Incidental Mutation 'R1438:Top1mt'
ID 160809
Institutional Source Beutler Lab
Gene Symbol Top1mt
Ensembl Gene ENSMUSG00000000934
Gene Name DNA topoisomerase 1, mitochondrial
Synonyms 2900052H09Rik
MMRRC Submission 039493-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.286) question?
Stock # R1438 (G1)
Quality Score 161
Status Validated
Chromosome 15
Chromosomal Location 75528884-75550649 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 75546247 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 78 (L78P)
Ref Sequence ENSEMBL: ENSMUSP00000000958 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000000958]
AlphaFold Q8R4U6
Predicted Effect probably damaging
Transcript: ENSMUST00000000958
AA Change: L78P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000000958
Gene: ENSMUSG00000000934
AA Change: L78P

DomainStartEndE-ValueType
Blast:TOPEUc 72 150 4e-38 BLAST
low complexity region 151 166 N/A INTRINSIC
TOPEUc 189 565 5.86e-230 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000230469
Meta Mutation Damage Score 0.6467 question?
Coding Region Coverage
  • 1x: 98.9%
  • 3x: 97.9%
  • 10x: 94.7%
  • 20x: 87.3%
Validation Efficiency 99% (80/81)
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: 77 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actl6b A T 5: 137,552,871 (GRCm39) I67F probably damaging Het
Adam24 A T 8: 41,134,431 (GRCm39) N633I probably benign Het
Adgrg6 T C 10: 14,344,585 (GRCm39) S123G possibly damaging Het
Afdn T A 17: 14,075,652 (GRCm39) F940L probably damaging Het
Ahrr A T 13: 74,372,987 (GRCm39) Y26* probably null Het
Akap1 C A 11: 88,735,577 (GRCm39) G362* probably null Het
Aox3 A T 1: 58,192,337 (GRCm39) T536S probably benign Het
Boc A T 16: 44,309,109 (GRCm39) probably null Het
Cchcr1 T C 17: 35,841,457 (GRCm39) probably null Het
Cct2 A T 10: 116,890,897 (GRCm39) probably benign Het
Cd84 A T 1: 171,679,685 (GRCm39) Y121F probably damaging Het
Cecr2 T A 6: 120,738,433 (GRCm39) C275* probably null Het
Chchd3 C A 6: 32,985,503 (GRCm39) probably benign Het
Ckmt2 A T 13: 92,007,971 (GRCm39) probably benign Het
Col5a3 T C 9: 20,691,253 (GRCm39) K1131E probably damaging Het
Dek A T 13: 47,241,647 (GRCm39) S306T probably benign Het
Dhx32 T C 7: 133,339,069 (GRCm39) E322G possibly damaging Het
Dlg5 T A 14: 24,204,673 (GRCm39) D941V possibly damaging Het
Dnah10 A G 5: 124,876,009 (GRCm39) N2559S probably benign Het
Dnajc3 A G 14: 119,205,518 (GRCm39) T171A probably benign Het
Eftud2 G T 11: 102,750,868 (GRCm39) F308L probably damaging Het
Elp6 T C 9: 110,143,123 (GRCm39) F95S probably damaging Het
Emsy C T 7: 98,270,613 (GRCm39) V450I possibly damaging Het
Exoc3 A T 13: 74,338,298 (GRCm39) M362K probably damaging Het
Fat2 A T 11: 55,178,637 (GRCm39) D1474E probably damaging Het
Fcgbp T A 7: 27,803,158 (GRCm39) C1587* probably null Het
Fosl2 T A 5: 32,304,329 (GRCm39) L88Q probably damaging Het
Fsd2 T C 7: 81,198,621 (GRCm39) D381G probably benign Het
Golim4 A C 3: 75,863,440 (GRCm39) S56A probably damaging Het
Gpr39 T C 1: 125,800,093 (GRCm39) probably benign Het
Gucy1b2 T C 14: 62,651,770 (GRCm39) I409V probably damaging Het
