Incidental Mutation 'R2212:Cyp4f39'
ID 239481
Institutional Source Beutler Lab
Gene Symbol Cyp4f39
Ensembl Gene ENSMUSG00000061126
Gene Name cytochrome P450, family 4, subfamily f, polypeptide 39
Synonyms 4732474A20Rik
MMRRC Submission 040214-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.340) question?
Stock # R2212 (G1)
Quality Score 225
Status Not validated
Chromosome 17
Chromosomal Location 32671697-32712294 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 32706037 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Valine at position 376 (E376V)
Ref Sequence ENSEMBL: ENSMUSP00000003413 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000003413]
AlphaFold Q8BGU0
Predicted Effect possibly damaging
Transcript: ENSMUST00000003413
AA Change: E376V

PolyPhen 2 Score 0.617 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000003413
Gene: ENSMUSG00000061126
AA Change: E376V

DomainStartEndE-ValueType
transmembrane domain 18 40 N/A INTRINSIC
Pfam:p450 60 525 5.8e-124 PFAM
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 97.2%
  • 20x: 94.9%
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: 64 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2700062C07Rik A G 18: 24,603,977 (GRCm39) Y6C probably damaging Het
3425401B19Rik T A 14: 32,383,559 (GRCm39) Q802L probably benign Het
Adarb2 T C 13: 8,802,654 (GRCm39) F643S probably damaging Het
Angptl4 A G 17: 33,994,392 (GRCm39) I401T probably damaging Het
Ap2a2 T A 7: 141,178,689 (GRCm39) N105K probably benign Het
Atp8b4 C A 2: 126,217,677 (GRCm39) W613L probably damaging Het
Cibar1 A G 4: 12,171,696 (GRCm39) probably null Het
Coq10a A G 10: 128,200,998 (GRCm39) V93A possibly damaging Het
Deup1 A T 9: 15,511,139 (GRCm39) D213E probably benign Het
Ehmt2 A G 17: 35,118,341 (GRCm39) S39G probably benign Het
Eya1 T A 1: 14,344,433 (GRCm39) probably null Het
Fcna G C 2: 25,517,505 (GRCm39) P49A probably damaging Het
Flnb AAGGAG AAG 14: 7,881,652 (GRCm38) probably benign Het
Fscn2 G T 11: 120,252,417 (GRCm39) probably benign Het
Gckr T A 5: 31,458,211 (GRCm39) probably null Het
Golgb1 A G 16: 36,707,709 (GRCm39) K68E probably damaging Het
H2-M11 G A 17: 36,859,822 (GRCm39) V272M probably damaging Het
Hace1 T A 10: 45,524,771 (GRCm39) D234E possibly damaging Het
Il18r1 A T 1: 40,530,227 (GRCm39) D318V probably damaging Het
Il4i1 T C 7: 44,486,082 (GRCm39) L22P probably damaging Het
Kcnq3 A T 15: 65,892,142 (GRCm39) F411Y probably benign Het
Kcnt2 A G 1: 140,458,538 (GRCm39) Y775C probably damaging Het
Krt84 A C 15: 101,440,973 (GRCm39) V73G probably benign Het
Lcp2 A C 11: 34,020,995 (GRCm39) D117A probably benign Het
Lemd1 C A 1: 132,156,024 (GRCm39) T22K probably benign Het
Mdm4 T C 1: 132,922,260 (GRCm39) D294G probably damaging Het
Mep1a G A 17: 43,788,154 (GRCm39) A634V probably benign Het
Myh15 A G 16: 48,959,095 (GRCm39) D989G probably benign Het
Myo1g G T 11: 6,467,870 (GRCm39) H188Q possibly damaging Het
Nsmaf C A 4: 6,396,732 (GRCm39) L918F probably damaging Het
Or10d4 T A 9: 39,580,524 (GRCm39) M57K probably damaging Het
Or2v2 C T 11: 49,004,043 (GRCm39) C170Y probably damaging Het
Or51f5 T C 7: 102,423,962 (GRCm39) L77P possibly damaging Het
Or51q1 T C 7: 103,628,609 (GRCm39) L76P probably damaging Het
Pfkfb2 A T 1: 130,635,269 (GRCm39) N97K probably damaging Het
Phlda1 A T 10: 111,343,029 (GRCm39) E255V probably damaging Het
Pla2g4f T C 2: 120,133,587 (GRCm39) S579G probably benign Het
Plcz1 C T 6: 139,947,807 (GRCm39) R525Q probably damaging Het
Ppargc1b G A 18: 61,444,291 (GRCm39) Q291* probably null Het
Ppef2 T G 5: 92,376,581 (GRCm39) S649R probably damaging Het
Ppp1r3b A G 8: 35,851,379 (GRCm39) T73A possibly damaging Het
Prss43 G C 9: 110,658,532 (GRCm39) Q277H probably damaging Het
Rusc2 T G 4: 43,415,935 (GRCm39) S414A probably damaging Het
Serpina3j G A 12: 104,280,985 (GRCm39) D53N probably damaging Het
Sez6l A G 5: 112,623,227 (GRCm39) L108P possibly damaging Het
Slc1a7 A G 4: 107,868,191 (GRCm39) E497G probably benign Het
Spag8 T A 4: 43,651,606 (GRCm39) S423C probably damaging Het
Spata13 A G 14: 60,944,172 (GRCm39) T522A probably benign Het
Spryd3 A G 15: 102,038,711 (GRCm39) probably null Het
Sry T A Y: 2,663,339 (GRCm39) N107I probably damaging Het
St6galnac1 A G 11: 116,656,682 (GRCm39) W486R probably damaging Het
Syt1 G T 10: 108,340,275 (GRCm39) P348T possibly damaging Het
Taok2 T C 7: 126,470,030 (GRCm39) I933V possibly damaging Het
Tex9 C A 9: 72,385,040 (GRCm39) Q265H possibly damaging Het
Tmem63a G A 1: 180,790,679 (GRCm39) D446N possibly damaging Het
Trim59 T C 3: 68,944,876 (GRCm39) T155A probably benign Het
Trim69 T C 2: 122,009,125 (GRCm39) V395A probably benign Het
Tusc1 C A 4: 93,223,173 (GRCm39) R162L probably damaging Het
Ubash3a A T 17: 31,437,008 (GRCm39) Q208H probably damaging Het
Ubn2 A G 6: 38,475,674 (GRCm39) T1211A probably benign Het
Vmn2r110 A T 17: 20,794,209 (GRCm39) probably null Het
Vrk3 C T 7: 44,424,866 (GRCm39) T427M probably benign Het
Zfyve28 C T 5: 34,357,028 (GRCm39) M723I probably benign Het
Zmynd8 A T 2: 165,657,371 (GRCm39) M533K 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
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
Predicted Primers PCR Primer
(F):5'- AAGAAGTGCCACCATCCTGC -3'
(R):5'- AGCCACTGAATTTGAGGGC -3'

Sequencing Primer
(F):5'- CCATCCTGCTGTGGGGGAATATC -3'
(R):5'- TGTCCTGGAAACTGCTGAAC -3'
Posted On 2014-10-15