Incidental Mutation 'R1700:Ccp110'
ID 189657
Institutional Source Beutler Lab
Gene Symbol Ccp110
Ensembl Gene ENSMUSG00000033904
Gene Name centriolar coiled coil protein 110
Synonyms 6330503K22Rik, CP110
MMRRC Submission 039733-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.889) question?
Stock # R1700 (G1)
Quality Score 225
Status Not validated
Chromosome 7
Chromosomal Location 118311775-118336247 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 118334536 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Isoleucine at position 1003 (T1003I)
Ref Sequence ENSEMBL: ENSMUSP00000102167 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000038650] [ENSMUST00000059390] [ENSMUST00000106557]
AlphaFold Q7TSH4
Predicted Effect probably damaging
Transcript: ENSMUST00000038650
AA Change: T1003I

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000038881
Gene: ENSMUSG00000033904
AA Change: T1003I

DomainStartEndE-ValueType
Pfam:CALM_bind 29 135 7.4e-21 PFAM
low complexity region 241 253 N/A INTRINSIC
low complexity region 325 337 N/A INTRINSIC
coiled coil region 642 699 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000059390
SMART Domains Protein: ENSMUSP00000051263
Gene: ENSMUSG00000030982

DomainStartEndE-ValueType
low complexity region 71 100 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000106557
AA Change: T1003I

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000102167
Gene: ENSMUSG00000033904
AA Change: T1003I

