Incidental Mutation 'IGL02465:Cyp4f13'
ID294570
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 #IGL02465
Quality Score
Status
Chromosome17
Chromosomal Location32924688-32947402 bp(-) (GRCm38)
Type of Mutationcritical splice donor site (2 bp from exon)
DNA Base Change (assembly) A to T at 32929136 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000123282 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000075253] [ENSMUST00000137222] [ENSMUST00000139353] [ENSMUST00000141325] [ENSMUST00000145683]
Predicted Effect probably null
Transcript: ENSMUST00000075253
SMART Domains Protein: ENSMUSP00000074733
Gene: ENSMUSG00000024055

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 null
Transcript: ENSMUST00000139353
SMART Domains Protein: ENSMUSP00000123282
Gene: ENSMUSG00000024055

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: 31 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adcy3 A G 12: 4,200,906 D555G probably benign Het
Anks1b T A 10: 90,163,265 C411* probably null Het
Atp5j A T 16: 84,828,470 Y82N probably damaging Het
Cd19 A T 7: 126,413,558 V221D possibly damaging Het
Cdc45 C T 16: 18,798,729 M200I probably benign Het
Ddrgk1 T C 2: 130,654,709 D245G probably damaging Het
Eya2 A G 2: 165,715,952 D156G possibly damaging Het
Gm42763 T C 9: 110,545,297 probably benign Het
Gtdc1 T C 2: 44,570,423 Y417C probably damaging Het
Map1b T C 13: 99,433,406 T936A unknown Het
Med23 G A 10: 24,903,743 R906K probably damaging Het
Mill2 G A 7: 18,858,243 W263* probably null Het
Mup20 T C 4: 62,052,000 N107D possibly damaging Het
Neb A G 2: 52,193,165 probably benign Het
Ntrk2 A G 13: 59,060,380 N680S probably damaging Het
Olfr102 A C 17: 37,313,911 S158A probably damaging Het
Olfr459 C T 6: 41,771,556 V248I probably damaging Het
Pde3a A G 6: 141,249,675 H29R possibly damaging Het
Pik3c3 T C 18: 30,344,060 I878T probably damaging Het
Plxnd1 A G 6: 115,955,742 *1926R probably null Het
Prl8a9 T A 13: 27,559,449 L124F probably damaging Het
Proser3 A T 7: 30,543,533 N206K possibly damaging Het
Rasef G T 4: 73,734,488 T439N probably damaging Het
Slc6a18 T C 13: 73,677,785 T49A probably benign Het
Spag17 A C 3: 100,075,871 T1496P probably damaging Het
Vmn1r63 A C 7: 5,803,039 V198G probably damaging Het
Vmn2r112 T C 17: 22,614,994 S548P probably damaging Het
Vps13a T C 19: 16,710,941 D834G probably benign Het
Vps8 A T 16: 21,521,903 N799I probably damaging Het
Zfhx4 A G 3: 5,399,603 H1632R possibly damaging Het
Zp1 T A 19: 10,920,487 E30V probably benign Het
Other mutations in Cyp4f13
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00836:Cyp4f13 APN 17 32941164 missense probably benign 0.00
IGL01835:Cyp4f13 APN 17 32930614 missense probably benign 0.39
IGL02234:Cyp4f13 APN 17 32924774 utr 3 prime probably benign
IGL02437:Cyp4f13 APN 17 32930608 missense probably benign 0.12
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 On2015-04-16