Incidental Mutation 'R0976:Top1'
ID 81139
Institutional Source Beutler Lab
Gene Symbol Top1
Ensembl Gene ENSMUSG00000070544
Gene Name topoisomerase (DNA) I
Synonyms D130064I21Rik, Top-1
MMRRC Submission 039105-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R0976 (G1)
Quality Score 225
Status Not validated
Chromosome 2
Chromosomal Location 160487901-160564684 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 160559343 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Serine at position 622 (N622S)
Ref Sequence ENSEMBL: ENSMUSP00000105094 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000109468]
AlphaFold Q04750
Predicted Effect possibly damaging
Transcript: ENSMUST00000109468
AA Change: N622S

PolyPhen 2 Score 0.864 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000105094
Gene: ENSMUSG00000070544
AA Change: N622S

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000150039
Coding Region Coverage
  • 1x: 99.8%
  • 3x: 99.3%
  • 10x: 97.6%
  • 20x: 95.2%
Validation Efficiency
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: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700056E22Rik C T 1: 183,765,702 (GRCm39) S119N probably benign Het
Arap2 T A 5: 62,807,227 (GRCm39) I1147F probably damaging Het
Arl10 T C 13: 54,723,621 (GRCm39) probably benign Het
Axin1 A G 17: 26,407,060 (GRCm39) E551G probably damaging Het
Ccr6 T A 17: 8,475,254 (GRCm39) L153Q probably damaging Het
Cntnap2 C T 6: 47,248,164 (GRCm39) P1190L probably damaging Het
Cul7 T A 17: 46,974,116 (GRCm39) L1467H probably damaging Het
Cux1 T A 5: 136,342,144 (GRCm39) D416V probably damaging Het
Cyp2c67 G T 19: 39,631,818 (GRCm39) F126L probably damaging Het
Cyp3a57 A G 5: 145,327,278 (GRCm39) I490V probably benign Het
Dsc1 T C 18: 20,228,098 (GRCm39) probably null Het
Fam83f T A 15: 80,576,285 (GRCm39) V312E probably damaging Het
Fsip2 A G 2: 82,828,375 (GRCm39) D6724G possibly damaging Het
Gabrr3 G T 16: 59,281,887 (GRCm39) C414F probably benign Het
Gm21738 T C 14: 19,415,963 (GRCm38) K192R probably benign Het
H2bc18 T A 3: 96,177,402 (GRCm39) V112E probably benign Het
Herc1 A T 9: 66,347,160 (GRCm39) K2005M possibly damaging Het
Isyna1 C A 8: 71,048,936 (GRCm39) N338K probably damaging Het
Kalrn T C 16: 34,205,760 (GRCm39) D39G probably damaging Het
Mndal T A 1: 173,690,411 (GRCm39) R306S possibly damaging Het
Nek2 A G 1: 191,559,349 (GRCm39) R285G probably benign Het
Nrg2 A G 18: 36,154,144 (GRCm39) I591T probably benign Het
Or8u8 A G 2: 86,012,152 (GRCm39) L101S probably damaging Het
Pcdh10 T C 3: 45,335,236 (GRCm39) S517P probably damaging Het
Pdcd2l G T 7: 33,895,771 (GRCm39) D67E probably benign Het
Pex1 C A 5: 3,683,943 (GRCm39) D1146E probably benign Het
Pid1 A T 1: 84,136,946 (GRCm39) Y62N probably benign Het
Ppp4r1 T C 17: 66,148,013 (GRCm39) *935R probably null Het
Stag1 T C 9: 100,658,877 (GRCm39) F155L probably damaging Het
Stag1 G A 9: 100,812,069 (GRCm39) probably null Het
Taok2 C T 7: 126,474,323 (GRCm39) R302Q possibly damaging Het
Tbc1d8 A G 1: 39,445,882 (GRCm39) V103A probably damaging Het
Terf2ip T A 8: 112,738,349 (GRCm39) I79N probably damaging Het
Tgfb3 G A 12: 86,116,606 (GRCm39) T144I probably damaging Het
Trappc9 T A 15: 72,871,823 (GRCm39) Q489L probably damaging Het
Vmn2r69 T C 7: 85,056,108 (GRCm39) T677A probably damaging Het
Wdr35 T C 12: 9,036,104 (GRCm39) F292L 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
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
R8713:Top1 UTSW 2 160,559,360 (GRCm39) missense probably damaging 0.98
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'- AGAGAGGCTCAGAATTCCTCCTGTG -3'
(R):5'- ACCCAGATTAGCCTGCTGTTATCCC -3'

Sequencing Primer
(F):5'- CTGTGACAGAAACTCATTCAGG -3'
(R):5'- GGCCATACTATGTCAGATTCCAG -3'
Posted On 2013-11-07