Incidental Mutation 'IGL02547:Cyp4f15'
ID297875
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cyp4f15
Ensembl Gene ENSMUSG00000073424
Gene Namecytochrome P450, family 4, subfamily f, polypeptide 15
Synonyms
Accession Numbers
Is this an essential gene? Possibly essential (E-score: 0.569) question?
Stock #IGL02547
Quality Score
Status
Chromosome17
Chromosomal Location32685627-32703352 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 32700255 bp
ZygosityHeterozygous
Amino Acid Change Arginine to Glycine at position 351 (R351G)
Ref Sequence ENSEMBL: ENSMUSP00000129264 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000008801] [ENSMUST00000168171]
Predicted Effect probably benign
Transcript: ENSMUST00000008801
AA Change: R351G

PolyPhen 2 Score 0.032 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000008801
Gene: ENSMUSG00000073424
AA Change: R351G

DomainStartEndE-ValueType
low complexity region 16 37 N/A INTRINSIC
Pfam:p450 57 520 8.4e-137 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000163907
Predicted Effect probably benign
Transcript: ENSMUST00000168171
AA Change: R351G

PolyPhen 2 Score 0.032 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000129264
Gene: ENSMUSG00000073424
AA Change: R351G

DomainStartEndE-ValueType
low complexity region 16 37 N/A INTRINSIC
Pfam:p450 57 527 3.2e-133 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, CYP4F8, 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 and functions as a 19-hydroxylase of prostaglandins in seminal vesicles. This gene is part of a cluster of cytochrome P450 genes on chromosome 19. Another member of this family, CYP4F3, is approximately 18 kb away. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
5430403G16Rik C T 5: 109,678,762 probably null Het
Akap6 T A 12: 53,140,696 L1631H probably damaging Het
Atf7ip T A 6: 136,603,276 probably benign Het
Atp5o A T 16: 91,928,961 Y48N probably damaging Het
Birc6 T G 17: 74,579,645 M656R probably benign Het
Camkk1 A G 11: 73,038,433 R455G probably benign Het
Casr A T 16: 36,515,674 M91K probably benign Het
Ccdc28a A T 10: 18,214,146 V124D possibly damaging Het
Ccnh T C 13: 85,202,504 probably benign Het
Cdc37 G T 9: 21,139,966 probably benign Het
Cdon A G 9: 35,478,654 D868G probably damaging Het
Dclk3 T C 9: 111,469,023 I545T probably damaging Het
Dock4 A G 12: 40,737,479 M798V probably benign Het
Gas7 A T 11: 67,665,435 Q200L probably damaging Het
Gm15448 T C 7: 3,821,661 D573G probably damaging Het
Gm4758 A T 16: 36,312,526 probably benign Het
Gm6614 A T 6: 141,990,390 L323Q probably damaging Het
Ica1 T C 6: 8,670,691 probably null Het
Idh3a T A 9: 54,592,395 V31D probably benign Het
Il3ra A T 14: 14,351,970 T247S probably benign Het
Itgb7 A G 15: 102,218,510 C497R probably damaging Het
Itm2c T C 1: 85,906,461 Y166H probably damaging Het
Mphosph8 A G 14: 56,672,484 D98G probably damaging Het
Mstn A T 1: 53,064,125 I207F probably benign Het
Muc15 A G 2: 110,731,305 R29G probably damaging Het
Neb T A 2: 52,188,730 T142S probably damaging Het
Nipbl G A 15: 8,351,598 T570I probably benign Het
Nr5a2 T A 1: 136,940,927 M196L probably benign Het
Nrp1 C A 8: 128,493,031 F643L probably benign Het
Olfr1098 A G 2: 86,923,028 F168S probably damaging Het
Olfr1441 A T 19: 12,422,311 M1L probably benign Het
Olfr600 A G 7: 103,346,244 F228S probably damaging Het
Olfr625-ps1 T C 7: 103,682,766 I16T probably benign Het
Osbpl9 C T 4: 109,068,483 W446* probably null Het
Pced1a T C 2: 130,419,707 D342G possibly damaging Het
Prkcd C A 14: 30,599,469 W555L probably damaging Het
Prpf31 T C 7: 3,630,899 S78P probably benign Het
Psg27 T C 7: 18,560,628 T285A probably benign Het
Retreg3 A T 11: 101,106,378 L92* probably null Het
Rmdn1 A G 4: 19,605,501 K282E possibly damaging Het
Sept8 G T 11: 53,537,265 R302L probably damaging Het
Serpina3a A G 12: 104,116,543 I192V probably damaging Het
Sgce T C 6: 4,711,301 probably benign Het
Spats1 A T 17: 45,474,817 probably benign Het
Tcerg1l C T 7: 138,248,371 probably null Het
Ttn A G 2: 76,729,386 V21230A probably damaging Het
Ubxn11 A C 4: 134,109,584 D41A possibly damaging Het
Vps13c T G 9: 67,908,019 I979S possibly damaging Het
Zc3h6 T A 2: 129,015,611 H683Q probably benign Het
Zfp518a G A 19: 40,914,617 G997R probably damaging Het
Zfp629 T C 7: 127,611,674 probably null Het
Other mutations in Cyp4f15
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01812:Cyp4f15 APN 17 32686157 missense probably benign 0.01
IGL01813:Cyp4f15 APN 17 32686157 missense probably benign 0.01
IGL02394:Cyp4f15 APN 17 32692635 missense possibly damaging 0.76
IGL02743:Cyp4f15 APN 17 32699952 missense possibly damaging 0.56
IGL03120:Cyp4f15 APN 17 32690764 missense probably damaging 0.97
IGL03124:Cyp4f15 APN 17 32685812 critical splice donor site probably null
IGL03342:Cyp4f15 APN 17 32697936 missense probably damaging 1.00
R2016:Cyp4f15 UTSW 17 32702159 missense probably damaging 1.00
R2892:Cyp4f15 UTSW 17 32686208 missense probably benign
R3812:Cyp4f15 UTSW 17 32686177 missense probably benign
R4803:Cyp4f15 UTSW 17 32692580 missense probably benign 0.00
R5180:Cyp4f15 UTSW 17 32690740 missense probably benign 0.21
R5199:Cyp4f15 UTSW 17 32702372 missense probably benign
R5787:Cyp4f15 UTSW 17 32702808 missense probably damaging 1.00
R6695:Cyp4f15 UTSW 17 32692612 nonsense probably null
Z1088:Cyp4f15 UTSW 17 32692690 splice site probably null
Posted On2015-04-16