Incidental Mutation 'R7917:Ccnc'
ID 648130
Institutional Source Beutler Lab
Gene Symbol Ccnc
Ensembl Gene ENSMUSG00000028252
Gene Name cyclin C
Synonyms
MMRRC Submission 045965-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R7917 (G1)
Quality Score 225.009
Status Validated
Chromosome 4
Chromosomal Location 21727701-21759922 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 21748158 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Lysine at position 273 (N273K)
Ref Sequence ENSEMBL: ENSMUSP00000100062 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000065928] [ENSMUST00000102997] [ENSMUST00000108240] [ENSMUST00000120679]
AlphaFold Q62447
Predicted Effect probably benign
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 possibly damaging
Transcript: ENSMUST00000102997
AA Change: N273K

PolyPhen 2 Score 0.719 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000100062
Gene: ENSMUSG00000028252
AA Change: N273K

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
Meta Mutation Damage Score 0.1060 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.7%
Validation Efficiency 97% (36/37)
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
Abca8a G T 11: 109,958,933 (GRCm39) H730Q probably damaging Het
Adam20 A G 8: 41,249,408 (GRCm39) D506G probably damaging Het
Brinp1 A G 4: 68,823,190 (GRCm39) M1T probably null Het
Cfdp1 C A 8: 112,567,033 (GRCm39) V159L possibly damaging Het
Cyb5r1 T A 1: 134,334,638 (GRCm39) probably benign Het
Dsp C T 13: 38,351,615 (GRCm39) Q145* probably null Het
Exosc9 G A 3: 36,607,968 (GRCm39) V59I probably damaging Het
Fermt2 C G 14: 45,699,318 (GRCm39) R592T probably damaging Het
Fryl A G 5: 73,211,875 (GRCm39) S2381P probably damaging Het
Fscn2 G A 11: 120,258,082 (GRCm39) E335K possibly damaging Het
Hapln1 T C 13: 89,755,997 (GRCm39) I267T probably benign Het
Hdac9 T A 12: 34,483,209 (GRCm39) I93L probably benign Het
Igfn1 T C 1: 135,899,706 (GRCm39) D535G probably damaging Het
Ighv1-4 A T 12: 114,451,165 (GRCm39) F9I possibly damaging Het
Il3ra T A 14: 14,350,773 (GRCm38) H262Q possibly damaging Het
Kti12 A C 4: 108,705,443 (GRCm39) E119A probably benign Het
Kti12 G T 4: 108,705,444 (GRCm39) E119D probably benign Het
Mtg1 A T 7: 139,727,178 (GRCm39) D227V probably damaging Het
Nrcam T G 12: 44,620,546 (GRCm39) probably null Het
Or13g1 T C 7: 85,955,686 (GRCm39) T212A probably damaging Het
Or4f57 A C 2: 111,791,310 (GRCm39) V36G probably damaging Het
Or8b1 T A 9: 38,399,905 (GRCm39) Y193* probably null Het
Pcdha1 T A 18: 37,065,254 (GRCm39) D639E possibly damaging Het
Pcdhga8 T A 18: 37,860,669 (GRCm39) V575E possibly damaging Het
Pcif1 G T 2: 164,730,392 (GRCm39) R375L probably benign Het
Pcna A T 2: 132,094,929 (GRCm39) S10T probably benign Het
Pdzd8 A G 19: 59,333,518 (GRCm39) S168P probably damaging Het
Pkd1l3 GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA 8: 110,350,827 (GRCm39) probably benign Het
Polq T A 16: 36,885,650 (GRCm39) D1842E probably benign Het
Rag2 A T 2: 101,460,040 (GRCm39) N117Y probably damaging Het
Scnn1g T C 7: 121,342,916 (GRCm39) Y290H probably damaging Het
Sri T C 5: 8,113,409 (GRCm39) probably null Het
Tek T C 4: 94,708,372 (GRCm39) V361A possibly damaging Het
Terf1 T A 1: 15,889,300 (GRCm39) L243Q probably damaging Het
Thrap3 G A 4: 126,069,213 (GRCm39) T646I probably damaging Het
Uba1y A G Y: 821,274 (GRCm39) I86V probably benign Het
Vmn2r29 A G 7: 7,234,727 (GRCm39) S720P probably damaging Het
Zeb2 T C 2: 44,886,421 (GRCm39) N879D possibly damaging Het
Zfp266 T C 9: 20,416,423 (GRCm39) T56A probably benign Het
Zxdc T A 6: 90,358,991 (GRCm39) I541N 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
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
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'- AGGGCCTCAAGCTACAGAAG -3'
(R):5'- GTATGGCTATAGGTTCCTTTAGAGC -3'

Sequencing Primer
(F):5'- GCCTCAAGCTACAGAAGAATAAAAAC -3'
(R):5'- CATCTGCTTCCAATGAAGA -3'
Posted On 2020-09-15