Incidental Mutation 'R0573:Ccdc65'
ID46553
Institutional Source Beutler Lab
Gene Symbol Ccdc65
Ensembl Gene ENSMUSG00000003354
Gene Namecoiled-coil domain containing 65
Synonyms
MMRRC Submission 038763-MU
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.315) question?
Stock #R0573 (G1)
Quality Score225
Status Not validated
Chromosome15
Chromosomal Location98708207-98723336 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 98721049 bp
ZygosityHeterozygous
Amino Acid Change Valine to Alanine at position 303 (V303A)
Ref Sequence ENSEMBL: ENSMUSP00000003444 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000003444] [ENSMUST00000003445]
Predicted Effect probably benign
Transcript: ENSMUST00000003444
AA Change: V303A

PolyPhen 2 Score 0.075 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000003444
Gene: ENSMUSG00000003354
AA Change: V303A

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: ENSMUST00000003445
SMART Domains Protein: ENSMUSP00000003445
Gene: ENSMUSG00000003355

DomainStartEndE-ValueType
signal peptide 1 27 N/A INTRINSIC
Pfam:FKBP_C 50 141 2.5e-26 PFAM
transmembrane domain 155 177 N/A INTRINSIC
low complexity region 178 201 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000229562
Predicted Effect noncoding transcript
Transcript: ENSMUST00000230743
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 96.9%
  • 20x: 94.5%
Validation Efficiency 97% (60/62)
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: 62 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam6b A T 12: 113,491,658 K698N possibly damaging Het
Adcy8 A T 15: 64,822,195 V411D probably damaging Het
Arfgef3 T A 10: 18,599,288 E1550V probably damaging Het
Asb3 T A 11: 31,061,406 I306K probably damaging Het
Asic4 T A 1: 75,469,102 probably benign Het
B020004J07Rik A C 4: 101,835,414 V463G probably damaging Het
Basp1 G T 15: 25,364,862 D16E unknown Het
Cbll1 A T 12: 31,490,540 I123N probably damaging Het
Ccdc141 A T 2: 77,039,493 H889Q probably benign Het
Ceacam20 T A 7: 19,986,668 M60K probably damaging Het
Chd9 T A 8: 90,998,595 V711D probably damaging Het
Clcn1 T A 6: 42,313,045 probably null Het
Col16a1 A T 4: 130,068,475 probably benign Het
Col4a3 C A 1: 82,716,363 P1568Q possibly damaging Het
Colec12 C A 18: 9,858,650 P478T probably damaging Het
Dchs1 T C 7: 105,758,778 H1949R probably damaging Het
Dgka A G 10: 128,737,007 probably null Het
Dlgap4 A G 2: 156,746,191 I669V probably benign Het
Dsg1c T A 18: 20,279,241 D543E probably benign Het
Egflam A T 15: 7,242,425 C677* probably null Het
Eml5 A C 12: 98,824,772 probably null Het
Fbn1 G A 2: 125,389,249 R466C probably damaging Het
Fnbp1 C A 2: 31,058,978 D198Y probably damaging Het
Gfra3 T A 18: 34,691,615 M272L probably benign Het
Gm5422 T A 10: 31,250,160 noncoding transcript Het
Gpr21 T A 2: 37,517,544 I34N probably damaging Het
Hspb2 G T 9: 50,751,364 T155K probably benign Het
Il21r A G 7: 125,625,285 T24A probably benign Het
Mmadhc T A 2: 50,292,835 H43L possibly damaging Het
Morn1 T A 4: 155,111,016 D278E possibly damaging Het
Myoc T C 1: 162,648,674 Y316H probably damaging Het
Nags A G 11: 102,146,979 D266G probably damaging Het
Nlrp4b A G 7: 10,714,215 N115S probably benign Het
Nlrp5 T A 7: 23,417,631 I260N probably damaging Het
Obscn G A 11: 59,036,079 R6190C probably damaging Het
Olfr1105 A G 2: 87,033,468 F251S probably damaging Het
Olfr1449 T C 19: 12,935,260 V174A possibly damaging Het
Orc4 C T 2: 48,917,273 M215I probably benign Het
Osbpl6 A T 2: 76,590,391 H770L probably damaging Het
Otogl A C 10: 107,780,988 N1809K probably benign Het
Pde3a G T 6: 141,492,231 V1009L probably damaging Het
Pign T C 1: 105,653,177 Y159C probably damaging Het
Pik3cg C A 12: 32,197,197 M842I probably damaging Het
Pnliprp1 C T 19: 58,734,882 T235I possibly damaging Het
Prpf8 A G 11: 75,490,654 N239D probably damaging Het
Psd2 T A 18: 35,980,493 probably benign Het
Ptprt T C 2: 161,551,748 D1251G probably damaging Het
Pwp2 G A 10: 78,182,686 S88L probably benign Het
Rassf4 C T 6: 116,647,555 probably benign Het
Rexo1 A G 10: 80,544,850 S884P probably damaging Het
Rgs20 C A 1: 5,020,814 R131L possibly damaging Het
Setd4 A G 16: 93,589,946 V288A probably benign Het
Stx3 G T 19: 11,785,746 T160K probably damaging Het
Tas2r102 T A 6: 132,762,673 S181R probably damaging Het
Tenm3 T C 8: 48,674,399 probably benign Het
Tmem33 T C 5: 67,264,260 probably benign Het
Trim33 A G 3: 103,351,990 probably benign Het
Trip11 A G 12: 101,886,860 I491T probably benign Het
Trp53bp1 A G 2: 121,228,172 probably benign Het
Tuba4a T C 1: 75,216,373 D199G probably benign Het
Zcchc4 A G 5: 52,795,979 Y110C probably damaging Het
Zp2 C T 7: 120,135,470 probably benign Het
Other mutations in Ccdc65
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01072:Ccdc65 APN 15 98708396 start codon destroyed unknown
IGL01800:Ccdc65 APN 15 98709065 missense probably benign 0.37
IGL02300:Ccdc65 APN 15 98723110 unclassified probably benign
IGL02880:Ccdc65 APN 15 98709092 missense probably damaging 1.00
IGL03393:Ccdc65 APN 15 98720687 missense probably benign 0.39
R0471:Ccdc65 UTSW 15 98717467 missense probably benign 0.08
R0503:Ccdc65 UTSW 15 98709160 missense probably damaging 1.00
R0707:Ccdc65 UTSW 15 98709214 missense possibly damaging 0.55
R2173:Ccdc65 UTSW 15 98721033 missense probably benign 0.00
R4880:Ccdc65 UTSW 15 98722657 unclassified probably null
R6176:Ccdc65 UTSW 15 98708552 intron probably null
R7337:Ccdc65 UTSW 15 98721096 missense probably benign
Predicted Primers PCR Primer
(F):5'- ACCGGAAGATCGCCTTTGAGTACC -3'
(R):5'- AGGTTTGCCTCCAGCCAAGTTTC -3'

Sequencing Primer
(F):5'- CTTTGAGTACCTGAAGGTGAAGG -3'
(R):5'- AGCCAAGTTTCTCCGTTTTG -3'
Posted On2013-06-11