Incidental Mutation 'R7773:Ccdc63'
ID 598702
Institutional Source Beutler Lab
Gene Symbol Ccdc63
Ensembl Gene ENSMUSG00000043036
Gene Name coiled-coil domain containing 63
Synonyms 4921511C16Rik
MMRRC Submission 045829-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.117) question?
Stock # R7773 (G1)
Quality Score 225.009
Status Validated
Chromosome 5
Chromosomal Location 122246115-122276143 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 122247335 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Lysine at position 503 (N503K)
Ref Sequence ENSEMBL: ENSMUSP00000050582 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000014080] [ENSMUST00000058960] [ENSMUST00000111750] [ENSMUST00000111751] [ENSMUST00000139213] [ENSMUST00000146733] [ENSMUST00000150535] [ENSMUST00000152389] [ENSMUST00000155612]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000014080
SMART Domains Protein: ENSMUSP00000014080
Gene: ENSMUSG00000013936

DomainStartEndE-ValueType
EFh 28 56 2.81e-5 SMART
EFh 98 126 4.53e0 SMART
EFh 134 162 3.97e1 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000058960
AA Change: N503K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000050582
Gene: ENSMUSG00000043036
AA Change: N503K

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: ENSMUST00000111750
SMART Domains Protein: ENSMUSP00000107379
Gene: ENSMUSG00000013936

DomainStartEndE-ValueType
EFh 28 56 2.81e-5 SMART
EFh 98 126 4.53e0 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000111751
SMART Domains Protein: ENSMUSP00000107380
Gene: ENSMUSG00000013936

DomainStartEndE-ValueType
EFh 28 56 2.81e-5 SMART
EFh 98 126 4.53e0 SMART
EFh 134 162 3.97e1 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000126006
SMART Domains Protein: ENSMUSP00000123261
Gene: ENSMUSG00000013936

DomainStartEndE-ValueType
PDB:2W4H|B 2 62 4e-8 PDB
SCOP:d1wdcb_ 10 62 4e-5 SMART
Blast:EFh 37 62 3e-11 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000139213
SMART Domains Protein: ENSMUSP00000114156
Gene: ENSMUSG00000013936

DomainStartEndE-ValueType
Pfam:EF-hand_7 6 54 7e-8 PFAM
Pfam:EF-hand_1 9 37 6.4e-8 PFAM
Pfam:EF-hand_6 9 40 6.2e-8 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000146733
SMART Domains Protein: ENSMUSP00000142592
Gene: ENSMUSG00000013936

DomainStartEndE-ValueType
Pfam:EF-hand_7 6 54 1.2e-6 PFAM
Pfam:EF-hand_1 9 37 1.1e-6 PFAM
Pfam:EF-hand_6 9 40 1.1e-6 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000150535
SMART Domains Protein: ENSMUSP00000120274
Gene: ENSMUSG00000013936

DomainStartEndE-ValueType
Pfam:EF-hand_7 6 54 6.2e-8 PFAM
Pfam:EF-hand_1 9 37 5.8e-8 PFAM
Pfam:EF-hand_6 9 40 5.6e-8 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000152389
Predicted Effect probably benign
Transcript: ENSMUST00000155612
SMART Domains Protein: ENSMUSP00000120105
Gene: ENSMUSG00000013936

