Incidental Mutation 'R0086:Cyp2c39'
ID19920
Institutional Source Beutler Lab
Gene Symbol Cyp2c39
Ensembl Gene ENSMUSG00000025003
Gene Namecytochrome P450, family 2, subfamily c, polypeptide 39
Synonyms
MMRRC Submission 038373-MU
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.089) question?
Stock #R0086 (G1)
Quality Score225
Status Validated
Chromosome19
Chromosomal Location39510862-39568529 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 39510913 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 15 (I15F)
Ref Sequence ENSEMBL: ENSMUSP00000025968 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025968]
Predicted Effect unknown
Transcript: ENSMUST00000025968
AA Change: I15F
SMART Domains Protein: ENSMUSP00000025968
Gene: ENSMUSG00000025003
AA Change: I15F

DomainStartEndE-ValueType
low complexity region 3 19 N/A INTRINSIC
Pfam:p450 30 487 1.1e-163 PFAM
Meta Mutation Damage Score 0.0869 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.0%
  • 10x: 94.6%
  • 20x: 86.6%
Validation Efficiency 96% (91/95)
Allele List at MGI
Other mutations in this stock
Total: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930407I10Rik T A 15: 82,062,601 V233D probably benign Het
Abcg8 T C 17: 84,692,771 V252A probably damaging Het
Adam39 C T 8: 40,826,360 T596I possibly damaging Het
Agap2 C A 10: 127,087,882 probably null Het
Ap4b1 T G 3: 103,814,860 V50G probably damaging Het
Atp13a1 T A 8: 69,797,774 I381N possibly damaging Het
Bcl2 G A 1: 106,712,562 R107C probably damaging Het
Birc6 T C 17: 74,593,166 V1113A possibly damaging Het
C1galt1 T A 6: 7,867,051 probably benign Het
Capza2 A G 6: 17,660,774 K158E probably damaging Het
Cenpe C T 3: 135,264,424 probably benign Het
Cercam T C 2: 29,871,064 L42P probably damaging Het
Cfap54 T C 10: 93,028,594 E807G possibly damaging Het
Cog6 A G 3: 52,993,570 V157A probably damaging Het
Cts6 A T 13: 61,196,457 probably benign Het
Dock7 A T 4: 98,945,144 V1970D probably damaging Het
Exph5 A G 9: 53,337,930 D73G possibly damaging Het
Gjc2 A T 11: 59,176,846 M270K probably benign Het
Gns G A 10: 121,391,473 D463N probably damaging Het
Hoxd8 G T 2: 74,705,932 G129W probably damaging Het
Ina A G 19: 47,023,591 T483A possibly damaging Het
Lmod3 T A 6: 97,247,345 Q505L probably damaging Het
Map3k13 A G 16: 21,914,225 N526D probably damaging Het
Map3k2 A T 18: 32,218,468 I435F probably damaging Het
Mfsd6l A G 11: 68,556,565 T81A probably benign Het
Micall1 T C 15: 79,125,489 probably benign Het
Mkrn2 G T 6: 115,613,335 M217I possibly damaging Het
Myh11 C A 16: 14,224,019 Q720H probably damaging Het
Ncapg A G 5: 45,676,744 probably null Het
Nlrp9a G A 7: 26,558,547 C530Y probably damaging Het
Numb T C 12: 83,795,930 T442A probably damaging Het
Oip5 C T 2: 119,617,929 probably benign Het
Olfr1224-ps1 C T 2: 89,156,476 R233H probably benign Het
Olfr342 A T 2: 36,527,450 I13F possibly damaging Het
Olfr639 A G 7: 104,012,054 I216T probably benign Het
Olfr936 T C 9: 39,046,895 T175A probably benign Het
Pcnx T C 12: 81,992,058 probably benign Het
Pkhd1l1 T A 15: 44,556,008 N2956K possibly damaging Het
Plcl1 T A 1: 55,715,583 W1030R probably damaging Het
Polr2i G A 7: 30,233,086 V73M probably damaging Het
Prr14l T A 5: 32,831,559 probably benign Het
Pxdn G T 12: 30,002,419 R865L possibly damaging Het
Scnn1a T C 6: 125,342,587 probably benign Het
Shkbp1 G T 7: 27,352,026 H203N probably benign Het
Skiv2l2 G T 13: 112,927,328 F10L probably benign Het
