Incidental Mutation 'IGL02631:Cyp4f40'
ID 301321
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: 0.060) question?
Stock # IGL02631
Quality Score
Status
Chromosome 17
Chromosomal Location 32659410-32676687 bp(+) (GRCm38)
Type of Mutation splice site
DNA Base Change (assembly) A to T at 32675635 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000129536 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000165061]
AlphaFold G3UW81
Predicted Effect probably benign
Transcript: ENSMUST00000165061
SMART Domains Protein: ENSMUSP00000129536
Gene: ENSMUSG00000090700

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: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Atp2b2 A G 6: 113,748,545 S1242P probably damaging Het
Bglap A T 3: 88,383,680 Y81* probably null Het
Ccdc83 T C 7: 90,244,069 D160G possibly damaging Het
Cep97 A T 16: 55,922,178 C135* probably null Het
Cog1 C T 11: 113,656,478 Q633* probably null Het
Dennd2c T A 3: 103,156,071 M608K possibly damaging Het
Enpp1 A G 10: 24,641,961 S855P probably damaging Het
Eprs T C 1: 185,427,898 I1457T probably damaging Het
Fam149b G A 14: 20,375,546 V300M probably damaging Het
Fcgbp T A 7: 28,085,298 L261Q probably damaging Het
Flt1 G T 5: 147,673,574 S413* probably null Het
Flt3 T G 5: 147,344,552 D790A probably damaging Het
Gpat2 A G 2: 127,434,232 probably benign Het
Gpr151 T C 18: 42,578,770 K281R probably benign Het
Hoxa5 G A 6: 52,203,810 R181C probably damaging Het
Irx4 C T 13: 73,268,477 R331W probably damaging Het
Lmo2 T C 2: 103,981,087 I155T probably benign Het
Nbeal2 G A 9: 110,630,208 R1944C probably damaging Het
Obp2b A G 2: 25,739,243 N141S probably damaging Het
Olfr1257 T A 2: 89,881,255 V143E possibly damaging Het
Olfr140 T A 2: 90,051,442 N294I probably damaging Het
Papss2 T A 19: 32,634,004 probably benign Het
Rapgef2 A T 3: 79,083,226 M915K possibly damaging Het
Raver2 A C 4: 101,096,302 D89A probably damaging Het
Rnf123 G A 9: 108,068,302 R390* probably null Het
Setd2 A G 9: 110,550,576 D1153G possibly damaging Het
Slc25a12 C T 2: 71,296,742 G365E possibly damaging Het
Slc35e4 A C 11: 3,907,729 V292G probably damaging Het
Slc36a4 T C 9: 15,726,941 V221A probably damaging Het
Slc7a14 C A 3: 31,238,678 A153S probably damaging Het
Smc1b T C 15: 85,107,003 D658G probably damaging Het
Srrm1 G A 4: 135,325,104 P658L unknown Het
Tab3 A G X: 85,614,533 N222S probably benign Het
Tdrd6 T A 17: 43,626,219 T1313S probably damaging Het
Tnfrsf1b A T 4: 145,224,828 C181S probably damaging Het
Trdn A T 10: 33,363,976 probably null Het
Trip12 A T 1: 84,766,008 V526E possibly damaging Het
Trps1 T C 15: 50,846,021 D311G probably damaging Het
Ttf1 A G 2: 29,069,900 I507V probably damaging Het
Unc80 A C 1: 66,530,063 D959A probably damaging Het
Unc93b1 T C 19: 3,942,026 probably benign Het
Utrn A G 10: 12,710,063 F990S probably benign Het
V1rd19 T C 7: 24,003,400 L97P probably damaging 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
IGL02387:Cyp4f40 APN 17 32668010 missense probably damaging 1.00
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
R8324:Cyp4f40 UTSW 17 32659528 missense probably benign 0.35
R8711:Cyp4f40 UTSW 17 32675988 critical splice donor site probably benign
R8755:Cyp4f40 UTSW 17 32667983 nonsense probably null
R8913:Cyp4f40 UTSW 17 32667836 missense probably benign 0.05
R9013:Cyp4f40 UTSW 17 32671199 missense probably benign
R9548:Cyp4f40 UTSW 17 32671184 missense probably benign 0.01
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 On 2015-04-16