Incidental Mutation 'R8524:Ccdc65'
ID 658731
Institutional Source Beutler Lab
Gene Symbol Ccdc65
Ensembl Gene ENSMUSG00000003354
Gene Name coiled-coil domain containing 65
Synonyms 4933417K04Rik
MMRRC Submission 067949-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.717) question?
Stock # R8524 (G1)
Quality Score 225.009
Status Validated
Chromosome 15
Chromosomal Location 98606088-98621217 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 98606990 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Serine at position 66 (T66S)
Ref Sequence ENSEMBL: ENSMUSP00000155191 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000003444] [ENSMUST00000229471]
AlphaFold Q8VHI7
Predicted Effect probably benign
Transcript: ENSMUST00000003444
AA Change: T66S

PolyPhen 2 Score 0.078 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000003444
Gene: ENSMUSG00000003354
AA Change: T66S

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 benign
Transcript: ENSMUST00000229471
AA Change: T66S

PolyPhen 2 Score 0.239 (Sensitivity: 0.91; Specificity: 0.88)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.2%
Validation Efficiency 100% (41/41)
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: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Cers1 G A 8: 70,783,898 (GRCm39) G282D probably damaging Het
Cfap57 C T 4: 118,472,128 (GRCm39) V84I probably benign Het
Col25a1 C A 3: 130,342,873 (GRCm39) P350H probably damaging Het
Coq5 T C 5: 115,422,612 (GRCm39) I172T probably damaging Het
Dand5 A T 8: 85,549,056 (GRCm39) L85* probably null Het
Dnah8 T A 17: 30,934,472 (GRCm39) W1486R possibly damaging Het
Dpp8 T C 9: 64,950,989 (GRCm39) Y142H probably damaging Het
G530012D18Rik C G 1: 85,504,935 (GRCm39) D113E unknown Het
Gng7 T A 10: 80,787,537 (GRCm39) H42L possibly damaging Het
Gps2 T C 11: 69,805,832 (GRCm39) V93A probably damaging Het
Hspa9 T C 18: 35,087,297 (GRCm39) S3G unknown Het
Impg2 A G 16: 56,038,757 (GRCm39) N132D probably benign Het
Jak2 A T 19: 29,273,105 (GRCm39) N643I probably damaging Het
Kcng2 T C 18: 80,338,896 (GRCm39) D464G probably benign Het
Kdm4b T A 17: 56,706,384 (GRCm39) C833S probably damaging Het
Ly86 G A 13: 37,560,869 (GRCm39) D77N probably damaging Het
Map7 G A 10: 20,142,569 (GRCm39) A330T probably benign Het
Mettl1 T C 10: 126,877,908 (GRCm39) S21P probably damaging Het
Mga A G 2: 119,771,997 (GRCm39) Y1540C probably damaging Het
Mpp4 A G 1: 59,183,840 (GRCm39) L300P probably damaging Het
Mycbp2 A G 14: 103,392,895 (GRCm39) M3222T probably benign Het
Nat8f6 A G 6: 85,785,541 (GRCm39) Y203H probably benign Het
Nod1 C T 6: 54,925,060 (GRCm39) E84K probably damaging Het
Or10v9 A G 19: 11,832,445 (GRCm39) Y291H probably damaging Het
Or2b28 T C 13: 21,531,248 (GRCm39) V50A probably benign Het
Or8k28 T C 2: 86,285,961 (GRCm39) Y218C probably damaging Het
Padi2 A G 4: 140,677,006 (GRCm39) N598S possibly damaging Het
Pclo C T 5: 14,729,521 (GRCm39) probably benign Het
Pdik1l T G 4: 134,013,921 (GRCm39) E12D probably benign Het
Plcg1 G A 2: 160,603,387 (GRCm39) probably null Het
Rasgrf1 A G 9: 89,797,638 (GRCm39) H172R possibly damaging Het
Rnf41 C G 10: 128,271,299 (GRCm39) R70G possibly damaging Het
Rsbn1 A T 3: 103,835,687 (GRCm39) K203* probably null Het
Setbp1 T C 18: 78,901,969 (GRCm39) D566G probably damaging Het
Slc7a14 A C 3: 31,278,282 (GRCm39) V441G possibly damaging Het
Sorl1 T A 9: 41,885,370 (GRCm39) N2077I probably damaging Het
Spryd3 G A 15: 102,026,583 (GRCm39) R363* probably null Het
St6galnac1 G T 11: 116,658,547 (GRCm39) R306S possibly damaging Het
Tmem245 T C 4: 56,906,261 (GRCm39) Q548R probably benign Het
Trim35 C T 14: 66,544,493 (GRCm39) R276C probably damaging Het
Trim55 A T 3: 19,725,113 (GRCm39) D210V probably benign Het
Tsg101 A T 7: 46,542,115 (GRCm39) D279E probably benign 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
R0503:Ccdc65 UTSW 15 98,607,041 (GRCm39) missense probably damaging 1.00
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
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'- TTCATTGGAAACCACAAACAGG -3'
(R):5'- TAGGCCCATTCTACCTAGGAAG -3'

Sequencing Primer
(F):5'- CGAGTGTTGGCTGCCAAG -3'
(R):5'- TGGAACTCACTCTGTAGACCAGG -3'
Posted On 2021-01-18