Incidental Mutation 'R7124:Cyp4f14'
ID 552240
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 045212-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7124 (G1)
Quality Score 225.009
Status Not validated
Chromosome 17
Chromosomal Location 33124044-33136316 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 33133562 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 98 (V98A)
Ref Sequence ENSEMBL: ENSMUSP00000050478 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000054174] [ENSMUST00000179434]
AlphaFold Q9EP75
Predicted Effect probably benign
Transcript: ENSMUST00000054174
AA Change: V98A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000050478
Gene: ENSMUSG00000024292
AA Change: V98A

DomainStartEndE-ValueType
Pfam:p450 52 515 2.7e-136 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000179434
AA Change: V98A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000136139
Gene: ENSMUSG00000024292
AA Change: V98A

DomainStartEndE-ValueType
Pfam:p450 52 515 2.7e-136 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.2%
Validation Efficiency 97% (72/74)
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: 73 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700006A11Rik A C 3: 124,208,042 (GRCm39) S212R probably benign Het
4930562C15Rik T C 16: 4,682,196 (GRCm39) S170P probably benign Het
9330182O14Rik G A 15: 40,008,303 (GRCm39) C59Y unknown Het
AA986860 A G 1: 130,670,624 (GRCm39) E282G possibly damaging Het
Adam1a G T 5: 121,657,397 (GRCm39) T632K probably benign Het
Aspg G T 12: 112,089,417 (GRCm39) A402S probably damaging Het
Capn7 C T 14: 31,058,642 (GRCm39) probably benign Het
Card9 C T 2: 26,246,896 (GRCm39) probably null Het
Cdh13 T C 8: 119,694,912 (GRCm39) V254A probably damaging Het
Colec10 T C 15: 54,325,767 (GRCm39) V199A probably damaging Het
Copb2 T C 9: 98,459,106 (GRCm39) S283P probably damaging Het
Csmd1 G T 8: 15,953,202 (GRCm39) S3426R probably damaging Het
Disp1 C A 1: 182,869,030 (GRCm39) R1130L probably damaging Het
Dysf A G 6: 84,167,883 (GRCm39) probably null Het
Efcab3 T C 11: 104,629,100 (GRCm39) F926S probably benign Het
Eif4ebp1 T C 8: 27,763,447 (GRCm39) V80A probably damaging Het
Eloa T A 4: 135,736,452 (GRCm39) I565F probably damaging Het
Espn G T 4: 152,215,721 (GRCm39) H513N probably benign Het
Fam83c C T 2: 155,671,491 (GRCm39) S648N probably benign Het
Fdxr C T 11: 115,160,403 (GRCm39) V351M probably benign Het
Fras1 A T 5: 96,862,260 (GRCm39) D2213V probably damaging Het
Gbp4 T A 5: 105,267,825 (GRCm39) I474F possibly damaging Het
Golgb1 T C 16: 36,734,035 (GRCm39) V1135A probably benign Het
Gpt2 G A 8: 86,244,681 (GRCm39) E325K probably benign Het
Hipk2 A T 6: 38,795,413 (GRCm39) Y285* probably null Het
Ifi27l2b T C 12: 103,417,579 (GRCm39) I203V probably damaging Het
Itga10 T A 3: 96,559,081 (GRCm39) M390K probably damaging Het
Itgb8 G T 12: 119,166,159 (GRCm39) S124* probably null Het
Klhdc10 T A 6: 30,441,826 (GRCm39) F173I probably damaging Het
Kng2 T G 16: 22,830,805 (GRCm39) N168T probably damaging Het
Krtap24-1 T C 16: 88,408,434 (GRCm39) T231A probably damaging Het
Lbx2 A T 6: 83,065,045 (GRCm39) D194V probably damaging Het
Lrrc39 C A 3: 116,359,562 (GRCm39) Q36K probably benign Het
Madd T C 2: 90,992,393 (GRCm39) E1093G possibly damaging Het
Mfap3l A G 8: 61,124,303 (GRCm39) T182A probably damaging Het
Myo9b T A 8: 71,786,345 (GRCm39) Y670* probably null Het
Nbea A G 3: 55,899,865 (GRCm39) L1428P probably damaging Het
Nkx2-3 T C 19: 43,603,245 (GRCm39) Y284H possibly damaging Het
Nphp4 A G 4: 152,640,141 (GRCm39) D1009G probably benign Het
Npy2r G A 3: 82,448,490 (GRCm39) A95V probably damaging Het
Nuggc A G 14: 65,846,251 (GRCm39) E70G probably damaging Het
Or5ap2 T C 2: 85,680,254 (GRCm39) S153P probably benign Het
Or5m11 T A 2: 85,781,817 (GRCm39) S137T possibly damaging Het
Palld A T 8: 61,969,679 (GRCm39) V1215D unknown Het
Pard6g T C 18: 80,160,340 (GRCm39) I151T possibly damaging Het
Parp12 T C 6: 39,088,670 (GRCm39) I189V probably benign Het
Parp4 A G 14: 56,840,256 (GRCm39) I554V probably benign Het
Pcnx2 G A 8: 126,480,356 (GRCm39) P1984S probably damaging Het
Piwil4 T C 9: 14,648,196 (GRCm39) M128V probably benign Het
Polr2a C A 11: 69,628,288 (GRCm39) E1302* probably null Het
Psg17 C A 7: 18,548,421 (GRCm39) G450V probably damaging Het
Psg17 C G 7: 18,548,422 (GRCm39) G450R probably damaging Het
Rag1 T C 2: 101,474,128 (GRCm39) E338G probably damaging Het
Rev3l A T 10: 39,698,163 (GRCm39) K887* probably null Het
Rragd T C 4: 32,996,027 (GRCm39) F124S possibly damaging Het
Scube1 A T 15: 83,513,712 (GRCm39) probably null Het
Sfpq A T 4: 126,919,725 (GRCm39) D490V possibly damaging Het
Smc1b G T 15: 84,955,798 (GRCm39) Q1034K probably damaging Het
Smg7 T C 1: 152,753,831 (GRCm39) N5S probably benign Het
Spata31d1a A C 13: 59,850,301 (GRCm39) L609R probably damaging Het
Ssh2 A G 11: 77,345,164 (GRCm39) K1050E probably benign Het
Stab1 G A 14: 30,882,824 (GRCm39) T393I possibly damaging Het
Sult2a4 C T 7: 13,722,320 (GRCm39) W49* probably null Het
Thrap3 A T 4: 126,074,231 (GRCm39) S172T unknown Het
Tmem130 A G 5: 144,687,721 (GRCm39) V205A probably damaging Het
Ube2d2b A G 5: 107,978,717 (GRCm39) I123V probably benign Het
Unc79 G T 12: 103,027,652 (GRCm39) L414F probably damaging Het
Vmn2r30 C T 7: 7,337,183 (GRCm39) S151N probably benign Het
Vmn2r54 T A 7: 12,356,078 (GRCm39) T443S probably benign Het
Zfp229 T A 17: 21,961,597 (GRCm39) S51T probably damaging Het
Zfp617 T C 8: 72,686,384 (GRCm39) L238P probably damaging Het
Zfp707 T A 15: 75,845,398 (GRCm39) C87* probably null Het
Zfp853 T C 5: 143,275,362 (GRCm39) K101R unknown 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
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
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
Posted On 2019-05-15