Slc22a14 C T 9: 119,222,738 probably benign Het
Snap29 C A 16: 17,428,236 T240K probably damaging Het
Sp2 C A 11: 96,957,427 G457C probably damaging Het
Ssr2 C T 3: 88,576,880 probably benign Het
Synpo2 A T 3: 123,117,104 C297* probably null Het
Tpm3 T A 3: 90,090,092 probably benign Het
Trmt6 CTG C 2: 132,809,017 probably benign Het
Trp63 T C 16: 25,871,087 Y431H probably damaging Het
Tuba3b T A 6: 145,621,160 C376S probably damaging Het
Ubxn4 G A 1: 128,262,904 E256K probably benign Het
Ulk1 G A 5: 110,787,707 probably benign Het
Usp24 T C 4: 106,392,360 S1425P probably damaging Het
Xdh T C 17: 73,884,438 I1335V probably benign Het
Zmynd15 T C 11: 70,464,232 Y352H probably damaging Het
Other mutations in Cyp2c39
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00646:Cyp2c39 APN 19 39513491 splice site probably benign
IGL01806:Cyp2c39 APN 19 39536820 missense probably damaging 1.00
IGL02158:Cyp2c39 APN 19 39568130 missense probably benign
IGL02219:Cyp2c39 APN 19 39568199 utr 3 prime probably benign
IGL02483:Cyp2c39 APN 19 39536787 missense probably damaging 1.00
IGL02490:Cyp2c39 APN 19 39539002 missense probably damaging 1.00
IGL02597:Cyp2c39 APN 19 39560887 nonsense probably null
IGL03089:Cyp2c39 APN 19 39563851 missense probably benign 0.00
IGL03197:Cyp2c39 APN 19 39566917 missense probably damaging 1.00
IGL03392:Cyp2c39 APN 19 39513323 missense probably benign 0.40
R0369:Cyp2c39 UTSW 19 39513635 missense probably damaging 1.00
R0585:Cyp2c39 UTSW 19 39536759 missense probably benign 0.43
R0586:Cyp2c39 UTSW 19 39513490 splice site probably benign
R0906:Cyp2c39 UTSW 19 39510871 start codon destroyed probably null
R1613:Cyp2c39 UTSW 19 39539011 missense probably damaging 0.99
R1711:Cyp2c39 UTSW 19 39566891 missense probably damaging 1.00
R1780:Cyp2c39 UTSW 19 39538851 splice site probably benign
R2208:Cyp2c39 UTSW 19 39560961 missense possibly damaging 0.56
R2327:Cyp2c39 UTSW 19 39538953 missense probably benign 0.07
R3431:Cyp2c39 UTSW 19 39536862 missense probably damaging 0.99
R4847:Cyp2c39 UTSW 19 39560896 missense probably damaging 1.00
R4866:Cyp2c39 UTSW 19 39513576 missense probably benign 0.43
R4900:Cyp2c39 UTSW 19 39513576 missense probably benign 0.43
R4974:Cyp2c39 UTSW 19 39563879 missense probably benign 0.25
R5159:Cyp2c39 UTSW 19 39560934 missense possibly damaging 0.96
R5470:Cyp2c39 UTSW 19 39513530 missense possibly damaging 0.54
R5860:Cyp2c39 UTSW 19 39536826 missense probably damaging 1.00
R6013:Cyp2c39 UTSW 19 39513525 missense probably benign 0.03
R6018:Cyp2c39 UTSW 19 39510992 missense probably damaging 1.00
R6230:Cyp2c39 UTSW 19 39536802 missense probably damaging 1.00
R6261:Cyp2c39 UTSW 19 39568019 missense probably damaging 1.00
R6345:Cyp2c39 UTSW 19 39513171 critical splice acceptor site probably null
R6345:Cyp2c39 UTSW 19 39513172 critical splice acceptor site probably null
R6822:Cyp2c39 UTSW 19 39536817 missense probably damaging 0.98
R6925:Cyp2c39 UTSW 19 39513195 missense probably damaging 1.00
R7578:Cyp2c39 UTSW 19 39510956 missense probably damaging 1.00
R7871:Cyp2c39 UTSW 19 39560961 missense possibly damaging 0.56
R8032:Cyp2c39 UTSW 19 39510982 missense probably benign 0.00
R8293:Cyp2c39 UTSW 19 39563967 missense probably benign 0.03
Predicted Primers PCR Primer
(F):5'- GCTCCGTGAAATGGTCAAGGGTAAA -3'
(R):5'- TGGTAGATTAAGTGGGTAGGGTAACAACAG -3'

Sequencing Primer
(F):5'- TCTCTATCAAAGGGACAAAGTCTAC -3'
(R):5'- CTCTCTTTCTGAAAAGTGACAGC -3'
Posted On2013-04-11