably damaging Het
Iqgap2 A G 13: 95,826,209 (GRCm39) W538R probably benign Het
Lrrc71 T C 3: 87,650,378 (GRCm39) I232V probably damaging Het
Mphosph8 T A 14: 56,933,178 (GRCm39) N808K probably damaging Het
Or8h10 T A 2: 86,808,193 (GRCm39) R316* probably null Het
Pak6 T C 2: 118,523,714 (GRCm39) S290P probably benign Het
Ptpro C T 6: 137,387,978 (GRCm39) A734V probably damaging Het
Reg1 A T 6: 78,404,321 (GRCm39) N65I probably damaging Het
Rnf17 T G 14: 56,738,044 (GRCm39) I1275S probably damaging Het
Sfrp5 C T 19: 42,187,468 (GRCm39) V201I probably benign Het
Sgsm1 T A 5: 113,400,929 (GRCm39) H987L possibly damaging Het
Shank1 A T 7: 44,006,361 (GRCm39) Y2026F possibly damaging Het
Slc15a2 T C 16: 36,572,137 (GRCm39) probably null Het
Srrm1 G A 4: 135,052,415 (GRCm39) P658L unknown Het
Taar8a T A 10: 23,953,260 (GRCm39) I288N possibly damaging Het
Tpbpb T G 13: 61,049,668 (GRCm39) *121C probably null Het
Trim29 A T 9: 43,236,149 (GRCm39) N460I probably benign Het
Trp53tg5 T A 2: 164,313,376 (GRCm39) I100F possibly damaging Het
Ubr2 T C 17: 47,274,076 (GRCm39) T871A probably benign Het
Vrk1 A G 12: 106,036,803 (GRCm39) E363G probably damaging Het
Zfyve19 C T 2: 119,046,907 (GRCm39) probably benign Het
Other mutations in Cyp4f40
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01299:Cyp4f40 APN 17 32,886,948 (GRCm39) missense probably benign 0.00
IGL01563:Cyp4f40 APN 17 32,892,930 (GRCm39) missense probably damaging 0.99
IGL01801:Cyp4f40 APN 17 32,895,279 (GRCm39) missense probably damaging 1.00
IGL01960:Cyp4f40 APN 17 32,878,535 (GRCm39) missense probably benign 0.25
IGL02631:Cyp4f40 APN 17 32,894,609 (GRCm39) splice site probably benign
IGL02967:Cyp4f40 APN 17 32,893,222 (GRCm39) missense probably damaging 1.00
R0030:Cyp4f40 UTSW 17 32,894,947 (GRCm39) missense probably damaging 1.00
R0103:Cyp4f40 UTSW 17 32,895,283 (GRCm39) nonsense probably null
R0103:Cyp4f40 UTSW 17 32,895,282 (GRCm39) missense probably damaging 1.00
R0180:Cyp4f40 UTSW 17 32,878,641 (GRCm39) missense probably benign 0.00
R1413:Cyp4f40 UTSW 17 32,892,913 (GRCm39) missense probably benign 0.35
R2882:Cyp4f40 UTSW 17 32,887,047 (GRCm39) missense probably benign 0.05
R3903:Cyp4f40 UTSW 17 32,878,598 (GRCm39) missense possibly damaging 0.51
R4378:Cyp4f40 UTSW 17 32,887,003 (GRCm39) missense probably null 0.44
R4465:Cyp4f40 UTSW 17 32,890,186 (GRCm39) missense probably benign 0.00
R4808:Cyp4f40 UTSW 17 32,893,249 (GRCm39) missense probably benign 0.23
R5377:Cyp4f40 UTSW 17 32,894,590 (GRCm39) missense probably null 0.61
R5395:Cyp4f40 UTSW 17 32,888,827 (GRCm39) missense probably benign 0.01
R5523:Cyp4f40 UTSW 17 32,888,796 (GRCm39) missense probably damaging 0.98
R5889:Cyp4f40 UTSW 17 32,894,731 (GRCm39) missense probably benign 0.15
R6624:Cyp4f40 UTSW 17 32,890,154 (GRCm39) missense possibly damaging 0.82
R6692:Cyp4f40 UTSW 17 32,894,716 (GRCm39) missense possibly damaging 0.48
R6859:Cyp4f40 UTSW 17 32,894,923 (GRCm39) missense probably benign 0.19
R7792:Cyp4f40 UTSW 17 32,890,143 (GRCm39) missense probably damaging 1.00
R8324:Cyp4f40 UTSW 17 32,878,502 (GRCm39) missense probably benign 0.35
R8711:Cyp4f40 UTSW 17 32,894,962 (GRCm39) critical splice donor site probably benign
R8755:Cyp4f40 UTSW 17 32,886,957 (GRCm39) nonsense probably null
R8913:Cyp4f40 UTSW 17 32,886,810 (GRCm39) missense probably benign 0.05
R9013:Cyp4f40 UTSW 17 32,890,173 (GRCm39) missense probably benign
R9548:Cyp4f40 UTSW 17 32,890,158 (GRCm39) missense probably benign 0.01
Z1088:Cyp4f40 UTSW 17 32,892,976 (GRCm39) splice site probably null
Z1177:Cyp4f40 UTSW 17 32,895,423 (GRCm39) missense probably damaging 0.98
Z1177:Cyp4f40 UTSW 17 32,890,133 (GRCm39) missense probably benign 0.04
Posted On 2015-04-16