Incidental Mutation 'IGL01813:Cyp4f15'
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ID278891
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 non essential (E-score: 0.463) question?
Stock #IGL01813
Quality Score
Status
Chromosome17
Chromosomal Location32685627-32703352 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 32686157 bp
ZygosityHeterozygous
Amino Acid Change Arginine to Histidine at position 38 (R38H)
Ref Sequence ENSEMBL: ENSMUSP00000129264 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000008801] [ENSMUST00000168171]
Predicted Effect probably benign
Transcript: ENSMUST00000008801
AA Change: R38H

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000008801
Gene: ENSMUSG00000073424
AA Change: R38H

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 noncoding transcript
Transcript: ENSMUST00000167789
Predicted Effect probably benign
Transcript: ENSMUST00000168171
AA Change: R38H

PolyPhen 2 Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000129264
Gene: ENSMUSG00000073424
AA Change: R38H

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: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4932438A13Rik G A 3: 36,928,520 S778N possibly damaging Het
Abcb11 T A 2: 69,287,592 probably benign Het
Adgrb2 T C 4: 130,012,566 V929A probably benign Het
Aldh2 T C 5: 121,572,073 I400V probably benign Het
Atxn2l T C 7: 126,500,253 D84G probably damaging Het
Avpr1a T A 10: 122,449,011 N69K probably damaging Het
BC022687 C T 12: 112,815,559 T272M probably damaging Het
BC034090 G A 1: 155,226,339 Q60* probably null Het
Bub3 T C 7: 131,568,633 S295P probably benign Het
Cacna1b T C 2: 24,609,890 S161G probably damaging Het
Col6a4 T A 9: 106,077,253 S296C probably damaging Het
Dync2h1 T C 9: 7,122,799 I2052M probably damaging Het
Gm11627 T C 11: 102,578,808 probably benign Het
Jmjd8 A T 17: 25,829,238 probably null Het
Kmt2c A G 5: 25,290,804 V629A possibly damaging Het
Kremen1 T C 11: 5,199,667 T335A probably benign Het
Olfr109 A G 17: 37,466,758 E184G probably damaging Het
Olfr282 A G 15: 98,437,649 Y60C possibly damaging Het
Oosp2 T C 19: 11,651,483 T85A probably benign Het
Pex5l T C 3: 33,082,055 E5G probably benign Het
Pigk A T 3: 152,742,519 Q173L probably damaging Het
Pik3c2g T A 6: 139,622,409 N174K possibly damaging Het
Plb1 C T 5: 32,329,085 H893Y probably damaging Het
Pus7 T C 5: 23,760,304 probably benign Het
R3hdm1 G A 1: 128,175,233 probably null Het
Samd7 C T 3: 30,754,286 P83S probably benign Het
Supt5 T A 7: 28,323,975 Y293F probably damaging Het
Tbc1d30 T C 10: 121,267,051 D692G probably benign Het
Tmpo G A 10: 91,163,242 R228C probably benign Het
Tnn A T 1: 160,088,438 H1236Q probably damaging Het
Ubr3 T C 2: 69,951,570 I667T probably benign Het
Vmn1r183 T A 7: 24,055,560 F263I probably benign Het
Other mutations in Cyp4f15
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01812:Cyp4f15 APN 17 32686157 missense probably benign 0.01
IGL02394:Cyp4f15 APN 17 32692635 missense possibly damaging 0.76
IGL02547:Cyp4f15 APN 17 32700255 missense probably benign 0.03
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
PIT4472001:Cyp4f15 UTSW 17 32702824 missense probably damaging 0.99
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