Incidental Mutation 'IGL02167:Ccdc117'
ID282765
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: 0.277) question?
Stock #IGL02167
Quality Score
Status
Chromosome11
Chromosomal Location5528887-5542187 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 5531333 bp
ZygosityHeterozygous
Amino Acid Change Glutamic Acid to Glycine at position 266 (E266G)
Ref Sequence ENSEMBL: ENSMUSP00000020776 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020776]
Predicted Effect possibly damaging
Transcript: ENSMUST00000020776
AA Change: E266G

PolyPhen 2 Score 0.847 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000020776
Gene: ENSMUSG00000020482
AA Change: E266G

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: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aass T A 6: 23,122,722 probably benign Het
Cacna1f T C X: 7,616,019 Y581H probably damaging Het
Camsap1 C T 2: 25,934,300 R1416H probably damaging Het
Ccdc9 A T 7: 16,284,359 L8* probably null Het
Cited2 T C 10: 17,724,270 S109P probably benign Het
Cnot4 T C 6: 35,056,224 D286G possibly damaging Het
Col5a1 T C 2: 28,018,556 I52T probably benign Het
Cry2 T C 2: 92,433,821 N68S possibly damaging Het
Cul4a T C 8: 13,122,826 F153S probably damaging Het
Ddr1 T C 17: 35,690,071 S261G possibly damaging Het
Depdc5 G A 5: 32,903,801 R324Q probably damaging Het
Dmgdh A G 13: 93,720,627 probably benign Het
Epha8 A T 4: 136,931,094 M990K probably damaging Het
Gpr137c G T 14: 45,279,955 G383C probably damaging Het
Hydin T A 8: 110,418,423 I802N possibly damaging Het
Ifne A G 4: 88,879,828 Y118H possibly damaging Het
Kansl2 T C 15: 98,533,515 probably benign Het
Lig4 T A 8: 9,971,821 N653I probably benign Het
Nagk A G 6: 83,801,106 D246G probably damaging Het
Nav1 A G 1: 135,470,961 S628P probably damaging Het
Ncoa3 A G 2: 166,070,136 Y1401C probably damaging Het
Ndufa9 A G 6: 126,844,785 probably benign Het
Nynrin G T 14: 55,863,335 R194L probably damaging Het
Olfr1115 G A 2: 87,252,198 C87Y probably benign Het
Olfr17 A T 7: 107,097,661 R65S probably benign Het
Olfr45 T A 7: 140,691,751 V282D probably damaging Het
Orc2 A T 1: 58,483,639 probably benign Het
Oxgr1 T A 14: 120,021,930 R288S probably damaging Het
Prkcg T C 7: 3,322,581 probably null Het
Prox1 T C 1: 190,161,280 N323D probably benign Het
Prrt1 A C 17: 34,631,855 E215A possibly damaging Het
Rab2b T C 14: 52,268,696 D103G probably damaging Het
Sardh G T 2: 27,191,975 N846K probably damaging Het
Slc38a8 T A 8: 119,487,360 T248S probably benign Het
Slc6a18 T C 13: 73,666,472 probably null Het
Smcp T C 3: 92,584,199 T114A unknown Het
Tmem8 T C 17: 26,119,071 S450P probably damaging Het
Trpv1 A G 11: 73,254,797 N754D probably damaging Het
Txnrd1 A T 10: 82,881,911 H243L probably benign Het
Wdfy3 T C 5: 101,961,157 M125V probably damaging Het
Wnk2 T C 13: 49,071,125 probably null Het
Wrn T C 8: 33,317,555 M292V probably damaging Het
Zbtb17 T C 4: 141,461,829 L20P possibly damaging Het
Zfp608 T C 18: 54,988,224 H97R probably damaging Het
Zfp68 T A 5: 138,606,367 M565L probably benign Het
Zfp687 T C 3: 95,010,530 T644A probably benign Het
Zfp777 C T 6: 48,044,526 G54D probably damaging Het
Other mutations in Ccdc117
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01160:Ccdc117 APN 11 5531532 missense probably benign 0.32
IGL01455:Ccdc117 APN 11 5534297 missense possibly damaging 0.93
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
Posted On2015-04-16