|Institutional Source||Beutler Lab|
|Gene Name||DNA topoisomerase 1, mitochondrial|
|Is this an essential gene?||Possibly non essential (E-score: 0.282)|
|Stock #||R7273 (G1)|
|Chromosomal Location||75657035-75678800 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to G at 75664082 bp|
|Amino Acid Change||Valine to Alanine at position 457 (V457A)|
|Ref Sequence||ENSEMBL: ENSMUSP00000000958 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000000958]|
|Predicted Effect||probably benign
AA Change: V457A
PolyPhen 2 Score 0.273 (Sensitivity: 0.91; Specificity: 0.88)
AA Change: V457A
|Meta Mutation Damage Score||0.0898|
|Coding Region Coverage||
|Validation Efficiency||100% (49/49)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a mitochondrial DNA topoisomerase that plays a role in the modification of DNA topology. The encoded protein is a type IB topoisomerase and catalyzes the transient breaking and rejoining of DNA to relieve tension and DNA supercoiling generated in the mitochondrial genome during replication and transcription. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, May 2012]
PHENOTYPE: Mice homozygous for a null allele display increased oxidative stress and lipid peroxidation, enhanced glycolysis, and mitochondrial abnormalities. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Top1mt||
(F):5'- TGTGTGATTCCAAGTCCCCG -3'
(R):5'- AGGTCACTGACTTCTTCCTTGG -3'
(F):5'- GCCTCCTACAGCACTATACCCAG -3'
(R):5'- GTTGTAGTCCAGCGTACAACACTTG -3'