Incidental Mutation 'IGL02547:Cyp4f15'
ID 297875
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cyp4f15
Ensembl Gene ENSMUSG00000073424
Gene Name cytochrome P450, family 4, subfamily f, polypeptide 15
Synonyms
Accession Numbers
Essential gene? Possibly essential (E-score: 0.633) question?
Stock # IGL02547
Quality Score
Status
Chromosome 17
Chromosomal Location 32904605-32922329 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 32919229 bp (GRCm39)
Zygosity Heterozygous
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]
AlphaFold Q99N18
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
Akap6 T A 12: 53,187,479 (GRCm39) L1631H probably damaging Het
Atf7ip T A 6: 136,580,274 (GRCm39) probably benign Het
Atp5po A T 16: 91,725,849 (GRCm39) Y48N probably damaging Het
Birc6 T G 17: 74,886,640 (GRCm39) M656R probably benign Het
Camkk1 A G 11: 72,929,259 (GRCm39) R455G probably benign Het
Casr A T 16: 36,336,036 (GRCm39) M91K probably benign Het
Ccdc28a A T 10: 18,089,894 (GRCm39) V124D possibly damaging Het
Ccnh T C 13: 85,350,623 (GRCm39) probably benign Het
Cdc37 G T 9: 21,051,262 (GRCm39) probably benign Het
Cdon A G 9: 35,389,950 (GRCm39) D868G probably damaging Het
Cstdc3 A T 16: 36,132,888 (GRCm39) probably benign Het
Dclk3 T C 9: 111,298,091 (GRCm39) I545T probably damaging Het
Dock4 A G 12: 40,787,478 (GRCm39) M798V probably benign Het
Gas7 A T 11: 67,556,261 (GRCm39) Q200L probably damaging Het
Ica1 T C 6: 8,670,691 (GRCm39) probably null Het
Idh3a T A 9: 54,499,679 (GRCm39) V31D probably benign Het
Il3ra A T 14: 14,351,970 (GRCm38) T247S probably benign Het
Itgb7 A G 15: 102,126,945 (GRCm39) C497R probably damaging Het
Itm2c T C 1: 85,834,182 (GRCm39) Y166H probably damaging Het
Mphosph8 A G 14: 56,909,941 (GRCm39) D98G probably damaging Het
Mstn A T 1: 53,103,284 (GRCm39) I207F probably benign Het
Muc15 A G 2: 110,561,650 (GRCm39) R29G probably damaging Het
Neb T A 2: 52,078,742 (GRCm39) T142S probably damaging Het
Nipbl G A 15: 8,381,082 (GRCm39) T570I probably benign Het
Nr5a2 T A 1: 136,868,665 (GRCm39) M196L probably benign Het
Nrp1 C A 8: 129,219,512 (GRCm39) F643L probably benign Het
Or52ad1 A G 7: 102,995,451 (GRCm39) F228S probably damaging Het
Or52z15 T C 7: 103,331,973 (GRCm39) I16T probably benign Het
Or5a3 A T 19: 12,399,675 (GRCm39) M1L probably benign Het
Or8h8 A G 2: 86,753,372 (GRCm39) F168S probably damaging Het
Osbpl9 C T 4: 108,925,680 (GRCm39) W446* probably null Het
Pced1a T C 2: 130,261,627 (GRCm39) D342G possibly damaging Het
Pira13 T C 7: 3,824,660 (GRCm39) D573G probably damaging Het
Prkcd C A 14: 30,321,426 (GRCm39) W555L probably damaging Het
Prpf31 T C 7: 3,633,898 (GRCm39) S78P probably benign Het
Psg27 T C 7: 18,294,553 (GRCm39) T285A probably benign Het
Retreg3 A T 11: 100,997,204 (GRCm39) L92* probably null Het
Rmdn1 A G 4: 19,605,501 (GRCm39) K282E possibly damaging Het
