Incidental Mutation 'R7405:Cyp4f39'
ID 574545
Institutional Source Beutler Lab
Gene Symbol Cyp4f39
Ensembl Gene ENSMUSG00000061126
Gene Name cytochrome P450, family 4, subfamily f, polypeptide 39
Synonyms 4732474A20Rik
MMRRC Submission 045376-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.340) question?
Stock # R7405 (G1)
Quality Score 225.009
Status Not validated
Chromosome 17
Chromosomal Location 32671697-32712294 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 32700789 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Glycine at position 153 (S153G)
Ref Sequence ENSEMBL: ENSMUSP00000003413 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000003413]
AlphaFold Q8BGU0
Predicted Effect probably benign
Transcript: ENSMUST00000003413
AA Change: S153G

PolyPhen 2 Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000003413
Gene: ENSMUSG00000061126
AA Change: S153G

DomainStartEndE-ValueType
transmembrane domain 18 40 N/A INTRINSIC
Pfam:p450 60 525 5.8e-124 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.4%
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: 73 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700010I14Rik G T 17: 9,220,649 (GRCm39) V383L probably damaging Het
4930507D05Rik C A 10: 62,285,563 (GRCm39) H96N unknown Het
5730480H06Rik T C 5: 48,545,458 (GRCm39) I235T possibly damaging Het
Abcb11 A G 2: 69,117,963 (GRCm39) Y472H probably damaging Het
Adam39 A T 8: 41,277,659 (GRCm39) I17L probably benign Het
Aire T C 10: 77,870,447 (GRCm39) H458R probably benign Het
Ap3d1 T C 10: 80,577,734 (GRCm39) D31G probably benign Het
Atad2b T A 12: 4,993,232 (GRCm39) H250Q probably benign Het
Bnip5 G A 17: 29,124,298 (GRCm39) R335W probably damaging Het
Borcs5 C A 6: 134,662,945 (GRCm39) T74N probably benign Het
Btbd16 C T 7: 130,407,586 (GRCm39) T292I probably benign Het
Catsperd G A 17: 56,939,335 (GRCm39) V55M possibly damaging Het
Cfap107 T C 4: 144,146,323 (GRCm39) N110S probably damaging Het
Ctr9 T C 7: 110,642,921 (GRCm39) F462S possibly damaging Het
Ddo T C 10: 40,523,993 (GRCm39) C328R possibly damaging Het
Ddr1 A G 17: 36,000,992 (GRCm39) V251A probably damaging Het
Dis3l A G 9: 64,221,986 (GRCm39) F475L probably damaging Het
Dkk4 G A 8: 23,115,859 (GRCm39) V99M probably benign Het
Dync1h1 C T 12: 110,600,654 (GRCm39) A1938V probably damaging Het
Ecel1 A T 1: 87,081,238 (GRCm39) probably null Het
Fbxo7 T A 10: 85,880,445 (GRCm39) Y377N probably damaging Het
Fbxw24 T C 9: 109,436,136 (GRCm39) I299V possibly damaging Het
Fkbp10 C T 11: 100,306,707 (GRCm39) A33V probably damaging Het
Gabra1 T C 11: 42,045,850 (GRCm39) T87A probably damaging Het
Gm21886 ACTCACTGAGGCCTGCAGACAGTAGGTGCTCACTGAGGCCTGCAGACAGTAGGTGCTCACTGAGGCCTGCAGACAGTAGGTGCTCACTGAGACCTGCAGACAGTAGGTGCTCACTGAGACCTGCAGACAGTAGGTGCTCACTGAGG ACTCACTGAGGCCTGCAGACAGTAGGTGCTCACTGAGGCCTGCAGACAGTAGGTGCTCACTGAGACCTGCAGACAGTAGGTGCTCACTGAGACCTGCAGACAGTAGGTGCTCACTGAGG 18: 80,133,040 (GRCm39) probably benign Het
Golga3 A T 5: 110,356,312 (GRCm39) I1000F probably damaging Het
Grid2ip T C 5: 143,366,199 (GRCm39) I563T probably benign Het
Gsx1 T C 5: 147,125,943 (GRCm39) S82P possibly damaging Het
Heg1 A G 16: 33,583,819 (GRCm39) K34E possibly damaging Het
Kank1 T A 19: 25,387,683 (GRCm39) L452* probably null Het
