Incidental Mutation 'R3933:Ccdc6'
ID 308560
Institutional Source Beutler Lab
Gene Symbol Ccdc6
Ensembl Gene ENSMUSG00000048701
Gene Name coiled-coil domain containing 6
Synonyms 2810012H18Rik
MMRRC Submission 040920-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R3933 (G1)
Quality Score 217
Status Validated
Chromosome 10
Chromosomal Location 69932951-70029030 bp(+) (GRCm39)
Type of Mutation unclassified
DNA Base Change (assembly) TCCGCCGCCGCC to TCCGCCGCC at 70025000 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Gene Model predicted gene model for transcript(s): [ENSMUST00000147545]
AlphaFold D3YZP9
Predicted Effect probably benign
Transcript: ENSMUST00000135607
SMART Domains Protein: ENSMUSP00000116408
Gene: ENSMUSG00000048701

DomainStartEndE-ValueType
Pfam:DUF2046 1 43 1.1e-22 PFAM
low complexity region 57 74 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000147545
SMART Domains Protein: ENSMUSP00000123374
Gene: ENSMUSG00000048701

DomainStartEndE-ValueType
low complexity region 2 16 N/A INTRINSIC
Pfam:DUF2046 25 330 2.2e-153 PFAM
low complexity region 344 361 N/A INTRINSIC
low complexity region 404 413 N/A INTRINSIC
low complexity region 419 469 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000156001
SMART Domains Protein: ENSMUSP00000115678
Gene: ENSMUSG00000048701

DomainStartEndE-ValueType
Pfam:DUF2046 1 55 1.6e-27 PFAM
low complexity region 69 86 N/A INTRINSIC
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.7%
  • 10x: 97.1%
  • 20x: 94.1%
Validation Efficiency 96% (43/45)
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 is ubiquitously expressed and may function as a tumor suppressor. A chromosomal rearrangement resulting in the expression of a fusion gene containing a portion of this gene and the intracellular kinase-encoding domain of the ret proto-oncogene is the cause of thyroid papillary carcinoma.[provided by RefSeq, Sep 2010]
Allele List at MGI
Other mutations in this stock
Total: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 T C 11: 9,304,856 (GRCm39) F3350L probably damaging Het
Acp6 T C 3: 97,073,499 (GRCm39) V146A probably benign Het
Ap3b2 C T 7: 81,123,598 (GRCm39) probably benign Het
Arhgef33 A G 17: 80,680,749 (GRCm39) I630V probably benign Het
Astn2 G A 4: 66,322,192 (GRCm39) R136C unknown Het
Bcl2l14 A G 6: 134,400,771 (GRCm39) D64G probably damaging Het
C1rl T A 6: 124,485,781 (GRCm39) L384* probably null Het
Coch T C 12: 51,650,121 (GRCm39) I370T probably damaging Het
Ercc5 T A 1: 44,207,016 (GRCm39) M643K probably benign Het
Fut8 A C 12: 77,522,033 (GRCm39) K557N probably damaging Het
Hsdl2 T C 4: 59,597,274 (GRCm39) Y88H probably damaging Het
Hspg2 T C 4: 137,242,879 (GRCm39) V670A probably damaging Het
Itga8 A G 2: 12,194,330 (GRCm39) I690T probably benign Het
Lepr T C 4: 101,622,498 (GRCm39) probably benign Het
Matn2 T C 15: 34,345,566 (GRCm39) probably null Het
Mei1 A G 15: 81,967,353 (GRCm39) K310E possibly damaging Het
Mrc2 G A 11: 105,239,257 (GRCm39) probably null Het
Msl3 C T X: 167,454,813 (GRCm39) A87T probably damaging Het
Nalf2 G A X: 98,865,470 (GRCm39) V266M possibly damaging Het
Ogdh T C 11: 6,292,601 (GRCm39) V438A possibly damaging Het
Opa1 A T 16: 29,429,698 (GRCm39) E401D probably damaging Het
Or4f17-ps1 T C 2: 111,358,300 (GRCm39) Y232H probably damaging Het
Or5aq6 T A 2: 86,923,106 (GRCm39) I212F probably benign Het
Parp2 G A 14: 51,056,844 (GRCm39) V323M probably benign Het
Pip5k1a A G 3: 94,979,314 (GRCm39) S161P probably benign Het
Pold3 T C 7: 99,770,608 (GRCm39) E8G probably damaging Het
Pomt1 G A 2: 32,135,631 (GRCm39) V332I probably benign Het
Ppp2ca T A 11: 52,010,089 (GRCm39) N232K probably damaging Het
Prune2 A T 19: 17,101,318 (GRCm39) D2274V probably damaging Het
Pwwp2b G A 7: 138,835,950 (GRCm39) V464I possibly damaging Het
Rgs7bp T C 13: 105,189,506 (GRCm39) M98V probably benign Het
Rubcn A G 16: 32,649,629 (GRCm39) probably null Het
Scai A T 2: 38,965,064 (GRCm39) D593E probably benign Het
Slc24a2 T C 4: 87,094,422 (GRCm39) T366A probably benign Het
Sp100 A G 1: 85,608,830 (GRCm39) I320V probably benign Het
Syngr2 C A 11: 117,704,243 (GRCm39) P206Q probably damaging Het
Tatdn3 A T 1: 190,778,521 (GRCm39) probably null Het
Thsd7a C T 6: 12,555,225 (GRCm39) G220S probably benign Het
Vmn2r10 C A 5: 109,150,088 (GRCm39) A319S possibly damaging Het
Vmn2r11 C T 5: 109,201,260 (GRCm39) A415T probably damaging Het
Vmn2r88 A G 14: 51,651,435 (GRCm39) M258V probably benign Het
Wiz G A 17: 32,576,872 (GRCm39) R561C probably damaging Het
Yju2b G A 8: 84,986,981 (GRCm39) A172V probably benign Het
Zfp422 T C 6: 116,603,420 (GRCm39) K193R probably benign Het
Other mutations in Ccdc6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02034:Ccdc6 APN 10 70,004,978 (GRCm39) missense probably benign 0.35
IGL03035:Ccdc6 APN 10 70,018,006 (GRCm39) missense probably benign 0.32
R0455:Ccdc6 UTSW 10 69,978,401 (GRCm39) splice site probably benign
R1102:Ccdc6 UTSW 10 70,023,636 (GRCm39) missense possibly damaging 0.73
R1609:Ccdc6 UTSW 10 70,002,877 (GRCm39) missense probably damaging 1.00
R1807:Ccdc6 UTSW 10 70,010,989 (GRCm39) missense possibly damaging 0.83
R2513:Ccdc6 UTSW 10 70,023,658 (GRCm39) splice site probably benign
R4684:Ccdc6 UTSW 10 70,025,086 (GRCm39) unclassified probably benign
R8035:Ccdc6 UTSW 10 69,933,331 (GRCm39) missense probably benign 0.00
R9090:Ccdc6 UTSW 10 70,024,993 (GRCm39) missense unknown
R9271:Ccdc6 UTSW 10 70,024,993 (GRCm39) missense unknown
R9433:Ccdc6 UTSW 10 70,004,951 (GRCm39) missense possibly damaging 0.71
Predicted Primers PCR Primer
(F):5'- TCAGGAACCACCGATGACAG -3'
(R):5'- AACGCGTCAGATCCAAGTAC -3'

Sequencing Primer
(F):5'- CCGATGACAGAGAAGGAGCCC -3'
(R):5'- TCAGATCCAAGTACGCCGG -3'
Posted On 2015-04-17