Incidental Mutation 'R5282:Cyp4f14'
ID 402838
Institutional Source Beutler Lab
Gene Symbol Cyp4f14
Ensembl Gene ENSMUSG00000024292
Gene Name cytochrome P450, family 4, subfamily f, polypeptide 14
Synonyms 1300014O15Rik, leukotriene B4 omega hydroxylase
MMRRC Submission 042867-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5282 (G1)
Quality Score 225
Status Not validated
Chromosome 17
Chromosomal Location 33124044-33136316 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 33126959 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Serine at position 324 (T324S)
Ref Sequence ENSEMBL: ENSMUSP00000136139 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000054174] [ENSMUST00000179434]
AlphaFold Q9EP75
Predicted Effect probably damaging
Transcript: ENSMUST00000054174
AA Change: T324S

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000050478
Gene: ENSMUSG00000024292
AA Change: T324S

DomainStartEndE-ValueType
Pfam:p450 52 515 2.7e-136 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000179434
AA Change: T324S

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000136139
Gene: ENSMUSG00000024292
AA Change: T324S

DomainStartEndE-ValueType
Pfam:p450 52 515 2.7e-136 PFAM
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 96.0%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene 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 likely localizes to the endoplasmic reticulum. When expressed in yeast the enzyme is capable of oxdizing arachidonic acid. It can also catalyze the epoxidation of 22:6n-3 and 22:5n-3 polyunsaturated long-chain fatty acids. This gene is part of a cluster of cytochrome P450 genes on chromosome 19. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2014]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit reduced vitamin E-omega-hydroxylase activity and altered levels of tocopherols and their metabolites. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700102P08Rik T A 9: 108,270,439 (GRCm39) M1K probably null Het
2810021J22Rik T C 11: 58,771,166 (GRCm39) L216S possibly damaging Het
4933405O20Rik G A 7: 50,249,220 (GRCm39) E85K possibly damaging Het
Agrn A G 4: 156,257,492 (GRCm39) F1153L probably damaging Het
Cbx8 A G 11: 118,929,742 (GRCm39) S284P probably damaging Het
Cep128 A G 12: 91,305,893 (GRCm39) L170P probably damaging Het
Daw1 G T 1: 83,170,419 (GRCm39) V244L probably benign Het
Eef2kmt A G 16: 5,063,222 (GRCm39) V306A probably benign Het
Enah A T 1: 181,763,293 (GRCm39) probably null Het
Fam171b T C 2: 83,683,949 (GRCm39) probably null Het
Fsip2 C T 2: 82,808,925 (GRCm39) T1748I possibly damaging Het
Gabrg2 C T 11: 41,862,559 (GRCm39) G175D probably damaging Het
Gtf2h3 C T 5: 124,722,360 (GRCm39) T121I probably benign Het
Hmcn1 G T 1: 150,458,047 (GRCm39) N33K probably damaging Het
Incenp T A 19: 9,855,770 (GRCm39) E514V unknown Het
Kank3 T C 17: 34,036,917 (GRCm39) S74P probably benign Het
Lrriq1 G T 10: 103,051,206 (GRCm39) N515K probably benign Het
Mfsd13b G A 7: 120,591,056 (GRCm39) D266N probably damaging Het
Neto1 T C 18: 86,422,998 (GRCm39) Y152H probably damaging Het
Nub1 C A 5: 24,900,533 (GRCm39) F145L probably benign Het
Nufip1 T C 14: 76,351,715 (GRCm39) probably null Het
Pard6g T A 18: 80,123,116 (GRCm39) V50E probably benign Het
Polr3a T C 14: 24,505,009 (GRCm39) I1084V possibly damaging Het
Rapgef5 A C 12: 117,703,379 (GRCm39) N431T probably damaging Het
Rassf9 A T 10: 102,381,205 (GRCm39) T196S probably damaging Het
Rrp12 T C 19: 41,865,029 (GRCm39) Y764C probably benign Het
Slfn8 T C 11: 82,908,550 (GRCm39) probably null Het
