Incidental Mutation 'IGL02934:Cyp4f13'
ID 364217
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cyp4f13
Ensembl Gene ENSMUSG00000024055
Gene Name cytochrome P450, family 4, subfamily f, polypeptide 13
Synonyms 0610030I10Rik, leukotriene B4 omega hydroxylase, P450 CYP4F13
Accession Numbers
Essential gene? Probably non essential (E-score: 0.088) question?
Stock # IGL02934
Quality Score
Chromosome 17
Chromosomal Location 33143662-33166376 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 33148845 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 300 (V300A)
Ref Sequence ENSEMBL: ENSMUSP00000074733 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000075253] [ENSMUST00000137222] [ENSMUST00000139353] [ENSMUST00000141325] [ENSMUST00000145683]
AlphaFold Q99N19
Predicted Effect probably damaging
Transcript: ENSMUST00000075253
AA Change: V300A

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000074733
Gene: ENSMUSG00000024055
AA Change: V300A

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

transmembrane domain 20 42 N/A INTRINSIC
SCOP:d1e9xa_ 48 115 1e-4 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000139353
AA Change: V191A

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000123282
Gene: ENSMUSG00000024055
AA Change: V191A

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

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

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: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca4 A T 3: 121,956,008 (GRCm39) R716* probably null Het
Abca8a A T 11: 109,931,414 (GRCm39) N1246K probably damaging Het
Acadl A G 1: 66,876,134 (GRCm39) Y396H probably benign Het
Apol7c A T 15: 77,410,318 (GRCm39) S209R possibly damaging Het
Atp1a1 A T 3: 101,484,308 (GRCm39) C990* probably null Het
Cachd1 C T 4: 100,825,295 (GRCm39) S583L probably damaging Het
Cbfa2t3 T C 8: 123,374,497 (GRCm39) T48A probably benign Het
Ccdc138 G T 10: 58,409,402 (GRCm39) probably benign Het
Cenpe A G 3: 134,970,112 (GRCm39) E2231G probably damaging Het
Cog3 T C 14: 75,979,129 (GRCm39) I206V probably damaging Het
Cr2 A G 1: 194,836,633 (GRCm39) probably benign Het
Ctdspl2 T C 2: 121,809,490 (GRCm39) V147A probably damaging Het
Dkk3 A T 7: 111,749,954 (GRCm39) M72K probably damaging Het
Dock3 A T 9: 106,900,944 (GRCm39) F340L probably benign Het
Fut1 A G 7: 45,268,127 (GRCm39) H27R possibly damaging Het
Igkv4-80 A G 6: 68,993,840 (GRCm39) V17A probably benign Het
Igkv9-123 G A 6: 67,931,380 (GRCm39) P62L possibly damaging Het
Kmt2e T C 5: 23,702,882 (GRCm39) S1021P probably damaging Het
Krt13 A C 11: 100,009,910 (GRCm39) L320R probably damaging Het
Ldhal6b T C 17: 5,467,819 (GRCm39) T372A probably benign Het
Manba T C 3: 135,250,510 (GRCm39) V379A probably benign Het
Map1b C T 13: 99,571,639 (GRCm39) V361I probably benign Het
Map4k1 A G 7: 28,693,531 (GRCm39) S399G probably benign Het
Mff G A 1: 82,724,815 (GRCm39) R229H probably damaging Het
Naga T C 15: 82,214,401 (GRCm39) N370S possibly damaging Het
Ncor2 A T 5: 125,102,621 (GRCm39) M2045K probably benign Het
Nipal1 T C 5: 72,805,250 (GRCm39) L7P probably damaging Het
Or10p22 T A 10: 128,825,958 (GRCm39) M59K probably damaging Het
Pcmt1 A T 10: 7,516,491 (GRCm39) M187K probably benign Het
Perp A T 10: 18,731,520 (GRCm39) T160S probably damaging Het
Rapgef6 G A 11: 54,516,690 (GRCm39) D169N probably damaging Het
