Incidental Mutation 'R8284:Top1mt'
ID 638398
Institutional Source Beutler Lab
Gene Symbol Top1mt
Ensembl Gene ENSMUSG00000000934
Gene Name DNA topoisomerase 1, mitochondrial
Synonyms 2900052H09Rik
MMRRC Submission 067707-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.286) question?
Stock # R8284 (G1)
Quality Score 225.009
Status Validated
Chromosome 15
Chromosomal Location 75528884-75550649 bp(-) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) T to A at 75539712 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Stop codon at position 300 (K300*)
Ref Sequence ENSEMBL: ENSMUSP00000000958 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000000958]
AlphaFold Q8R4U6
Predicted Effect probably null
Transcript: ENSMUST00000000958
AA Change: K300*
SMART Domains Protein: ENSMUSP00000000958
Gene: ENSMUSG00000000934
AA Change: K300*

DomainStartEndE-ValueType
Blast:TOPEUc 72 150 4e-38 BLAST
low complexity region 151 166 N/A INTRINSIC
TOPEUc 189 565 5.86e-230 SMART
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.6%
Validation Efficiency 100% (54/54)
MGI Phenotype 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
Total: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts14 T C 10: 61,034,438 (GRCm39) Y1147C possibly damaging Het
Adgrf5 T A 17: 43,766,161 (GRCm39) S1328T unknown Het
Aff4 A G 11: 53,295,379 (GRCm39) K860E probably damaging Het
Aox1 A C 1: 58,115,250 (GRCm39) H745P probably damaging Het
Bpifc T C 10: 85,836,413 (GRCm39) T31A probably benign Het
C3 C A 17: 57,530,938 (GRCm39) V388L probably benign Het
Celsr3 G T 9: 108,723,612 (GRCm39) M2874I probably damaging Het
Cnga4 T A 7: 105,057,239 (GRCm39) D550E probably benign Het
Dhx8 A G 11: 101,648,455 (GRCm39) T918A probably damaging Het
Dnah14 A C 1: 181,601,376 (GRCm39) E3670A probably benign Het
Fbxo31 T C 8: 122,287,181 (GRCm39) I131V probably benign Het
Ftcd T C 10: 76,413,893 (GRCm39) V99A probably benign Het
Gucy2e A G 11: 69,123,177 (GRCm39) V471A probably benign Het
H60b T A 10: 22,162,971 (GRCm39) L182Q probably benign Het
Hbp1 G A 12: 31,987,625 (GRCm39) H188Y probably damaging Het
Itga4 C T 2: 79,151,783 (GRCm39) T862I probably benign Het
Kcnmb4 T A 10: 116,254,158 (GRCm39) K206N probably damaging Het
Klra4 A G 6: 130,042,243 (GRCm39) F8S possibly damaging Het
Mrpl2 C A 17: 46,958,435 (GRCm39) Y72* probably null Het
Nars2 C A 7: 96,600,845 (GRCm39) probably benign Het
Nup214 T C 2: 31,886,458 (GRCm39) S607P possibly damaging Het
Oas1d C T 5: 121,057,221 (GRCm39) R276* probably null Het
Or12d13 C T 17: 37,647,587 (GRCm39) V179I probably benign Het
Or1l8 T A 2: 36,818,018 (GRCm39) Y36F probably damaging Het
Or2t1 T A 14: 14,329,011 (GRCm38) L300Q possibly damaging Het
Or2y1b A G 11: 49,209,002 (GRCm39) T210A probably benign Het
Pex13 A G 11: 23,605,685 (GRCm39) S182P possibly damaging Het
Piwil4 G T 9: 14,638,774 (GRCm39) N297K probably benign Het
Plxna4 T C 6: 32,129,789 (GRCm39) T1845A probably benign Het
Pml T C 9: 58,136,643 (GRCm39) N579D probably benign Het
Ppl A G 16: 4,950,201 (GRCm39) S3P probably damaging Het
Pramel16 G T 4: 143,676,695 (GRCm39) D136E possibly damaging Het
Prss54 G A 8: 96,285,994 (GRCm39) Q360* probably null Het
Ralgps2 A G 1: 156,655,718 (GRCm39) I402T probably benign Het
Rnf213 T A 11: 119,318,909 (GRCm39) D1123E Het
Sdha A T 13: 74,479,416 (GRCm39) probably null Het
Senp8 G A 9: 59,644,814 (GRCm39) T114I Het
Setx C T 2: 29,035,348 (GRCm39) T611I possibly damaging Het