Smox T A 2: 131,363,026 (GRCm39) V265D probably damaging Het
Sult1b1 T C 5: 87,678,510 (GRCm39) I105V probably benign Het
Sycp2 T C 2: 178,045,554 (GRCm39) D22G probably damaging Het
Tbck G A 3: 132,456,977 (GRCm39) M630I possibly damaging Het
Tenm4 G C 7: 96,486,538 (GRCm39) G965R possibly damaging Het
Trappc10 G A 10: 78,023,694 (GRCm39) T1258I probably damaging Het
Tssk1 G A 16: 17,713,123 (GRCm39) G303S probably benign Het
Tstd2 T C 4: 46,120,461 (GRCm39) Y313C probably damaging Het
Usp42 G A 5: 143,707,401 (GRCm39) T260M probably damaging Het
Wdr43 T A 17: 71,955,772 (GRCm39) V479E probably damaging Het
Xpo7 G A 14: 70,921,171 (GRCm39) T599I probably damaging Het
Zfp553 A G 7: 126,836,013 (GRCm39) K523E probably benign Het
Other mutations in Cyp4f14
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00090:Cyp4f14 APN 17 33,133,540 (GRCm39) missense probably benign 0.06
IGL00858:Cyp4f14 APN 17 33,130,692 (GRCm39) splice site probably benign
IGL01673:Cyp4f14 APN 17 33,130,125 (GRCm39) splice site probably null
IGL01716:Cyp4f14 APN 17 33,124,470 (GRCm39) utr 3 prime probably benign
IGL01768:Cyp4f14 APN 17 33,126,976 (GRCm39) missense probably damaging 1.00
IGL02314:Cyp4f14 APN 17 33,125,265 (GRCm39) missense probably benign 0.12
IGL02697:Cyp4f14 APN 17 33,124,597 (GRCm39) missense probably damaging 0.97
IGL03035:Cyp4f14 APN 17 33,133,608 (GRCm39) missense probably benign 0.15
dust UTSW 17 33,135,853 (GRCm39) nonsense probably null
powder UTSW 17 33,124,483 (GRCm39) missense probably benign 0.00
PIT4434001:Cyp4f14 UTSW 17 33,125,104 (GRCm39) missense possibly damaging 0.94
R1186:Cyp4f14 UTSW 17 33,135,760 (GRCm39) missense probably benign
R1230:Cyp4f14 UTSW 17 33,135,762 (GRCm39) missense probably benign 0.00
R1671:Cyp4f14 UTSW 17 33,135,883 (GRCm39) intron probably benign
R1672:Cyp4f14 UTSW 17 33,128,210 (GRCm39) missense probably benign 0.00
R1696:Cyp4f14 UTSW 17 33,128,145 (GRCm39) missense possibly damaging 0.81
R1828:Cyp4f14 UTSW 17 33,130,209 (GRCm39) missense probably damaging 0.98
R1934:Cyp4f14 UTSW 17 33,125,289 (GRCm39) missense probably damaging 1.00
R2023:Cyp4f14 UTSW 17 33,125,505 (GRCm39) missense probably damaging 1.00
R3013:Cyp4f14 UTSW 17 33,128,139 (GRCm39) missense probably benign 0.01
R3783:Cyp4f14 UTSW 17 33,135,736 (GRCm39) missense probably benign 0.00
R4013:Cyp4f14 UTSW 17 33,135,853 (GRCm39) nonsense probably null
R4369:Cyp4f14 UTSW 17 33,128,232 (GRCm39) missense probably benign
R4371:Cyp4f14 UTSW 17 33,128,232 (GRCm39) missense probably benign
R4683:Cyp4f14 UTSW 17 33,126,985 (GRCm39) missense probably null 0.78
R5332:Cyp4f14 UTSW 17 33,125,065 (GRCm39) missense probably benign 0.00
R5810:Cyp4f14 UTSW 17 33,125,072 (GRCm39) missense possibly damaging 0.88
R6244:Cyp4f14 UTSW 17 33,125,291 (GRCm39) missense probably benign 0.41
R6622:Cyp4f14 UTSW 17 33,133,619 (GRCm39) missense probably benign
R6972:Cyp4f14 UTSW 17 33,124,483 (GRCm39) missense probably benign 0.00
R6975:Cyp4f14 UTSW 17 33,133,608 (GRCm39) missense probably benign 0.01
R7124:Cyp4f14 UTSW 17 33,133,562 (GRCm39) missense probably benign 0.00
R7436:Cyp4f14 UTSW 17 33,128,131 (GRCm39) missense probably benign 0.03
R7849:Cyp4f14 UTSW 17 33,128,325 (GRCm39) missense probably benign 0.21
R8223:Cyp4f14 UTSW 17 33,130,627 (GRCm39) critical splice donor site probably null
R9397:Cyp4f14 UTSW 17 33,130,516 (GRCm39) missense probably damaging 0.98
Predicted Primers PCR Primer
(F):5'- TTCAGCACTGCATTGAGGAC -3'
(R):5'- TGACACAGGAGACAGGATACCC -3'

Sequencing Primer
(F):5'- CAGTGCCCAGGTAGTGAAATCC -3'
(R):5'- CAGTAAATTCAGACTGTACCAGTAGC -3'
Posted On 2016-07-22