Incidental Mutation 'R0503:Ccdc65'
ID 47280
Institutional Source Beutler Lab
Gene Symbol Ccdc65
Ensembl Gene ENSMUSG00000003354
Gene Name coiled-coil domain containing 65
Synonyms 4933417K04Rik
MMRRC Submission 038698-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.717) question?
Stock # R0503 (G1)
Quality Score 225
Status Validated
Chromosome 15
Chromosomal Location 98606088-98621217 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 98607041 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Tyrosine at position 83 (D83Y)
Ref Sequence ENSEMBL: ENSMUSP00000155191 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000003444] [ENSMUST00000229471]
AlphaFold Q8VHI7
Predicted Effect probably damaging
Transcript: ENSMUST00000003444
AA Change: D83Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000003444
Gene: ENSMUSG00000003354
AA Change: D83Y

DomainStartEndE-ValueType
low complexity region 3 15 N/A INTRINSIC
Pfam:NYD-SP28 27 127 9.8e-32 PFAM
low complexity region 129 141 N/A INTRINSIC
coiled coil region 255 282 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000229471
AA Change: D83Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Meta Mutation Damage Score 0.5025 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.0%
  • 20x: 94.7%
Validation Efficiency 98% (57/58)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a sperm tail protein that is highly expressed in adult testis, spermatocytes and spermatids. The protein plays a critical role in the assembly of the nexin-dynein regulatory complex. Mutations in this gene result in primary ciliary dyskinesia. [provided by RefSeq, Nov 2013]
Allele List at MGI
Other mutations in this stock
Total: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9930111J21Rik1 T C 11: 48,838,322 (GRCm39) H755R possibly damaging Het
Atp2c2 A G 8: 120,461,316 (GRCm39) E279G probably null Het
Cd200r2 T A 16: 44,698,325 (GRCm39) M1K probably null Het
Clca4c-ps A T 3: 144,585,583 (GRCm39) noncoding transcript Het
Col6a6 A T 9: 105,644,550 (GRCm39) M1246K probably benign Het
Comp A T 8: 70,828,384 (GRCm39) N130I possibly damaging Het
Crot A G 5: 9,026,075 (GRCm39) V304A possibly damaging Het
Dapk1 T A 13: 60,878,662 (GRCm39) probably null Het
Dspp A T 5: 104,325,122 (GRCm39) D495V unknown Het
Erich2 A T 2: 70,340,043 (GRCm39) R169S probably damaging Het
Erich2 C A 2: 70,371,119 (GRCm39) S426R unknown Het
Gab1 C T 8: 81,526,771 (GRCm39) R109H probably damaging Het
Ggcx GTCTAT GTCTATCTAT 6: 72,406,140 (GRCm39) probably null Het
Gria1 T G 11: 57,080,542 (GRCm39) V175G probably damaging Het
Hmcn1 C T 1: 150,735,003 (GRCm39) V170M probably damaging Het
Irx4 T A 13: 73,414,703 (GRCm39) probably null Het
Katnb1 A G 8: 95,821,802 (GRCm39) T212A probably damaging Het
Kirrel1 A G 3: 87,005,109 (GRCm39) S80P probably benign Het
Lrrc75b T C 10: 75,389,488 (GRCm39) T81A possibly damaging Het
Macf1 A G 4: 123,363,608 (GRCm39) S1775P probably damaging Het
Mmp10 A T 9: 7,507,340 (GRCm39) I387F probably damaging Het
Mphosph10 A T 7: 64,039,641 (GRCm39) C110S probably benign Het
Mpig6b A G 17: 35,283,424 (GRCm39) probably benign Het
Mrps27 G T 13: 99,546,303 (GRCm39) probably benign Het
Muc6 G T 7: 141,218,685 (GRCm39) T1996N possibly damaging Het
Mybpc2 A G 7: 44,161,994 (GRCm39) probably benign Het
