Incidental Mutation 'R6345:Cyp2c39'
ID514139
Institutional Source Beutler Lab
Gene Symbol Cyp2c39
Ensembl Gene ENSMUSG00000025003
Gene Namecytochrome P450, family 2, subfamily c, polypeptide 39
Synonyms
MMRRC Submission
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.063) question?
Stock #R6345 (G1)
Quality Score225.009
Status Validated
Chromosome19
Chromosomal Location39510862-39568529 bp(+) (GRCm38)
Type of Mutationcritical splice acceptor site
DNA Base Change (assembly) A to T at 39513171 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000025968 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025968]
Predicted Effect probably null
Transcript: ENSMUST00000025968
SMART Domains Protein: ENSMUSP00000025968
Gene: ENSMUSG00000025003

DomainStartEndE-ValueType
low complexity region 3 19 N/A INTRINSIC
Pfam:p450 30 487 1.1e-163 PFAM
Meta Mutation Damage Score 0.484 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.7%
  • 20x: 96.5%
Validation Efficiency 100% (61/61)
Allele List at MGI
Other mutations in this stock
Total: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700113H08Rik T C 10: 87,226,051 I121T probably benign Het
4921524L21Rik T A 18: 6,626,399 M137K possibly damaging Het
Angpt4 C A 2: 151,929,434 N223K probably benign Het
Ankrd6 T C 4: 32,810,266 R437G probably damaging Het
Atp9a C T 2: 168,676,173 S264N probably damaging Het
AY358078 A C 14: 51,826,292 Y465S probably damaging Het
Bin3 G A 14: 70,137,227 R235Q probably benign Het
Bsn G A 9: 108,107,355 P3167S unknown Het
Camk2g G A 14: 20,737,375 R274C probably damaging Het
Ccdc61 A T 7: 18,909,989 probably null Het
Ccnjl A T 11: 43,585,338 T263S probably benign Het
Col17a1 G T 19: 47,653,379 P944T possibly damaging Het
Cyp4a32 T C 4: 115,602,363 V98A possibly damaging Het
D430042O09Rik C A 7: 125,752,987 D26E probably damaging Het
Dnah9 A G 11: 66,037,693 V2050A probably damaging Het
F5 A G 1: 164,191,951 N665S probably benign Het
Fbxl6 A T 15: 76,535,854 C520S probably damaging Het
Fscn2 C A 11: 120,362,027 H107N probably damaging Het
Gfm2 C T 13: 97,162,953 T367M probably damaging Het
Gle1 C G 2: 29,936,115 P69A probably benign Het
Gpr156 A T 16: 37,987,519 D176V probably damaging Het
Grip2 A G 6: 91,765,388 S895P possibly damaging Het
Hfm1 C T 5: 106,841,638 G1404D probably benign Het
Ifit1bl1 G A 19: 34,594,170 R296* probably null Het
Ighv1-39 C T 12: 114,914,859 V31M possibly damaging Het
Itgav A G 2: 83,802,036 E956G probably damaging Het
Lsm8 A G 6: 18,853,645 D86G probably damaging Het
Mdh1b T G 1: 63,715,239 H390P possibly damaging Het
Mtrf1l A T 10: 5,817,468 I216N possibly damaging Het
Muc16 G A 9: 18,654,926 T2099I unknown Het
Myh7 T C 14: 54,983,692 R925G probably damaging Het
Myo1h T A 5: 114,351,708 I658N probably damaging Het
Myo5a A T 9: 75,189,913 D81V possibly damaging Het
Nell1 G A 7: 49,975,423 C12Y possibly damaging Het
Obscn T C 11: 59,053,696 Y4724C probably damaging Het
Olfr1055 A G 2: 86,347,548 Y73H probably damaging Het
Pah G A 10: 87,576,187 D315N probably damaging Het
Per2 A G 1: 91,448,722 V143A probably damaging Het
Plcxd1 T C 5: 110,100,299 V38A probably benign Het
Pld1 A G 3: 28,130,747 probably benign Het
Plekhh2 A G 17: 84,575,787 N761S probably benign Het
Polh T C 17: 46,182,738 I318V probably benign Het
Prex1 T C 2: 166,572,960 Q1323R probably null Het
Rb1cc1 T A 1: 6,263,257 S1440T probably benign Het
Rbm19 G T 5: 120,127,040 W382L possibly damaging Het
Rchy1 T C 5: 91,957,942 D49G probably benign Het
Ric1 A G 19: 29,604,085 D1402G probably benign Het
S1pr3 G T 13: 51,419,031 A83S probably damaging Het
S1pr3 C A 13: 51,419,032 A83D probably damaging Het
Selplg G A 5: 113,820,149 P32L probably benign Het
Serpinb9c T C 13: 33,149,995 R355G probably damaging Het
Slx4 G C 16: 3,990,850 Q409E probably benign Het
Sntg1 A C 1: 8,583,284 L243R possibly damaging Het
Specc1l G T 10: 75,248,488 D682Y probably damaging Het
Spen C T 4: 141,471,633 V3228I possibly damaging Het
Strip1 T C 3: 107,628,200 E69G probably damaging Het
Tasp1 C A 2: 139,951,537 V240L probably damaging Het
Tdrd9 T A 12: 112,034,608 F787L probably damaging Het
Vmn1r228 A G 17: 20,776,882 S125P probably damaging Het
Wdhd1 A G 14: 47,251,922 M718T 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
R0086:Cyp2c39 UTSW 19 39510913 missense unknown
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 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
Predicted Primers PCR Primer
(F):5'- ATCTTTGCATAACAACTGCCTG -3'
(R):5'- ACACTTACTTACCAAGGCCG -3'

Sequencing Primer
(F):5'- GAACCCTAAGGCATTACATGATTGG -3'
(R):5'- CTTACTTACCAAGGCCGTTATTAATC -3'
Posted On2018-04-27