Incidental Mutation 'IGL02604:Cyp4f13'
ID300177
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: 0.118) question?
Stock #IGL02604
Quality Score
Status
Chromosome17
Chromosomal Location32924688-32947402 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 32932421 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Valine at position 173 (I173V)
Ref Sequence ENSEMBL: ENSMUSP00000074733 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000075253] [ENSMUST00000137222] [ENSMUST00000139353] [ENSMUST00000141325] [ENSMUST00000145683]
Predicted Effect probably benign
Transcript: ENSMUST00000075253
AA Change: I173V

PolyPhen 2 Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000074733
Gene: ENSMUSG00000024055
AA Change: I173V

DomainStartEndE-ValueType
transmembrane domain 20 42 N/A INTRINSIC
Pfam:p450 52 514 1.9e-130 PFAM
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
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: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2300002M23Rik T C 17: 35,567,948 V61A probably benign Het
Arfgef1 G A 1: 10,181,050 probably benign Het
Arhgef4 T A 1: 34,811,723 L594* probably null Het
Cacna2d3 T C 14: 29,293,109 T375A possibly damaging Het
Calb2 A C 8: 110,148,528 Y155D probably damaging Het
Camkmt A G 17: 85,096,625 T92A possibly damaging Het
Chsy3 A G 18: 59,409,115 S442G probably benign Het
Dapk1 A G 13: 60,748,320 T741A probably benign Het
Dennd3 T C 15: 73,556,403 I866T probably damaging Het
Dhrs2 A T 14: 55,237,321 I138F possibly damaging Het
Dscaml1 C T 9: 45,744,328 probably benign Het
Fsbp A G 4: 11,584,147 E282G probably damaging Het
Hpgds A T 6: 65,123,610 L128Q probably damaging Het
Hspa9 A G 18: 34,954,213 V13A unknown Het
Itgb3 A G 11: 104,662,443 E709G probably damaging Het
Jarid2 T C 13: 44,874,401 S148P probably damaging Het
Kcna6 C T 6: 126,739,204 G241R probably benign Het
Kdm5a T A 6: 120,431,980 N1541K probably benign Het
Kel C A 6: 41,687,582 E640D probably damaging Het
Lcp1 A T 14: 75,224,126 I520F probably benign Het
Lgr4 A G 2: 110,011,313 I524V probably damaging Het
Maats1 A G 16: 38,321,559 probably benign Het
Mup20 A C 4: 62,051,904 Y139D probably damaging Het
Notch4 T C 17: 34,565,388 probably null Het
Obox7 A G 7: 14,665,368 E173G probably benign Het
Olfr1502 T A 19: 13,861,806 N4K probably benign Het
Olfr153 A T 2: 87,532,605 T191S probably damaging Het
Olfr447 T A 6: 42,912,058 C178* probably null Het
Olfr517 T A 7: 108,868,650 Y168F probably benign Het
Olfr889 C T 9: 38,115,852 Q19* probably null Het
Patl2 T G 2: 122,125,333 T241P possibly damaging Het
Pip5k1c C A 10: 81,317,321 probably null Het
Plekhg6 T C 6: 125,377,379 probably benign Het
Pon1 C A 6: 5,168,375 G344V probably damaging Het
Ppp1r21 G T 17: 88,572,743 K529N probably benign Het
Prdm15 A G 16: 97,821,942 S203P probably benign Het
Psmc2 T A 5: 21,795,100 probably null Het
Ptn T C 6: 36,715,718 M166V unknown Het
Ptpn13 A G 5: 103,501,903 N391D probably benign Het
Rnf214 A G 9: 45,869,543 S383P probably damaging Het
Rufy4 T A 1: 74,134,189 L438H probably damaging Het
Scarf2 A G 16: 17,803,744 T353A probably damaging Het
Serpinb9e A C 13: 33,257,759 I225L probably benign Het
Slc25a40 T C 5: 8,453,219 V312A probably benign Het
Tmc3 A G 7: 83,622,619 Y993C possibly damaging Het
Trim56 A C 5: 137,113,076 C529G probably damaging Het
Trim8 T C 19: 46,515,478 S490P probably damaging Het
Trmt6 A T 2: 132,810,437 Y147* probably null Het
Vmn2r109 T A 17: 20,540,701 H798L probably damaging Het
Vps35 A G 8: 85,286,389 L153P probably damaging Het
Wdr82 T C 9: 106,183,681 I131T probably damaging Het
Zfp69 A T 4: 120,931,463 D218E 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
IGL02465:Cyp4f13 APN 17 32929136 critical splice donor site probably null
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