Incidental Mutation 'IGL00900:Ccnt1'
ID29029
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ccnt1
Ensembl Gene ENSMUSG00000011960
Gene Namecyclin T1
Synonyms2810478G24Rik, CycT1
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.945) question?
Stock #IGL00900
Quality Score
Status
Chromosome15
Chromosomal Location98538689-98570923 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 98554633 bp
ZygosityHeterozygous
Amino Acid Change Valine to Alanine at position 134 (V134A)
Ref Sequence ENSEMBL: ENSMUSP00000126874 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000012104] [ENSMUST00000168928] [ENSMUST00000169707]
Predicted Effect probably damaging
Transcript: ENSMUST00000012104
AA Change: V134A

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000012104
Gene: ENSMUSG00000011960
AA Change: V134A

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: ENSMUST00000164294
Predicted Effect noncoding transcript
Transcript: ENSMUST00000164565
Predicted Effect probably damaging
Transcript: ENSMUST00000168928
AA Change: V134A

PolyPhen 2 Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000130286
Gene: ENSMUSG00000011960
AA Change: V134A

DomainStartEndE-ValueType
CYCLIN 43 142 5.89e-17 SMART
Blast:CYCLIN 155 182 3e-9 BLAST
Predicted Effect probably damaging
Transcript: ENSMUST00000169707
AA Change: V134A

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000126874
Gene: ENSMUSG00000011960
AA Change: V134A

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
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: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aatf T C 11: 84,470,557 probably benign Het
Agap3 G A 5: 24,476,368 probably benign Het
Angptl2 A T 2: 33,243,772 M369L probably benign Het
Arhgef11 A G 3: 87,683,560 D36G possibly damaging Het
Ces1e T C 8: 93,217,617 H191R probably damaging Het
Dhh A G 15: 98,898,220 probably benign Het
Edil3 C A 13: 89,289,533 H418N probably benign Het
Fam161b T C 12: 84,355,969 I296V probably benign Het
Focad T A 4: 88,129,023 N86K probably damaging Het
Foxn1 C T 11: 78,371,283 G87S probably benign Het
Glipr1l2 T C 10: 112,097,982 Y220H probably benign Het
Hnrnpa1 A G 15: 103,243,739 probably benign Het
Hnrnpm C A 17: 33,649,902 R517L probably damaging Het
Ipo11 T C 13: 106,847,444 M797V possibly damaging Het
Klhdc2 T A 12: 69,303,534 F118I probably benign Het
Mtap T A 4: 89,172,357 Y221* probably null Het
Myh2 T C 11: 67,179,384 V414A probably damaging Het
Ncor2 A T 5: 125,025,784 Y1999N probably damaging Het
Olfr1167 A G 2: 88,149,260 F253S possibly damaging Het
Oxsm A G 14: 16,242,023 S249P probably damaging Het
Pabpc4l T A 3: 46,447,072 I46F possibly damaging Het
Pcnx2 A G 8: 125,863,236 probably benign Het
Rasal2 A G 1: 157,411,929 S4P possibly damaging Het
Reln A G 5: 21,980,117 V1534A probably damaging Het
Rnf138 T A 18: 21,020,960 D174E possibly damaging Het
Sh3pxd2a T A 19: 47,314,155 N162Y probably benign Het
Slc6a4 A T 11: 77,023,180 T519S probably benign Het
Slfn9 A T 11: 82,981,371 C846* probably null Het
Ssfa2 G A 2: 79,660,478 R980Q probably damaging Het
Trip12 A G 1: 84,724,764 S1945P possibly damaging Het
Vmn1r232 A G 17: 20,914,132 F69L probably benign Het
Zeb2 T C 2: 44,997,275 D545G probably damaging Het
Other mutations in Ccnt1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00336:Ccnt1 APN 15 98565109 missense possibly damaging 0.75
IGL01798:Ccnt1 APN 15 98544241 missense probably benign 0.00
IGL02126:Ccnt1 APN 15 98567603 missense probably damaging 1.00
IGL02341:Ccnt1 APN 15 98546783 missense possibly damaging 0.92
Lifecycle UTSW 15 98565124 nonsense probably null
R0049:Ccnt1 UTSW 15 98565079 missense probably benign 0.05
R0049:Ccnt1 UTSW 15 98565079 missense probably benign 0.05
R1116:Ccnt1 UTSW 15 98544338 missense probably damaging 1.00
R2063:Ccnt1 UTSW 15 98551942 missense probably benign 0.25
R2065:Ccnt1 UTSW 15 98551942 missense probably benign 0.25
R2066:Ccnt1 UTSW 15 98551942 missense probably benign 0.25
R2068:Ccnt1 UTSW 15 98551942 missense probably benign 0.25
R2180:Ccnt1 UTSW 15 98543600 missense possibly damaging 0.74
R3917:Ccnt1 UTSW 15 98544059 missense probably benign 0.00
R4805:Ccnt1 UTSW 15 98544308 missense probably benign 0.00
R4830:Ccnt1 UTSW 15 98543451 missense probably damaging 1.00
R4836:Ccnt1 UTSW 15 98567563 missense probably damaging 0.96
R5320:Ccnt1 UTSW 15 98544243 missense probably benign 0.35
R5740:Ccnt1 UTSW 15 98544500 missense probably benign 0.01
R5870:Ccnt1 UTSW 15 98543513 nonsense probably null
R6074:Ccnt1 UTSW 15 98543324 missense probably damaging 1.00
R6413:Ccnt1 UTSW 15 98543969 missense probably benign 0.01
R6610:Ccnt1 UTSW 15 98565101 missense probably damaging 1.00
R7260:Ccnt1 UTSW 15 98565124 nonsense probably null
R7752:Ccnt1 UTSW 15 98543916 missense probably benign 0.00
R7901:Ccnt1 UTSW 15 98543916 missense probably benign 0.00
Posted On2013-04-17