Incidental Mutation 'R4901:Ccnc'
ID 376143
Institutional Source Beutler Lab
Gene Symbol Ccnc
Ensembl Gene ENSMUSG00000028252
Gene Name cyclin C
Synonyms
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R4901 (G1)
Quality Score 126
Status Not validated
Chromosome 4
Chromosomal Location 21727701-21759922 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 21727894 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Serine at position 4 (N4S)
Ref Sequence ENSEMBL: ENSMUSP00000113682 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000065928] [ENSMUST00000102997] [ENSMUST00000108240] [ENSMUST00000120679]
AlphaFold Q62447
Predicted Effect possibly damaging
Transcript: ENSMUST00000065928
AA Change: N4S

PolyPhen 2 Score 0.916 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000069076
Gene: ENSMUSG00000028252
AA Change: N4S

DomainStartEndE-ValueType
CYCLIN 46 144 2.41e-13 SMART
CYCLIN 157 236 4.11e-7 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000102997
AA Change: N4S

PolyPhen 2 Score 0.961 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000100062
Gene: ENSMUSG00000028252
AA Change: N4S

DomainStartEndE-ValueType
CYCLIN 46 144 2.41e-13 SMART
CYCLIN 157 236 4.11e-7 SMART
low complexity region 258 264 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000108240
AA Change: N4S

PolyPhen 2 Score 0.916 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000103875
Gene: ENSMUSG00000028252
AA Change: N4S

DomainStartEndE-ValueType
CYCLIN 46 144 2.41e-13 SMART
CYCLIN 157 236 4.11e-7 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000120679
AA Change: N4S

PolyPhen 2 Score 0.961 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000113682
Gene: ENSMUSG00000028252
AA Change: N4S

