Incidental Mutation 'R6972:Cyp4f14'
ID 542316
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 045082-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6972 (G1)
Quality Score 224.009
Status Validated
Chromosome 17
Chromosomal Location 33124044-33136316 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 33124483 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Threonine at position 523 (A523T)
Ref Sequence ENSEMBL: ENSMUSP00000136139 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000054174] [ENSMUST00000179434]
AlphaFold Q9EP75
Predicted Effect probably benign
Transcript: ENSMUST00000054174
AA Change: A523T

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000050478
Gene: ENSMUSG00000024292
AA Change: A523T

DomainStartEndE-ValueType
Pfam:p450 52 515 2.7e-136 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000179434
AA Change: A523T

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000136139
Gene: ENSMUSG00000024292
AA Change: A523T

DomainStartEndE-ValueType
Pfam:p450 52 515 2.7e-136 PFAM
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.0%
  • 20x: 95.8%
Validation Efficiency 100% (41/41)
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: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abhd2 A G 7: 79,003,775 (GRCm39) S285G probably benign Het
Afg1l T C 10: 42,354,370 (GRCm39) T10A probably benign Het
Akap9 A G 5: 4,096,699 (GRCm39) N2525D possibly damaging Het
B3gnt7 G A 1: 86,233,109 (GRCm39) M1I probably null Het
Bdp1 T C 13: 100,174,269 (GRCm39) E2089G probably null Het
Calcrl T G 2: 84,198,922 (GRCm39) I156L probably benign Het
Cd69 T C 6: 129,246,543 (GRCm39) S122G probably benign Het
Chek2 T C 5: 111,003,705 (GRCm39) probably null Het
Ckap5 T A 2: 91,436,658 (GRCm39) I1586K probably damaging Het
Dcaf1 T A 9: 106,723,971 (GRCm39) C466* probably null Het
Dcdc2a A T 13: 25,304,372 (GRCm39) probably benign Het
Eml5 T C 12: 98,842,439 (GRCm39) I220V probably benign Het
Etv2 T C 7: 30,334,167 (GRCm39) N189D probably benign Het
Fuz T C 7: 44,546,755 (GRCm39) probably benign Het
Git1 T G 11: 77,390,347 (GRCm39) V64G probably damaging Het
Gpr162 C T 6: 124,838,272 (GRCm39) R126H probably damaging Het
Grm5 T C 7: 87,252,131 (GRCm39) V127A probably benign Het
Iqsec1 T C 6: 90,653,750 (GRCm39) D665G probably damaging Het
Kcnh1 A G 1: 191,959,144 (GRCm39) I233V probably damaging Het
Lmcd1 C T 6: 112,287,659 (GRCm39) T115I probably damaging Het
Mybpc1 T C 10: 88,396,223 (GRCm39) E208G possibly damaging Het
Nfic C A 10: 81,256,191 (GRCm39) A158S probably benign Het
Nos3 A T 5: 24,585,241 (GRCm39) I798L probably benign Het
Ntrk1 A T 3: 87,691,288 (GRCm39) L292Q probably damaging Het
Or2ag16 A G 7: 106,351,906 (GRCm39) S230P possibly damaging Het
Orc4 T C 2: 48,817,196 (GRCm39) Q164R probably benign Het
Pcdhb14 T A 18: 37,582,745 (GRCm39) V617E probably damaging Het
Pira1 C G 7: 3,740,319 (GRCm39) A301P probably damaging Het
Plscr3 G A 11: 69,738,784 (GRCm39) E149K probably damaging Het
Pltp A G 2: 164,688,512 (GRCm39) probably null Het
Pramel11 A G 4: 143,623,472 (GRCm39) L234P probably damaging Het
Prg2 G A 2: 84,812,617 (GRCm39) R109H probably benign Het
Ptprj G A 2: 90,410,747 (GRCm39) S62F possibly damaging Het
Resf1 T A 6: 149,227,607 (GRCm39) Y218N probably damaging Het
Skint3 T A 4: 112,116,089 (GRCm39) S240T probably damaging Het
Smarca5 A G 8: 81,431,380 (GRCm39) Y946H probably damaging Het
Taf4b T C 18: 14,946,404 (GRCm39) V409A possibly damaging Het
Tafa2 A G 10: 123,540,278 (GRCm39) T45A probably benign Het
Trim29 T A 9: 43,238,409 (GRCm39) N504K probably benign Het
Vmn2r77 T C 7: 86,452,202 (GRCm39) Y461H probably damaging Het
Zeb2 T C 2: 44,887,330 (GRCm39) K531E probably damaging Het
Zfp687 A G 3: 94,916,688 (GRCm39) S813P possibly damaging 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
R5282:Cyp4f14 UTSW 17 33,126,959 (GRCm39) missense probably damaging 0.99
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
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'- TGGCCTCTTGCTCAGACATC -3'
(R):5'- GGAACTGCATAGGACAGACTTTC -3'

Sequencing Primer
(F):5'- CTATGTTGTTCAGAGAATAGTCCAGG -3'
(R):5'- ACAGACTTTCGCCATGAGTG -3'
Posted On 2018-11-28