Incidental Mutation 'R4486:Cyp4f39'
ID 331637
Institutional Source Beutler Lab
Gene Symbol Cyp4f39
Ensembl Gene ENSMUSG00000061126
Gene Name cytochrome P450, family 4, subfamily f, polypeptide 39
Synonyms 4732474A20Rik
MMRRC Submission 041742-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.340) question?
Stock # R4486 (G1)
Quality Score 225
Status Validated
Chromosome 17
Chromosomal Location 32671697-32712294 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 32702428 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 308 (D308E)
Ref Sequence ENSEMBL: ENSMUSP00000003413 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000003413]
AlphaFold Q8BGU0
Predicted Effect probably damaging
Transcript: ENSMUST00000003413
AA Change: D308E

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000003413
Gene: ENSMUSG00000061126
AA Change: D308E

DomainStartEndE-ValueType
transmembrane domain 18 40 N/A INTRINSIC
Pfam:p450 60 525 5.8e-124 PFAM
Meta Mutation Damage Score 0.7308 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 97.0%
  • 20x: 94.7%
Validation Efficiency 94% (45/48)
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
Abcd2 A G 15: 91,062,486 (GRCm39) V484A probably damaging Het
Adam22 A T 5: 8,230,227 (GRCm39) probably benign Het
Adamts18 G T 8: 114,439,825 (GRCm39) P923T probably benign Het
Ank3 C T 10: 69,837,804 (GRCm39) T1604I possibly damaging Het
Armc10 A G 5: 21,858,432 (GRCm39) Q159R probably damaging Het
Arnt2 T A 7: 83,924,553 (GRCm39) T425S probably benign Het
B4galt3 A G 1: 171,099,343 (GRCm39) T36A possibly damaging Het
Bbx A G 16: 50,020,777 (GRCm39) V799A probably damaging Het
Bud23 T C 5: 135,092,779 (GRCm39) probably null Het
Cnga2 T A X: 71,049,733 (GRCm39) F133I possibly damaging Het
Crispld1 A G 1: 17,823,102 (GRCm39) T390A probably benign Het
Dnah6 A G 6: 73,015,729 (GRCm39) V3584A probably damaging Het
Ecpas A G 4: 58,820,086 (GRCm39) probably benign Het
Frk T C 10: 34,484,377 (GRCm39) I450T probably benign Het
Grm6 T C 11: 50,750,816 (GRCm39) S660P probably damaging Het
Hao2 T A 3: 98,789,341 (GRCm39) I116F probably damaging Het
Hyi G A 4: 118,219,674 (GRCm39) G237D probably damaging Het
Jrkl T C 9: 13,245,376 (GRCm39) N95S probably benign Het
Kifbp A G 10: 62,398,806 (GRCm39) probably benign Het
Nanog T C 6: 122,689,676 (GRCm39) probably null Het
Ngf G A 3: 102,428,015 (GRCm39) D255N probably damaging Het
Nlrp4e A G 7: 23,020,652 (GRCm39) I380V probably benign Het
Or52e7 T C 7: 104,684,510 (GRCm39) F35S probably benign Het
Or6c76b T C 10: 129,692,567 (GRCm39) F60S probably damaging Het
Pcdha3 T C 18: 37,080,404 (GRCm39) V382A probably damaging Het
Pla2g4c T A 7: 13,071,676 (GRCm39) N165K probably benign Het
Rexo5 T C 7: 119,424,800 (GRCm39) I362T probably benign Het
Rpl7a-ps3 G A 15: 36,308,429 (GRCm39) noncoding transcript Het
Rpusd2 T C 2: 118,865,705 (GRCm39) V134A probably damaging Het
Serpina1c T A 12: 103,863,259 (GRCm39) probably null Het
Slc6a19 A T 13: 73,829,836 (GRCm39) I606N probably damaging Het
Smchd1 T C 17: 71,714,230 (GRCm39) T878A probably benign Het
Tas2r143 A G 6: 42,377,628 (GRCm39) M153V probably benign Het
Thrb G T 14: 17,925,640 (GRCm38) M1I probably null Het
Trbc2 A G 6: 41,523,814 (GRCm39) probably benign Het
Trim37 T A 11: 87,087,651 (GRCm39) S587R probably benign Het
Ulbp1 T A 10: 7,397,397 (GRCm39) H151L probably benign Het
Vmn2r54 A T 7: 12,366,199 (GRCm39) L245* probably null Het
Vmn2r78 A C 7: 86,569,959 (GRCm39) probably null Het
Xlr5b T C X: 72,201,504 (GRCm39) probably null Het
Xrcc4 A C 13: 90,140,707 (GRCm39) S167R possibly damaging Het
Zfp994 C T 17: 22,420,541 (GRCm39) C136Y 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
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
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
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
Predicted Primers PCR Primer
(F):5'- ATACCGCTTGCATCACTACC -3'
(R):5'- GTTTCACAGGACAAACCACATG -3'

Sequencing Primer
(F):5'- GCATCACTACCTGGATTTCATG -3'
(R):5'- AACCACATGCTAGACTATAATTACAC -3'
Posted On 2015-07-21