Incidental Mutation 'R7055:Top1mt'
ID547882
Institutional Source Beutler Lab
Gene Symbol Top1mt
Ensembl Gene ENSMUSG00000000934
Gene NameDNA topoisomerase 1, mitochondrial
Synonyms
MMRRC Submission
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.298) question?
Stock #R7055 (G1)
Quality Score225.009
Status Not validated
Chromosome15
Chromosomal Location75657035-75678800 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 75678674 bp
ZygosityHeterozygous
Amino Acid Change Valine to Alanine at position 28 (V28A)
Ref Sequence ENSEMBL: ENSMUSP00000000958 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000000958]
Predicted Effect probably benign
Transcript: ENSMUST00000000958
AA Change: V28A

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)
SMART Domains Protein: ENSMUSP00000000958
Gene: ENSMUSG00000000934
AA Change: V28A

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: 100.0%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency
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: 76 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700113H08Rik T C 10: 87,226,221 S178P probably damaging Het
2610008E11Rik C T 10: 79,067,847 E212K probably damaging Het
Abcc4 A T 14: 118,594,785 L736* probably null Het
Acmsd A T 1: 127,753,833 M178L probably benign Het
Adpgk T A 9: 59,313,193 M266K possibly damaging Het
Aldh1b1 G A 4: 45,802,909 R149H possibly damaging Het
Aox2 A G 1: 58,299,768 T307A probably benign Het
C1galt1 T C 6: 7,866,585 Y144H probably damaging Het
Cabin1 G C 10: 75,743,283 Q440E probably benign Het
Casq2 A G 3: 102,142,245 S231G probably damaging Het
Catsper2 TAGGATGGCTTTTCTCAGGATAGCTTTTCTCAGGATGGCTTTTCTCAGGATAGCTTTTCTCAGGATGGCTTTTCTCAGGATAGCTTTTCT TAGGATGGCTTTTCTCAGGATAGCTTTTCTCAGGATGGCTTTTCTCAGGATAGCTTTTCT 2: 121,397,572 probably benign Het
Cdan1 A G 2: 120,727,861 I490T probably damaging Het
Cep170b T A 12: 112,735,715 V314E probably damaging Het
Col4a4 T C 1: 82,519,036 E413G unknown Het
Cyp3a25 A C 5: 145,992,991 F189L probably benign Het
Dido1 T A 2: 180,661,209 H1634L probably benign Het
Dnaja2 A C 8: 85,548,674 V156G probably benign Het
Dpy19l4 T C 4: 11,290,291 probably null Het
Eomes A T 9: 118,480,499 N240I possibly damaging Het
Fads6 A G 11: 115,285,403 F199L probably benign Het
Fbrs T C 7: 127,487,784 probably null Het
Fndc4 T C 5: 31,294,178 E153G probably benign Het
Fv1 TTCTCTCTCTCTCTC TTCTCTCTCTCTCTCTC 4: 147,870,318 probably null Het
Fzr1 T C 10: 81,370,223 Y210C probably damaging Het
Gjc2 T A 11: 59,177,030 M209L unknown Het
Gpr33 A G 12: 52,024,253 M1T probably null Het
Gtf2a1 A T 12: 91,586,749 I28N possibly damaging Het
Igf2r A C 17: 12,704,323 Y1200D probably damaging Het
Ivd C T 2: 118,873,249 T212I probably damaging Het
Jag1 A G 2: 137,115,489 V101A probably benign Het
Kansl3 A T 1: 36,365,620 V83D possibly damaging Het
Krt81 T A 15: 101,461,125 I249F probably benign Het
Krtap21-1 G A 16: 89,403,703 S17L unknown Het
Macf1 A T 4: 123,409,196 H504Q probably benign Het
Map2 A G 1: 66,416,824 T1499A probably damaging Het
Map3k9 T C 12: 81,724,208 T892A probably damaging Het
Mcl1 G A 3: 95,659,799 V178I probably benign Het
Mrs2 T A 13: 25,004,954 M126L probably benign Het
Msantd1 C A 5: 34,917,661 N9K probably benign Het
Myh9 C T 15: 77,775,198 R116H probably damaging Het
Nfib A T 4: 82,330,425 D308E probably benign Het
Nme2 T A 11: 93,955,590 I11F probably damaging Het
Nmnat3 A G 9: 98,410,233 D111G probably benign Het