DomainStartEndE-ValueType
low complexity region 50 62 N/A INTRINSIC
low complexity region 241 253 N/A INTRINSIC
low complexity region 325 337 N/A INTRINSIC
coiled coil region 642 699 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000123178
Predicted Effect noncoding transcript
Transcript: ENSMUST00000140831
Predicted Effect noncoding transcript
Transcript: ENSMUST00000149056
Predicted Effect silent
Transcript: ENSMUST00000208766
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.4%
  • 20x: 92.8%
Validation Efficiency
MGI Phenotype PHENOTYPE: Mice homozygous for a knock-out allele exhibit pleiotropic phenotypes due to impaired sonic hedgehog (Shh) signaling and failure of primary cilia formation in multiple tissues. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 72 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb1b T C 5: 8,899,537 (GRCm39) F936L probably benign Het
Adamts12 T A 15: 11,152,143 (GRCm39) I211N probably benign Het
Adamts16 G A 13: 70,927,637 (GRCm39) probably benign Het
Alas1 C T 9: 106,116,845 (GRCm39) V293I possibly damaging Het
Ap1g1 T C 8: 110,580,244 (GRCm39) Y569H probably damaging Het
Apc2 A G 10: 80,148,603 (GRCm39) D1190G probably damaging Het
Astn2 G A 4: 65,664,591 (GRCm39) Q679* probably null Het
Atp2a1 T A 7: 126,062,081 (GRCm39) H5L probably damaging Het
Baiap3 T C 17: 25,468,302 (GRCm39) K279E probably damaging Het
C2cd2l G A 9: 44,227,909 (GRCm39) P111S probably benign Het
C7 T A 15: 5,032,274 (GRCm39) K646* probably null Het
Cdh22 T C 2: 165,012,716 (GRCm39) D123G probably damaging Het
Cep295 C T 9: 15,252,179 (GRCm39) E397K probably damaging Het
Clip1 A G 5: 123,768,433 (GRCm39) V722A probably benign Het
Cpsf4l A G 11: 113,592,901 (GRCm39) F174S probably benign Het
Ctnna3 T C 10: 63,688,551 (GRCm39) C332R probably damaging Het
Cxcl10 A T 5: 92,495,714 (GRCm39) N76K probably damaging Het
Dnaaf9 G A 2: 130,551,858 (GRCm39) L1010F probably damaging Het
Dnaja3 G A 16: 4,502,029 (GRCm39) R11K probably null Het
Efcab10 A G 12: 33,445,170 (GRCm39) T28A possibly damaging Het
Esrrg A G 1: 187,775,850 (GRCm39) R103G probably damaging Het
Exosc2 A G 2: 31,560,818 (GRCm39) K23E probably benign Het
Flot2 C T 11: 77,940,373 (GRCm39) S40L possibly damaging Het
Fsip2 T C 2: 82,822,081 (GRCm39) V5938A probably benign Het
Gclc A G 9: 77,683,571 (GRCm39) T143A probably benign Het
Gpr37 A G 6: 25,669,623 (GRCm39) V407A probably benign Het
Gucy2e A T 11: 69,122,884 (GRCm39) M497K probably benign Het
Herc1 T A 9: 66,357,960 (GRCm39) probably null Het
Hnrnpll A C 17: 80,341,534 (GRCm39) S502A probably benign Het
Ipo11 G T 13: 106,932,170 (GRCm39) T975N probably benign Het
Kif17 C T 4: 137,990,009 (GRCm39) Q66* probably null Het
Lrp10 T C 14: 54,707,209 (GRCm39) V682A possibly damaging Het
Lsmem1 A T 12: 40,230,677 (GRCm39) L75Q probably damaging Het
Med16 A T 10: 79,735,169 (GRCm39) Y430N probably benign Het
Med8 C T 4: 118,269,931 (GRCm39) S72L possibly damaging Het
Mex3a A G 3: 88,443,682 (GRCm39) T253A probably damaging Het
Myf6 T C 10: 107,329,220 (GRCm39) K242E probably damaging Het
Ncald T A 15: 37,397,587 (GRCm39) Y31F probably benign Het
Ndufa12 T A 10: 94,035,855 (GRCm39) Y48N probably damaging Het
Or12e10 T C 2: 87,641,112 (GRCm39) V316A probably benign Het
Or51q1c T A 7: 103,653,329 (GRCm39) Y282* probably null Het
Or5as1 T G 2: 86,980,123 (GRCm39) N294T probably damaging Het
Pde4dip T C 3: 97,610,639 (GRCm39) T1858A probably benign Het
Pgbd1 A G 13: 21,618,651 (GRCm39) L2P probably damaging Het
Piezo1 C T 8: 123,214,241 (GRCm39) R1642H probably damaging Het
Plxna1 A T 6: 89,333,990 (GRCm39) M213K probably damaging Het
Polr1b A G 2: 128,965,041 (GRCm39) N709S probably damaging Het
Pramel1 T A 4: 143,124,999 (GRCm39) W308R probably damaging Het
