Incidental Mutation 'IGL00336:Ccnt1'
ID 4042
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ccnt1
Ensembl Gene ENSMUSG00000011960
Gene Name cyclin T1
Synonyms 2810478G24Rik, CycT1
Accession Numbers
Essential gene? Probably essential (E-score: 0.911) question?
Stock # IGL00336
Quality Score
Status
Chromosome 15
Chromosomal Location 98436570-98468340 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 98462990 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 61 (T61A)
Ref Sequence ENSEMBL: ENSMUSP00000130286 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000012104] [ENSMUST00000168928] [ENSMUST00000169707]
AlphaFold Q9QWV9
Predicted Effect probably benign
Transcript: ENSMUST00000012104
AA Change: T61A

PolyPhen 2 Score 0.100 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000012104
Gene: ENSMUSG00000011960
AA Change: T61A

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: ENSMUST00000130921
Predicted Effect noncoding transcript
Transcript: ENSMUST00000163781
Predicted Effect noncoding transcript
Transcript: ENSMUST00000164294
Predicted Effect noncoding transcript
Transcript: ENSMUST00000164565
Predicted Effect possibly damaging
Transcript: ENSMUST00000168928
AA Change: T61A

PolyPhen 2 Score 0.753 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000130286
Gene: ENSMUSG00000011960
AA Change: T61A

DomainStartEndE-ValueType
CYCLIN 43 142 5.89e-17 SMART
Blast:CYCLIN 155 182 3e-9 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000169707
AA Change: T61A

PolyPhen 2 Score 0.100 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000126874
Gene: ENSMUSG00000011960
AA Change: T61A

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
Coding Region Coverage
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: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A430033K04Rik A G 5: 138,645,366 (GRCm39) Y417C probably damaging Het
Adam28 T A 14: 68,859,569 (GRCm39) H548L possibly damaging Het
Agbl3 A T 6: 34,823,771 (GRCm39) D812V probably damaging Het
Aopep A T 13: 63,163,237 (GRCm39) D86V possibly damaging Het
Aox1 T A 1: 58,098,203 (GRCm39) L305Q probably damaging Het
Arhgef38 A G 3: 132,837,812 (GRCm39) V706A probably benign Het
Arl15 A G 13: 114,291,288 (GRCm39) I171V probably benign Het
Cacna1s C A 1: 136,012,011 (GRCm39) Y237* probably null Het
Col25a1 T A 3: 129,975,433 (GRCm39) probably benign Het
Col4a1 T A 8: 11,290,077 (GRCm39) probably benign Het
Dcun1d1 T C 3: 35,970,455 (GRCm39) E130G possibly damaging Het
Dnah7b G A 1: 46,181,309 (GRCm39) M1065I probably benign Het
Ephb2 T G 4: 136,384,795 (GRCm39) K872T probably damaging Het
Fga G A 3: 82,938,981 (GRCm39) G452D probably damaging Het
Flrt1 T A 19: 7,074,277 (GRCm39) N90I probably damaging Het
Fut10 T A 8: 31,685,319 (GRCm39) probably null Het
Gm4553 T C 7: 141,718,964 (GRCm39) S155G unknown Het
Gpr137b T C 13: 13,549,000 (GRCm39) probably benign Het
Gprc5d G A 6: 135,093,488 (GRCm39) Q140* probably null Het
Ifi27l2b T C 12: 103,417,476 (GRCm39) K237R unknown Het
Ipo8 A T 6: 148,684,284 (GRCm39) M836K possibly damaging Het
Kcnq4 G A 4: 120,555,213 (GRCm39) Q657* probably null Het
Lama1 A T 17: 68,120,943 (GRCm39) H2693L probably benign Het
Lrrc23 A G 6: 124,755,889 (GRCm39) W40R probably damaging Het
Minar1 T C 9: 89,485,196 (GRCm39) D67G probably damaging Het
Morn2 C A 17: 80,602,933 (GRCm39) probably benign Het
Ms4a6b T A 19: 11,506,854 (GRCm39) N214K possibly damaging Het
Nags A T 11: 102,039,892 (GRCm39) S527C probably damaging Het
Ndst1 C T 18: 60,841,028 (GRCm39) G218D probably damaging Het
Or10j5 G A 1: 172,785,045 (GRCm39) V228M probably benign Het
Or5b94 T A 19: 12,651,924 (GRCm39) Y118* probably null Het
Or8h7 C T 2: 86,720,589 (GRCm39) C310Y probably benign Het
Oxa1l G T 14: 54,600,802 (GRCm39) G92* probably null Het
Parp16 A T 9: 65,137,245 (GRCm39) E157V probably damaging Het
Pcdh17 A T 14: 84,684,984 (GRCm39) I484F probably damaging Het
Pex16 A G 2: 92,209,580 (GRCm39) R263G probably benign Het
Pkd1l3 G A 8: 110,356,869 (GRCm39) E765K possibly damaging Het
Plce1 T C 19: 38,640,350 (GRCm39) V532A probably damaging Het
Polq A G 16: 36,885,609 (GRCm39) probably benign Het
Pramel5 T C 4: 143,998,191 (GRCm39) T351A probably damaging Het
Prokr1 A T 6: 87,565,593 (GRCm39) I84N probably damaging Het
Prss30 A T 17: 24,192,695 (GRCm39) S162T probably benign Het
Ranbp2 A G 10: 58,287,806 (GRCm39) K25E probably damaging Het
Rapsn A G 2: 90,866,205 (GRCm39) T22A probably damaging Het
Rhoj G T 12: 75,355,680 (GRCm39) G9V probably damaging Het
Rnf213 A G 11: 119,340,169 (GRCm39) R3467G probably benign Het
Rreb1 C A 13: 38,113,622 (GRCm39) S327* probably null Het
Scn5a G A 9: 119,315,290 (GRCm39) P1806L probably damaging Het
Sema6a C A 18: 47,423,042 (GRCm39) probably null Het
Stag3 G A 5: 138,295,921 (GRCm39) E416K probably benign Het
Stpg1 T A 4: 135,256,856 (GRCm39) S216T possibly damaging Het
Tfeb C A 17: 48,102,589 (GRCm39) N426K probably benign Het
Trp53bp1 G T 2: 121,087,060 (GRCm39) Q199K possibly damaging Het
Ubr4 A G 4: 139,155,877 (GRCm39) D2234G probably damaging Het
Ush1c T G 7: 45,846,194 (GRCm39) Q866P probably benign Het
Vdr T A 15: 97,782,735 (GRCm39) D29V probably damaging Het
Vps13c T C 9: 67,853,224 (GRCm39) V2439A probably benign Het
Xirp2 T C 2: 67,342,942 (GRCm39) S1728P possibly damaging Het
Zfp9 A G 6: 118,441,436 (GRCm39) S409P probably damaging Het
Other mutations in Ccnt1
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
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
Posted On 2012-04-20