Incidental Mutation 'R2180:Ccnt1'
ID 237154
Institutional Source Beutler Lab
Gene Symbol Ccnt1
Ensembl Gene ENSMUSG00000011960
Gene Name cyclin T1
Synonyms 2810478G24Rik, CycT1
MMRRC Submission 040182-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.911) question?
Stock # R2180 (G1)
Quality Score 225
Status Not validated
Chromosome 15
Chromosomal Location 98436570-98468340 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 98441481 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Threonine at position 596 (S596T)
Ref Sequence ENSEMBL: ENSMUSP00000126874 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000012104] [ENSMUST00000168928] [ENSMUST00000169707]
AlphaFold Q9QWV9
Predicted Effect possibly damaging
Transcript: ENSMUST00000012104
AA Change: S596T

PolyPhen 2 Score 0.740 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000012104
Gene: ENSMUSG00000011960
AA Change: S596T

DomainStartEndE-ValueType
CYCLIN 43 142 5.89e-17 SMART
SCOP:d1jkw_2 152 257 1e-24 SMART
Blast:CYCLIN 155 243 2e-54 BLAST
low complexity region 308 326 N/A INTRINSIC
coiled coil region 388 419 N/A INTRINSIC
low complexity region 512 529 N/A INTRINSIC
low complexity region 559 570 N/A INTRINSIC
low complexity region 706 723 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000163180
Predicted Effect noncoding transcript
Transcript: ENSMUST00000164294
Predicted Effect probably benign
Transcript: ENSMUST00000168928
SMART Domains Protein: ENSMUSP00000130286
Gene: ENSMUSG00000011960

DomainStartEndE-ValueType
CYCLIN 43 142 5.89e-17 SMART
Blast:CYCLIN 155 182 3e-9 BLAST
Predicted Effect noncoding transcript
Transcript: ENSMUST00000169674
Predicted Effect possibly damaging
Transcript: ENSMUST00000169707
AA Change: S596T

PolyPhen 2 Score 0.740 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000126874
Gene: ENSMUSG00000011960
AA Change: S596T

