Incidental Mutation 'IGL03035:Ccdc6'
ID408603
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ccdc6
Ensembl Gene ENSMUSG00000048701
Gene Namecoiled-coil domain containing 6
Synonyms
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL03035
Quality Score
Status
Chromosome10
Chromosomal Location70097121-70193200 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 70182176 bp
ZygosityHeterozygous
Amino Acid Change Serine to Threonine at position 334 (S334T)
Ref Sequence ENSEMBL: ENSMUSP00000123374 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000147545]
Predicted Effect unknown
Transcript: ENSMUST00000135607
AA Change: S46T
SMART Domains Protein: ENSMUSP00000116408
Gene: ENSMUSG00000048701
AA Change: S46T

DomainStartEndE-ValueType
Pfam:DUF2046 1 43 1.1e-22 PFAM
low complexity region 57 74 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000145990
Predicted Effect probably benign
Transcript: ENSMUST00000147545
AA Change: S334T

PolyPhen 2 Score 0.316 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000123374
Gene: ENSMUSG00000048701
AA Change: S334T

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 unknown
Transcript: ENSMUST00000156001
AA Change: S58T
SMART Domains Protein: ENSMUSP00000115678
Gene: ENSMUSG00000048701
AA Change: S58T

DomainStartEndE-ValueType
Pfam:DUF2046 1 55 1.6e-27 PFAM
low complexity region 69 86 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 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: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc9 A G 6: 142,627,593 L1004P probably damaging Het
Adgrf5 T C 17: 43,430,627 I385T possibly damaging Het
Alpk3 T C 7: 81,078,604 V494A probably benign Het
Camta2 C A 11: 70,671,509 E1021* probably null Het
Cd84 T C 1: 171,852,034 V93A probably damaging Het
Ceacam20 T C 7: 19,977,908 probably null Het
Crip2 A C 12: 113,144,125 T103P probably benign Het
Cyp4f14 T A 17: 32,914,634 T83S probably benign Het
Dapk1 T A 13: 60,716,773 V127D probably damaging Het
Dnah7c A G 1: 46,524,117 E609G probably benign Het
Dscam T A 16: 96,819,970 I513F possibly damaging Het
Ell2 T A 13: 75,763,648 L351* probably null Het
Emcn G T 3: 137,372,851 probably null Het
Fdft1 A T 14: 63,163,389 C98* probably null Het
Fer1l4 A G 2: 156,022,606 S1663P possibly damaging Het
Flt4 C A 11: 49,645,897 Y1231* probably null Het
Gatb A G 3: 85,601,947 K139E probably damaging Het
Gm13212 C A 4: 145,622,232 Q80K possibly damaging Het
Gtf2a1 C A 12: 91,572,637 probably benign Het
Gtf3c2 A C 5: 31,166,014 V574G possibly damaging Het
Heatr1 T C 13: 12,413,219 probably benign Het
Homer2 T A 7: 81,624,278 T57S possibly damaging Het
Ice2 C A 9: 69,425,688 F825L probably benign Het
Lepr C A 4: 101,764,980 L370I probably damaging Het
Nalcn G A 14: 123,278,218 Q1724* probably null Het
Nufip1 A G 14: 76,115,818 D222G probably damaging Het
Olfr1289 T C 2: 111,483,823 V159A probably benign Het
Prl3b1 A G 13: 27,249,533 probably benign Het
Ptbp3 A T 4: 59,477,218 M393K probably benign Het
Ptgds T C 2: 25,469,610 T22A probably benign Het
Rapgef2 T A 3: 79,094,424 H282L probably damaging Het
Rars2 T C 4: 34,656,865 probably null Het
Rnf213 G A 11: 119,445,626 probably benign Het
Ros1 C A 10: 52,075,984 probably benign Het
Slx4ip A G 2: 137,067,703 D206G possibly damaging Het
Sprr1a T A 3: 92,484,577 D39V probably benign Het
Stab1 A G 14: 31,147,769 V1442A probably benign Het
Tbx3 C A 5: 119,683,096 probably benign Het
Ubl3 A G 5: 148,506,137 *118Q probably null Het
Vmn2r55 G A 7: 12,670,816 S220L probably benign Het
Vps36 A G 8: 22,218,415 K362E probably benign Het
Other mutations in Ccdc6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02034:Ccdc6 APN 10 70169148 missense probably benign 0.35
R0455:Ccdc6 UTSW 10 70142571 splice site probably benign
R1102:Ccdc6 UTSW 10 70187806 missense possibly damaging 0.73
R1609:Ccdc6 UTSW 10 70167047 missense probably damaging 1.00
R1807:Ccdc6 UTSW 10 70175159 missense possibly damaging 0.83
R2513:Ccdc6 UTSW 10 70187828 splice site probably benign
R3933:Ccdc6 UTSW 10 70189170 unclassified probably benign
R4684:Ccdc6 UTSW 10 70189256 unclassified probably benign
R8035:Ccdc6 UTSW 10 70097501 missense probably benign 0.00
Posted On2016-08-02