Incidental Mutation 'R1220:Ccnc'
ID 99985
Institutional Source Beutler Lab
Gene Symbol Ccnc
Ensembl Gene ENSMUSG00000028252
Gene Name cyclin C
Synonyms
MMRRC Submission 039289-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R1220 (G1)
Quality Score 225
Status Validated
Chromosome 4
Chromosomal Location 21727701-21759922 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 21732491 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 76 (Y76C)
Ref Sequence ENSEMBL: ENSMUSP00000103875 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000065928] [ENSMUST00000102997] [ENSMUST00000108240] [ENSMUST00000120679]
AlphaFold Q62447
Predicted Effect probably damaging
Transcript: ENSMUST00000065928
AA Change: Y76C

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000069076
Gene: ENSMUSG00000028252
AA Change: Y76C

DomainStartEndE-ValueType
CYCLIN 46 144 2.41e-13 SMART
CYCLIN 157 236 4.11e-7 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000102997
AA Change: Y76C

PolyPhen 2 Score 0.110 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000100062
Gene: ENSMUSG00000028252
AA Change: Y76C

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 damaging
Transcript: ENSMUST00000108240
AA Change: Y76C

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000103875
Gene: ENSMUSG00000028252
AA Change: Y76C

DomainStartEndE-ValueType
CYCLIN 46 144 2.41e-13 SMART
CYCLIN 157 236 4.11e-7 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000120679
AA Change: Y76C

PolyPhen 2 Score 0.110 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000113682
Gene: ENSMUSG00000028252
AA Change: Y76C

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
Meta Mutation Damage Score 0.1302 question?
Coding Region Coverage
  • 1x: 98.9%
  • 3x: 97.9%
  • 10x: 95.2%
  • 20x: 89.2%
Validation Efficiency 100% (35/35)
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: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acsm1 C A 7: 119,257,537 (GRCm39) S407R probably benign Het
Add2 A T 6: 86,063,982 (GRCm39) M94L possibly damaging Het
Anks6 A T 4: 47,025,767 (GRCm39) probably benign Het
Atxn1 A G 13: 45,710,899 (GRCm39) S678P probably benign Het
Col1a1 G T 11: 94,841,957 (GRCm39) A1335S unknown Het
Col25a1 G T 3: 130,182,574 (GRCm39) probably benign Het
Commd10 C A 18: 47,220,107 (GRCm39) Q195K probably damaging Het
Cps1 G A 1: 67,243,862 (GRCm39) probably null Het
Cramp1 A T 17: 25,201,211 (GRCm39) V757D probably damaging Het
Cttn T C 7: 144,017,699 (GRCm39) T13A probably benign Het
Eftud2 A G 11: 102,742,573 (GRCm39) probably benign Het
Eif4enif1 A G 11: 3,189,493 (GRCm39) probably benign Het
Exoc3l2 T A 7: 19,225,709 (GRCm39) probably benign Het
Fam118b T C 9: 35,134,969 (GRCm39) S213G possibly damaging Het
Katnal1 G A 5: 148,831,061 (GRCm39) A171V probably benign Het
Lrig3 A G 10: 125,832,945 (GRCm39) N273S probably damaging Het
Lrriq1 G A 10: 102,906,990 (GRCm39) R1577W probably benign Het
Or1e26 A C 11: 73,480,203 (GRCm39) Y120* probably null Het
Or5p70 T A 7: 107,994,539 (GRCm39) S71T probably benign Het
Pmel A G 10: 128,549,929 (GRCm39) D30G probably benign Het
Ppp1r15a T C 7: 45,173,293 (GRCm39) Y505C probably damaging Het
Prpf40b C T 15: 99,214,229 (GRCm39) R830C probably benign Het
Rabgap1l A T 1: 160,566,479 (GRCm39) D106E probably damaging Het
Rad18 C A 6: 112,626,625 (GRCm39) E141* probably null Het
Ros1 C T 10: 51,974,966 (GRCm39) V1540M probably damaging Het
Secisbp2 G A 13: 51,810,941 (GRCm39) R201H probably damaging Het
Shisa6 A G 11: 66,110,836 (GRCm39) S302P probably damaging Het
Slamf9 C A 1: 172,304,898 (GRCm39) Q171K probably benign Het
Sox6 T A 7: 115,261,677 (GRCm39) T180S probably damaging Het
Ttn T C 2: 76,553,998 (GRCm39) S30902G possibly damaging Het
Xirp1 A G 9: 119,846,982 (GRCm39) F634L possibly damaging Het
Yrdc T A 4: 124,748,329 (GRCm39) S278T possibly 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
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
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'- GGTTCAGAAAGTGTCAAAGTGTGCCTA -3'
(R):5'- TGGCCCTTTTACCCAAAATGGATTCTAC -3'

Sequencing Primer
(F):5'- GCTACTGCTACAGTCTATTTCAAGAG -3'
(R):5'- cacacacacacacacacac -3'
Posted On 2014-01-15