Incidental Mutation 'IGL02477:Cyp4f39'
ID 294983
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cyp4f39
Ensembl Gene ENSMUSG00000061126
Gene Name cytochrome P450, family 4, subfamily f, polypeptide 39
Synonyms 4732474A20Rik
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.340) question?
Stock # IGL02477
Quality Score
Status
Chromosome 17
Chromosomal Location 32671697-32712294 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 32708619 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 389 (T389A)
Ref Sequence ENSEMBL: ENSMUSP00000003413 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000003413]
AlphaFold Q8BGU0
Predicted Effect probably benign
Transcript: ENSMUST00000003413
AA Change: T389A

PolyPhen 2 Score 0.400 (Sensitivity: 0.89; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000003413
Gene: ENSMUSG00000061126
AA Change: T389A

DomainStartEndE-ValueType
transmembrane domain 18 40 N/A INTRINSIC
Pfam:p450 60 525 5.8e-124 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 gene is part of a cluster of cytochrome P450 genes on chromosome 19 and encodes an enzyme thought to play a role in the 12(R)-lipoxygenase pathway. Mutations in this gene are the cause of ichthyosis lamellar type 3. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921539E11Rik T A 4: 103,127,943 (GRCm39) I61F probably benign Het
Abr T C 11: 76,352,186 (GRCm39) K280E probably damaging Het
Acaca T C 11: 84,197,994 (GRCm39) probably benign Het
Cep131 C T 11: 119,961,406 (GRCm39) V582I probably damaging Het
Colec12 A G 18: 9,859,858 (GRCm39) N613D unknown Het
D630003M21Rik T C 2: 158,059,408 (GRCm39) N164S probably benign Het
Eef1akmt2 A T 7: 132,452,318 (GRCm39) probably null Het
Elp3 T C 14: 65,800,760 (GRCm39) T283A probably benign Het
Fads3 C A 19: 10,033,806 (GRCm39) P397Q probably damaging Het
Fam171a1 T C 2: 3,203,612 (GRCm39) V198A possibly damaging Het
Fam171a2 T C 11: 102,330,854 (GRCm39) I208M probably benign Het
Fbxw17 G A 13: 50,577,853 (GRCm39) V119M possibly damaging Het
Gtf2ird1 G A 5: 134,408,832 (GRCm39) T140M probably damaging Het
Hspa14 C T 2: 3,497,661 (GRCm39) S277N probably damaging Het
Hspg2 C T 4: 137,271,823 (GRCm39) probably benign Het
Ing2 G T 8: 48,122,303 (GRCm39) R82S possibly damaging Het
Kat6a A G 8: 23,419,316 (GRCm39) Y693C probably damaging Het
Kcna7 A G 7: 45,059,047 (GRCm39) M445V probably benign Het
Lifr T G 15: 7,216,404 (GRCm39) I793S probably damaging Het
Lrrd1 T A 5: 3,915,770 (GRCm39) M789K probably benign Het
Myom3 T A 4: 135,506,679 (GRCm39) L484Q probably benign Het
Nav2 T A 7: 49,232,623 (GRCm39) M1860K probably damaging Het
Nipbl C T 15: 8,353,131 (GRCm39) probably null Het
Nsun7 T A 5: 66,433,992 (GRCm39) I214K probably damaging Het
Or5k17 T C 16: 58,746,126 (GRCm39) I269M probably benign Het
Or8c20 C T 9: 38,260,421 (GRCm39) S8L probably benign Het
Osm T A 11: 4,189,604 (GRCm39) N129K probably damaging Het
Plce1 C T 19: 38,707,997 (GRCm39) probably benign Het
Plch1 A G 3: 63,660,714 (GRCm39) F302L probably damaging Het
Pld2 T C 11: 70,431,751 (GRCm39) V27A possibly damaging Het
Prex2 A G 1: 11,274,378 (GRCm39) D1350G probably benign Het
Psme4 T A 11: 30,792,083 (GRCm39) V1190D probably damaging Het
Sema3g G T 14: 30,949,823 (GRCm39) R668L probably damaging Het
Sprr2f T A 3: 92,273,204 (GRCm39) M1K probably null Het
Sult6b2 G A 6: 142,747,447 (GRCm39) P101S probably damaging Het
Trem3 G A 17: 48,556,864 (GRCm39) V112I probably benign Het
Ttll9 T A 2: 152,842,117 (GRCm39) F324I possibly damaging Het
Ttn T A 2: 76,557,104 (GRCm39) D29967V probably damaging Het
Ubr4 A G 4: 139,163,516 (GRCm39) K2639E probably damaging Het
