Incidental Mutation 'R2350:Ccdc63'
ID 246054
Institutional Source Beutler Lab
Gene Symbol Ccdc63
Ensembl Gene ENSMUSG00000043036
Gene Name coiled-coil domain containing 63
Synonyms 4921511C16Rik
MMRRC Submission 040332-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.117) question?
Stock # R2350 (G1)
Quality Score 225
Status Validated
Chromosome 5
Chromosomal Location 122246115-122276143 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 122260948 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Lysine at position 192 (M192K)
Ref Sequence ENSEMBL: ENSMUSP00000050582 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000058960] [ENSMUST00000128101] [ENSMUST00000152389]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000058960
AA Change: M192K

PolyPhen 2 Score 0.038 (Sensitivity: 0.94; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000050582
Gene: ENSMUSG00000043036
AA Change: M192K

DomainStartEndE-ValueType
coiled coil region 140 158 N/A INTRINSIC
coiled coil region 209 285 N/A INTRINSIC
low complexity region 308 318 N/A INTRINSIC
coiled coil region 393 438 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000128101
Predicted Effect probably benign
Transcript: ENSMUST00000152389
Meta Mutation Damage Score 0.0628 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.3%
  • 20x: 95.0%
Validation Efficiency 100% (40/40)
Allele List at MGI
Other mutations in this stock
Total: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A2m A C 6: 121,655,047 (GRCm39) probably benign Het
Adam12 T C 7: 133,521,253 (GRCm39) T312A probably damaging Het
Adamts20 C T 15: 94,181,797 (GRCm39) C1632Y probably damaging Het
Ago2 T C 15: 72,991,310 (GRCm39) M543V probably benign Het
Alpk3 T C 7: 80,744,718 (GRCm39) L1271P probably damaging Het
Arpin T A 7: 79,581,553 (GRCm39) K56* probably null Het
Ccdc138 G T 10: 58,397,715 (GRCm39) probably benign Het
Cldn12 A T 5: 5,557,845 (GRCm39) V194D possibly damaging Het
Cntnap5b T C 1: 100,306,851 (GRCm39) L485P probably damaging Het
Cpne7 A G 8: 123,851,208 (GRCm39) D165G probably damaging Het
Cyp2j6 A T 4: 96,417,645 (GRCm39) M326K probably damaging Het
D630003M21Rik T A 2: 158,042,931 (GRCm39) T870S probably damaging Het
Dennd2c A G 3: 103,039,317 (GRCm39) D155G probably benign Het
Dnah3 A T 7: 119,645,011 (GRCm39) probably null Het
Dqx1 T A 6: 83,036,068 (GRCm39) C133* probably null Het
Fam234b T A 6: 135,208,722 (GRCm39) V545E probably damaging Het
Flcn T C 11: 59,683,485 (GRCm39) H564R probably damaging Het
Gsdmc4 T A 15: 63,765,014 (GRCm39) H348L probably benign Het
Gucy2c G T 6: 136,740,072 (GRCm39) P252T probably damaging Het
Insl6 T A 19: 29,302,645 (GRCm39) E24V possibly damaging Het
Irx1 T A 13: 72,108,167 (GRCm39) T172S probably damaging Het
Mocos C T 18: 24,799,713 (GRCm39) probably benign Het
Myom2 T C 8: 15,158,835 (GRCm39) V837A probably benign Het
Nfatc2ip T C 7: 125,995,170 (GRCm39) N126S probably benign Het
Nfix CAAAAA CAAAA 8: 85,442,876 (GRCm39) probably null Het
Npepl1 T C 2: 173,953,566 (GRCm39) S166P probably benign Het
Nsf C T 11: 103,821,578 (GRCm39) E26K possibly damaging Het
Or7d11 G T 9: 19,966,384 (GRCm39) A125D probably damaging Het