Hivep1 A G 13: 42,311,596 (GRCm39) T1279A probably benign Het
Ifit1bl2 T A 19: 34,596,569 (GRCm39) Q349L possibly damaging Het
Kcnc1 A T 7: 46,077,691 (GRCm39) I498F possibly damaging Het
Kctd21 T A 7: 96,996,704 (GRCm39) I59N probably damaging Het
Lama5 T A 2: 179,824,593 (GRCm39) T2577S probably benign Het
Mief2 G T 11: 60,621,140 (GRCm39) R9M possibly damaging Het
Mmp3 T C 9: 7,453,705 (GRCm39) V442A probably benign Het
Nkapd1 C A 9: 50,518,972 (GRCm39) K213N possibly damaging Het
Nrxn3 C T 12: 90,298,909 (GRCm39) R477W probably damaging Het
Or12e7 A G 2: 87,288,336 (GRCm39) T276A probably benign Het
Or7a41 T A 10: 78,871,122 (GRCm39) V164E possibly damaging Het
Parp1 A G 1: 180,418,807 (GRCm39) T656A probably benign Het
Pcdhb19 A G 18: 37,631,015 (GRCm39) D270G probably damaging Het
Phlpp1 A G 1: 106,101,142 (GRCm39) D470G possibly damaging Het
Prdm1 T C 10: 44,318,124 (GRCm39) E248G probably benign Het
Prtg C T 9: 72,818,032 (GRCm39) probably benign Het
Ptpn1 T C 2: 167,818,529 (GRCm39) Y424H probably damaging Het
Ptprr T C 10: 116,092,109 (GRCm39) V369A probably damaging Het
Rai1 T G 11: 60,076,221 (GRCm39) V95G probably benign Het
Rasal3 T A 17: 32,612,509 (GRCm39) probably null Het
Rbm19 A G 5: 120,260,961 (GRCm39) E195G probably benign Het
Rhbdd3 T A 11: 5,053,332 (GRCm39) L44Q probably damaging Het
Ripply2 T C 9: 86,901,713 (GRCm39) W80R probably damaging Het
Rnf183 A G 4: 62,346,760 (GRCm39) C13R probably damaging Het
Rorb A G 19: 18,932,417 (GRCm39) L367P probably damaging Het
Rpl7a-ps5 C T 17: 58,146,135 (GRCm39) probably benign Het
Rreb1 A G 13: 38,114,581 (GRCm39) N647D probably benign Het
Rtn1 A T 12: 72,351,187 (GRCm39) S341T probably damaging Het
Ryr3 T C 2: 112,588,046 (GRCm39) S2632G probably benign Het
Scube1 A G 15: 83,499,227 (GRCm39) C633R possibly damaging Het
Sdk1 A T 5: 142,024,078 (GRCm39) I723F probably damaging Het
Sec23a A T 12: 59,048,796 (GRCm39) C109S probably damaging Het
Septin11 T C 5: 93,296,287 (GRCm39) F60L probably damaging Het
Sgf29 G A 7: 126,271,063 (GRCm39) probably null Het
Skint5 A G 4: 113,413,308 (GRCm39) probably benign Het
Smo G A 6: 29,755,482 (GRCm39) V385I possibly damaging Het
Tada2a G A 11: 84,000,837 (GRCm39) T76I probably damaging Het
Tas2r118 T A 6: 23,969,422 (GRCm39) H213L possibly damaging Het
Thoc5 A T 11: 4,861,427 (GRCm39) probably benign Het
Tmem33 T A 5: 67,424,634 (GRCm39) probably null Het
Uvssa T A 5: 33,571,228 (GRCm39) probably benign Het
Vmn2r50 A T 7: 9,784,062 (GRCm39) C137* probably null Het
Vmn2r81 A G 10: 79,129,691 (GRCm39) T861A probably benign Het
Wnt3 A T 11: 103,699,077 (GRCm39) N61I probably damaging Het
Zswim9 A G 7: 13,011,144 (GRCm39) I68T possibly damaging Het
Zzef1 T C 11: 72,803,771 (GRCm39) I2535T probably damaging 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
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
R8284:Top1mt UTSW 15 75,539,712 (GRCm39) nonsense probably null
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'- GTGAAGATCAGACCAGGCTCACAC -3'
(R):5'- CTGGCACTGTTACAAACCCCAGAG -3'

Sequencing Primer
(F):5'- CCAGGCTACTATCTTGGATGCAG -3'
(R):5'- TTACAAACCCCAGAGTGGTGTTC -3'
Posted On 2014-03-14