Incidental Mutation 'R5574:Cyp4f13'
ID 437137
Institutional Source Beutler Lab
Gene Symbol Cyp4f13
Ensembl Gene ENSMUSG00000024055
Gene Name cytochrome P450, family 4, subfamily f, polypeptide 13
Synonyms 0610030I10Rik, leukotriene B4 omega hydroxylase, P450 CYP4F13
MMRRC Submission 043129-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.088) question?
Stock # R5574 (G1)
Quality Score 225
Status Validated
Chromosome 17
Chromosomal Location 33143662-33166376 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 33148179 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Histidine at position 349 (Y349H)
Ref Sequence ENSEMBL: ENSMUSP00000074733 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000075253] [ENSMUST00000137222] [ENSMUST00000139353] [ENSMUST00000141325] [ENSMUST00000145683]
AlphaFold Q99N19
Predicted Effect probably benign
Transcript: ENSMUST00000075253
AA Change: Y349H

PolyPhen 2 Score 0.390 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000074733
Gene: ENSMUSG00000024055
AA Change: Y349H

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: Y240H

PolyPhen 2 Score 0.023 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000123282
Gene: ENSMUSG00000024055
AA Change: Y240H

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
Meta Mutation Damage Score 0.1859 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.7%
  • 20x: 96.6%
Validation Efficiency 99% (68/69)
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: 67 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700129C05Rik T A 14: 59,380,205 (GRCm39) N31I possibly damaging Het
Acvr1b T A 15: 101,099,958 (GRCm39) M304K probably benign Het
Adamts1 G T 16: 85,596,530 (GRCm39) D106E probably damaging Het
Atosa A T 9: 74,917,672 (GRCm39) D757V probably damaging Het
Blm C A 7: 80,149,521 (GRCm39) C696F probably damaging Het
Bnip3l-ps T A 12: 18,267,119 (GRCm39) noncoding transcript Het
Ccdc171 A T 4: 83,611,990 (GRCm39) N895I probably damaging Het
Cdhr4 A T 9: 107,870,527 (GRCm39) probably benign Het
Cfap97 T C 8: 46,623,179 (GRCm39) S190P probably damaging Het
Chrnb1 A C 11: 69,684,509 (GRCm39) probably benign Het
Clns1a A G 7: 97,370,165 (GRCm39) probably benign Het
Col8a2 G A 4: 126,205,061 (GRCm39) probably benign Het
Cr2 T A 1: 194,823,544 (GRCm39) E721V probably damaging Het
Csk A G 9: 57,536,584 (GRCm39) V172A probably benign Het
Cyp2g1 G A 7: 26,520,165 (GRCm39) V466M possibly damaging Het
Dnm1l T C 16: 16,147,685 (GRCm39) Y205C probably damaging Het
Dync1i2 A T 2: 71,063,994 (GRCm39) T113S probably benign Het
Edem2 T C 2: 155,558,075 (GRCm39) E186G probably damaging Het
Eya2 G A 2: 165,605,736 (GRCm39) R380H probably damaging Het
Gldn A G 9: 54,220,206 (GRCm39) T132A probably damaging Het
Gm13941 A T 2: 110,930,951 (GRCm39) I74K unknown Het
Gm3898 C T 9: 43,741,339 (GRCm39) noncoding transcript Het
Ighmbp2 C T 19: 3,321,536 (GRCm39) V408I probably benign Het
Klhdc10 C T 6: 30,439,864 (GRCm39) L127F possibly damaging Het
Letm1 G A 5: 33,926,730 (GRCm39) T189M possibly damaging Het