Shc1 T G 3: 89,329,215 (GRCm39) S20A possibly damaging Het
Slc15a1 T C 14: 121,727,275 (GRCm39) I98V probably benign Het
Snrk A G 9: 121,989,538 (GRCm39) E294G probably damaging Het
Sox18 G A 2: 181,312,751 (GRCm39) P127S probably damaging Het
Spta1 A G 1: 174,007,387 (GRCm39) T206A probably benign Het
Tcfl5 A G 2: 180,280,330 (GRCm39) S358P probably benign Het
Tecta T A 9: 42,289,325 (GRCm39) L413F possibly damaging Het
Tlk1 T C 2: 70,544,365 (GRCm39) T757A probably benign Het
Tmem232 T A 17: 65,709,990 (GRCm39) I433F probably damaging Het
Trbv20 C T 6: 41,165,782 (GRCm39) A69V probably damaging Het
Trim12a A T 7: 103,955,282 (GRCm39) L147Q probably damaging Het
Tuba8 G A 6: 121,199,736 (GRCm39) S140N probably damaging Het
Vcan A T 13: 89,852,454 (GRCm39) N835K possibly damaging Het
Xrcc1 G A 7: 24,271,703 (GRCm39) R562H probably damaging Het
Yipf7 C T 5: 69,674,539 (GRCm39) G202D probably benign Het
Ythdc1 T G 5: 86,964,325 (GRCm39) S45A probably benign Het
Zfp1002 T C 2: 150,097,276 (GRCm39) probably benign Het
Other mutations in Top1mt
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01925:Top1mt APN 15 75,528,992 (GRCm39) missense possibly damaging 0.47
IGL02111:Top1mt APN 15 75,537,555 (GRCm39) splice site probably benign
IGL02425:Top1mt APN 15 75,547,970 (GRCm39) missense probably benign
IGL02662:Top1mt APN 15 75,540,554 (GRCm39) missense probably damaging 1.00
R1240:Top1mt UTSW 15 75,541,916 (GRCm39) missense probably damaging 0.99
R1438:Top1mt UTSW 15 75,546,247 (GRCm39) missense probably damaging 1.00
R1732:Top1mt UTSW 15 75,538,100 (GRCm39) critical splice donor site probably null
R1884:Top1mt UTSW 15 75,539,750 (GRCm39) missense possibly damaging 0.81
R3413:Top1mt UTSW 15 75,529,025 (GRCm39) missense probably benign 0.41
R3414:Top1mt UTSW 15 75,529,025 (GRCm39) missense probably benign 0.41
R4677:Top1mt UTSW 15 75,535,907 (GRCm39) missense possibly damaging 0.48
R4784:Top1mt UTSW 15 75,547,880 (GRCm39) missense possibly damaging 0.88
R4784:Top1mt UTSW 15 75,529,552 (GRCm39) missense probably damaging 1.00
R4791:Top1mt UTSW 15 75,540,474 (GRCm39) critical splice donor site probably null
R6339:Top1mt UTSW 15 75,537,505 (GRCm39) missense possibly damaging 0.72
R6723:Top1mt UTSW 15 75,539,282 (GRCm39) missense probably benign 0.01
R6732:Top1mt UTSW 15 75,541,337 (GRCm39) splice site probably null
R6841:Top1mt UTSW 15 75,547,973 (GRCm39) missense probably benign 0.00
R6884:Top1mt UTSW 15 75,535,893 (GRCm39) missense probably benign 0.37
R7024:Top1mt UTSW 15 75,539,297 (GRCm39) missense probably damaging 1.00
R7052:Top1mt UTSW 15 75,540,560 (GRCm39) missense possibly damaging 0.82
R7055:Top1mt UTSW 15 75,550,523 (GRCm39) missense probably benign 0.01
R7273:Top1mt UTSW 15 75,535,931 (GRCm39) missense probably benign 0.27
R8032:Top1mt UTSW 15 75,540,572 (GRCm39) missense probably damaging 1.00
R8510:Top1mt UTSW 15 75,541,151 (GRCm39) missense probably benign 0.02
R9469:Top1mt UTSW 15 75,539,742 (GRCm39) missense probably damaging 1.00
R9522:Top1mt UTSW 15 75,539,309 (GRCm39) missense probably damaging 1.00
R9697:Top1mt UTSW 15 75,547,874 (GRCm39) missense probably damaging 1.00
X0028:Top1mt UTSW 15 75,528,980 (GRCm39) missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- TCTGTGGCATACGAGCACAC -3'
(R):5'- GTTAAACCTGCCTGGGATGC -3'

Sequencing Primer
(F):5'- GTGGCATACGAGCACACTCATAAAAC -3'
(R):5'- CCTGAGGTGGGGAAATGTCC -3'
Posted On 2020-07-28