Incidental Mutation 'R1884:Top1mt'
ID 209389
Institutional Source Beutler Lab
Gene Symbol Top1mt
Ensembl Gene ENSMUSG00000000934
Gene Name DNA topoisomerase 1, mitochondrial
Synonyms 2900052H09Rik
MMRRC Submission 039905-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.286) question?
Stock # R1884 (G1)
Quality Score 225
Status Validated
Chromosome 15
Chromosomal Location 75528884-75550649 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 75539750 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Histidine at position 287 (R287H)
Ref Sequence ENSEMBL: ENSMUSP00000000958 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000000958]
AlphaFold Q8R4U6
Predicted Effect possibly damaging
Transcript: ENSMUST00000000958
AA Change: R287H

PolyPhen 2 Score 0.809 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000000958
Gene: ENSMUSG00000000934
AA Change: R287H

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: ENSMUST00000146755
Predicted Effect noncoding transcript
Transcript: ENSMUST00000230469
Predicted Effect noncoding transcript
Transcript: ENSMUST00000230774
Meta Mutation Damage Score 0.4172 question?
Coding Region Coverage
  • 1x: 97.3%
  • 3x: 96.7%
  • 10x: 95.1%
  • 20x: 92.3%
Validation Efficiency 99% (94/95)
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: 78 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acad11 T C 9: 103,991,684 (GRCm39) M573T probably benign Het
Ank3 A G 10: 69,851,422 (GRCm39) T1162A possibly damaging Het
Anxa2 TCCC TCC 9: 69,397,036 (GRCm39) probably null Het
Arpp21 T A 9: 111,972,595 (GRCm39) D232V probably damaging Het
Atg2a T C 19: 6,304,414 (GRCm39) Y1144H probably damaging Het
Auh G A 13: 52,989,532 (GRCm39) P308L probably benign Het
Brs3 T C X: 56,092,449 (GRCm39) I311T probably benign Het
Cenpf C T 1: 189,379,046 (GRCm39) V2915I probably benign Het
Cep170 G T 1: 176,602,245 (GRCm39) T287K probably benign Het
Chst2 G A 9: 95,287,611 (GRCm39) T245I probably damaging Het
Cnot4 C T 6: 35,055,092 (GRCm39) V66I probably damaging Het
Cntn4 A G 6: 106,656,353 (GRCm39) T885A probably benign Het
Col20a1 C T 2: 180,634,703 (GRCm39) T131I possibly damaging Het
Coro7 G T 16: 4,446,683 (GRCm39) probably benign Het
Cpne8 C A 15: 90,532,831 (GRCm39) probably benign Het
Dbnl G A 11: 5,749,247 (GRCm39) G356E probably benign Het
Ddx31 T A 2: 28,749,002 (GRCm39) I266N probably damaging Het
Dnah7a A T 1: 53,580,159 (GRCm39) I1592N probably damaging Het
Dok6 A T 18: 89,492,130 (GRCm39) L149Q probably damaging Het
Eri2 G A 7: 119,390,346 (GRCm39) T94I probably benign Het
Ermp1 A G 19: 29,594,079 (GRCm39) V697A probably benign Het
Foxc1 C T 13: 31,991,648 (GRCm39) T153M probably damaging Het
Fry A G 5: 150,326,985 (GRCm39) I1224V probably benign Het
Fzd5 G A 1: 64,774,813 (GRCm39) T316M probably damaging Het
Gcm1 G T 9: 77,966,861 (GRCm39) V27L probably benign Het
Gm5773 A T 3: 93,681,348 (GRCm39) D340V probably benign Het
Gucy2d T A 7: 98,100,815 (GRCm39) H379Q probably benign Het
Hectd1 T A 12: 51,847,738 (GRCm39) M392L probably benign Het
Itpr2 A C 6: 146,287,469 (GRCm39) D452E probably benign Het
Krtap2-4 G C 11: 99,505,505 (GRCm39) probably benign Het
Lrit1 T C 14: 36,783,710 (GRCm39) V346A possibly damaging Het