Septin8 G T 11: 53,428,092 (GRCm39) R302L probably damaging Het
Serpina3a A G 12: 104,082,802 (GRCm39) I192V probably damaging Het
Sgce T C 6: 4,711,301 (GRCm39) probably benign Het
Slco1a8 A T 6: 141,936,116 (GRCm39) L323Q probably damaging Het
Spats1 A T 17: 45,785,743 (GRCm39) probably benign Het
Tcerg1l C T 7: 137,850,100 (GRCm39) probably null Het
Ttn A G 2: 76,559,730 (GRCm39) V21230A probably damaging Het
Ubxn11 A C 4: 133,836,895 (GRCm39) D41A possibly damaging Het
Vps13c T G 9: 67,815,301 (GRCm39) I979S possibly damaging Het
Zc3h6 T A 2: 128,857,531 (GRCm39) H683Q probably benign Het
Zfp1007 C T 5: 109,826,628 (GRCm39) probably null Het
Zfp518a G A 19: 40,903,061 (GRCm39) G997R probably damaging Het
Zfp629 T C 7: 127,210,846 (GRCm39) probably null Het
Other mutations in Cyp4f15
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01812:Cyp4f15 APN 17 32,905,131 (GRCm39) missense probably benign 0.01
IGL01813:Cyp4f15 APN 17 32,905,131 (GRCm39) missense probably benign 0.01
IGL02394:Cyp4f15 APN 17 32,911,609 (GRCm39) missense possibly damaging 0.76
IGL02743:Cyp4f15 APN 17 32,918,926 (GRCm39) missense possibly damaging 0.56
IGL03120:Cyp4f15 APN 17 32,909,738 (GRCm39) missense probably damaging 0.97
IGL03124:Cyp4f15 APN 17 32,904,786 (GRCm39) critical splice donor site probably null
IGL03342:Cyp4f15 APN 17 32,916,910 (GRCm39) missense probably damaging 1.00
PIT4472001:Cyp4f15 UTSW 17 32,921,798 (GRCm39) missense probably damaging 0.99
R2016:Cyp4f15 UTSW 17 32,921,133 (GRCm39) missense probably damaging 1.00
R2892:Cyp4f15 UTSW 17 32,905,182 (GRCm39) missense probably benign
R3812:Cyp4f15 UTSW 17 32,905,151 (GRCm39) missense probably benign
R4803:Cyp4f15 UTSW 17 32,911,554 (GRCm39) missense probably benign 0.00
R5180:Cyp4f15 UTSW 17 32,909,714 (GRCm39) missense probably benign 0.21
R5199:Cyp4f15 UTSW 17 32,921,346 (GRCm39) missense probably benign
R5787:Cyp4f15 UTSW 17 32,921,782 (GRCm39) missense probably damaging 1.00
R6695:Cyp4f15 UTSW 17 32,911,586 (GRCm39) nonsense probably null
R8311:Cyp4f15 UTSW 17 32,916,914 (GRCm39) missense probably benign 0.06
R8342:Cyp4f15 UTSW 17 32,909,733 (GRCm39) missense possibly damaging 0.94
R8369:Cyp4f15 UTSW 17 32,916,939 (GRCm39) missense probably benign 0.03
R8488:Cyp4f15 UTSW 17 32,920,948 (GRCm39) missense probably benign 0.01
R8503:Cyp4f15 UTSW 17 32,914,338 (GRCm39) missense probably damaging 0.99
R8778:Cyp4f15 UTSW 17 32,921,378 (GRCm39) missense probably damaging 1.00
R9052:Cyp4f15 UTSW 17 32,911,589 (GRCm39) missense probably damaging 1.00
R9179:Cyp4f15 UTSW 17 32,919,185 (GRCm39) missense possibly damaging 0.95
R9183:Cyp4f15 UTSW 17 32,919,205 (GRCm39) missense probably damaging 1.00
R9311:Cyp4f15 UTSW 17 32,905,139 (GRCm39) missense probably benign
Z1088:Cyp4f15 UTSW 17 32,911,664 (GRCm39) splice site probably null
Posted On 2015-04-16