Otop2 T G 11: 115,217,676 (GRCm39) C171G probably damaging Het
Parpbp C A 10: 87,968,950 (GRCm39) probably benign Het
Pcdhb20 T A 18: 37,637,563 (GRCm39) S30T probably benign Het
Phkg1 A T 5: 129,893,373 (GRCm39) V359E probably damaging Het
Ppp2cb A G 8: 34,101,855 (GRCm39) D131G probably null Het
Scn9a A G 2: 66,335,312 (GRCm39) Y1226H probably damaging Het
Unc5b A G 10: 60,613,979 (GRCm39) F290S probably benign Het
Vmn1r71 A G 7: 10,481,846 (GRCm39) F215L probably benign Het
Vmn2r101 T C 17: 19,810,045 (GRCm39) V277A probably benign Het
Vmn2r6 T C 3: 64,463,773 (GRCm39) S354G probably benign Het
Zfp292 A T 4: 34,811,281 (GRCm39) S588T probably damaging Het
Other mutations in Ccdc63
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00919:Ccdc63 APN 5 122,262,982 (GRCm39) splice site probably benign
IGL01660:Ccdc63 APN 5 122,249,027 (GRCm39) missense possibly damaging 0.81
IGL01773:Ccdc63 APN 5 122,251,208 (GRCm39) missense possibly damaging 0.93
IGL02341:Ccdc63 APN 5 122,251,261 (GRCm39) missense probably benign 0.00
IGL03030:Ccdc63 APN 5 122,260,876 (GRCm39) missense probably benign 0.00
IGL02991:Ccdc63 UTSW 5 122,246,275 (GRCm39) missense probably benign 0.10
R0267:Ccdc63 UTSW 5 122,255,107 (GRCm39) splice site probably benign
R0961:Ccdc63 UTSW 5 122,249,009 (GRCm39) missense possibly damaging 0.75
R1333:Ccdc63 UTSW 5 122,246,224 (GRCm39) missense probably benign 0.04
R1802:Ccdc63 UTSW 5 122,267,940 (GRCm39) missense probably damaging 1.00
R1999:Ccdc63 UTSW 5 122,265,628 (GRCm39) missense possibly damaging 0.72
R2048:Ccdc63 UTSW 5 122,268,350 (GRCm39) critical splice donor site probably null
R2150:Ccdc63 UTSW 5 122,265,628 (GRCm39) missense possibly damaging 0.72
R4049:Ccdc63 UTSW 5 122,260,813 (GRCm39) missense probably damaging 0.99
R5072:Ccdc63 UTSW 5 122,259,118 (GRCm39) missense probably benign 0.28
R5847:Ccdc63 UTSW 5 122,254,908 (GRCm39) missense possibly damaging 0.78
R6031:Ccdc63 UTSW 5 122,267,799 (GRCm39) missense possibly damaging 0.74
R6031:Ccdc63 UTSW 5 122,267,799 (GRCm39) missense possibly damaging 0.74
R6249:Ccdc63 UTSW 5 122,263,062 (GRCm39) missense probably benign 0.17
R6782:Ccdc63 UTSW 5 122,249,077 (GRCm39) nonsense probably null
R7073:Ccdc63 UTSW 5 122,249,073 (GRCm39) missense probably benign 0.00
R7250:Ccdc63 UTSW 5 122,260,906 (GRCm39) missense probably damaging 1.00
R7448:Ccdc63 UTSW 5 122,246,245 (GRCm39) missense probably benign 0.00
R7584:Ccdc63 UTSW 5 122,251,267 (GRCm39) missense possibly damaging 0.73
R7773:Ccdc63 UTSW 5 122,247,335 (GRCm39) missense probably damaging 1.00
R7856:Ccdc63 UTSW 5 122,268,006 (GRCm39) missense probably benign 0.00
R8114:Ccdc63 UTSW 5 122,251,244 (GRCm39) missense possibly damaging 0.87
R8933:Ccdc63 UTSW 5 122,251,265 (GRCm39) missense probably damaging 1.00
R9036:Ccdc63 UTSW 5 122,247,346 (GRCm39) missense probably benign 0.08
R9136:Ccdc63 UTSW 5 122,259,146 (GRCm39) missense probably damaging 1.00
X0028:Ccdc63 UTSW 5 122,247,238 (GRCm39) missense possibly damaging 0.50
Predicted Primers PCR Primer
(F):5'- TGCTGCTATGACTTATGGCC -3'
(R):5'- AGGAGACACATCATGACAGC -3'

Sequencing Primer
(F):5'- TATGACTTATGGCCCAAGCAGTC -3'
(R):5'- ATGACAGCAGATCCGCCCTG -3'
Posted On 2014-10-30