DomainStartEndE-ValueType
CYCLIN 43 142 5.89e-17 SMART
SCOP:d1jkw_2 152 257 1e-24 SMART
Blast:CYCLIN 155 243 2e-54 BLAST
low complexity region 308 326 N/A INTRINSIC
coiled coil region 388 419 N/A INTRINSIC
low complexity region 512 529 N/A INTRINSIC
low complexity region 559 570 N/A INTRINSIC
low complexity region 706 723 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000170452
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.1%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the highly conserved cyclin C subfamily. The encoded protein tightly associates with cyclin-dependent kinase 9, and is a major subunit of positive transcription elongation factor b (p-TEFb). In humans, there are multiple forms of positive transcription elongation factor b, which may include one of several different cyclins along with cyclin-dependent kinase 9. The complex containing the encoded cyclin and cyclin-dependent kinase 9 acts as a cofactor of human immunodeficiency virus type 1 (HIV-1) Tat protein, and is both necessary and sufficient for full activation of viral transcription. This cyclin and its kinase partner are also involved in triggering transcript elongation through phosphorylation of the carboxy-terminal domain of the largest RNA polymerase II subunit. Overexpression of this gene is implicated in tumor growth. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2013]
Allele List at MGI
Other mutations in this stock
Total: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts5 T C 16: 85,684,812 (GRCm39) D377G probably damaging Het
Adgrl4 A T 3: 151,205,779 (GRCm39) I164F probably damaging Het
Anxa9 T C 3: 95,213,735 (GRCm39) probably null Het
Aox4 A T 1: 58,252,226 (GRCm39) T34S probably benign Het
Asic1 G T 15: 99,569,846 (GRCm39) V56F probably benign Het
Atpaf1 T C 4: 115,645,557 (GRCm39) M1T probably null Het
Axin1 A G 17: 26,362,309 (GRCm39) T218A probably benign Het
Bdp1 ATTCTTCTTCTTCTTCTTC ATTCTTCTTCTTCTTCTTCTTC 13: 100,197,913 (GRCm39) probably benign Het
Birc6 T C 17: 74,919,146 (GRCm39) I1988T probably benign Het
Btbd7 A T 12: 102,752,156 (GRCm39) D869E probably damaging Het
Caln1 T C 5: 130,868,249 (GRCm39) *220Q probably null Het
Ccdc150 G A 1: 54,311,706 (GRCm39) probably null Het
Cd44 C T 2: 102,658,955 (GRCm39) G640E possibly damaging Het
Cep192 A G 18: 67,957,813 (GRCm39) E582G possibly damaging Het
Clcnkb G T 4: 141,136,819 (GRCm39) probably null Het
Dhx29 T C 13: 113,099,406 (GRCm39) probably null Het
Dnah8 T C 17: 31,059,621 (GRCm39) F4407S probably benign Het
Enah A T 1: 181,746,024 (GRCm39) M419K probably damaging Het
Fancd2 A T 6: 113,551,598 (GRCm39) T1055S probably benign Het
Gigyf2 G A 1: 87,344,642 (GRCm39) G525D probably damaging Het
Gm5800 T A 14: 51,953,451 (GRCm39) K55* probably null Het
Gpr149 A G 3: 62,511,489 (GRCm39) L170P probably damaging Het
Grik4 A T 9: 42,453,301 (GRCm39) Y695N probably benign Het
Gsg1 A T 6: 135,217,143 (GRCm39) V228D probably damaging Het
Helb G A 10: 119,941,353 (GRCm39) T445M probably benign Het
Helz2 A T 2: 180,875,525 (GRCm39) D1656E probably damaging Het
Hyou1 A T 9: 44,299,316 (GRCm39) K669M probably benign Het
Itga2 T C 13: 114,985,917 (GRCm39) N953D possibly damaging Het
Ldhd T C 8: 112,356,018 (GRCm39) I122V probably benign Het
Lrrtm1 A G 6: 77,221,329 (GRCm39) D262G probably damaging Het
Mapkapk5 T C 5: 121,673,927 (GRCm39) probably null Het
Msantd5l C A 11: 51,145,437 (GRCm39) W50L probably damaging Het
Niban1 A T 1: 151,593,829 (GRCm39) H838L probably benign Het
Numa1 T C 7: 101,649,197 (GRCm39) I976T probably benign Het
Or10x1 A G 1: 174,196,967 (GRCm39) I161M probably damaging Het
Or2a12 C T 6: 42,904,459 (GRCm39) T98I probably benign Het
Or4f14b A G 2: 111,775,348 (GRCm39) V151A probably benign Het
Or52e4 T C 7: 104,706,092 (GRCm39) I213T probably benign Het
Patj G A 4: 98,411,739 (GRCm39) probably null Het
Pfas T C 11: 68,883,013 (GRCm39) D757G possibly damaging Het