Vwce T C 19: 10,641,982 (GRCm39) probably null Het
Zbtb14 T A 17: 69,694,690 (GRCm39) D129E probably benign Het
Zmym6 C T 4: 126,972,295 (GRCm39) Q16* probably null Het
Other mutations in Cyp4f39
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00789:Cyp4f39 APN 17 32,689,886 (GRCm39) missense probably damaging 1.00
IGL00822:Cyp4f39 APN 17 32,689,806 (GRCm39) missense probably benign 0.03
IGL00857:Cyp4f39 APN 17 32,708,631 (GRCm39) missense probably benign 0.08
IGL01380:Cyp4f39 APN 17 32,700,832 (GRCm39) missense probably damaging 1.00
IGL01532:Cyp4f39 APN 17 32,689,928 (GRCm39) splice site probably benign
IGL01756:Cyp4f39 APN 17 32,702,415 (GRCm39) nonsense probably null
IGL02090:Cyp4f39 APN 17 32,689,932 (GRCm39) splice site probably benign
IGL02824:Cyp4f39 APN 17 32,687,659 (GRCm39) critical splice donor site probably null
N/A:Cyp4f39 UTSW 17 32,687,655 (GRCm39) missense probably benign 0.03
R0145:Cyp4f39 UTSW 17 32,705,934 (GRCm39) missense possibly damaging 0.92
R0288:Cyp4f39 UTSW 17 32,711,410 (GRCm39) missense probably benign 0.01
R1676:Cyp4f39 UTSW 17 32,701,176 (GRCm39) missense probably benign 0.41
R1677:Cyp4f39 UTSW 17 32,711,304 (GRCm39) missense probably benign 0.30
R1874:Cyp4f39 UTSW 17 32,702,298 (GRCm39) missense probably damaging 1.00
R1920:Cyp4f39 UTSW 17 32,702,265 (GRCm39) missense probably benign 0.00
R2049:Cyp4f39 UTSW 17 32,701,112 (GRCm39) missense probably benign 0.41
R2139:Cyp4f39 UTSW 17 32,710,163 (GRCm39) missense probably benign 0.01
R2212:Cyp4f39 UTSW 17 32,706,037 (GRCm39) missense possibly damaging 0.62
R3416:Cyp4f39 UTSW 17 32,708,716 (GRCm39) missense possibly damaging 0.72
R3417:Cyp4f39 UTSW 17 32,708,716 (GRCm39) missense possibly damaging 0.72
R4486:Cyp4f39 UTSW 17 32,702,428 (GRCm39) missense probably damaging 1.00
R5023:Cyp4f39 UTSW 17 32,700,078 (GRCm39) missense probably damaging 1.00
R5523:Cyp4f39 UTSW 17 32,689,807 (GRCm39) missense probably benign 0.10
R5714:Cyp4f39 UTSW 17 32,700,799 (GRCm39) missense probably damaging 1.00
R6010:Cyp4f39 UTSW 17 32,701,160 (GRCm39) missense probably damaging 0.99
R6312:Cyp4f39 UTSW 17 32,702,268 (GRCm39) missense probably benign 0.00
R6477:Cyp4f39 UTSW 17 32,700,791 (GRCm39) missense probably damaging 0.99
R6950:Cyp4f39 UTSW 17 32,711,280 (GRCm39) missense probably damaging 1.00
R7228:Cyp4f39 UTSW 17 32,710,803 (GRCm39) missense probably damaging 1.00
R7311:Cyp4f39 UTSW 17 32,708,629 (GRCm39) missense probably damaging 1.00
R7341:Cyp4f39 UTSW 17 32,705,928 (GRCm39) missense probably damaging 1.00
R7345:Cyp4f39 UTSW 17 32,705,753 (GRCm39) missense probably damaging 1.00
R7405:Cyp4f39 UTSW 17 32,700,789 (GRCm39) missense probably benign 0.01
R7522:Cyp4f39 UTSW 17 32,705,946 (GRCm39) missense probably damaging 1.00
R7842:Cyp4f39 UTSW 17 32,702,291 (GRCm39) missense probably benign 0.01
R8223:Cyp4f39 UTSW 17 32,689,839 (GRCm39) missense probably benign 0.10
R8315:Cyp4f39 UTSW 17 32,701,176 (GRCm39) missense probably benign 0.41
R8469:Cyp4f39 UTSW 17 32,711,340 (GRCm39) missense probably damaging 1.00
R8789:Cyp4f39 UTSW 17 32,710,848 (GRCm39) missense probably damaging 1.00
R8865:Cyp4f39 UTSW 17 32,702,271 (GRCm39) missense probably damaging 1.00
R9049:Cyp4f39 UTSW 17 32,705,965 (GRCm39) missense probably damaging 0.99
R9115:Cyp4f39 UTSW 17 32,711,296 (GRCm39) missense probably damaging 1.00
R9402:Cyp4f39 UTSW 17 32,710,183 (GRCm39) critical splice donor site probably null
R9571:Cyp4f39 UTSW 17 32,702,196 (GRCm39) missense probably damaging 1.00
R9600:Cyp4f39 UTSW 17 32,705,920 (GRCm39) missense probably damaging 1.00
R9641:Cyp4f39 UTSW 17 32,705,982 (GRCm39) missense probably damaging 0.99
Posted On 2015-04-16