Lrrc17 A T 5: 21,775,355 (GRCm39) I306F possibly damaging Het
Lrrk2 T A 15: 91,671,219 (GRCm39) V2000E probably damaging Het
Mettl9 A T 7: 120,647,093 (GRCm39) E66D probably benign Het
Mroh1 T A 15: 76,318,131 (GRCm39) V877D probably benign Het
Mycbp2 C T 14: 103,380,203 (GRCm39) V3760M possibly damaging Het
Nos3 A G 5: 24,573,859 (GRCm39) T208A possibly damaging Het
Npdc1 G A 2: 25,298,957 (GRCm39) D284N probably damaging Het
Obp2a A T 2: 25,590,842 (GRCm39) T70S possibly damaging Het
Or4a72 C T 2: 89,405,321 (GRCm39) V250I possibly damaging Het
Or52a5b T G 7: 103,417,323 (GRCm39) I94L possibly damaging Het
Or5al6 T C 2: 85,976,535 (GRCm39) D181G probably damaging Het
Or8b8 A T 9: 37,808,877 (GRCm39) Y59F probably damaging Het
Or8h10 A G 2: 86,808,867 (GRCm39) V91A probably benign Het
Pate2 A G 9: 35,597,411 (GRCm39) probably benign Het
Pdzph1 A G 17: 59,280,942 (GRCm39) F447L probably benign Het
Pias1 A G 9: 62,827,775 (GRCm39) C211R probably damaging Het
Plb1 A G 5: 32,487,291 (GRCm39) S929G probably benign Het
Pramel32 T G 4: 88,546,280 (GRCm39) E354A probably benign Het
Prc1 G A 7: 79,944,290 (GRCm39) probably benign Het
Prex2 A G 1: 11,210,282 (GRCm39) D574G probably damaging Het
Rapgef4 G A 2: 71,864,464 (GRCm39) probably null Het
Rmc1 CTGTGTGTT CTGTGTGTTGTGTGTT 18: 12,318,063 (GRCm39) probably null Het
Rock2 T C 12: 17,011,642 (GRCm39) M690T possibly damaging Het
Sinhcaf C T 6: 148,846,378 (GRCm39) probably benign Het
Slc18a2 A G 19: 59,249,837 (GRCm39) I25V probably benign Het
Slc9a5 T A 8: 106,091,323 (GRCm39) I701K probably benign Het
Sorcs1 T A 19: 50,210,571 (GRCm39) N765Y probably damaging Het
Ssh2 A T 11: 77,340,941 (GRCm39) I698L probably benign Het
Stam A G 2: 14,120,675 (GRCm39) D58G probably damaging Het
Thsd4 C A 9: 59,879,683 (GRCm39) R1018L probably damaging Het
Tnxb A G 17: 34,929,998 (GRCm39) T2911A probably benign Het
Trpm7 A C 2: 126,654,950 (GRCm39) F1329L probably benign Het
Ttll9 A G 2: 152,826,168 (GRCm39) E126G possibly damaging Het
Tubgcp5 G A 7: 55,455,077 (GRCm39) V258M probably benign Het
Unc45a G A 7: 79,984,604 (GRCm39) A232V probably damaging Het
Utp14b G A 1: 78,644,126 (GRCm39) V675M probably damaging Het
Vmn2r67 T A 7: 84,801,099 (GRCm39) H279L probably benign Het
Vmn2r75 G T 7: 85,815,510 (GRCm39) A118E probably benign Het
Wdr36 A T 18: 32,999,012 (GRCm39) Q886L probably damaging Het
Zfp433 T A 10: 81,555,125 (GRCm39) Y27* probably null Het
Zfp715 A T 7: 42,960,463 (GRCm39) S43T possibly damaging Het
Zfyve26 A G 12: 79,286,698 (GRCm39) S2297P possibly damaging 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
IGL02934:Cyp4f13 APN 17 33,148,845 (GRCm39) missense probably damaging 1.00
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
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
Predicted Primers PCR Primer
(F):5'- CTCTTATGAGCACCAGGAAACG -3'
(R):5'- TAGTCCCAGACTCACCTGTTG -3'

Sequencing Primer
(F):5'- CACCAGGAAACGATGGAAGAATCAAC -3'
(R):5'- AGACTCACCTGTTGGGGAACAC -3'
Posted On 2016-10-26