Nbea C T 3: 55,550,257 (GRCm39) G2724S possibly damaging Het
Nck2 A G 1: 43,572,728 (GRCm39) M1V probably null Het
Nefl T A 14: 68,321,432 (GRCm39) D7E probably benign Het
Nktr T A 9: 121,579,806 (GRCm39) probably benign Het
Nlrp12 C T 7: 3,298,007 (GRCm39) E55K probably damaging Het
Nsun7 T A 5: 66,440,924 (GRCm39) probably benign Het
Or10d4c A G 9: 39,558,772 (GRCm39) Y250C probably damaging Het
Or4c109 C T 2: 88,818,322 (GRCm39) V75I probably benign Het
Or4k5 T A 14: 50,385,935 (GRCm39) Y132F probably damaging Het
Or51a5 A T 7: 102,771,643 (GRCm39) M112K possibly damaging Het
Or6c2b T C 10: 128,947,671 (GRCm39) T208A probably damaging Het
Or6f2 T C 7: 139,756,354 (GRCm39) V113A possibly damaging Het
Pcdh15 A G 10: 74,046,217 (GRCm39) T165A probably damaging Het
Pikfyve A T 1: 65,259,058 (GRCm39) H410L probably damaging Het
Polr3c A T 3: 96,620,952 (GRCm39) probably null Het
Ptdss2 T A 7: 140,731,710 (GRCm39) probably benign Het
Ptprg A G 14: 12,237,138 (GRCm38) M1386V possibly damaging Het
Ptpru T C 4: 131,520,954 (GRCm39) N784S probably benign Het
Rfx4 T A 10: 84,730,196 (GRCm39) I495K possibly damaging Het
Serpina12 C A 12: 103,997,418 (GRCm39) A368S probably damaging Het
Tmem39b A C 4: 129,580,779 (GRCm39) Y238D possibly damaging Het
Tspan11 T C 6: 127,916,075 (GRCm39) W124R probably benign Het
Ttll10 T C 4: 156,132,005 (GRCm39) probably benign Het
Tyro3 T C 2: 119,633,711 (GRCm39) probably benign Het
Unc79 A G 12: 103,045,127 (GRCm39) M644V probably benign Het
Vmn1r196 G A 13: 22,477,557 (GRCm39) M65I probably benign Het
Vmn2r85 T C 10: 130,258,609 (GRCm39) Y482C probably damaging Het
Zfp940 A G 7: 29,545,445 (GRCm39) probably benign Het
Zfyve9 A T 4: 108,576,961 (GRCm39) L40* probably null Het
Zkscan1 T A 5: 138,091,588 (GRCm39) I107N probably damaging Het
Other mutations in Ccdc65
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01072:Ccdc65 APN 15 98,606,277 (GRCm39) start codon destroyed unknown
IGL01800:Ccdc65 APN 15 98,606,946 (GRCm39) missense probably benign 0.37
IGL02300:Ccdc65 APN 15 98,620,991 (GRCm39) unclassified probably benign
IGL02880:Ccdc65 APN 15 98,606,973 (GRCm39) missense probably damaging 1.00
IGL03393:Ccdc65 APN 15 98,618,568 (GRCm39) missense probably benign 0.39
R0471:Ccdc65 UTSW 15 98,615,348 (GRCm39) missense probably benign 0.08
R0573:Ccdc65 UTSW 15 98,618,930 (GRCm39) missense probably benign 0.08
R0707:Ccdc65 UTSW 15 98,607,095 (GRCm39) missense possibly damaging 0.55
R2173:Ccdc65 UTSW 15 98,618,914 (GRCm39) missense probably benign 0.00
R4880:Ccdc65 UTSW 15 98,620,538 (GRCm39) splice site probably null
R6176:Ccdc65 UTSW 15 98,606,433 (GRCm39) splice site probably null
R7337:Ccdc65 UTSW 15 98,618,977 (GRCm39) missense probably benign
R8524:Ccdc65 UTSW 15 98,606,990 (GRCm39) missense probably benign 0.24
R8968:Ccdc65 UTSW 15 98,616,723 (GRCm39) nonsense probably null
R9124:Ccdc65 UTSW 15 98,618,863 (GRCm39) nonsense probably null
R9561:Ccdc65 UTSW 15 98,620,759 (GRCm39) missense probably benign 0.04
R9568:Ccdc65 UTSW 15 98,620,819 (GRCm39) missense possibly damaging 0.78
Predicted Primers PCR Primer
(F):5'- TTGGCAGTATCAACCGAGCCCC -3'
(R):5'- TAGGAAGGTCTGGAAGCCATCCCC -3'

Sequencing Primer
(F):5'- GTCAGGTGTCCAAATTCAGC -3'
(R):5'- ttttccctttttccttttccttttc -3'
Posted On 2013-06-12