Incidental Mutation 'IGL01756:Cyp4f39'
ID153443
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cyp4f39
Ensembl Gene ENSMUSG00000061126
Gene Namecytochrome P450, family 4, subfamily f, polypeptide 39
Synonyms4732474A20Rik
Accession Numbers

Genbank: NM_177307; MGI: 2445210

Is this an essential gene? Possibly non essential (E-score: 0.292) question?
Stock #IGL01756
Quality Score
Status
Chromosome17
Chromosomal Location32468462-32492479 bp(+) (GRCm38)
Type of Mutationnonsense
DNA Base Change (assembly) T to A at 32483441 bp
ZygosityHeterozygous
Amino Acid Change Leucine to Stop codon at position 304 (L304*)
Ref Sequence ENSEMBL: ENSMUSP00000003413 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000003413]
Predicted Effect probably null
Transcript: ENSMUST00000003413
AA Change: L304*
SMART Domains Protein: ENSMUSP00000003413
Gene: ENSMUSG00000061126
AA Change: L304*

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: 21 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Atrnl1 A G 19: 57,652,948 N343D probably benign Het
Birc6 T C 17: 74,640,208 V2974A probably benign Het
Cngb3 A C 4: 19,367,850 D253A probably damaging Het
Cog4 A T 8: 110,853,759 K154* probably null Het
Col6a3 T A 1: 90,779,162 E2076D unknown Het
Cox7a2 T G 9: 79,758,555 T15P probably benign Het
Ddx58 A T 4: 40,209,934 N666K probably damaging Het
Gucy2e A T 11: 69,232,852 L407Q probably damaging Het
Hectd4 T C 5: 121,344,824 I3146T probably benign Het
Hipk4 T A 7: 27,528,543 L238* probably null Het
Igf2r C T 17: 12,683,822 R2447Q probably benign Het
Itgb4 G A 11: 115,988,926 V635I probably damaging Het
Klkb1 T A 8: 45,272,324 K526M probably damaging Het
Ninl T C 2: 150,979,516 E66G probably damaging Het
Pde8b A G 13: 95,046,387 S288P probably damaging Het
Sar1a T A 10: 61,686,456 M109K probably benign Het
Snx18 T A 13: 113,617,516 T294S probably benign Het
Srek1 C T 13: 103,760,582 D84N probably damaging Het
Trem1 G A 17: 48,237,113 W55* probably null Het
Tsnaxip1 A T 8: 105,842,788 probably benign Het
Vmn2r43 A G 7: 8,255,584 L210S probably benign Het
Other mutations in Cyp4f39
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00789:Cyp4f39 APN 17 32470912 missense probably damaging 1.00
IGL00822:Cyp4f39 APN 17 32470832 missense probably benign 0.03
IGL00857:Cyp4f39 APN 17 32489657 missense probably benign 0.08
IGL01380:Cyp4f39 APN 17 32481858 missense probably damaging 1.00
IGL01532:Cyp4f39 APN 17 32470954 splice site probably benign
IGL02090:Cyp4f39 APN 17 32470958 splice site probably benign
IGL02477:Cyp4f39 APN 17 32489645 missense probably benign 0.40
IGL02824:Cyp4f39 APN 17 32468685 critical splice donor site probably null
N/A:Cyp4f39 UTSW 17 32468681 missense probably benign 0.03
R0145:Cyp4f39 UTSW 17 32486960 missense possibly damaging 0.92
R0288:Cyp4f39 UTSW 17 32492436 missense probably benign 0.01
R1676:Cyp4f39 UTSW 17 32482202 missense probably benign 0.41
R1677:Cyp4f39 UTSW 17 32492330 missense probably benign 0.30
R1874:Cyp4f39 UTSW 17 32483324 missense probably damaging 1.00
R1920:Cyp4f39 UTSW 17 32483291 missense probably benign 0.00
R2049:Cyp4f39 UTSW 17 32482138 missense probably benign 0.41
R2139:Cyp4f39 UTSW 17 32491189 missense probably benign 0.01
R2212:Cyp4f39 UTSW 17 32487063 missense possibly damaging 0.62
R3416:Cyp4f39 UTSW 17 32489742 missense possibly damaging 0.72
R3417:Cyp4f39 UTSW 17 32489742 missense possibly damaging 0.72
R4486:Cyp4f39 UTSW 17 32483454 missense probably damaging 1.00
R5023:Cyp4f39 UTSW 17 32481104 missense probably damaging 1.00
R5523:Cyp4f39 UTSW 17 32470833 missense probably benign 0.10
R5714:Cyp4f39 UTSW 17 32481825 missense probably damaging 1.00
R6010:Cyp4f39 UTSW 17 32482186 missense probably damaging 0.99
R6312:Cyp4f39 UTSW 17 32483294 missense probably benign 0.00
R6477:Cyp4f39 UTSW 17 32481817 missense probably damaging 0.99
R6950:Cyp4f39 UTSW 17 32492306 missense probably damaging 1.00
R7228:Cyp4f39 UTSW 17 32491829 missense probably damaging 1.00
R7311:Cyp4f39 UTSW 17 32489655 missense probably damaging 1.00
R7341:Cyp4f39 UTSW 17 32486954 missense probably damaging 1.00
R7345:Cyp4f39 UTSW 17 32486779 missense probably damaging 1.00
R7405:Cyp4f39 UTSW 17 32481815 missense probably benign 0.01
R7522:Cyp4f39 UTSW 17 32486972 missense probably damaging 1.00
Posted On2014-02-04