|Institutional Source||Beutler Lab|
|Gene Name||topoisomerase (DNA) II alpha|
|Synonyms||Top-2, DNA Topoisomerase II alpha|
|Is this an essential gene?||Probably essential (E-score: 0.968)|
|Stock #||R4939 (G1)|
|Chromosomal Location||98992943-99024189 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to A at 99010092 bp|
|Amino Acid Change||Histidine to Leucine at position 557 (H557L)|
|Ref Sequence||ENSEMBL: ENSMUSP00000068896 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000068031]|
|Predicted Effect||probably damaging
AA Change: H557L
PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
AA Change: H557L
|Predicted Effect||noncoding transcript
|Coding Region Coverage||
|MGI Phenotype||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, alpha, is localized to chromosome 17 and the beta gene is localized to chromosome 3. 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. [provided by RefSeq, Jul 2010]|
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Top2a||
(F):5'- CTGTGGCTTTGCACATTGTC -3'
(R):5'- TCTCTAGCAAACATCCTGTCAG -3'
(F):5'- GTCGACTCCCTGACTTAGCATAG -3'
(R):5'- TAGCAAACATCCTGTCAGAAAAGCTG -3'