Incidental Mutation 'IGL00857:Cyp4f39'
ID 10018
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 # IGL00857
Quality Score
Status
Chromosome 17
Chromosomal Location 32671697-32712294 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 32708631 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Valine at position 393 (I393V)
Ref Sequence ENSEMBL: ENSMUSP00000003413 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000003413]
AlphaFold Q8BGU0
Predicted Effect probably benign
Transcript: ENSMUST00000003413
AA Change: I393V

PolyPhen 2 Score 0.080 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000003413
Gene: ENSMUSG00000061126
AA Change: I393V

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: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acr A G 15: 89,454,205 (GRCm39) T181A probably benign Het
Anks3 T A 16: 4,771,793 (GRCm39) H77L possibly damaging Het
Cacna1d A T 14: 30,072,638 (GRCm39) N112K possibly damaging Het
Cd164 A G 10: 41,404,691 (GRCm39) T150A probably benign Het
Cfap57 C T 4: 118,470,120 (GRCm39) probably null Het
Cntnap2 C A 6: 47,026,358 (GRCm39) N61K probably benign Het
Cstdc1 A G 2: 148,624,170 (GRCm39) D48G possibly damaging Het
Dcaf11 A T 14: 55,798,742 (GRCm39) probably benign Het
Defb7 G A 8: 19,547,594 (GRCm39) R33Q possibly damaging Het
Dmxl2 T C 9: 54,283,604 (GRCm39) Y2743C probably benign Het
Enpp2 A G 15: 54,739,046 (GRCm39) probably null Het
Fam135b T A 15: 71,335,465 (GRCm39) E576D probably benign Het
Gfpt1 T A 6: 87,033,145 (GRCm39) N123K probably damaging Het
Hnmt T C 2: 23,893,795 (GRCm39) D233G probably benign Het
Hsd3b2 T A 3: 98,618,859 (GRCm39) E362V possibly damaging Het
Hsdl2 T A 4: 59,617,735 (GRCm39) N487K probably benign Het
Hspa14 T C 2: 3,503,796 (GRCm39) Y83C probably damaging Het
Itm2b T C 14: 73,602,056 (GRCm39) N214S probably benign Het
Krt86 C T 15: 101,371,741 (GRCm39) H104Y probably benign Het
Myocd A T 11: 65,069,662 (GRCm39) V726D possibly damaging Het
Ncapg T A 5: 45,833,927 (GRCm39) probably null Het
Nrdc A T 4: 108,911,199 (GRCm39) I774F probably damaging Het
Pot1a T C 6: 25,744,627 (GRCm39) I626V probably benign Het
Prkab2 C T 3: 97,569,659 (GRCm39) A75V possibly damaging Het
Sdr9c7 A G 10: 127,734,728 (GRCm39) Q72R probably benign Het
Slc16a7 A C 10: 125,066,803 (GRCm39) Y279D probably benign Het
Slc8a1 T A 17: 81,955,308 (GRCm39) T577S probably benign Het
Slitrk3 G A 3: 72,957,174 (GRCm39) L533F probably damaging Het
Tent5a C A 9: 85,206,806 (GRCm39) V331L possibly damaging Het
Tmeff1 T C 4: 48,610,435 (GRCm39) V102A probably damaging Het
Ttn G A 2: 76,583,099 (GRCm39) T22598I probably damaging Het
Ube4a C A 9: 44,843,684 (GRCm39) G977W probably damaging 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
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
IGL02477:Cyp4f39 APN 17 32,708,619 (GRCm39) missense probably benign 0.40
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 2012-12-06