Incidental Mutation 'R4830:Ccnt1'
ID 372764
Institutional Source Beutler Lab
Gene Symbol Ccnt1
Ensembl Gene ENSMUSG00000011960
Gene Name cyclin T1
Synonyms 2810478G24Rik, CycT1
MMRRC Submission 042446-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.911) question?
Stock # R4830 (G1)
Quality Score 225
Status Validated
Chromosome 15
Chromosomal Location 98436570-98468340 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 98441332 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Lysine at position 645 (N645K)
Ref Sequence ENSEMBL: ENSMUSP00000126874 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000012104] [ENSMUST00000168928] [ENSMUST00000169707]
AlphaFold Q9QWV9
Predicted Effect probably damaging
Transcript: ENSMUST00000012104
AA Change: N645K

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000012104
Gene: ENSMUSG00000011960
AA Change: N645K

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 probably damaging
Transcript: ENSMUST00000169707
AA Change: N645K

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000126874
Gene: ENSMUSG00000011960
AA Change: N645K

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
Meta Mutation Damage Score 0.0806 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.7%
  • 20x: 93.5%
Validation Efficiency 97% (71/73)
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
Abcd3 C A 3: 121,553,933 (GRCm39) G643V probably damaging Het
Adamtsl1 A G 4: 86,274,619 (GRCm39) E1225G probably damaging Het
Agbl5 G A 5: 31,048,059 (GRCm39) R111H probably damaging Het
Ankle2 A C 5: 110,389,879 (GRCm39) K446Q probably damaging Het
Boc A C 16: 44,310,520 (GRCm39) M800R probably damaging Het
Cd93 G A 2: 148,285,299 (GRCm39) Q16* probably null Het
Cpsf4l G T 11: 113,600,328 (GRCm39) probably benign Het
Cuzd1 T A 7: 130,919,783 (GRCm39) D111V probably damaging Het
Dab2 T C 15: 6,457,008 (GRCm39) C232R probably benign Het
Dmpk A T 7: 18,821,453 (GRCm39) Y237F probably damaging Het
Dnah6 T A 6: 73,021,745 (GRCm39) T3526S possibly damaging Het
Dock2 T C 11: 34,223,767 (GRCm39) probably null Het
Dsp G A 13: 38,376,840 (GRCm39) V1542I probably benign Het
Dst T A 1: 34,237,586 (GRCm39) probably null Het
Esd T C 14: 74,978,600 (GRCm39) L54S probably damaging Het
Exd1 C T 2: 119,350,807 (GRCm39) A485T probably benign Het
Gm3604 A T 13: 62,516,857 (GRCm39) N500K probably damaging Het
Grhl2 T A 15: 37,335,903 (GRCm39) probably null Het
Gsto1 C T 19: 47,852,830 (GRCm39) R222C probably benign Het
Inpp4a T A 1: 37,410,861 (GRCm39) M343K probably damaging Het
Itpripl2 T C 7: 118,090,280 (GRCm39) Q93R probably benign Het
Jakmip2 G A 18: 43,700,208 (GRCm39) T450I probably benign Het
Kdm6b A T 11: 69,294,620 (GRCm39) I1186N unknown Het
Kif1a T C 1: 92,948,931 (GRCm39) probably null Het
Klhl20 T C 1: 160,925,946 (GRCm39) K434R probably benign Het
Lemd3 T C 10: 120,767,853 (GRCm39) D697G probably damaging Het
Lipo3 A G 19: 33,753,987 (GRCm39) S383P probably damaging Het
Ltn1 C A 16: 87,176,582 (GRCm39) K1741N probably damaging Het
Lvrn A T 18: 47,038,418 (GRCm39) T991S probably damaging Het
Macroh2a2 C T 10: 61,575,132 (GRCm39) D355N possibly damaging Het
Mast3 C A 8: 71,241,559 (GRCm39) R151L possibly damaging Het
Mplkipl1 C T 19: 61,164,364 (GRCm39) G24R unknown Het
Muc4 G C 16: 32,753,919 (GRCm38) R1265P probably benign Het
Myoz1 T C 14: 20,705,377 (GRCm39) K14E probably damaging Het
Neb G T 2: 52,082,532 (GRCm39) Q5450K probably damaging Het
Nedd1 T A 10: 92,522,120 (GRCm39) N639I probably damaging Het
Nlrp4e A T 7: 23,036,165 (GRCm39) N673Y probably benign Het
Nop53 C T 7: 15,676,129 (GRCm39) R190Q probably damaging Het
Notch4 T C 17: 34,789,092 (GRCm39) Y468H probably damaging Het
Obscn T C 11: 58,958,433 (GRCm39) T3507A probably damaging Het
Opn5 T C 17: 42,922,187 (GRCm39) H5R probably benign Het
Or4l15 T C 14: 50,197,681 (GRCm39) N283D probably damaging Het
Patl1 T C 19: 11,902,515 (GRCm39) M349T probably benign Het
Phactr3 A G 2: 177,925,811 (GRCm39) N362S probably damaging Het
Pirb C T 7: 3,720,602 (GRCm39) G299S probably benign Het
Rapgef5 G A 12: 117,719,809 (GRCm39) R579Q probably damaging Het
Rgl1 T C 1: 152,430,081 (GRCm39) D234G probably benign Het
Serpinb3a C T 1: 106,976,316 (GRCm39) E122K probably benign Het
Slc22a15 T C 3: 101,782,919 (GRCm39) probably benign Het
Slc25a12 A T 2: 71,127,149 (GRCm39) V344E probably damaging Het
Slc43a2 T C 11: 75,434,119 (GRCm39) L99P probably damaging Het
Smim27 G T 4: 40,269,719 (GRCm39) probably null Het
Smtn A G 11: 3,470,736 (GRCm39) probably benign Het
Szt2 A T 4: 118,226,445 (GRCm39) Y3001N unknown Het
Tgfbr3 G T 5: 107,257,585 (GRCm39) P825T probably damaging Het
Tnpo3 T C 6: 29,568,937 (GRCm39) T472A probably benign Het
Trf T A 9: 103,105,114 (GRCm39) D66V probably damaging Het
Vmn1r124 A G 7: 20,993,624 (GRCm39) C307R probably damaging Het
Vps13b T A 15: 35,452,370 (GRCm39) F656Y possibly damaging Het
Zic1 G T 9: 91,244,584 (GRCm39) S358R 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
R2180:Ccnt1 UTSW 15 98,441,481 (GRCm39) missense possibly damaging 0.74
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
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'- AGGTTTGTCTGTAGTGCCAG -3'
(R):5'- TACTCGTAAAAGGGGTCCCC -3'

Sequencing Primer
(F):5'- CAGATCTGGAGGAGATGGCACC -3'
(R):5'- GGCAGCAGTATTTGATCATCCAGC -3'
Posted On 2016-03-01