Incidental Mutation 'IGL01370:Ccnt2'
ID 76104
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ccnt2
Ensembl Gene ENSMUSG00000026349
Gene Name cyclin T2
Synonyms 2900041I18Rik, CycT2
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL01370
Quality Score
Status
Chromosome 1
Chromosomal Location 127701901-127732574 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 127731250 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Serine at position 709 (F709S)
Ref Sequence ENSEMBL: ENSMUSP00000027587 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027587] [ENSMUST00000112570]
AlphaFold Q7TQK0
Predicted Effect possibly damaging
Transcript: ENSMUST00000027587
AA Change: F709S

PolyPhen 2 Score 0.488 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000027587
Gene: ENSMUSG00000026349
AA Change: F709S

DomainStartEndE-ValueType
CYCLIN 42 141 4.27e-14 SMART
CYCLIN 154 242 4.51e0 SMART
low complexity region 531 543 N/A INTRINSIC
low complexity region 621 653 N/A INTRINSIC
low complexity region 658 664 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000112570
SMART Domains Protein: ENSMUSP00000108189
Gene: ENSMUSG00000026349

DomainStartEndE-ValueType
CYCLIN 42 141 4.27e-14 SMART
CYCLIN 154 242 4.51e0 SMART
low complexity region 531 543 N/A INTRINSIC
low complexity region 621 634 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000153359
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 belongs to the highly conserved cyclin family, whose members are characterized by a dramatic periodicity in protein abundance through the cell cycle. Cyclins function as regulators of CDK kinases. Different cyclins exhibit distinct expression and degradation patterns which contribute to the temporal coordination of each mitotic event. This cyclin and its kinase partner CDK9 were found to be subunits of the transcription elongation factor p-TEFb. The p-TEFb complex containing this cyclin was reported to interact with, and act as a negative regulator of human immunodeficiency virus type 1 (HIV-1) Tat protein. A pseudogene of this gene is found on chromosome 1. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Dec 2010]
PHENOTYPE: Mice homozygous for a gene trap allele die prior to the 4-cell stage. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adck1 A T 12: 88,423,503 (GRCm39) probably benign Het
Add1 C T 5: 34,787,859 (GRCm39) T210I probably damaging Het
Ajm1 T C 2: 25,468,969 (GRCm39) E314G possibly damaging Het
Alpk2 A T 18: 65,483,662 (GRCm39) D115E possibly damaging Het
Ankrd36 C T 11: 5,534,019 (GRCm39) T290I probably benign Het
Bltp1 T A 3: 37,001,904 (GRCm39) I1283N probably benign Het
Castor2 T C 5: 134,167,111 (GRCm39) V323A probably benign Het
Erc1 T C 6: 119,801,426 (GRCm39) E197G probably damaging Het
Ftsj3 G T 11: 106,143,145 (GRCm39) R390S possibly damaging Het
Gabrb3 G A 7: 57,466,226 (GRCm39) A347T probably benign Het
Gde1 A G 7: 118,288,383 (GRCm39) probably benign Het
Jhy A T 9: 40,828,438 (GRCm39) N489K probably benign Het
Kiss1r A G 10: 79,754,658 (GRCm39) T51A probably benign Het
Lama5 T C 2: 179,839,193 (GRCm39) S772G possibly damaging Het
Lamb2 G T 9: 108,364,932 (GRCm39) probably null Het
Loxl3 A G 6: 83,026,468 (GRCm39) T475A probably damaging Het
Lpl A T 8: 69,340,220 (GRCm39) S72C possibly damaging Het
Lrrc74a A T 12: 86,801,204 (GRCm39) I352F probably damaging Het
Mcoln2 T C 3: 145,887,585 (GRCm39) I334T possibly damaging Het
Mettl8 T G 2: 70,812,383 (GRCm39) D49A probably damaging Het
Ms4a3 T A 19: 11,610,245 (GRCm39) T106S probably benign Het