DomainStartEndE-ValueType
EFh 9 37 2.81e-5 SMART
EFh 79 107 4.53e0 SMART
Meta Mutation Damage Score 0.1864 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.3%
Validation Efficiency 98% (55/56)
Allele List at MGI
Other mutations in this stock
Total: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700006A11Rik A G 3: 124,206,180 (GRCm39) I336T probably benign Het
4930519P11Rik T C 2: 154,455,107 (GRCm39) Y84C unknown Het
4930568D16Rik C T 2: 35,244,606 (GRCm39) G249S probably damaging Het
AAdacl4fm3 A T 4: 144,430,047 (GRCm39) L314Q probably damaging Het
Adprhl1 C T 8: 13,298,682 (GRCm39) V83I probably damaging Het
Agbl1 T A 7: 76,348,585 (GRCm39) V894E unknown Het
Amigo3 T C 9: 107,931,867 (GRCm39) L430P probably benign Het
Aoc1 A G 6: 48,883,146 (GRCm39) I341V probably benign Het
Bod1l A G 5: 41,990,055 (GRCm39) S223P probably benign Het
Cacnb3 T C 15: 98,537,819 (GRCm39) probably null Het
Ccdc83 T A 7: 89,879,120 (GRCm39) I225F probably damaging Het
Cd200r1 A G 16: 44,610,050 (GRCm39) T90A possibly damaging Het
Cd8a A G 6: 71,350,799 (GRCm39) N88S probably benign Het
Cep170 A G 1: 176,567,642 (GRCm39) V152A Het
Chid1 T C 7: 141,109,518 (GRCm39) M123V probably benign Het
Cnnm4 T C 1: 36,538,603 (GRCm39) V595A probably benign Het
Coro7 A G 16: 4,449,870 (GRCm39) L630P probably damaging Het
Cpvl A G 6: 53,908,890 (GRCm39) probably null Het
Edem3 A T 1: 151,687,347 (GRCm39) K762* probably null Het
Elp6 T A 9: 110,141,627 (GRCm39) probably null Het
Emilin3 A T 2: 160,752,718 (GRCm39) Y77* probably null Het
Fam234b T A 6: 135,220,912 (GRCm39) I641N probably benign Het
Farsa T C 8: 85,590,781 (GRCm39) probably null Het
Foxf2 T C 13: 31,811,182 (GRCm39) S374P probably benign Het
Gm11596 A T 11: 99,683,667 (GRCm39) I151N unknown Het
Gm9817 C T 13: 45,232,427 (GRCm39) Q77* probably null Het
Gon4l A G 3: 88,803,102 (GRCm39) K1238E probably benign Het
H13 A G 2: 152,537,431 (GRCm39) Y292C probably damaging Het
Hip1r A G 5: 124,139,504 (GRCm39) N928S probably benign Het
Iqcf4 T C 9: 106,445,812 (GRCm39) N112D probably benign Het
Jak3 A C 8: 72,131,686 (GRCm39) T125P probably benign Het
Krt7 A C 15: 101,311,913 (GRCm39) K124Q possibly damaging Het
Ldc1 T C 4: 130,114,169 (GRCm39) N83D probably damaging Het
Lrrc66 G A 5: 73,764,664 (GRCm39) S793F probably damaging Het
Mycbp2 C T 14: 103,485,840 (GRCm39) V1074I probably damaging Het
Nckap5 T C 1: 125,954,581 (GRCm39) D657G probably benign Het
Nt5el A G 13: 105,218,793 (GRCm39) I42M probably damaging Het
Or5b113 T A 19: 13,342,598 (GRCm39) V202E probably benign Het
Or8k21 T C 2: 86,145,034 (GRCm39) I199V probably benign Het
Osbpl7 A G 11: 96,941,548 (GRCm39) S24G probably benign Het
Pcm1 G T 8: 41,762,610 (GRCm39) E1385* probably null Het
Poc5 A G 13: 96,547,143 (GRCm39) T469A probably damaging Het
Ppp3ca A G 3: 136,596,222 (GRCm39) T296A probably benign Het
Prl6a1 T C 13: 27,502,125 (GRCm39) I164T probably damaging Het
Psmd6 GCAGAGCGGGCAGGGCATCTCACTGACCCTGTCACCTACCCAGAGCGGGCAGGGCATCTCACTGACCCTGTCACCTACCCAGAGCGGGCAGGGCATCTCACTGACC GCAGAGCGGGCAGGGCATCTCACTGACCCTGTCACCTACCCAGAGCGGGCAGGGCATCTCACTGACC 14: 14,119,882 (GRCm38) probably null Het
Rnf149 A C 1: 39,604,299 (GRCm39) M188R possibly damaging Het
Rpl10l T C 12: 66,331,041 (GRCm39) I31V probably benign Het
Serinc5 T C 13: 92,797,592 (GRCm39) S32P probably damaging Het
Sirt1 T A 10: 63,162,562 (GRCm39) K137M possibly damaging Het
Smc4 A G 3: 68,923,496 (GRCm39) Y251C probably damaging Het
Sod3 A C 5: 52,525,643 (GRCm39) E114A possibly damaging Het
Tgfbr3 A G 5: 107,288,368 (GRCm39) V431A probably benign Het
Tlr4 T C 4: 66,757,836 (GRCm39) S210P probably damaging Het
Trub2 G T 2: 29,676,520 (GRCm39) T70N probably benign Het
Tsga10 A T 1: 37,874,323 (GRCm39) C159S unknown Het
Vmn1r15 A T 6: 57,235,644 (GRCm39) I171F probably benign Het
Vmn2r50 T A 7: 9,771,562 (GRCm39) H713L possibly damaging Het
Zcchc14 T C 8: 122,378,514 (GRCm39) S43G unknown Het
Zfp638 T C 6: 83,956,196 (GRCm39) I1601T 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
R2350:Ccdc63 UTSW 5 122,260,948 (GRCm39) missense probably benign 0.04
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
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'- ACAAGTGGCTATACTGTGGTG -3'
(R):5'- TGATAATGAGGGCTGCCTGG -3'

Sequencing Primer
(F):5'- TTCGTGGCCATGAGGGAAAC -3'
(R):5'- CTGGGCTGGCGGTCTTAAC -3'
Posted On 2019-11-26