Pom121l2 A G 13: 22,166,145 (GRCm39) N139D probably benign Het
Ppp2r3d A T 9: 101,004,214 (GRCm39) Y994* probably null Het
Ppp6c T C 2: 39,087,525 (GRCm39) D227G probably benign Het
Ptpn13 T G 5: 103,717,424 (GRCm39) H1855Q probably damaging Het
Ptprh T A 7: 4,604,867 (GRCm39) Q59L probably benign Het
Rap1gap2 T C 11: 74,283,972 (GRCm39) K669E probably benign Het
Rbl2 T C 8: 91,816,683 (GRCm39) S348P possibly damaging Het
Rptor T A 11: 119,615,970 (GRCm39) N161K probably damaging Het
Satb1 C T 17: 52,110,524 (GRCm39) A192T probably damaging Het
Scn5a A G 9: 119,345,117 (GRCm39) V1083A probably benign Het
Sec14l2 C T 11: 4,058,964 (GRCm39) A194T probably damaging Het
Sema4b A G 7: 79,862,583 (GRCm39) N53S probably benign Het
Sin3b T A 8: 73,479,923 (GRCm39) Y876* probably null Het
Smchd1 C A 17: 71,770,794 (GRCm39) M129I probably benign Het
Spmip6 T A 4: 41,507,170 (GRCm39) M209L probably benign Het
Tmc1 T C 19: 20,801,448 (GRCm39) Y484C probably damaging Het
Utp20 A G 10: 88,656,801 (GRCm39) S135P probably damaging Het
Zfp266 A T 9: 20,410,975 (GRCm39) C401S probably damaging Het
Zfp738 G A 13: 67,819,313 (GRCm39) T226I probably damaging Het
Zfp871 G A 17: 32,994,275 (GRCm39) T300M probably damaging Het
Other mutations in Ccnt1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00336:Ccnt1 APN 15 98,462,990 (GRCm39) missense possibly damaging 0.75
IGL00900:Ccnt1 APN 15 98,452,514 (GRCm39) missense probably damaging 1.00
IGL01798:Ccnt1 APN 15 98,442,122 (GRCm39) missense probably benign 0.00
IGL02126:Ccnt1 APN 15 98,465,484 (GRCm39) missense probably damaging 1.00
IGL02341:Ccnt1 APN 15 98,444,664 (GRCm39) missense possibly damaging 0.92
Lifecycle UTSW 15 98,463,005 (GRCm39) nonsense probably null
R0049:Ccnt1 UTSW 15 98,462,960 (GRCm39) missense probably benign 0.05
R0049:Ccnt1 UTSW 15 98,462,960 (GRCm39) missense probably benign 0.05
R1116:Ccnt1 UTSW 15 98,442,219 (GRCm39) missense probably damaging 1.00
R2063:Ccnt1 UTSW 15 98,449,823 (GRCm39) missense probably benign 0.25
R2065:Ccnt1 UTSW 15 98,449,823 (GRCm39) missense probably benign 0.25
R2066:Ccnt1 UTSW 15 98,449,823 (GRCm39) missense probably benign 0.25
R2068:Ccnt1 UTSW 15 98,449,823 (GRCm39) missense probably benign 0.25
R3917:Ccnt1 UTSW 15 98,441,940 (GRCm39) missense probably benign 0.00
R4805:Ccnt1 UTSW 15 98,442,189 (GRCm39) missense probably benign 0.00
R4830:Ccnt1 UTSW 15 98,441,332 (GRCm39) missense probably damaging 1.00
R4836:Ccnt1 UTSW 15 98,465,444 (GRCm39) missense probably damaging 0.96
R5320:Ccnt1 UTSW 15 98,442,124 (GRCm39) missense probably benign 0.35
R5740:Ccnt1 UTSW 15 98,442,381 (GRCm39) missense probably benign 0.01
R5870:Ccnt1 UTSW 15 98,441,394 (GRCm39) nonsense probably null
R6074:Ccnt1 UTSW 15 98,441,205 (GRCm39) missense probably damaging 1.00
R6413:Ccnt1 UTSW 15 98,441,850 (GRCm39) missense probably benign 0.01
R6610:Ccnt1 UTSW 15 98,462,982 (GRCm39) missense probably damaging 1.00
R7260:Ccnt1 UTSW 15 98,463,005 (GRCm39) nonsense probably null
R7752:Ccnt1 UTSW 15 98,441,797 (GRCm39) missense probably benign 0.00
R7901:Ccnt1 UTSW 15 98,441,797 (GRCm39) missense probably benign 0.00
R7988:Ccnt1 UTSW 15 98,463,024 (GRCm39) splice site probably null
R8699:Ccnt1 UTSW 15 98,462,995 (GRCm39) missense probably damaging 0.98
R8959:Ccnt1 UTSW 15 98,441,096 (GRCm39) utr 3 prime probably benign
R9143:Ccnt1 UTSW 15 98,441,688 (GRCm39) missense probably damaging 1.00
R9153:Ccnt1 UTSW 15 98,441,159 (GRCm39) missense probably benign 0.28
R9331:Ccnt1 UTSW 15 98,441,097 (GRCm39) nonsense probably null
R9549:Ccnt1 UTSW 15 98,441,574 (GRCm39) missense probably damaging 0.99
R9684:Ccnt1 UTSW 15 98,446,566 (GRCm39) missense probably damaging 0.98
Predicted Primers PCR Primer
(F):5'- GGAGTGGAGCATATTCACAGTG -3'
(R):5'- TCTCACTTACAGCTGCCAGC -3'

Sequencing Primer
(F):5'- GGAGCATATTCACAGTGTCTTG -3'
(R):5'- CGGCCCCGTGAGCAAAC -3'
Posted On 2014-10-02