Incidental Mutation 'R8713:Top1'
ID 669695
Institutional Source Beutler Lab
Gene Symbol Top1
Ensembl Gene ENSMUSG00000070544
Gene Name topoisomerase (DNA) I
Synonyms D130064I21Rik, Top-1
MMRRC Submission 068567-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R8713 (G1)
Quality Score 225.009
Status Validated
Chromosome 2
Chromosomal Location 160487901-160564684 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 160559360 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Isoleucine at position 628 (V628I)
Ref Sequence ENSEMBL: ENSMUSP00000105094 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000109468]
AlphaFold Q04750
Predicted Effect probably damaging
Transcript: ENSMUST00000109468
AA Change: V628I

PolyPhen 2 Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000105094
Gene: ENSMUSG00000070544
AA Change: V628I

DomainStartEndE-ValueType
low complexity region 20 95 N/A INTRINSIC
low complexity region 150 211 N/A INTRINSIC
Blast:TOPEUc 245 321 9e-19 BLAST
low complexity region 323 339 N/A INTRINSIC
TOPEUc 362 739 4.43e-280 SMART
Meta Mutation Damage Score 0.4697 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.3%
Validation Efficiency 100% (52/52)
MGI Phenotype 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
Total: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ablim2 C T 5: 36,030,518 (GRCm39) A581V possibly damaging Het
Adam18 T A 8: 25,142,189 (GRCm39) M196L probably benign Het
Ankrd10 A G 8: 11,678,491 (GRCm39) S134P probably damaging Het
Ano8 C T 8: 71,937,721 (GRCm39) G47D probably damaging Het
Arl6ip4 T C 5: 124,254,825 (GRCm39) V4A unknown Het
Cabp4 C T 19: 4,186,159 (GRCm39) M247I probably benign Het
Ccdc30 A T 4: 119,261,404 (GRCm39) L11Q probably damaging Het
Cdkl4 A G 17: 80,841,292 (GRCm39) S288P possibly damaging Het
Celsr3 A G 9: 108,707,062 (GRCm39) I1182V probably benign Het
Dnah17 T C 11: 117,979,028 (GRCm39) D1788G probably damaging Het
Dsp A G 13: 38,352,701 (GRCm39) D193G probably damaging Het
Dym T G 18: 75,189,809 (GRCm39) Y132* probably null Het
Dync2h1 G A 9: 7,141,008 (GRCm39) Q1340* probably null Het
Elmo1 T C 13: 20,458,791 (GRCm39) probably benign Het
Fbxw15 A C 9: 109,384,667 (GRCm39) F378V possibly damaging Het
Fsip2 G A 2: 82,811,453 (GRCm39) G2591R probably damaging Het
Gps2 C A 11: 69,806,180 (GRCm39) D148E probably benign Het
Iars2 T C 1: 185,023,615 (GRCm39) D772G possibly damaging Het
Ifit1 T A 19: 34,625,038 (GRCm39) L58Q probably benign Het
Kctd4 A T 14: 76,200,366 (GRCm39) Q112H probably benign Het
Letm1 A G 5: 33,919,849 (GRCm39) L230P probably damaging Het
Lrch4 G T 5: 137,638,125 (GRCm39) E136* probably null Het
Macc1 T C 12: 119,407,261 (GRCm39) probably benign Het
Macrod1 T C 19: 7,034,494 (GRCm39) L79P probably benign Het
Map2 T A 1: 66,453,781 (GRCm39) N890K probably damaging Het
Mctp1 G A 13: 76,789,922 (GRCm39) S270N probably benign Het
Mrpl44 C T 1: 79,755,708 (GRCm39) R105C probably damaging Het
Mtg1 T A 7: 139,717,688 (GRCm39) probably null Het
Mtg1 T C 7: 139,720,136 (GRCm39) F68L probably benign Het
Nfil3 A G 13: 53,122,047 (GRCm39) S286P possibly damaging Het
Nutm1 A G 2: 112,081,667 (GRCm39) V332A possibly damaging Het
Obscn T A 11: 59,026,792 (GRCm39) Q137L probably benign Het
Pcnx2 T G 8: 126,545,525 (GRCm39) E1162A probably damaging Het
Pgr A G 9: 8,900,818 (GRCm39) D117G possibly damaging Het
Plce1 T C 19: 38,513,345 (GRCm39) C215R probably benign Het
Rrm1 T G 7: 102,109,558 (GRCm39) Y461D probably damaging Het
Sbk3 C T 7: 4,972,991 (GRCm39) V60I possibly damaging Het
Scube1 G T 15: 83,494,471 (GRCm39) A852E possibly damaging Het
Sec24d T A 3: 123,137,541 (GRCm39) I561N probably damaging Het
Slc16a4 T C 3: 107,218,901 (GRCm39) *501Q probably null Het
Slc6a19 C A 13: 73,848,740 (GRCm39) V5L probably benign Het
Spryd3 A G 15: 102,041,920 (GRCm39) I34T possibly damaging Het
Syne1 A G 10: 5,266,040 (GRCm39) L2191P probably damaging Het
Tbrg1 A G 9: 37,563,955 (GRCm39) C227R probably damaging Het
Tdrd6 A G 17: 43,935,910 (GRCm39) S1713P probably benign Het
Thap12 C T 7: 98,356,283 (GRCm39) L57F probably benign Het
