Incidental Mutation 'IGL01536:Ccnc'
ID 89958
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ccnc
Ensembl Gene ENSMUSG00000028252
Gene Name cyclin C
Synonyms
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL01536
Quality Score
Status
Chromosome 4
Chromosomal Location 21727701-21759922 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 21732505 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Valine at position 81 (I81V)
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: I81V

PolyPhen 2 Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000069076
Gene: ENSMUSG00000028252
AA Change: I81V

DomainStartEndE-ValueType
CYCLIN 46 144 2.41e-13 SMART
CYCLIN 157 236 4.11e-7 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000102997
AA Change: I81V

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000100062
Gene: ENSMUSG00000028252
AA Change: I81V

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: I81V

PolyPhen 2 Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000103875
Gene: ENSMUSG00000028252
AA Change: I81V

DomainStartEndE-ValueType
CYCLIN 46 144 2.41e-13 SMART
CYCLIN 157 236 4.11e-7 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000120679
AA Change: I81V

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000113682
Gene: ENSMUSG00000028252
AA Change: I81V

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
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: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Atp5f1a T C 18: 77,868,012 (GRCm39) probably benign Het
Cep112 A G 11: 108,422,237 (GRCm39) D560G probably null Het
Dis3 A G 14: 99,316,859 (GRCm39) Y826H probably damaging Het
Dtx2 A G 5: 136,038,940 (GRCm39) probably benign Het
Enpp4 T C 17: 44,410,494 (GRCm39) K361E possibly damaging Het
Erap1 A T 13: 74,810,542 (GRCm39) K294* probably null Het
Erbb4 T A 1: 68,329,441 (GRCm39) Y636F probably benign Het
Fads1 C A 19: 10,171,394 (GRCm39) Q342K probably benign Het
Fntb A T 12: 76,966,904 (GRCm39) T447S probably benign Het
Hdac4 A G 1: 91,857,868 (GRCm39) probably benign Het
Kcnh2 A G 5: 24,531,522 (GRCm39) I463T probably damaging Het
Kif13a G T 13: 46,905,765 (GRCm39) T726K probably damaging Het
Lcmt1 T C 7: 123,021,966 (GRCm39) S275P possibly damaging Het
Lmnb1 T C 18: 56,873,868 (GRCm39) S425P probably benign Het
Lrp1b T C 2: 41,000,895 (GRCm39) I2224V probably benign Het
Lrrc45 A T 11: 120,606,410 (GRCm39) T173S probably benign Het
Muc4 T C 16: 32,584,340 (GRCm39) Y2590H possibly damaging Het
Myo18a C T 11: 77,711,677 (GRCm39) P676L probably damaging Het
Or5m10 T C 2: 85,717,944 (GRCm39) S267P probably damaging Het
Pcdhb15 T C 18: 37,608,046 (GRCm39) M426T probably benign Het
Pik3cd A G 4: 149,737,123 (GRCm39) V891A probably damaging Het
Polr1b A G 2: 128,967,475 (GRCm39) N956S probably benign Het
Ppil3 T C 1: 58,483,750 (GRCm39) M1V probably null Het
Rad1 T A 15: 10,493,286 (GRCm39) S238T possibly damaging Het
Shc3 A C 13: 51,670,595 (GRCm39) S51A probably damaging Het
Slc9c1 T C 16: 45,409,992 (GRCm39) probably null Het
Smg5 A G 3: 88,256,552 (GRCm39) K273E possibly damaging Het
Sntg1 C T 1: 8,653,424 (GRCm39) probably null Het
Sstr4 T C 2: 148,237,800 (GRCm39) L137P probably damaging Het
Taar8b C T 10: 23,967,493 (GRCm39) V234I probably benign Het
Tbc1d9 A G 8: 83,987,621 (GRCm39) Y860C probably damaging Het
Tll1 A T 8: 64,527,323 (GRCm39) S399R probably damaging Het
Tns1 T C 1: 73,958,807 (GRCm39) probably benign Het
Trim10 T A 17: 37,188,180 (GRCm39) probably null Het
Ttn C T 2: 76,562,695 (GRCm39) probably null Het
Usp43 T C 11: 67,746,764 (GRCm39) D981G probably benign Het
Vmn2r108 A T 17: 20,683,543 (GRCm39) C554S probably damaging Het
Vmn2r112 T A 17: 22,824,136 (GRCm39) Y464N probably damaging Het
Vmn2r31 T C 7: 7,387,847 (GRCm39) K575E probably damaging Het
Vmn2r50 C T 7: 9,771,610 (GRCm39) C697Y probably damaging Het
Zcchc8 A C 5: 123,858,782 (GRCm39) probably null Het
Other mutations in Ccnc
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00895:Ccnc APN 4 21,742,642 (GRCm39) nonsense probably null
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
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
Posted On 2013-12-03