Sel1l G A 12: 91,776,710 (GRCm39) Q711* probably null Het
Septin5 T C 16: 18,448,581 (GRCm39) Y7C probably damaging Het
Spdya A T 17: 71,863,395 (GRCm39) N48I probably benign Het
Stard6 T A 18: 70,629,175 (GRCm39) probably benign Het
Sytl2 T C 7: 90,025,200 (GRCm39) V396A probably benign Het
Tcaf3 T G 6: 42,570,832 (GRCm39) M307L probably benign Het
Tdrd6 T C 17: 43,938,778 (GRCm39) N757D probably benign Het
Tgm1 T A 14: 55,947,446 (GRCm39) D305V probably damaging Het
Themis2 T A 4: 132,516,862 (GRCm39) M213L probably damaging Het
Tmem184c A G 8: 78,324,449 (GRCm39) V347A probably damaging Het
Tmem214 A G 5: 31,028,888 (GRCm39) E159G probably benign Het
Trim58 C T 11: 58,531,292 (GRCm39) probably benign Het
Tshz1 A T 18: 84,031,215 (GRCm39) S1064R probably damaging Het
Ubr2 C T 17: 47,268,266 (GRCm39) E983K possibly damaging Het
Vmn1r23 A T 6: 57,902,914 (GRCm39) I288N probably benign Het
Vmn2r97 T C 17: 19,149,947 (GRCm39) V445A probably benign Het
Whrn G A 4: 63,334,342 (GRCm39) T813M probably damaging Het
Xirp2 C T 2: 67,346,020 (GRCm39) H2754Y probably benign Het
Other mutations in Cyp4f13
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00836:Cyp4f13 APN 17 33,160,138 (GRCm39) missense probably benign 0.00
IGL01835:Cyp4f13 APN 17 33,149,588 (GRCm39) missense probably benign 0.39
IGL02234:Cyp4f13 APN 17 33,143,748 (GRCm39) utr 3 prime probably benign
IGL02437:Cyp4f13 APN 17 33,149,582 (GRCm39) missense probably benign 0.12
IGL02465:Cyp4f13 APN 17 33,148,110 (GRCm39) critical splice donor site probably null
IGL02604:Cyp4f13 APN 17 33,151,395 (GRCm39) missense probably benign 0.01
IGL03177:Cyp4f13 APN 17 33,165,888 (GRCm39) missense possibly damaging 0.88
R0117:Cyp4f13 UTSW 17 33,149,580 (GRCm39) missense probably damaging 0.98
R0138:Cyp4f13 UTSW 17 33,160,080 (GRCm39) missense possibly damaging 0.63
R0220:Cyp4f13 UTSW 17 33,148,476 (GRCm39) missense probably damaging 1.00
R0243:Cyp4f13 UTSW 17 33,143,943 (GRCm39) splice site probably benign
R0357:Cyp4f13 UTSW 17 33,151,625 (GRCm39) nonsense probably null
R1078:Cyp4f13 UTSW 17 33,144,542 (GRCm39) missense probably damaging 1.00
R1757:Cyp4f13 UTSW 17 33,148,932 (GRCm39) missense probably damaging 1.00
R1990:Cyp4f13 UTSW 17 33,144,542 (GRCm39) missense probably damaging 1.00
R2351:Cyp4f13 UTSW 17 33,144,570 (GRCm39) missense probably benign 0.01
R4704:Cyp4f13 UTSW 17 33,144,709 (GRCm39) missense probably damaging 1.00
R4865:Cyp4f13 UTSW 17 33,144,678 (GRCm39) missense probably damaging 1.00
R5004:Cyp4f13 UTSW 17 33,144,760 (GRCm39) missense probably benign 0.39
R5310:Cyp4f13 UTSW 17 33,144,795 (GRCm39) missense probably damaging 1.00
R5574:Cyp4f13 UTSW 17 33,148,179 (GRCm39) missense probably benign 0.39
R5996:Cyp4f13 UTSW 17 33,148,447 (GRCm39) missense possibly damaging 0.87
R6190:Cyp4f13 UTSW 17 33,148,847 (GRCm39) missense probably damaging 1.00
R8254:Cyp4f13 UTSW 17 33,148,907 (GRCm39) missense probably benign 0.04
R8495:Cyp4f13 UTSW 17 33,143,833 (GRCm39) missense probably damaging 1.00
R8496:Cyp4f13 UTSW 17 33,143,833 (GRCm39) missense probably damaging 1.00
R8498:Cyp4f13 UTSW 17 33,143,833 (GRCm39) missense probably damaging 1.00
R9067:Cyp4f13 UTSW 17 33,143,801 (GRCm39) missense probably damaging 1.00
R9225:Cyp4f13 UTSW 17 33,148,175 (GRCm39) missense probably damaging 1.00
R9225:Cyp4f13 UTSW 17 33,144,319 (GRCm39) missense probably damaging 1.00
Posted On 2015-12-18