Incidental Mutation 'IGL00333:Ccdc8'
ID 5324
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ccdc8
Ensembl Gene ENSMUSG00000041117
Gene Name coiled-coil domain containing 8
Synonyms ENSMUSG00000041117
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL00333
Quality Score
Chromosome 7
Chromosomal Location 16727827-16731440 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 16729967 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 485 (D485E)
Ref Sequence ENSEMBL: ENSMUSP00000092399 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000094805]
AlphaFold D3YZV8
Predicted Effect unknown
Transcript: ENSMUST00000094805
AA Change: D485E
SMART Domains Protein: ENSMUSP00000092399
Gene: ENSMUSG00000041117
AA Change: D485E

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
Coding Region Coverage
Validation Efficiency
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: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Atosa T C 9: 74,933,072 (GRCm39) I1006T probably benign Het
Atp8b3 C T 10: 80,366,821 (GRCm39) C259Y probably damaging Het
Bag6 T G 17: 35,363,627 (GRCm39) D770E probably damaging Het
Cyp2c54 A C 19: 40,060,522 (GRCm39) V153G probably damaging Het
Haus8 A G 8: 71,708,289 (GRCm39) probably null Het
Hgf A T 5: 16,816,880 (GRCm39) T499S possibly damaging Het
Ifitm1 T A 7: 140,549,537 (GRCm39) *107R probably null Het
Kcnq4 G A 4: 120,555,213 (GRCm39) Q657* probably null Het
Klk1b27 T A 7: 43,705,567 (GRCm39) probably null Het
Lpin2 C A 17: 71,550,967 (GRCm39) T709K probably damaging Het
Lrig3 T C 10: 125,849,017 (GRCm39) L945P probably benign Het
Lrrn4 C T 2: 132,712,737 (GRCm39) C362Y probably damaging Het
Map3k20 T C 2: 72,202,320 (GRCm39) S184P probably damaging Het
Nr2f1 A T 13: 78,337,952 (GRCm39) V231E probably damaging Het
Or12d13 A T 17: 37,647,474 (GRCm39) Y216* probably null Het
Orc1 T C 4: 108,452,522 (GRCm39) probably benign Het
Osr1 A C 12: 9,629,432 (GRCm39) I102L probably benign Het
Pcbd1 A T 10: 60,927,949 (GRCm39) Q37L probably benign Het
Pclo C T 5: 14,571,691 (GRCm39) Q359* probably null Het
Rpgrip1 A T 14: 52,387,895 (GRCm39) probably null Het
Sox4 C A 13: 29,136,956 (GRCm39) G17W probably damaging Het
Speer4a2 A G 5: 26,291,491 (GRCm39) M105T possibly damaging Het
Sspo A G 6: 48,447,387 (GRCm39) T2184A probably benign Het
Synpo2 C T 3: 122,906,859 (GRCm39) G819D probably damaging Het
Taar8b A G 10: 23,967,654 (GRCm39) V180A possibly damaging Het
Tbc1d8 T C 1: 39,433,210 (GRCm39) D324G probably damaging Het
Tcaf2 A T 6: 42,606,970 (GRCm39) L328* probably null Het
Tmem253 T C 14: 52,255,418 (GRCm39) L76P probably damaging Het
Tsc1 G A 2: 28,551,623 (GRCm39) V46I probably damaging Het
Ttn A T 2: 76,779,425 (GRCm39) F1152I probably benign Het
Txnrd2 T C 16: 18,257,101 (GRCm39) V139A probably damaging Het
Ublcp1 T C 11: 44,351,597 (GRCm39) D212G probably damaging Het
Utrn A T 10: 12,547,574 (GRCm39) L1622Q probably damaging Het
Vmn2r103 A G 17: 20,013,364 (GRCm39) T162A probably damaging Het
Other mutations in Ccdc8
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0255:Ccdc8 UTSW 7 16,729,582 (GRCm39) missense unknown
R0504:Ccdc8 UTSW 7 16,729,939 (GRCm39) missense unknown
R3843:Ccdc8 UTSW 7 16,729,039 (GRCm39) missense probably damaging 1.00
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
Posted On 2012-04-20