Incidental Mutation 'R6509:Ccnc'
ID 519861
Institutional Source Beutler Lab
Gene Symbol Ccnc
Ensembl Gene ENSMUSG00000028252
Gene Name cyclin C
Synonyms
MMRRC Submission 044422-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R6509 (G1)
Quality Score 225.009
Status Not validated
Chromosome 4
Chromosomal Location 21727701-21759922 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 21740642 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Aspartic acid at position 133 (N133D)
Ref Sequence ENSEMBL: ENSMUSP00000103875 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000065928] [ENSMUST00000102997] [ENSMUST00000108240] [ENSMUST00000120679]
AlphaFold Q62447
Predicted Effect probably benign
Transcript: ENSMUST00000065928
AA Change: N133D

PolyPhen 2 Score 0.274 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000069076
Gene: ENSMUSG00000028252
AA Change: N133D

DomainStartEndE-ValueType
CYCLIN 46 144 2.41e-13 SMART
CYCLIN 157 236 4.11e-7 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000102997
AA Change: N133D

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
SMART Domains Protein: ENSMUSP00000100062
Gene: ENSMUSG00000028252
AA Change: N133D

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 probably benign
Transcript: ENSMUST00000108240
AA Change: N133D

PolyPhen 2 Score 0.274 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000103875
Gene: ENSMUSG00000028252
AA Change: N133D

DomainStartEndE-ValueType
CYCLIN 46 144 2.41e-13 SMART
CYCLIN 157 236 4.11e-7 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000120679
AA Change: N133D

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000113682
Gene: ENSMUSG00000028252
AA Change: N133D

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
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 97.7%
  • 20x: 92.9%
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: 16 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930522L14Rik G A 5: 109,885,250 (GRCm39) R203* probably null Het
Cfap299 C T 5: 98,477,256 (GRCm39) T15I probably benign Het
Lbhd2 A G 12: 111,376,747 (GRCm39) R65G possibly damaging Het
Lrrc37a A G 11: 103,395,240 (GRCm39) S62P probably benign Het
Map3k1 T A 13: 111,890,363 (GRCm39) M1279L possibly damaging Het
Ncapg2 G A 12: 116,391,376 (GRCm39) R475Q probably damaging Het
Nlrp5 A T 7: 23,117,341 (GRCm39) N355I probably damaging Het
Or7g29 A G 9: 19,286,439 (GRCm39) V246A probably benign Het
Pdzd8 A G 19: 59,333,298 (GRCm39) F241S probably benign Het
Rgl3 A G 9: 21,883,204 (GRCm39) S705P probably benign Het
Rsbn1 A G 3: 103,867,348 (GRCm39) Y563C probably damaging Het
Septin9 A G 11: 117,181,253 (GRCm39) I18V probably benign Het
Sycp2 G A 2: 178,037,687 (GRCm39) P153S probably damaging Het
Tbc1d4 C A 14: 101,845,754 (GRCm39) R48L possibly damaging Het
Vmn1r195 G A 13: 22,463,279 (GRCm39) G250R probably benign Het
Vmn2r66 G T 7: 84,656,054 (GRCm39) P321T probably benign 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
R4901:Ccnc UTSW 4 21,727,894 (GRCm39) missense probably damaging 0.96
R6427:Ccnc UTSW 4 21,747,578 (GRCm39) critical splice donor site probably null
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'- GCTGAGAGCACCTACTGAGGATAG -3'
(R):5'- TGTAAGACTACTGCCACTCCAG -3'

Sequencing Primer
(F):5'- CTACTGAGGATAGTGCACCTTC -3'
(R):5'- TACTGCCACTCCAGTAAAATTCTG -3'
Posted On 2018-06-06