Lce1k A T 3: 92,714,181 (GRCm39) M1K probably null Het
Lcmt2 A G 2: 120,969,868 (GRCm39) I185T probably benign Het
Lrp1 T C 10: 127,417,620 (GRCm39) D1046G possibly damaging Het
Lrrc37 A T 11: 103,505,987 (GRCm39) Y1994N probably benign Het
Mast3 A T 8: 71,238,815 (GRCm39) D496E probably damaging Het
Mst1r C T 9: 107,792,321 (GRCm39) S925F possibly damaging Het
Mterf2 C T 10: 84,956,360 (GRCm39) G88D probably damaging Het
Mthfd1 T C 12: 76,358,648 (GRCm39) V783A probably damaging Het
Mybpc2 A T 7: 44,156,618 (GRCm39) W778R probably damaging Het
Nbea A G 3: 55,712,687 (GRCm39) L2130P possibly damaging Het
Ndst4 A G 3: 125,476,865 (GRCm39) N30S probably benign Het
Nphs1 T C 7: 30,162,253 (GRCm39) V299A possibly damaging Het
Nup107 T C 10: 117,606,320 (GRCm39) D474G probably benign Het
Or10ag56 A C 2: 87,139,339 (GRCm39) I89L probably benign Het
Or10w1 T C 19: 13,632,246 (GRCm39) V151A probably benign Het
Or2w25 T A 11: 59,504,899 (GRCm39) F370I possibly damaging Het
Or7a42 T C 10: 78,791,531 (GRCm39) V164A probably benign Het
Pgap2 T C 7: 101,880,595 (GRCm39) V41A probably benign Het
Plekhh1 C T 12: 79,101,821 (GRCm39) T297I probably benign Het
Plxna4 A T 6: 32,173,254 (GRCm39) Y1226N probably benign Het
Polr3b A G 10: 84,520,043 (GRCm39) D653G probably benign Het
Ppp2r2c T C 5: 37,104,486 (GRCm39) F289L possibly damaging Het
Prickle2 A G 6: 92,435,524 (GRCm39) S82P probably damaging Het
Ptger2 T A 14: 45,226,531 (GRCm39) V37D probably damaging Het
Rasa2 G A 9: 96,448,080 (GRCm39) P526S probably benign Het
Rbm47 A T 5: 66,183,838 (GRCm39) I255N probably damaging Het
Sez6 A T 11: 77,853,717 (GRCm39) T296S probably benign Het
Slc2a9 T A 5: 38,549,167 (GRCm39) I316F probably damaging Het
Slc41a1 T A 1: 131,766,884 (GRCm39) V134D probably damaging Het
Slc5a7 A T 17: 54,604,161 (GRCm39) S2T probably benign Het
Slc9a4 C T 1: 40,640,086 (GRCm39) R293C probably damaging Het
Son CATGGACTCCCAGATGTTAGCAACTAGCTCTATGGACTCCCAGATGTTAGCAACTAGCTCTATGGACTCCCAGATGTTAGCAACCAGCAGTATGGACTCCCAGATGTTAGCAACCAGCAGTATGGACTCCCAGATGTTAGCAACCAGCTCCATGGACTCCCAGATGTTAGCAAC CATGGACTCCCAGATGTTAGCAACTAGCTCTATGGACTCCCAGATGTTAGCAACCAGCAGTATGGACTCCCAGATGTTAGCAACCAGCAGTATGGACTCCCAGATGTTAGCAACCAGCTCCATGGACTCCCAGATGTTAGCAAC 16: 91,453,579 (GRCm39) probably benign Het
Suco A G 1: 161,655,783 (GRCm39) F1039L possibly damaging Het
Sycp1 A G 3: 102,832,543 (GRCm39) Y208H possibly damaging Het
Tpr T C 1: 150,317,878 (GRCm39) S2129P probably benign Het
Trim34b T A 7: 103,985,690 (GRCm39) S442T probably damaging Het
Ttn A T 2: 76,573,690 (GRCm39) Y25734* probably null Het
Uchl5 C T 1: 143,675,752 (GRCm39) Q276* probably null Het
Wrn C G 8: 33,738,994 (GRCm39) W1278S probably benign Het
Yeats2 T A 16: 20,041,663 (GRCm39) D1184E probably damaging Het
Zfat G A 15: 68,056,334 (GRCm39) R241W probably damaging Het
Zfp646 T A 7: 127,477,968 (GRCm39) Y48* probably null Het
Zfp998 T C 13: 66,579,118 (GRCm39) Q455R unknown 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
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
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'- TGATTCTCCAATGGGCTCTAAGC -3'
(R):5'- AGGGACGCTCCACTTCATTG -3'

Sequencing Primer
(F):5'- GTGAAACAGGAGCCATACTGATTATC -3'
(R):5'- ACTTCATTGGCGGCCTCAC -3'
Posted On 2019-09-13