Incidental Mutation 'IGL01835:Cyp4f13'
ID154936
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cyp4f13
Ensembl Gene ENSMUSG00000024055
Gene Namecytochrome P450, family 4, subfamily f, polypeptide 13
Synonyms0610030I10Rik, P450 CYP4F13, leukotriene B4 omega hydroxylase
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.083) question?
Stock #IGL01835
Quality Score
Status
Chromosome17
Chromosomal Location32924688-32947402 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 32930614 bp
ZygosityHeterozygous
Amino Acid Change Phenylalanine to Leucine at position 83 (F83L)
Ref Sequence ENSEMBL: ENSMUSP00000123282 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000075253] [ENSMUST00000137222] [ENSMUST00000139353] [ENSMUST00000141325] [ENSMUST00000145683]
Predicted Effect probably benign
Transcript: ENSMUST00000075253
AA Change: F192L

PolyPhen 2 Score 0.042 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000074733
Gene: ENSMUSG00000024055
AA Change: F192L

DomainStartEndE-ValueType
transmembrane domain 20 42 N/A INTRINSIC
Pfam:p450 52 514 1.9e-130 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000123653
Predicted Effect probably benign
Transcript: ENSMUST00000137222
SMART Domains Protein: ENSMUSP00000123495
Gene: ENSMUSG00000024055

DomainStartEndE-ValueType
transmembrane domain 20 42 N/A INTRINSIC
SCOP:d1e9xa_ 48 115 1e-4 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000139353
AA Change: F83L

PolyPhen 2 Score 0.390 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000123282
Gene: ENSMUSG00000024055
AA Change: F83L

DomainStartEndE-ValueType
transmembrane domain 20 42 N/A INTRINSIC
Pfam:p450 60 405 7.8e-108 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000141325
SMART Domains Protein: ENSMUSP00000117168
Gene: ENSMUSG00000024055

DomainStartEndE-ValueType
transmembrane domain 20 42 N/A INTRINSIC
SCOP:d1e9xa_ 48 115 1e-4 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000145683
SMART Domains Protein: ENSMUSP00000118919
Gene: ENSMUSG00000024055

DomainStartEndE-ValueType
transmembrane domain 20 42 N/A INTRINSIC
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, CYP4F3, 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. The enzyme starts the process of inactivating and degrading leukotriene B4, a potent mediator of inflammation. This gene is part of a cluster of cytochrome P450 genes on chromosome 19. Another member of this family, CYP4F8, is approximately 18 kb away. Three transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Nov 2010]
Allele List at MGI
Other mutations in this stock
Total: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2700049A03Rik T A 12: 71,167,181 Y727* probably null Het
2700049A03Rik T A 12: 71,167,183 M728K probably benign Het
Adam23 T C 1: 63,543,119 Y309H probably damaging Het
Ash2l C T 8: 25,839,840 V97M probably damaging Het
Dnah6 A T 6: 73,135,801 S1607T probably damaging Het
Dock2 T A 11: 34,310,435 M969L possibly damaging Het
Dse T A 10: 34,160,217 probably benign Het
Dusp22 C T 13: 30,708,683 probably null Het
F5 G A 1: 164,194,368 V1471I probably benign Het
Gm14403 A T 2: 177,507,256 E48D probably damaging Het
Gm6309 G A 5: 146,168,275 A276V probably damaging Het
Icam4 A T 9: 21,029,790 T113S probably damaging Het
Ipo5 T C 14: 120,926,238 V236A probably benign Het
Mrc2 T G 11: 105,336,677 F579V probably damaging Het
Myl4 T A 11: 104,577,453 M1K probably null Het
Oas3 A T 5: 120,766,128 C560* probably null Het
Olfr225 T C 11: 59,613,339 V125A probably damaging Het
Olfr670 T C 7: 104,960,462 N90S probably benign Het
Prlr G A 15: 10,329,043 V535I probably damaging Het
Ptprd T C 4: 76,246,821 T48A probably benign Het
Rasa4 A G 5: 136,102,607 H485R possibly damaging Het
Rnf13 A T 3: 57,820,586 H229L probably damaging Het
Rpap3 T C 15: 97,703,239 D39G possibly damaging Het
Sec23ip T A 7: 128,755,311 probably null Het
Sirpa T A 2: 129,615,564 F186Y possibly damaging Het
Slc26a11 T C 11: 119,377,214 Y473H probably benign Het
Slc36a2 T C 11: 55,162,733 I360V probably benign Het
Spg11 G A 2: 122,088,224 R975C probably benign Het
Sppl2b T A 10: 80,865,341 I350N probably damaging Het
Tas2r139 A T 6: 42,141,432 N166I probably benign Het
Trav14n-3 A G 14: 53,370,329 T39A possibly damaging Het
Vmn2r61 A G 7: 42,300,591 M812V probably benign Het
Vmn2r87 A C 10: 130,479,109 F203V probably damaging Het
Vwde A C 6: 13,186,824 V888G probably benign Het
Zbtb17 T C 4: 141,465,438 probably null Het
Other mutations in Cyp4f13
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00836:Cyp4f13 APN 17 32941164 missense probably benign 0.00
IGL02234:Cyp4f13 APN 17 32924774 utr 3 prime probably benign
IGL02437:Cyp4f13 APN 17 32930608 missense probably benign 0.12
IGL02465:Cyp4f13 APN 17 32929136 critical splice donor site probably null
IGL02604:Cyp4f13 APN 17 32932421 missense probably benign 0.01
IGL02934:Cyp4f13 APN 17 32929871 missense probably damaging 1.00
IGL03177:Cyp4f13 APN 17 32946914 missense possibly damaging 0.88
R0117:Cyp4f13 UTSW 17 32930606 missense probably damaging 0.98
R0138:Cyp4f13 UTSW 17 32941106 missense possibly damaging 0.63
R0220:Cyp4f13 UTSW 17 32929502 missense probably damaging 1.00
R0243:Cyp4f13 UTSW 17 32924969 splice site probably benign
R0357:Cyp4f13 UTSW 17 32932651 nonsense probably null
R1078:Cyp4f13 UTSW 17 32925568 missense probably damaging 1.00
R1757:Cyp4f13 UTSW 17 32929958 missense probably damaging 1.00
R1990:Cyp4f13 UTSW 17 32925568 missense probably damaging 1.00
R2351:Cyp4f13 UTSW 17 32925596 missense probably benign 0.01
R4704:Cyp4f13 UTSW 17 32925735 missense probably damaging 1.00
R4865:Cyp4f13 UTSW 17 32925704 missense probably damaging 1.00
R5004:Cyp4f13 UTSW 17 32925786 missense probably benign 0.39
R5310:Cyp4f13 UTSW 17 32925821 missense probably damaging 1.00
R5574:Cyp4f13 UTSW 17 32929205 missense probably benign 0.39
R5996:Cyp4f13 UTSW 17 32929473 missense possibly damaging 0.87
R6190:Cyp4f13 UTSW 17 32929873 missense probably damaging 1.00
R8254:Cyp4f13 UTSW 17 32929933 missense probably benign 0.04
R8495:Cyp4f13 UTSW 17 32924859 missense probably damaging 1.00
R8496:Cyp4f13 UTSW 17 32924859 missense probably damaging 1.00
R8498:Cyp4f13 UTSW 17 32924859 missense probably damaging 1.00
Posted On2014-02-04