Incidental Mutation 'IGL01160:Ccdc117'
ID53848
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ccdc117
Ensembl Gene ENSMUSG00000020482
Gene Namecoiled-coil domain containing 117
Synonyms
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.262) question?
Stock #IGL01160
Quality Score
Status
Chromosome11
Chromosomal Location5528887-5542187 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 5531532 bp
ZygosityHeterozygous
Amino Acid Change Serine to Glycine at position 200 (S200G)
Ref Sequence ENSEMBL: ENSMUSP00000020776 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020776]
Predicted Effect probably benign
Transcript: ENSMUST00000020776
AA Change: S200G

PolyPhen 2 Score 0.317 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000020776
Gene: ENSMUSG00000020482
AA Change: S200G

DomainStartEndE-ValueType
low complexity region 22 37 N/A INTRINSIC
Pfam:CCDC117 139 277 1.9e-56 PFAM
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2210016F16Rik A G 13: 58,381,976 V274A probably damaging Het
Atp11a A G 8: 12,844,609 T188A probably damaging Het
Bfsp2 A G 9: 103,480,168 V20A probably benign Het
Btn1a1 G A 13: 23,461,737 T154M possibly damaging Het
Col24a1 G A 3: 145,507,713 G1358S probably damaging Het
Crlf2 T C 5: 109,557,570 T40A possibly damaging Het
Cstf2 T A X: 134,060,729 probably benign Het
Dcdc2a A G 13: 25,119,329 D281G probably benign Het
Dmd T C X: 83,924,961 L1855P probably damaging Het
Dnajc5g T C 5: 31,110,185 V112A probably benign Het
Dnmt1 G A 9: 20,917,319 P828S possibly damaging Het
Dock3 A T 9: 106,906,688 S268R probably damaging Het
Dpep2 C T 8: 105,986,444 V440M possibly damaging Het
F8 A T X: 75,288,061 M741K probably damaging Het
Fermt3 C T 19: 7,003,258 probably null Het
Fosb A G 7: 19,307,114 probably null Het
Gm14085 A C 2: 122,524,796 probably null Het
Gm3238 C A 10: 77,770,883 probably benign Het
Hyal5 T A 6: 24,876,481 S118T possibly damaging Het
Igf2r T C 17: 12,704,775 D1140G possibly damaging Het
Ighmbp2 G T 19: 3,276,750 probably benign Het
Irf3 C A 7: 44,998,796 D28E possibly damaging Het
Ly6i A T 15: 74,980,032 I96N possibly damaging Het
Macrod2 T C 2: 140,825,042 probably benign Het
Olfr1222 A T 2: 89,125,728 M1K probably null Het
Olfr124 A G 17: 37,806,050 R302G probably benign Het
Olfr1309 A G 2: 111,983,933 L47P probably damaging Het
Olfr67 C T 7: 103,787,636 G214R probably damaging Het
Otof A T 5: 30,381,535 M1128K probably benign Het
Parp9 A T 16: 35,947,998 I183F probably damaging Het
Pbsn T C X: 77,842,571 N147S probably benign Het
Pcf11 A G 7: 92,661,686 S365P possibly damaging Het
Pcnx4 T G 12: 72,579,377 V1119G probably damaging Het
Rsf1 C T 7: 97,685,584 T1308M probably damaging Het
Sidt2 A G 9: 45,942,726 L647P probably damaging Het
Slc7a8 A G 14: 54,735,124 V280A probably benign Het
Spg20 T A 3: 55,121,756 F323I probably damaging Het
Supt16 A T 14: 52,183,132 D70E probably benign Het
Tmc4 T C 7: 3,675,518 Y38C possibly damaging Het
Tmco5b G T 2: 113,287,798 probably benign Het
Trav10 G A 14: 53,505,782 probably benign Het
Vmn2r28 A T 7: 5,486,478 M454K probably damaging Het
Vmn2r85 T C 10: 130,418,821 T665A probably benign Het
Yipf7 T C 5: 69,519,317 I160V probably benign Het
Zc3h18 T C 8: 122,408,250 probably benign Het
Zfp429 G A 13: 67,391,013 S91L probably damaging Het
Other mutations in Ccdc117
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01455:Ccdc117 APN 11 5534297 missense possibly damaging 0.93
IGL02167:Ccdc117 APN 11 5531333 missense possibly damaging 0.85
D6062:Ccdc117 UTSW 11 5525039 unclassified probably benign
R0645:Ccdc117 UTSW 11 5534385 splice site probably benign
R2697:Ccdc117 UTSW 11 5534888 missense possibly damaging 0.53
R5029:Ccdc117 UTSW 11 5534897 missense possibly damaging 0.53
R6191:Ccdc117 UTSW 11 5534242 critical splice donor site probably null
R6395:Ccdc117 UTSW 11 5534762 splice site probably null
R6924:Ccdc117 UTSW 11 5534255 missense probably benign 0.05
R7982:Ccdc117 UTSW 11 5531460 missense possibly damaging 0.86
R8428:Ccdc117 UTSW 11 5534350 missense possibly damaging 0.86
Posted On2013-06-28