DomainStartEndE-ValueType
CYCLIN 46 144 2.41e-13 SMART
CYCLIN 157 236 4.11e-7 SMART
low complexity region 258 264 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000123294
Predicted Effect noncoding transcript
Transcript: ENSMUST00000133597
Predicted Effect noncoding transcript
Transcript: ENSMUST00000133712
Predicted Effect noncoding transcript
Transcript: ENSMUST00000145288
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.3%
  • 10x: 96.4%
  • 20x: 92.6%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of the cyclin family of proteins. The encoded protein interacts with cyclin-dependent kinase 8 and induces the phophorylation of the carboxy-terminal domain of the large subunit of RNA polymerase II. The level of mRNAs for this gene peaks in the G1 phase of the cell cycle. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous null mice die prenatally and exhibit growth retardation and placental defects. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcg4 C T 9: 44,188,954 (GRCm39) probably null Het
Arg2 T C 12: 79,194,485 (GRCm39) V103A probably damaging Het
Bicra T A 7: 15,721,526 (GRCm39) T664S possibly damaging Het
Bptf A T 11: 107,001,686 (GRCm39) Y475* probably null Het
Calcrl T C 2: 84,163,857 (GRCm39) I445V probably benign Het
Ccdc110 G A 8: 46,396,437 (GRCm39) R776Q probably benign Het
Ccni G A 5: 93,331,003 (GRCm39) R323W probably damaging Het
Celsr2 T A 3: 108,314,303 (GRCm39) M1241L possibly damaging Het
Cpd T C 11: 76,681,707 (GRCm39) I1145M probably damaging Het
Cybb C G X: 9,316,989 (GRCm39) D246H probably benign Het
Cyp2j8 T A 4: 96,367,323 (GRCm39) D265V probably benign Het
Dennd2a T C 6: 39,499,621 (GRCm39) T315A probably benign Het
Dgkz T A 2: 91,767,076 (GRCm39) Q905L probably benign Het
Dnah8 G A 17: 31,059,688 (GRCm39) probably null Het
Elp2 A G 18: 24,752,542 (GRCm39) H365R probably damaging Het
Gm136 G A 4: 34,746,580 (GRCm39) Q144* probably null Het
Gon4l T C 3: 88,815,458 (GRCm39) V2008A possibly damaging Het
Hjurp GT GTT 1: 88,194,246 (GRCm39) probably null Het
Isyna1 A T 8: 71,049,246 (GRCm39) H414L probably damaging Het
Kif20b A G 19: 34,911,836 (GRCm39) Y233C probably benign Het
Klk1 A T 7: 43,878,139 (GRCm39) I132F probably damaging Het
Klre1 A T 6: 129,561,188 (GRCm39) H183L probably benign Het
Lrp1b T C 2: 40,711,657 (GRCm39) T3188A probably damaging Het
Mapk12 A T 15: 89,018,841 (GRCm39) L198* probably null Het
Mt4 A C 8: 94,864,912 (GRCm39) T29P possibly damaging Het
Myh14 C T 7: 44,310,464 (GRCm39) V140I probably damaging Het
Nr1h4 T C 10: 89,314,659 (GRCm39) Q269R possibly damaging Het
Or4p23 C G 2: 88,577,231 (GRCm39) probably null Het
Or51e1 A G 7: 102,359,405 (GRCm39) H313R probably benign Het
Pde1b A G 15: 103,435,112 (GRCm39) I421V probably null Het
Pde3b A T 7: 114,107,425 (GRCm39) T519S probably damaging Het
Phf21a T A 2: 92,187,346 (GRCm39) C178* probably null Het
Phtf2 A G 5: 21,010,722 (GRCm39) S88P possibly damaging Het
Pik3c3 A G 18: 30,435,982 (GRCm39) M394V possibly damaging Het
Plxnb1 C T 9: 108,934,027 (GRCm39) P752S probably benign Het
Pp2d1 C A 17: 53,822,037 (GRCm39) G343V probably benign Het
Ppp6r2 A G 15: 89,143,272 (GRCm39) I140V possibly damaging Het
Ppp6r3 C A 19: 3,517,229 (GRCm39) V75L probably damaging Het
Ptprq T A 10: 107,524,275 (GRCm39) H486L probably benign Het
Rasgrf1 C T 9: 89,877,056 (GRCm39) T807M probably benign Het
Rasgrp3 C A 17: 75,821,111 (GRCm39) Y439* probably null Het
Rbm44 A G 1: 91,081,050 (GRCm39) T413A probably benign Het
Rnf135 T C 11: 80,089,662 (GRCm39) C333R probably damaging Het
Scfd2 A G 5: 74,680,226 (GRCm39) V309A probably damaging Het
Semp2l1 T C 1: 32,585,701 (GRCm39) S70G probably benign Het
Serpina3m A T 12: 104,355,908 (GRCm39) K192* probably null Het
Sft2d1rt A G 11: 45,942,656 (GRCm39) S156P probably damaging Het
Sh3tc2 A G 18: 62,123,506 (GRCm39) I756V probably benign Het
Slc27a4 T C 2: 29,702,648 (GRCm39) V516A probably damaging Het
Sult2a5 T A 7: 13,359,188 (GRCm39) C55S probably benign Het
Tars3 C T 7: 65,341,042 (GRCm39) T783M probably benign Het
Tet2 A T 3: 133,172,805 (GRCm39) I1819N possibly damaging Het
Timeless T C 10: 128,086,631 (GRCm39) F1057L probably damaging Het
Ttn T A 2: 76,628,418 (GRCm39) I12835F probably damaging Het
Uhrf1 T A 17: 56,617,834 (GRCm39) D185E probably benign Het
Vmn2r74 G T 7: 85,605,199 (GRCm39) S483* probably null Het
Xpo1 A T 11: 23,231,327 (GRCm39) I304F possibly damaging Het
Zc3h11a A G 1: 133,552,449 (GRCm39) S553P probably benign Het
Zdhhc1 A G 8: 106,199,484 (GRCm39) S402P probably benign Het
Zwilch T C 9: 64,070,028 (GRCm39) Y101C probably damaging Het
Other mutations in Ccnc
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00895:Ccnc APN 4 21,742,642 (GRCm39) nonsense probably null
IGL01536:Ccnc APN 4 21,732,505 (GRCm39) missense probably benign 0.01
IGL03083:Ccnc APN 4 21,742,683 (GRCm39) missense possibly damaging 0.83
R1220:Ccnc UTSW 4 21,732,491 (GRCm39) missense probably damaging 1.00
R1237:Ccnc UTSW 4 21,730,457 (GRCm39) missense probably benign
R1558:Ccnc UTSW 4 21,742,671 (GRCm39) missense probably benign 0.31
R2012:Ccnc UTSW 4 21,741,955 (GRCm39) missense possibly damaging 0.65
R6427:Ccnc UTSW 4 21,747,578 (GRCm39) critical splice donor site probably null
R6509:Ccnc UTSW 4 21,740,642 (GRCm39) missense probably benign 0.27
R7421:Ccnc UTSW 4 21,743,291 (GRCm39) missense probably damaging 1.00
R7563:Ccnc UTSW 4 21,732,220 (GRCm39) missense probably damaging 0.99
R7842:Ccnc UTSW 4 21,730,480 (GRCm39) missense probably damaging 0.99
R7917:Ccnc UTSW 4 21,748,158 (GRCm39) missense possibly damaging 0.72
R8023:Ccnc UTSW 4 21,747,578 (GRCm39) critical splice donor site probably null
R9408:Ccnc UTSW 4 21,746,776 (GRCm39) critical splice donor site probably null
Predicted Primers PCR Primer
(F):5'- ACTTTTGTCTGCCGGAACC -3'
(R):5'- GCTCCCGAAATCTCTCTGTG -3'

Sequencing Primer
(F):5'- TACGCCGCTCAGTGTTG -3'
(R):5'- CTCTCTGTGAGAAGAGGGGAG -3'
Posted On 2016-03-17