Prkag2 A T 5: 25,076,539 (GRCm39) I208N probably damaging Het
Ptpro T A 6: 137,420,592 (GRCm39) V1007D probably damaging Het
Rngtt T A 4: 33,330,864 (GRCm39) F156I probably damaging Het
Rpusd3 A G 6: 113,392,494 (GRCm39) *345Q probably null Het
Rrp1b A G 17: 32,276,178 (GRCm39) K575R probably benign Het
Shd G A 17: 56,281,307 (GRCm39) V250I probably damaging Het
Slc12a5 C A 2: 164,834,296 (GRCm39) N749K possibly damaging Het
Sorbs2 T A 8: 46,254,021 (GRCm39) V488D probably damaging Het
Sphkap G A 1: 83,255,236 (GRCm39) R838* probably null Het
Srsf4 C A 4: 131,627,871 (GRCm39) probably benign Het
Strn T C 17: 78,999,831 (GRCm39) Y135C probably damaging Het
Synm T C 7: 67,409,376 (GRCm39) M1V probably null Het
Tas1r3 T G 4: 155,946,027 (GRCm39) Q489P probably benign Het
Tas2r103 A T 6: 133,013,774 (GRCm39) N97K probably damaging Het
Tas2r113 A G 6: 132,870,755 (GRCm39) Y261C possibly damaging Het
Tex21 T C 12: 76,268,446 (GRCm39) E112G probably damaging Het
Trappc8 T C 18: 20,966,055 (GRCm39) S1128G probably damaging Het
Ubap1l A G 9: 65,279,025 (GRCm39) probably benign Het
Ubash3a A G 17: 31,434,018 (GRCm39) D121G probably damaging Het
Ubxn4 A G 1: 128,180,023 (GRCm39) I56V possibly damaging Het
Uri1 T C 7: 37,662,949 (GRCm39) I348M probably damaging Het
Usp21 C A 1: 171,111,295 (GRCm39) L379F probably damaging Het
Vmn1r159 T A 7: 22,542,390 (GRCm39) H214L probably damaging Het
Zdbf2 A G 1: 63,341,900 (GRCm39) E93G unknown Het
Other mutations in Ccp110
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00089:Ccp110 APN 7 118,321,647 (GRCm39) missense possibly damaging 0.79
IGL00481:Ccp110 APN 7 118,329,220 (GRCm39) missense possibly damaging 0.70
IGL00725:Ccp110 APN 7 118,329,946 (GRCm39) missense probably damaging 0.99
IGL00899:Ccp110 APN 7 118,321,907 (GRCm39) missense probably benign
IGL01837:Ccp110 APN 7 118,324,684 (GRCm39) critical splice donor site probably null
PIT4469001:Ccp110 UTSW 7 118,321,600 (GRCm39) missense probably benign 0.06
R1217:Ccp110 UTSW 7 118,329,167 (GRCm39) splice site probably benign
R1640:Ccp110 UTSW 7 118,314,751 (GRCm39) splice site probably null
R1768:Ccp110 UTSW 7 118,325,247 (GRCm39) splice site probably null
R4737:Ccp110 UTSW 7 118,323,771 (GRCm39) missense possibly damaging 0.96
R4859:Ccp110 UTSW 7 118,324,653 (GRCm39) missense possibly damaging 0.93
R4933:Ccp110 UTSW 7 118,324,542 (GRCm39) missense probably damaging 0.96
R4970:Ccp110 UTSW 7 118,321,614 (GRCm39) missense possibly damaging 0.85
R4999:Ccp110 UTSW 7 118,329,235 (GRCm39) nonsense probably null
R5212:Ccp110 UTSW 7 118,328,919 (GRCm39) missense probably damaging 0.99
R5600:Ccp110 UTSW 7 118,328,948 (GRCm39) critical splice donor site probably null
R6953:Ccp110 UTSW 7 118,321,644 (GRCm39) missense possibly damaging 0.85
R6998:Ccp110 UTSW 7 118,332,120 (GRCm39) missense possibly damaging 0.91
R7076:Ccp110 UTSW 7 118,331,628 (GRCm39) missense probably damaging 1.00
R7092:Ccp110 UTSW 7 118,334,494 (GRCm39) missense probably benign 0.26
R7336:Ccp110 UTSW 7 118,321,433 (GRCm39) missense probably damaging 0.99
R7343:Ccp110 UTSW 7 118,323,798 (GRCm39) missense probably benign 0.03
R7866:Ccp110 UTSW 7 118,322,241 (GRCm39) missense probably benign 0.07
R8306:Ccp110 UTSW 7 118,321,903 (GRCm39) missense probably benign 0.12
R8951:Ccp110 UTSW 7 118,321,015 (GRCm39) missense possibly damaging 0.70
R8961:Ccp110 UTSW 7 118,322,110 (GRCm39) missense probably damaging 0.96
R9036:Ccp110 UTSW 7 118,324,680 (GRCm39) missense probably damaging 0.98
R9252:Ccp110 UTSW 7 118,321,673 (GRCm39) missense probably benign
R9652:Ccp110 UTSW 7 118,334,553 (GRCm39) missense
Predicted Primers PCR Primer
(F):5'- GTTAGAGCAGACATTCAGCAGGTCC -3'
(R):5'- ATTATACAGGCCAATGCTCAGCCC -3'

Sequencing Primer
(F):5'- GCTGAGTTCTCAGAGCTTCCAG -3'
(R):5'- GCTCAGCCCTCGCTGTC -3'
Posted On 2014-05-14