Olfr1164 T A 2: 88,093,701 L78F probably damaging Het
Papss2 T C 19: 32,664,427 W501R probably damaging Het
Parn A G 16: 13,626,134 I384T possibly damaging Het
Pcdhb18 A G 18: 37,490,811 D398G possibly damaging Het
Pdcl2 T C 5: 76,317,924 N102D probably benign Het
Pdzrn3 C A 6: 101,151,774 E644* probably null Het
Pi4ka T A 16: 17,317,015 probably benign Het
Polg2 A G 11: 106,777,214 F216L probably damaging Het
Prkcsh A G 9: 22,013,161 *522W probably null Het
Prkcz G T 4: 155,289,634 D108E probably benign Het
Pros1 T C 16: 62,928,102 V646A possibly damaging Het
Ptprc A G 1: 138,089,571 I483T probably damaging Het
Rabep2 T C 7: 126,445,313 I527T possibly damaging Het
Rad50 T C 11: 53,688,102 K543R probably benign Het
Samd4b A G 7: 28,404,033 I553T probably benign Het
Sbpl A T 17: 23,953,302 N214K unknown Het
Scgb2b11 C T 7: 32,210,482 E60K possibly damaging Het
Sgk3 G A 1: 9,886,059 E331K probably damaging Het
Snx6 A T 12: 54,784,079 L32Q probably damaging Het
Srgap3 T A 6: 112,746,963 Q512L probably damaging Het
Srsf12 A G 4: 33,226,157 D135G probably damaging Het
Steap4 A G 5: 7,976,858 T274A probably damaging Het
Svep1 A T 4: 58,064,275 V3236D probably benign Het
Svep1 A T 4: 58,120,642 F797Y probably benign Het
Tmem116 T C 5: 121,467,924 L113P probably damaging Het
Tnfrsf1b A G 4: 145,224,887 V161A probably damaging Het
Tnpo1 G T 13: 98,855,479 Q622K possibly damaging Het
Trim25 T C 11: 88,999,924 S146P probably benign Het
Tuba3b A G 6: 145,621,209 D392G possibly damaging Het
Utrn C T 10: 12,747,921 R191Q probably benign Het
Vmn2r111 T C 17: 22,559,051 N549S possibly damaging Het
Wdfy2 T A 14: 62,900,299 S84T probably benign Het
Zfp873 T A 10: 82,059,998 F225I probably damaging Het
Other mutations in Top1mt
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01925:Top1mt APN 15 75657143 missense possibly damaging 0.47
IGL02111:Top1mt APN 15 75665706 splice site probably benign
IGL02425:Top1mt APN 15 75676121 missense probably benign
IGL02662:Top1mt APN 15 75668705 missense probably damaging 1.00
R1240:Top1mt UTSW 15 75670067 missense probably damaging 0.99
R1438:Top1mt UTSW 15 75674398 missense probably damaging 1.00
R1732:Top1mt UTSW 15 75666251 critical splice donor site probably null
R1884:Top1mt UTSW 15 75667901 missense possibly damaging 0.81
R3413:Top1mt UTSW 15 75657176 missense probably benign 0.41
R3414:Top1mt UTSW 15 75657176 missense probably benign 0.41
R4677:Top1mt UTSW 15 75664058 missense possibly damaging 0.48
R4784:Top1mt UTSW 15 75657703 missense probably damaging 1.00
R4784:Top1mt UTSW 15 75676031 missense possibly damaging 0.88
R4791:Top1mt UTSW 15 75668625 critical splice donor site probably null
R6339:Top1mt UTSW 15 75665656 missense possibly damaging 0.72
R6723:Top1mt UTSW 15 75667433 missense probably benign 0.01
R6732:Top1mt UTSW 15 75669488 splice site probably null
R6841:Top1mt UTSW 15 75676124 missense probably benign 0.00
R6884:Top1mt UTSW 15 75664044 missense probably benign 0.37
R7024:Top1mt UTSW 15 75667448 missense probably damaging 1.00
R7052:Top1mt UTSW 15 75668711 missense possibly damaging 0.82
R7273:Top1mt UTSW 15 75664082 missense probably benign 0.27
R8032:Top1mt UTSW 15 75668723 missense probably damaging 1.00
X0028:Top1mt UTSW 15 75657131 missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- CCAATCAGGGAATCTGGGAAC -3'
(R):5'- ATGACTTCCTCAGGTTGCCATG -3'

Sequencing Primer
(F):5'- GGAACCACACTCCAAAGGG -3'
(R):5'- CCATGGCAGGTAGAAGCGC -3'
Posted On2019-05-13