|Institutional Source||Beutler Lab|
|Gene Name||topoisomerase (DNA) II beta|
|Is this an essential gene?||Probably essential (E-score: 0.904)|
|Stock #||R0201 (G1)|
|Chromosomal Location||16365179-16435462 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to C at 16383174 bp|
|Amino Acid Change||Leucine to Proline at position 54 (L54P)|
|Ref Sequence||ENSEMBL: ENSMUSP00000017629 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000017629]|
|Predicted Effect||probably damaging
AA Change: L54P
PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
AA Change: L54P
|Meta Mutation Damage Score||0.6851|
|Coding Region Coverage||
|Validation Efficiency||97% (91/94)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a DNA topoisomerase, an enzyme that controls and alters the topologic states of DNA during transcription. This nuclear enzyme is involved in processes such as chromosome condensation, chromatid separation, and the relief of torsional stress that occurs during DNA transcription and replication. It catalyzes the transient breaking and rejoining of two strands of duplex DNA which allows the strands to pass through one another, thus altering the topology of DNA. Two forms of this enzyme exist as likely products of a gene duplication event. The gene encoding this form, beta, is localized to chromosome 3 and the alpha form is localized to chromosome 17. The gene encoding this enzyme functions as the target for several anticancer agents and a variety of mutations in this gene have been associated with the development of drug resistance. Reduced activity of this enzyme may also play a role in ataxia-telangiectasia. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2016]
PHENOTYPE: Homozygous null mice exhibit abnormal innervation. Offspring die shortly after birth due to respiratory failure. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Top2b||
(F):5'- TCCTTTGGGAAGTTTTGGGGAACAC -3'
(R):5'- AGAGTCTCGCGCATTGTCTTAGC -3'
(F):5'- CCTTGATATCTTAGAGAGCTGGGAC -3'
(R):5'- GCGCATTGTCTTAGCTCCTC -3'