Incidental Mutation 'R6427:Ccnc'
ID 518352
Institutional Source Beutler Lab
Gene Symbol Ccnc
Ensembl Gene ENSMUSG00000028252
Gene Name cyclin C
Synonyms
MMRRC Submission 044566-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R6427 (G1)
Quality Score 155.008
Status Validated
Chromosome 4
Chromosomal Location 21727701-21759922 bp(+) (GRCm39)
Type of Mutation critical splice donor site (2 bp from exon)
DNA Base Change (assembly) T to A at 21747578 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000069076 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000065928] [ENSMUST00000102997] [ENSMUST00000108240] [ENSMUST00000120679]
AlphaFold Q62447
Predicted Effect probably null
Transcript: ENSMUST00000065928
SMART Domains Protein: ENSMUSP00000069076
Gene: ENSMUSG00000028252

DomainStartEndE-ValueType
CYCLIN 46 144 2.41e-13 SMART
CYCLIN 157 236 4.11e-7 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000102997
SMART Domains Protein: ENSMUSP00000100062
Gene: ENSMUSG00000028252

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
SMART Domains Protein: ENSMUSP00000103875
Gene: ENSMUSG00000028252

DomainStartEndE-ValueType
CYCLIN 46 144 2.41e-13 SMART
CYCLIN 157 236 4.11e-7 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000120679
SMART Domains Protein: ENSMUSP00000113682
Gene: ENSMUSG00000028252

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: ENSMUST00000133712
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 97.8%
  • 20x: 93.1%
Validation Efficiency 93% (39/42)
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: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abat C T 16: 8,420,300 (GRCm39) probably benign Het
Ankmy2 A G 12: 36,237,710 (GRCm39) S270G possibly damaging Het
Anxa2 T A 9: 69,383,431 (GRCm39) probably null Het
Arid1a G T 4: 133,408,835 (GRCm39) P1891T unknown Het
Atn1 G T 6: 124,723,139 (GRCm39) probably benign Het
Atp8b3 A T 10: 80,356,157 (GRCm39) probably null Het
Cab39l A C 14: 59,743,719 (GRCm39) K94N possibly damaging Het
Cacna2d2 G T 9: 107,392,641 (GRCm39) M528I possibly damaging Het
Cfap251 T C 5: 123,464,596 (GRCm39) L1268P probably damaging Het
Clasp2 C T 9: 113,721,512 (GRCm39) T774I probably damaging Het
Cngb1 C T 8: 96,024,387 (GRCm39) probably benign Het
Cpt1a T A 19: 3,412,156 (GRCm39) F209L probably damaging Het
Cyp2j7 C A 4: 96,115,904 (GRCm39) D181Y probably damaging Het
Daam2 C T 17: 49,776,404 (GRCm39) E828K probably damaging Het
Ddr1 C A 17: 35,998,114 (GRCm39) R477L probably benign Het
Ech1 A G 7: 28,525,310 (GRCm39) T22A probably benign Het
Fbln5 T C 12: 101,728,081 (GRCm39) D294G possibly damaging Het
Fkbp15 T C 4: 62,241,439 (GRCm39) I569V probably benign Het
Hmcn1 G T 1: 150,573,227 (GRCm39) R2141S possibly damaging Het
Kat6b T C 14: 21,567,480 (GRCm39) S180P probably benign Het
Lepr G A 4: 101,631,454 (GRCm39) E655K possibly damaging Het
Mro T A 18: 74,005,104 (GRCm39) L69Q probably damaging Het
Nipbl A T 15: 8,381,049 (GRCm39) L581H probably benign Het
Nkiras2 C T 11: 100,515,861 (GRCm39) R63W probably damaging Het
Nlrp4e T A 7: 23,020,058 (GRCm39) S182T possibly damaging Het
Obi1 T C 14: 104,717,662 (GRCm39) K237R possibly damaging Het
Or52b4i A T 7: 102,191,895 (GRCm39) I251F probably benign Het
Otud4 T C 8: 80,395,126 (GRCm39) S553P probably benign Het
Pcdha4 T C 18: 37,086,786 (GRCm39) I323T probably benign Het
Polr1b G T 2: 128,965,181 (GRCm39) A756S probably damaging Het
Prex2 A T 1: 11,252,255 (GRCm39) Y1100F probably damaging Het
Serpinb6a A T 13: 34,102,242 (GRCm39) S328T probably damaging Het
Srsf11 C T 3: 157,728,981 (GRCm39) probably benign Het
Stxbp5 T C 10: 9,774,998 (GRCm39) T52A probably damaging Het
Taf3 A T 2: 9,956,164 (GRCm39) F515I probably damaging Het
Unc13b A G 4: 43,176,966 (GRCm39) probably benign Het
Vmn2r106 C T 17: 20,488,725 (GRCm39) C558Y probably damaging Het
Vps51 T C 19: 6,120,947 (GRCm39) Y322C possibly damaging Het
Zfp735 G A 11: 73,581,140 (GRCm39) C59Y possibly damaging Het
Zfp759 A G 13: 67,287,162 (GRCm39) probably null 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
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'- CACTGCTGGTTACAGTGGTG -3'
(R):5'- AGCAGTCTGGAAGTTAGTGTC -3'

Sequencing Primer
(F):5'- TACAGTGGTGTCGAGTTGAGAAG -3'
(R):5'- CAGTCTGGAAGTTAGTGTCCATATAC -3'
Posted On 2018-05-24