Incidental Mutation 'IGL01800:Ccdc65'
ID 155482
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ccdc65
Ensembl Gene ENSMUSG00000003354
Gene Name coiled-coil domain containing 65
Synonyms 4933417K04Rik
Accession Numbers
Essential gene? Possibly essential (E-score: 0.717) question?
Stock # IGL01800
Quality Score
Status
Chromosome 15
Chromosomal Location 98606088-98621217 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 98606946 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Valine at position 51 (A51V)
Ref Sequence ENSEMBL: ENSMUSP00000003444 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000003444] [ENSMUST00000229471]
AlphaFold Q8VHI7
Predicted Effect probably benign
Transcript: ENSMUST00000003444
AA Change: A51V

PolyPhen 2 Score 0.373 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000003444
Gene: ENSMUSG00000003354
AA Change: A51V

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: A51V

PolyPhen 2 Score 0.372 (Sensitivity: 0.90; Specificity: 0.89)
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 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: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc2 A G 19: 43,772,734 (GRCm39) Y48C possibly damaging Het
Acsm3 T C 7: 119,373,866 (GRCm39) S251P possibly damaging Het
Ano5 G A 7: 51,222,823 (GRCm39) probably null Het
Cspg5 A G 9: 110,080,218 (GRCm39) probably benign Het
Dhx30 A G 9: 109,914,581 (GRCm39) V935A possibly damaging Het
Disp3 T A 4: 148,334,258 (GRCm39) K1012* probably null Het
Dock2 T C 11: 34,647,100 (GRCm39) N18S probably damaging Het
Dst A T 1: 34,301,173 (GRCm39) I1180F probably damaging Het
Elp2 A G 18: 24,750,548 (GRCm39) Y295C probably benign Het
Eml2 A G 7: 18,935,122 (GRCm39) probably benign Het
Fat4 A G 3: 39,035,878 (GRCm39) T3177A probably damaging Het
Flrt2 A T 12: 95,746,462 (GRCm39) I267F probably damaging Het
Gm5611 T G 9: 16,941,767 (GRCm39) noncoding transcript Het
Gstcd A G 3: 132,790,335 (GRCm39) probably null Het
Gucy1b2 T C 14: 62,649,104 (GRCm39) M476V probably benign Het
Jak2 A G 19: 29,263,693 (GRCm39) probably benign Het
Kcnt1 T C 2: 25,778,137 (GRCm39) F85S probably damaging Het
Kcnu1 G A 8: 26,427,528 (GRCm39) V282M probably damaging Het
Lancl1 T G 1: 67,060,029 (GRCm39) E132A probably benign Het
Or4g7 T C 2: 111,309,209 (GRCm39) F27L probably benign Het
Or5b106 A G 19: 13,123,993 (GRCm39) F10S probably damaging Het
Pigm G A 1: 172,204,770 (GRCm39) A169T probably damaging Het
Ppargc1a A G 5: 51,652,063 (GRCm39) Y212H probably damaging Het
Ppp1r13l A T 7: 19,111,936 (GRCm39) probably benign Het
Pramel12 T C 4: 143,145,650 (GRCm39) L373P probably damaging Het
Rictor T C 15: 6,804,182 (GRCm39) I554T probably damaging Het
Sbno1 G A 5: 124,519,568 (GRCm39) probably benign Het
Sesn2 G T 4: 132,226,418 (GRCm39) L194I probably damaging Het
Slc26a2 A T 18: 61,334,801 (GRCm39) Y217* probably null Het
Sptbn5 G T 2: 119,886,908 (GRCm39) probably benign Het
Tmem184a A T 5: 139,798,899 (GRCm39) S17T possibly damaging Het
Trhr T C 15: 44,092,603 (GRCm39) M280T possibly damaging Het
Ube2j1 A T 4: 33,045,115 (GRCm39) E129D probably benign Het
Ube4b A T 4: 149,415,951 (GRCm39) S3T probably damaging Het
Vmn2r49 A T 7: 9,710,601 (GRCm39) C710* probably null Het
Vmn2r82 C T 10: 79,192,581 (GRCm39) R53C probably benign Het
Zdhhc2 T C 8: 40,917,284 (GRCm39) L227P probably damaging Het
Zfp995 A C 17: 22,099,972 (GRCm39) H87Q possibly damaging Het
Other mutations in Ccdc65
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01072:Ccdc65 APN 15 98,606,277 (GRCm39) start codon destroyed unknown
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
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
Posted On 2014-02-04