Obscn T A 11: 58,886,389 (GRCm39) probably null Het
Or14j2 T C 17: 37,885,412 (GRCm39) I301V probably null Het
Or1o11 C A 17: 37,756,605 (GRCm39) H64Q probably benign Het
Or1p1c G A 11: 74,160,325 (GRCm39) V37I probably benign Het
Or4n4 G T 14: 50,519,689 (GRCm39) T7K probably damaging Het
Or5b107 A T 19: 13,142,663 (GRCm39) Y95F possibly damaging Het
Pcnx2 T C 8: 126,528,222 (GRCm39) K1333E probably damaging Het
Pias3 T C 3: 96,610,891 (GRCm39) F364L probably damaging Het
Piezo2 T A 18: 63,155,531 (GRCm39) I2438F probably damaging Het
Plcb3 A C 19: 6,940,192 (GRCm39) V465G probably damaging Het
Plekho2 G T 9: 65,465,912 (GRCm39) H159N probably damaging Het
Polr2e A G 10: 79,872,681 (GRCm39) probably benign Het
Rab6b G T 9: 103,041,094 (GRCm39) V163L probably benign Het
Rabep1 A G 11: 70,816,607 (GRCm39) M597V probably benign Het
Rbm15 A G 3: 107,238,326 (GRCm39) S691P probably damaging Het
Sec24b G A 3: 129,801,253 (GRCm39) probably benign Het
Slc6a18 A G 13: 73,815,150 (GRCm39) I386T probably damaging Het
Stxbp3 A C 3: 108,704,741 (GRCm39) Y497* probably null Het
Styk1 T C 6: 131,278,615 (GRCm39) K353R probably damaging Het
Tbc1d10b A T 7: 126,798,253 (GRCm39) H629Q probably damaging Het
Tbc1d5 T A 17: 51,273,755 (GRCm39) I119F probably benign Het
Tcp11l1 G T 2: 104,536,831 (GRCm39) D11E probably benign Het
Tfap2d A G 1: 19,175,009 (GRCm39) Y154C probably damaging Het
Tgm5 T C 2: 120,884,018 (GRCm39) N325S probably benign Het
Thbs2 T C 17: 14,910,327 (GRCm39) K91E possibly damaging Het
Vmn2r26 T A 6: 124,038,715 (GRCm39) F763L probably benign Het
Washc4 A G 10: 83,394,694 (GRCm39) E308G probably damaging Het
Xpot C A 10: 121,440,399 (GRCm39) A611S probably benign Het
Other mutations in Ccnt2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00807:Ccnt2 APN 1 127,725,628 (GRCm39) splice site probably benign
IGL02055:Ccnt2 APN 1 127,719,447 (GRCm39) missense possibly damaging 0.46
IGL02169:Ccnt2 APN 1 127,702,126 (GRCm39) splice site probably benign
R0526:Ccnt2 UTSW 1 127,727,182 (GRCm39) missense probably damaging 1.00
R0538:Ccnt2 UTSW 1 127,730,902 (GRCm39) missense probably damaging 0.98
R0744:Ccnt2 UTSW 1 127,730,131 (GRCm39) missense probably benign 0.42
R0833:Ccnt2 UTSW 1 127,730,131 (GRCm39) missense probably benign 0.42
R0836:Ccnt2 UTSW 1 127,730,131 (GRCm39) missense probably benign 0.42
R1763:Ccnt2 UTSW 1 127,727,143 (GRCm39) missense possibly damaging 0.94
R2037:Ccnt2 UTSW 1 127,731,136 (GRCm39) missense probably damaging 1.00
R2159:Ccnt2 UTSW 1 127,702,891 (GRCm39) missense probably benign 0.00
R4585:Ccnt2 UTSW 1 127,730,766 (GRCm39) missense probably damaging 0.99
R5342:Ccnt2 UTSW 1 127,719,470 (GRCm39) splice site silent
R5527:Ccnt2 UTSW 1 127,730,401 (GRCm39) missense probably benign 0.00
R5698:Ccnt2 UTSW 1 127,730,965 (GRCm39) missense probably benign 0.00
R6606:Ccnt2 UTSW 1 127,730,978 (GRCm39) missense probably benign 0.00
R6821:Ccnt2 UTSW 1 127,731,072 (GRCm39) missense probably damaging 0.99
R6979:Ccnt2 UTSW 1 127,702,873 (GRCm39) missense probably damaging 0.97
R7512:Ccnt2 UTSW 1 127,730,031 (GRCm39) missense possibly damaging 0.85
R8743:Ccnt2 UTSW 1 127,702,020 (GRCm39) missense probably damaging 1.00
R9334:Ccnt2 UTSW 1 127,723,046 (GRCm39) missense probably damaging 0.99
R9722:Ccnt2 UTSW 1 127,729,925 (GRCm39) missense probably damaging 1.00
X0019:Ccnt2 UTSW 1 127,702,877 (GRCm39) missense probably damaging 1.00
X0027:Ccnt2 UTSW 1 127,702,025 (GRCm39) missense probably damaging 0.98
Z1177:Ccnt2 UTSW 1 127,730,795 (GRCm39) missense probably damaging 1.00
Posted On 2013-10-07