Incidental Mutation 'R3843:Ccdc8'
ID 277245
Institutional Source Beutler Lab
Gene Symbol Ccdc8
Ensembl Gene ENSMUSG00000041117
Gene Name coiled-coil domain containing 8
Synonyms ENSMUSG00000041117
MMRRC Submission 040783-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R3843 (G1)
Quality Score 225
Status Validated
Chromosome 7
Chromosomal Location 16727827-16731440 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 16729039 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 176 (V176A)
Ref Sequence ENSEMBL: ENSMUSP00000092399 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000094805]
AlphaFold D3YZV8
Predicted Effect probably damaging
Transcript: ENSMUST00000094805
AA Change: V176A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000092399
Gene: ENSMUSG00000041117
AA Change: V176A

DomainStartEndE-ValueType
Pfam:PNMA 1 98 1.3e-19 PFAM
low complexity region 166 171 N/A INTRINSIC
internal_repeat_1 207 275 5.53e-5 PROSPERO
low complexity region 297 332 N/A INTRINSIC
low complexity region 335 420 N/A INTRINSIC
low complexity region 430 452 N/A INTRINSIC
low complexity region 458 468 N/A INTRINSIC
low complexity region 478 540 N/A INTRINSIC
internal_repeat_1 566 640 5.53e-5 PROSPERO
low complexity region 646 658 N/A INTRINSIC
Meta Mutation Damage Score 0.0852 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.7%
  • 10x: 97.6%
  • 20x: 96.0%
Validation Efficiency 100% (35/35)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a coiled-coil domain-containing protein. The encoded protein functions as a cofactor required for p53-mediated apoptosis following DNA damage, and may also play a role in growth through interactions with the cytoskeletal adaptor protein obscurin-like 1. Mutations in this gene are a cause of 3M syndrome-3 (3M3). [provided by RefSeq, Dec 2011]
Allele List at MGI
Other mutations in this stock
Total: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aass A T 6: 23,092,495 (GRCm39) Y168* probably null Het
Amt C T 9: 108,174,420 (GRCm39) R62C possibly damaging Het
Arid2 C T 15: 96,249,721 (GRCm39) T145I possibly damaging Het
Cdhr1 G T 14: 36,806,884 (GRCm39) F440L probably benign Het
Ckap2 A T 8: 22,665,774 (GRCm39) N424K probably damaging Het
Col6a1 C T 10: 76,547,175 (GRCm39) R730H unknown Het
Dennd1b C A 1: 138,981,092 (GRCm39) P102Q probably damaging Het
E2f1 A G 2: 154,402,748 (GRCm39) S340P probably benign Het
Eef1akmt2 C T 7: 132,433,305 (GRCm39) V134I probably damaging Het
Elp3 A T 14: 65,802,932 (GRCm39) probably null Het
Grap T G 11: 61,551,151 (GRCm39) probably null Het
Heatr1 T C 13: 12,450,002 (GRCm39) Y1999H probably benign Het
Hectd4 G T 5: 121,397,936 (GRCm39) W288L possibly damaging Het
Hnf4g G A 3: 3,716,362 (GRCm39) C262Y probably benign Het
Hrh4 A G 18: 13,155,343 (GRCm39) Y294C possibly damaging Het
Igkv5-39 C A 6: 69,877,526 (GRCm39) G77W probably damaging Het
Kdm2b A T 5: 123,072,856 (GRCm39) Y341N probably damaging Het
Kif26b T C 1: 178,755,742 (GRCm39) L1952P probably damaging Het
Lgr4 C T 2: 109,827,118 (GRCm39) probably benign Het
Nlrc3 G A 16: 3,782,828 (GRCm39) R194W probably benign Het
Nup214 T C 2: 31,941,112 (GRCm39) F547L probably damaging Het
Or5m3 A G 2: 85,838,548 (GRCm39) I143V probably benign Het
Pdp1 T C 4: 11,961,961 (GRCm39) K117E probably benign Het
Phtf2 G A 5: 20,979,020 (GRCm39) A31V probably damaging Het
Pip4p2 T A 4: 14,886,553 (GRCm39) Y42* probably null Het
Pkhd1 A T 1: 20,628,947 (GRCm39) C667S probably benign Het
Pnp2 T A 14: 51,200,878 (GRCm39) L121Q probably null Het
Ppfia1 C T 7: 144,058,707 (GRCm39) R698Q probably benign Het
Sidt1 A T 16: 44,104,587 (GRCm39) F275I probably benign Het
Slc50a1 A T 3: 89,177,207 (GRCm39) I70N probably damaging Het
Sytl2 C G 7: 90,009,367 (GRCm39) T123R possibly damaging Het
Tlk1 T A 2: 70,579,671 (GRCm39) T214S probably benign Het
Tmco3 A G 8: 13,346,114 (GRCm39) probably benign Het
Trim71 T C 9: 114,344,914 (GRCm39) T335A probably benign Het
Zbtb47 T A 9: 121,592,499 (GRCm39) V273E possibly damaging Het
Other mutations in Ccdc8
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00333:Ccdc8 APN 7 16,729,967 (GRCm39) missense unknown
R0255:Ccdc8 UTSW 7 16,729,582 (GRCm39) missense unknown
R0504:Ccdc8 UTSW 7 16,729,939 (GRCm39) missense unknown
R5054:Ccdc8 UTSW 7 16,728,970 (GRCm39) missense probably damaging 1.00
R6020:Ccdc8 UTSW 7 16,730,506 (GRCm39) missense probably damaging 0.99
R6045:Ccdc8 UTSW 7 16,729,956 (GRCm39) missense unknown
R6244:Ccdc8 UTSW 7 16,730,176 (GRCm39) missense probably benign 0.04
R6753:Ccdc8 UTSW 7 16,730,562 (GRCm39) nonsense probably null
R7299:Ccdc8 UTSW 7 16,729,956 (GRCm39) missense unknown
R7567:Ccdc8 UTSW 7 16,728,687 (GRCm39) missense probably damaging 1.00
R7623:Ccdc8 UTSW 7 16,730,537 (GRCm39) missense possibly damaging 0.70
R7745:Ccdc8 UTSW 7 16,729,614 (GRCm39) missense unknown
R8310:Ccdc8 UTSW 7 16,729,326 (GRCm39) missense probably damaging 1.00
R8707:Ccdc8 UTSW 7 16,729,975 (GRCm39) missense unknown
R8840:Ccdc8 UTSW 7 16,728,642 (GRCm39) missense probably damaging 1.00
R9099:Ccdc8 UTSW 7 16,728,800 (GRCm39) nonsense probably null
R9630:Ccdc8 UTSW 7 16,728,733 (GRCm39) missense possibly damaging 0.91
R9696:Ccdc8 UTSW 7 16,730,087 (GRCm39) missense unknown
Predicted Primers PCR Primer
(F):5'- GTCAAAGGCAACAGGAGCTC -3'
(R):5'- TGGAGCTATCATCGTCCGAG -3'

Sequencing Primer
(F):5'- ACTTGGGCAGCAAATTCC -3'
(R):5'- ATCATCGTCCGAGCTGGCTTG -3'
Posted On 2015-04-06