Incidental Mutation 'F6893:Ccdc15'
ID195
Institutional Source Beutler Lab
Gene Symbol Ccdc15
Ensembl Gene ENSMUSG00000034303
Gene Namecoiled-coil domain containing 15
SynonymsA630039F14Rik
Accession Numbers

Genbank: NM_001081429; MGI: 2444488

Is this an essential gene? Probably non essential (E-score: 0.221) question?
Stock #F6893 (G3) of strain busy
Quality Score
Status Validated
Chromosome9
Chromosomal Location37275835-37348432 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 37315640 bp
ZygosityHomozygous
Amino Acid Change Threonine to Isoleucine at position 346 (T346I)
Ref Sequence ENSEMBL: ENSMUSP00000036784 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000037275] [ENSMUST00000213633] [ENSMUST00000215116]
Predicted Effect probably damaging
Transcript: ENSMUST00000037275
AA Change: T346I

PolyPhen 2 Score 0.969 (Sensitivity: 0.77; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000036784
Gene: ENSMUSG00000034303
AA Change: T346I

DomainStartEndE-ValueType
low complexity region 80 92 N/A INTRINSIC
low complexity region 95 109 N/A INTRINSIC
coiled coil region 173 202 N/A INTRINSIC
coiled coil region 652 686 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000213633
AA Change: T333I

PolyPhen 2 Score 0.933 (Sensitivity: 0.80; Specificity: 0.94)
Predicted Effect probably benign
Transcript: ENSMUST00000215116
Predicted Effect noncoding transcript
Transcript: ENSMUST00000216060
Predicted Effect noncoding transcript
Transcript: ENSMUST00000217440
Meta Mutation Damage Score 0.03 question?
Coding Region Coverage
  • 1x: 88.7%
  • 3x: 74.0%
Validation Efficiency 88% (165/188)
Allele List at MGI

All alleles(2) : Gene trapped(2)

Other mutations in this stock
Total: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca14 G A 7: 120,325,038 V1638M probably damaging Het
Agrn C T 4: 156,174,179 R972Q probably benign Het
Anxa3 T C 5: 96,824,994 probably benign Het
Bpifa6 G T 2: 153,987,158 D202Y probably damaging Het
Celsr3 G A 9: 108,835,067 R1731H probably benign Het
Ces4a A G 8: 105,147,227 R443G possibly damaging Het
Chd2 T C 7: 73,507,872 Q175R possibly damaging Het
Dpyd T A 3: 118,804,134 probably null Het
Dscam G T 16: 97,056,460 H117N possibly damaging Het
F13a1 A G 13: 36,972,025 Y205H probably damaging Het
Fat3 A C 9: 16,006,789 L1446R probably damaging Homo
Golga4 T C 9: 118,553,457 L515S probably damaging Het
Hoxb1 A T 11: 96,365,902 T26S probably benign Het
Igsf10 T G 3: 59,331,060 T567P probably damaging Het
Lamb2 T C 9: 108,482,556 V365A probably benign Het
Mepe A G 5: 104,337,376 I127M possibly damaging Het
Mpi A T 9: 57,546,549 M230K probably benign Homo
Myh4 A G 11: 67,255,457 D1447G probably null Homo
Olfr161 A G 16: 3,593,163 I256V possibly damaging Het
Olfr350 A G 2: 36,850,807 T254A probably benign Het
Panx2 T C 15: 89,068,010 Y227H probably damaging Homo
Pdzd7 A G 19: 45,036,734 W441R probably damaging Het
Poldip2 A G 11: 78,519,194 I267M probably damaging Homo
Pros1 T A 16: 62,924,639 V539E probably damaging Het
Sacs T C 14: 61,212,976 M4157T probably benign Het
Slc45a3 A G 1: 131,981,337 E424G probably benign Homo
Slc9a1 A G 4: 133,422,146 E761G probably benign Homo
Stab2 G A 10: 86,855,171 P2178L probably damaging Het
Syt4 C T 18: 31,444,221 V27I possibly damaging Homo
Thumpd1 T A 7: 119,720,576 K56* probably null Het
Tpr A G 1: 150,393,562 K19E possibly damaging Homo
Ttll10 A G 4: 156,048,318 I74T probably benign Het
Txnrd1 C T 10: 82,866,989 Q95* probably null Homo
Zc3h7b A G 15: 81,778,671 E421G possibly damaging Homo
Zc3hc1 G T 6: 30,387,526 D51E probably benign Homo
Other mutations in Ccdc15
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00503:Ccdc15 APN 9 37320473 missense probably damaging 1.00
IGL00823:Ccdc15 APN 9 37320413 missense probably benign 0.01
IGL00979:Ccdc15 APN 9 37316490 missense probably benign 0.44
IGL01380:Ccdc15 APN 9 37276557 utr 3 prime probably benign
IGL01832:Ccdc15 APN 9 37311344 missense probably damaging 0.97
IGL01845:Ccdc15 APN 9 37315236 nonsense probably null
IGL02375:Ccdc15 APN 9 37304332 missense probably damaging 0.99
FR4304:Ccdc15 UTSW 9 37315157 frame shift probably null
FR4449:Ccdc15 UTSW 9 37315158 frame shift probably null
R1743:Ccdc15 UTSW 9 37277477 nonsense probably null
R1848:Ccdc15 UTSW 9 37342570 missense probably benign 0.00
R1968:Ccdc15 UTSW 9 37347795 missense probably benign 0.05
R2006:Ccdc15 UTSW 9 37315472 missense possibly damaging 0.91
R2372:Ccdc15 UTSW 9 37315505 missense possibly damaging 0.64
R2932:Ccdc15 UTSW 9 37315658 missense probably benign 0.00
R3962:Ccdc15 UTSW 9 37320486 missense probably damaging 1.00
R5585:Ccdc15 UTSW 9 37277403 missense probably benign 0.00
R5919:Ccdc15 UTSW 9 37320396 critical splice donor site probably null
R6000:Ccdc15 UTSW 9 37315764 missense probably benign 0.00
R6198:Ccdc15 UTSW 9 37314285 critical splice donor site probably null
R6476:Ccdc15 UTSW 9 37342419 missense probably benign 0.04
Nature of Mutation
DNA sequencing using the SOLiD technique identified a C to T transition at position 1363 of the Ccdc15 transcript in exon 7 of 16 total exons.  The mutated nucleotide causes a threonine to isoleucine substitution at amino acid 346 of the encoded protein. The mutation has been confirmed by DNA sequencing using the Sanger method (Figure 1).
 
Protein Function and Prediction
The Ccdc15 gene encodes an 823 amino acid protein that contains coiled coil domains. Four protein isoforms are produced by alternative splicing (Uniprot Q8C9M2). The function of this protein is unknown.
 
The T346I change is predicted to be possibly damaging by the PolyPhen program.
Posted On2010-04-30