Incidental Mutation 'IGL00895:Ccnc'
ID27195
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ccnc
Ensembl Gene ENSMUSG00000028252
Gene Namecyclin C
Synonyms
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL00895
Quality Score
Status
Chromosome4
Chromosomal Location21727701-21759922 bp(+) (GRCm38)
Type of Mutationnonsense
DNA Base Change (assembly) T to A at 21742642 bp
ZygosityHeterozygous
Amino Acid Change Tyrosine to Stop codon at position 156 (Y156*)
Ref Sequence ENSEMBL: ENSMUSP00000113682 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000065928] [ENSMUST00000102997] [ENSMUST00000108240] [ENSMUST00000120679]
Predicted Effect probably null
Transcript: ENSMUST00000065928
AA Change: Y156*
SMART Domains Protein: ENSMUSP00000069076
Gene: ENSMUSG00000028252
AA Change: Y156*

DomainStartEndE-ValueType
CYCLIN 46 144 2.41e-13 SMART
CYCLIN 157 236 4.11e-7 SMART
Predicted Effect probably null
Transcript: ENSMUST00000102997
AA Change: Y156*
SMART Domains Protein: ENSMUSP00000100062
Gene: ENSMUSG00000028252
AA Change: Y156*

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 null
Transcript: ENSMUST00000108240
AA Change: Y156*
SMART Domains Protein: ENSMUSP00000103875
Gene: ENSMUSG00000028252
AA Change: Y156*

DomainStartEndE-ValueType
CYCLIN 46 144 2.41e-13 SMART
CYCLIN 157 236 4.11e-7 SMART
Predicted Effect probably null
Transcript: ENSMUST00000120679
AA Change: Y156*
SMART Domains Protein: ENSMUSP00000113682
Gene: ENSMUSG00000028252
AA Change: Y156*

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
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: 25 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arl6ip6 T A 2: 53,202,924 W154R probably damaging Het
Clca1 A C 3: 145,024,596 W163G probably damaging Het
Cntnap5b C T 1: 100,383,585 T972I probably damaging Het
Cpn2 C T 16: 30,260,520 S121N probably benign Het
Dcc T C 18: 71,810,800 E260G probably damaging Het
Dnah6 A T 6: 73,156,350 N1091K possibly damaging Het
Dpp9 G T 17: 56,205,240 F249L probably damaging Het
Dscaml1 A G 9: 45,751,253 D1839G probably damaging Het
E330017A01Rik A T 16: 58,637,696 Y81N probably benign Het
Esr1 C T 10: 4,997,890 R481L probably benign Het
Frem2 G T 3: 53,585,595 D1833E probably damaging Het
Ica1 T C 6: 8,653,514 D343G probably benign Het
Il27 T C 7: 126,589,383 H206R probably benign Het
Med14 A G X: 12,680,800 V723A probably damaging Het
Msh3 C A 13: 92,344,964 G347C probably damaging Het
Nfasc T A 1: 132,573,798 K1262* probably null Het
Nlrp9a A T 7: 26,558,678 M485L probably benign Het
Olfr1216 A G 2: 89,013,609 F152L probably benign Het
Olfr1313 A G 2: 112,071,755 V276A probably damaging Het
Pcdhb5 T G 18: 37,320,983 L139V probably benign Het
Rbfox1 A T 16: 7,369,834 K43N probably benign Het
Scn5a G T 9: 119,513,104 probably null Het
Senp7 G T 16: 56,082,377 R21L probably damaging Het
Ssb G A 2: 69,866,262 V47I probably benign Het
Ttll8 T A 15: 88,933,528 S221C probably damaging Het
Other mutations in Ccnc
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01536:Ccnc APN 4 21732505 missense probably benign 0.01
IGL03083:Ccnc APN 4 21742683 missense possibly damaging 0.83
R1220:Ccnc UTSW 4 21732491 missense probably damaging 1.00
R1237:Ccnc UTSW 4 21730457 missense probably benign
R1558:Ccnc UTSW 4 21742671 missense probably benign 0.31
R2012:Ccnc UTSW 4 21741955 missense possibly damaging 0.65
R4901:Ccnc UTSW 4 21727894 missense probably damaging 0.96
R6427:Ccnc UTSW 4 21747578 critical splice donor site probably null
R6509:Ccnc UTSW 4 21740642 missense probably benign 0.27
R7421:Ccnc UTSW 4 21743291 missense probably damaging 1.00
R7563:Ccnc UTSW 4 21732220 missense probably damaging 0.99
R7842:Ccnc UTSW 4 21730480 missense probably damaging 0.99
R7925:Ccnc UTSW 4 21730480 missense probably damaging 0.99
R8023:Ccnc UTSW 4 21747578 critical splice donor site probably null
Posted On2013-04-17