|Institutional Source||Beutler Lab|
|Gene Name||topoisomerase (DNA) I|
|Is this an essential gene?||Essential (E-score: 1.000)|
|Stock #||R0564 (G1)|
|Chromosomal Location||160645888-160722764 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||G to A at 160714265 bp|
|Amino Acid Change||Arginine to Glutamine at position 548 (R548Q)|
|Ref Sequence||ENSEMBL: ENSMUSP00000105094 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000109468]|
|Predicted Effect||probably damaging
AA Change: R548Q
PolyPhen 2 Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)
AA Change: R548Q
|Predicted Effect||noncoding transcript
|Meta Mutation Damage Score||0.228|
|Coding Region Coverage||
|Validation Efficiency||98% (52/53)|
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 enzyme catalyzes the transient breaking and rejoining of a single strand of DNA which allows the strands to pass through one another, thus altering the topology of DNA. This gene is localized to chromosome 20 and has pseudogenes which reside on chromosomes 1 and 22. [provided by RefSeq, Jul 2008]
PHENOTYPE: A homozygous mutation resulted in early embryonic lethality at the 4 to 16 cell stage of development. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Top1||
(F):5'- TGACTGACCTACCTACCTACCTACCTAC -3'
(R):5'- GCATGAAATGAGGCACACCATATACCAA -3'
(F):5'- gctgagccatctctctagcc -3'
(R):5'- AGGCACACCATATACCAAATATTATC -3'