Incidental Mutation 'IGL00090:Cyp4f14'
ID 808
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cyp4f14
Ensembl Gene ENSMUSG00000024292
Gene Name cytochrome P450, family 4, subfamily f, polypeptide 14
Synonyms 1300014O15Rik, leukotriene B4 omega hydroxylase
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL00090
Quality Score
Status
Chromosome 17
Chromosomal Location 33124044-33136316 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 33133540 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 105 (D105E)
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: D105E

PolyPhen 2 Score 0.057 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000050478
Gene: ENSMUSG00000024292
AA Change: D105E

DomainStartEndE-ValueType
Pfam:p450 52 515 2.7e-136 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000179434
AA Change: D105E

PolyPhen 2 Score 0.057 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000136139
Gene: ENSMUSG00000024292
AA Change: D105E

DomainStartEndE-ValueType
Pfam:p450 52 515 2.7e-136 PFAM
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 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: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb5 T C 12: 118,854,345 (GRCm39) T857A probably benign Het
Abcc9 A T 6: 142,578,916 (GRCm39) probably benign Het
Adam11 A G 11: 102,667,657 (GRCm39) T709A probably benign Het
Adgre1 A G 17: 57,757,055 (GRCm39) I771V probably benign Het
Adgrv1 T G 13: 81,553,527 (GRCm39) probably null Het
Adgrv1 C T 13: 81,726,220 (GRCm39) D602N probably damaging Het
Adra1d G T 2: 131,403,597 (GRCm39) D164E possibly damaging Het
Ago3 A G 4: 126,265,334 (GRCm39) L319P probably damaging Het
Aim2 A G 1: 173,283,031 (GRCm39) S38G probably benign Het
Apoh A G 11: 108,286,660 (GRCm39) D28G probably benign Het
Atm C T 9: 53,435,743 (GRCm39) R189K probably damaging Het
Bbs1 T C 19: 4,943,038 (GRCm39) T451A probably benign Het
BC034090 T C 1: 155,101,193 (GRCm39) D719G possibly damaging Het
Bcr T C 10: 74,992,903 (GRCm39) probably benign Het
Bmp2 A T 2: 133,402,947 (GRCm39) Q166L probably benign Het
Bms1 A T 6: 118,381,544 (GRCm39) S665T probably benign Het
Ccser1 A T 6: 62,357,126 (GRCm39) T855S possibly damaging Het
Cfap36 C T 11: 29,172,875 (GRCm39) V217M probably benign Het
Clca3b T C 3: 144,542,393 (GRCm39) N470D probably damaging Het
Cort A G 4: 149,209,752 (GRCm39) F100S probably damaging Het
Dnah1 A G 14: 31,009,830 (GRCm39) S1913P probably benign Het
Fam91a1 A T 15: 58,302,584 (GRCm39) H308L probably damaging Het
Fbn1 A C 2: 125,166,867 (GRCm39) I2016M probably damaging Het
Fibcd1 T A 2: 31,723,886 (GRCm39) Q251L possibly damaging Het
Flg2 T A 3: 93,109,416 (GRCm39) Y481* probably null Het
Ly9 A T 1: 171,421,019 (GRCm39) I624N probably damaging Het
Mapt C T 11: 104,213,311 (GRCm39) S301L probably damaging Het
Meiob G A 17: 25,042,603 (GRCm39) V144I probably benign Het
Muc4 G A 16: 32,754,086 (GRCm38) G1321R probably benign Het
Myo5a T A 9: 75,068,779 (GRCm39) C660* probably null Het
Necab3 G T 2: 154,389,488 (GRCm39) probably benign Het
Nr2c2ap A G 8: 70,585,279 (GRCm39) Y93C probably damaging Het
Nxpe5 A G 5: 138,247,096 (GRCm39) D356G probably benign Het
Or10ak9 T A 4: 118,726,484 (GRCm39) Y168N probably damaging Het
Or2w25 A T 11: 59,504,147 (GRCm39) Y119F possibly damaging Het
Plce1 A G 19: 38,734,232 (GRCm39) Q1544R probably damaging Het
Plppr4 T A 3: 117,115,869 (GRCm39) T605S probably benign Het
Poglut1 C A 16: 38,363,278 (GRCm39) W167L possibly damaging Het
Pou2f1 G T 1: 165,729,867 (GRCm39) R162S probably damaging Het
Ptprf A G 4: 118,080,417 (GRCm39) probably benign Het
Reln C A 5: 22,244,563 (GRCm39) G805V possibly damaging Het
Rexo2 A G 9: 48,385,747 (GRCm39) S126P probably damaging Het
Robo4 A G 9: 37,322,400 (GRCm39) S844G probably damaging Het
Scn7a A G 2: 66,513,671 (GRCm39) probably benign Het
Sdc1 A G 12: 8,840,459 (GRCm39) T75A possibly damaging Het
Slc38a4 C T 15: 96,917,690 (GRCm39) E12K probably benign Het
Spata31h1 T G 10: 82,119,586 (GRCm39) M4475L probably benign Het
Tbck T C 3: 132,448,854 (GRCm39) probably null Het
Tex2 A T 11: 106,459,361 (GRCm39) V23E probably damaging Het
Zfp770 A G 2: 114,026,413 (GRCm39) V552A probably benign Het
Zfyve26 T C 12: 79,296,234 (GRCm39) probably benign Het
Other mutations in Cyp4f14
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
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
Posted On 2011-07-12