Lrrk1 A G 7: 65,912,185 (GRCm39) S1792P probably benign Het
Marveld2 A T 13: 100,737,129 (GRCm39) V168E probably benign Het
Ms4a4b T A 19: 11,438,629 (GRCm39) D149E probably damaging Het
Myom2 G A 8: 15,164,278 (GRCm39) D1058N probably benign Het
Ncam2 C T 16: 81,234,571 (GRCm39) P142L probably damaging Het
Nek9 A G 12: 85,379,330 (GRCm39) L192P probably damaging Het
Nol10 T C 12: 17,418,390 (GRCm39) probably null Het
Nrcam T C 12: 44,591,538 (GRCm39) V194A probably damaging Het
Nudt6 A G 3: 37,466,549 (GRCm39) V82A probably benign Het
Odf2l A T 3: 144,856,809 (GRCm39) N492I probably damaging Het
Or2a12 T C 6: 42,904,764 (GRCm39) S200P probably damaging Het
Or51f1d T C 7: 102,701,189 (GRCm39) I228T probably benign Het
Pkn3 T C 2: 29,972,840 (GRCm39) V276A probably damaging Het
Prl3b1 T G 13: 27,431,886 (GRCm39) L137R possibly damaging Het
Rab11fip2 A G 19: 59,925,762 (GRCm39) F10L probably damaging Het
Rab3b T A 4: 108,786,649 (GRCm39) V133E probably damaging Het
Rnf111 A T 9: 70,383,520 (GRCm39) S138T probably damaging Het
Rsf1 G A 7: 97,229,117 (GRCm39) probably benign Het
Runx1t1 A G 4: 13,835,767 (GRCm39) T75A probably benign Het
Ryr2 T G 13: 11,753,242 (GRCm39) K1693T probably damaging Het
Sdha A T 13: 74,481,255 (GRCm39) I317N probably damaging Het
Serpina1d T A 12: 103,732,037 (GRCm39) D274V possibly damaging Het
Setd2 T G 9: 110,385,486 (GRCm39) probably null Het
Sh3tc2 A G 18: 62,141,646 (GRCm39) Y1109C probably damaging Het
Sik3 C G 9: 46,132,387 (GRCm39) H1276Q probably benign Het
Slc22a2 A G 17: 12,833,713 (GRCm39) probably benign Het
Slc35f4 A T 14: 49,551,091 (GRCm39) W108R probably damaging Het
Slc4a1ap A G 5: 31,691,524 (GRCm39) E440G probably damaging Het
Slc6a4 A G 11: 76,904,201 (GRCm39) T219A probably benign Het
Stxbp5 C A 10: 9,688,042 (GRCm39) V420F possibly damaging Het
Svil T G 18: 5,094,640 (GRCm39) V1440G possibly damaging Het
Tas2r126 A T 6: 42,411,961 (GRCm39) T165S probably benign Het
Tbck T C 3: 132,430,677 (GRCm39) probably null Het
Tnxb T A 17: 34,908,539 (GRCm39) D1520E probably benign Het
Trdn A G 10: 33,133,091 (GRCm39) K314E probably benign Het
Troap T A 15: 98,975,779 (GRCm39) C233S probably benign Het
Usp28 T C 9: 48,947,247 (GRCm39) M571T probably damaging Het
Vac14 A G 8: 111,438,319 (GRCm39) H644R probably damaging Het
Vipr1 C T 9: 121,494,930 (GRCm39) P327L possibly damaging Het
Vmn1r31 C T 6: 58,449,029 (GRCm39) V279I probably damaging Het
Vmn1r69 G A 7: 10,314,678 (GRCm39) R18W probably benign Het
Vmn2r18 G T 5: 151,499,190 (GRCm39) Q425K probably benign Het
Vmn2r60 T C 7: 41,786,094 (GRCm39) V299A probably damaging Het
Vps13b A T 15: 35,430,437 (GRCm39) probably benign Het
Zfp157 A G 5: 138,443,102 (GRCm39) D31G probably damaging Het
Zfp385c A C 11: 100,521,532 (GRCm39) V176G probably benign Het
Zfp831 A G 2: 174,545,870 (GRCm39) H1325R possibly 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
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
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'- AGACACTGGTCATGGCTGTG -3'
(R):5'- TTTTCTGAGGCCAGGCTCTG -3'

Sequencing Primer
(F):5'- TCTGTGGCATACGAGCACACTC -3'
(R):5'- GCTCTGCTGCCCCCGTC -3'
Posted On 2014-06-30