Trim67 A G 8: 125,547,074 (GRCm39) M495V probably null Het
Trio A C 15: 27,744,037 (GRCm39) probably benign Het
Vmn2r23 A T 6: 123,679,991 (GRCm39) Y71F Het
Ywhah A G 5: 33,184,535 (GRCm39) N246S probably benign Het
Zcwpw1 T C 5: 137,797,794 (GRCm39) I125T probably benign Het
Other mutations in Top1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02168:Top1 APN 2 160,546,893 (GRCm39) splice site probably null
IGL03083:Top1 APN 2 160,545,498 (GRCm39) missense probably damaging 0.97
IGL03242:Top1 APN 2 160,557,653 (GRCm39) missense probably damaging 1.00
IGL03369:Top1 APN 2 160,535,647 (GRCm39) missense unknown
Mainspring UTSW 2 160,556,158 (GRCm39) missense probably damaging 0.98
Taut UTSW 2 160,562,921 (GRCm39) missense probably damaging 0.99
unwind UTSW 2 160,546,739 (GRCm39) missense probably damaging 1.00
R0022:Top1 UTSW 2 160,544,719 (GRCm39) missense possibly damaging 0.62
R0449:Top1 UTSW 2 160,554,628 (GRCm39) nonsense probably null
R0501:Top1 UTSW 2 160,556,079 (GRCm39) missense probably damaging 1.00
R0564:Top1 UTSW 2 160,556,185 (GRCm39) missense probably damaging 0.98
R0946:Top1 UTSW 2 160,554,588 (GRCm39) nonsense probably null
R0972:Top1 UTSW 2 160,562,945 (GRCm39) missense probably damaging 1.00
R0976:Top1 UTSW 2 160,559,343 (GRCm39) missense possibly damaging 0.86
R1534:Top1 UTSW 2 160,556,152 (GRCm39) missense probably damaging 1.00
R1608:Top1 UTSW 2 160,545,515 (GRCm39) missense probably benign 0.01
R1655:Top1 UTSW 2 160,545,616 (GRCm39) critical splice donor site probably null
R1818:Top1 UTSW 2 160,557,643 (GRCm39) missense probably damaging 1.00
R1937:Top1 UTSW 2 160,512,042 (GRCm39) missense unknown
R2055:Top1 UTSW 2 160,544,748 (GRCm39) splice site probably benign
R2104:Top1 UTSW 2 160,546,739 (GRCm39) missense probably damaging 1.00
R3705:Top1 UTSW 2 160,544,744 (GRCm39) critical splice donor site probably null
R3769:Top1 UTSW 2 160,563,442 (GRCm39) missense probably damaging 1.00
R3770:Top1 UTSW 2 160,563,442 (GRCm39) missense probably damaging 1.00
R3801:Top1 UTSW 2 160,544,688 (GRCm39) missense probably damaging 1.00
R3804:Top1 UTSW 2 160,544,688 (GRCm39) missense probably damaging 1.00
R3928:Top1 UTSW 2 160,529,669 (GRCm39) splice site probably benign
R4598:Top1 UTSW 2 160,562,885 (GRCm39) missense possibly damaging 0.89
R4651:Top1 UTSW 2 160,554,637 (GRCm39) missense probably damaging 1.00
R4652:Top1 UTSW 2 160,554,637 (GRCm39) missense probably damaging 1.00
R4742:Top1 UTSW 2 160,545,490 (GRCm39) critical splice acceptor site probably null
R5523:Top1 UTSW 2 160,544,695 (GRCm39) nonsense probably null
R6292:Top1 UTSW 2 160,540,061 (GRCm39) missense probably benign 0.19
R6724:Top1 UTSW 2 160,554,616 (GRCm39) missense probably damaging 1.00
R7354:Top1 UTSW 2 160,546,878 (GRCm39) missense probably damaging 1.00
R7461:Top1 UTSW 2 160,554,762 (GRCm39) splice site probably null
R7843:Top1 UTSW 2 160,556,176 (GRCm39) missense possibly damaging 0.90
R7855:Top1 UTSW 2 160,556,008 (GRCm39) missense probably damaging 1.00
R8100:Top1 UTSW 2 160,540,155 (GRCm39) nonsense probably null
R8302:Top1 UTSW 2 160,545,496 (GRCm39) missense probably damaging 1.00
R8377:Top1 UTSW 2 160,488,009 (GRCm39) start gained probably benign
R8380:Top1 UTSW 2 160,559,315 (GRCm39) missense probably benign 0.00
R8381:Top1 UTSW 2 160,545,594 (GRCm39) missense probably null 0.77
R8392:Top1 UTSW 2 160,559,374 (GRCm39) nonsense probably null
R8773:Top1 UTSW 2 160,556,158 (GRCm39) missense probably damaging 0.98
R8844:Top1 UTSW 2 160,563,469 (GRCm39) missense probably damaging 1.00
R8949:Top1 UTSW 2 160,547,182 (GRCm39) missense possibly damaging 0.77
R8992:Top1 UTSW 2 160,562,921 (GRCm39) missense probably damaging 0.99
R9133:Top1 UTSW 2 160,545,591 (GRCm39) nonsense probably null
R9799:Top1 UTSW 2 160,563,406 (GRCm39) missense probably damaging 1.00
X0027:Top1 UTSW 2 160,563,438 (GRCm39) nonsense probably null
Predicted Primers PCR Primer
(F):5'- CTCCTGTGACAGAAACTCATTCAG -3'
(R):5'- ATCCCAGGCCATACTATGTCAG -3'

Sequencing Primer
(F):5'- ACTGCCTTTGACTCAAATGTTGAC -3'
(R):5'- GGCCATACTATGTCAGATTCCAG -3'
Posted On 2021-04-30