Incidental Mutation 'R9683:Top2a'
ID 728702
Institutional Source Beutler Lab
Gene Symbol Top2a
Ensembl Gene ENSMUSG00000020914
Gene Name topoisomerase (DNA) II alpha
Synonyms DNA Topoisomerase II alpha, Top-2
MMRRC Submission
Accession Numbers
Essential gene? Probably essential (E-score: 0.970) question?
Stock # R9683 (G1)
Quality Score 225.009
Status Not validated
Chromosome 11
Chromosomal Location 98883769-98915015 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 98887683 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Isoleucine at position 1275 (T1275I)
Ref Sequence ENSEMBL: ENSMUSP00000068896 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000068031]
AlphaFold Q01320
Predicted Effect probably benign
Transcript: ENSMUST00000068031
AA Change: T1275I

PolyPhen 2 Score 0.210 (Sensitivity: 0.92; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000068896
Gene: ENSMUSG00000020914
AA Change: T1275I

DomainStartEndE-ValueType
low complexity region 10 21 N/A INTRINSIC
Blast:TOP2c 22 60 3e-12 BLAST
HATPase_c 75 224 1.81e-2 SMART
TOP2c 79 669 N/A SMART
TOP4c 692 1166 3.58e-234 SMART
low complexity region 1192 1202 N/A INTRINSIC
low complexity region 1226 1238 N/A INTRINSIC
low complexity region 1261 1273 N/A INTRINSIC
low complexity region 1291 1306 N/A INTRINSIC
low complexity region 1407 1418 N/A INTRINSIC
Pfam:DTHCT 1425 1518 1.1e-18 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.1%
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 nuclear enzyme is involved in processes such as chromosome condensation, chromatid separation, and the relief of torsional stress that occurs during DNA transcription and replication. It catalyzes the transient breaking and rejoining of two strands of duplex DNA which allows the strands to pass through one another, thus altering the topology of DNA. Two forms of this enzyme exist as likely products of a gene duplication event. The gene encoding this form, alpha, is localized to chromosome 17 and the beta gene is localized to chromosome 3. The gene encoding this enzyme functions as the target for several anticancer agents and a variety of mutations in this gene have been associated with the development of drug resistance. Reduced activity of this enzyme may also play a role in ataxia-telangiectasia. [provided by RefSeq, Jul 2010]
Allele List at MGI

All alleles(47) : Targeted(1) Gene trapped(46)

Other mutations in this stock
Total: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700006A11Rik C T 3: 124,200,095 (GRCm39) G499D probably benign Het
Acr T A 15: 89,457,440 (GRCm39) Y229* probably null Het
Adam6b G T 12: 113,454,176 (GRCm39) C331F probably benign Het
Ahnak T C 19: 8,984,719 (GRCm39) V2001A possibly damaging Het
Ankrd11 C T 8: 123,617,682 (GRCm39) A2057T probably benign Het
Anln A T 9: 22,283,536 (GRCm39) C432* probably null Het
Aox4 T C 1: 58,278,462 (GRCm39) probably null Het
Astn1 A G 1: 158,491,619 (GRCm39) I1007V possibly damaging Het
Bicral T C 17: 47,122,944 (GRCm39) D649G possibly damaging Het
C1qbp G A 11: 70,873,749 (GRCm39) R10C probably damaging Het
Cass4 C T 2: 172,268,656 (GRCm39) P246L probably damaging Het
Celsr3 T A 9: 108,704,522 (GRCm39) V335E probably damaging Het
Cfap52 T A 11: 67,822,639 (GRCm39) T411S probably benign Het
Cnot6 A T 11: 49,580,164 (GRCm39) L43I possibly damaging Het
Col9a3 G A 2: 180,248,322 (GRCm39) probably null Het
Dnah14 A G 1: 181,426,509 (GRCm39) R210G probably benign Het
Fat4 A G 3: 38,943,332 (GRCm39) S742G possibly damaging Het
Fbn2 C T 18: 58,186,099 (GRCm39) V1750M probably benign Het
Glrx2 A G 1: 143,622,292 (GRCm39) D96G probably damaging Het
Gm8369 T C 19: 11,489,097 (GRCm39) L128P probably damaging Het
Gpr155 A G 2: 73,192,780 (GRCm39) I585T probably benign Het
Heatr1 T C 13: 12,449,140 (GRCm39) S1907P probably damaging Het
Hscb T C 5: 110,983,881 (GRCm39) T129A possibly damaging Het
Itgb5 T A 16: 33,740,335 (GRCm39) Y482N probably damaging Het
Kmt5b T A 19: 3,865,587 (GRCm39) *884R probably null Het
L3mbtl1 A T 2: 162,812,228 (GRCm39) T758S possibly damaging Het
Mindy1 A T 3: 95,202,176 (GRCm39) H351L probably benign Het
Mmel1 A T 4: 154,977,285 (GRCm39) I552F probably damaging Het
Mos T C 4: 3,871,186 (GRCm39) D210G probably benign Het
Npl A C 1: 153,421,030 (GRCm39) I16S possibly damaging Het
Nutm2 C A 13: 50,629,017 (GRCm39) P694T possibly damaging Het
Or1e1c G A 11: 73,265,811 (GRCm39) V82I probably damaging Het
Or52ae7 A G 7: 103,119,157 (GRCm39) probably benign Het
Plekhg4 T C 8: 106,102,923 (GRCm39) F261L probably benign Het
Ppfia3 T A 7: 45,005,999 (GRCm39) N331I probably benign Het
Ppp1r12a T A 10: 108,096,747 (GRCm39) S712R possibly damaging Het
Psg20 T A 7: 18,416,508 (GRCm39) K203* probably null Het
Recql C T 6: 142,305,646 (GRCm39) R234Q Het
Rerg A G 6: 137,033,252 (GRCm39) F160S probably damaging Het
Rp1l1 A G 14: 64,269,126 (GRCm39) K1571E probably damaging Het
Rsrc1 T A 3: 67,257,328 (GRCm39) S247T probably damaging Het
Sacs T A 14: 61,450,881 (GRCm39) I4309N possibly damaging Het
Setd7 A T 3: 51,450,111 (GRCm39) I105N possibly damaging Het
Sgk1 AAGA AAGAGA 10: 21,868,290 (GRCm39) probably null Het
Siglec1 T A 2: 130,921,236 (GRCm39) H645L probably damaging Het
Slain1 A T 14: 103,925,621 (GRCm39) D323V probably damaging Het
Slc25a10 A G 11: 120,386,312 (GRCm39) N139D probably damaging Het
Slc9a9 T G 9: 94,552,235 (GRCm39) F41V probably damaging Het
Spag9 A C 11: 93,988,568 (GRCm39) E879D probably damaging Het
Tdrd7 T A 4: 46,025,946 (GRCm39) L922Q probably damaging Het
Tiprl A G 1: 165,050,147 (GRCm39) F156S probably damaging Het
Tmem185b G C 1: 119,454,748 (GRCm39) V170L probably damaging Het
Tpp1 A G 7: 105,398,104 (GRCm39) L353P probably damaging Het
Twnk T A 19: 44,998,622 (GRCm39) H513Q probably damaging Het
Ubr5 C T 15: 37,978,271 (GRCm39) V2467I Het
Vmn2r16 T A 5: 109,511,677 (GRCm39) I628N probably damaging Het
Zan T C 5: 137,462,776 (GRCm39) E801G unknown Het
Zfp810 T C 9: 22,189,799 (GRCm39) R370G possibly damaging Het
Zfp955a A G 17: 33,461,587 (GRCm39) S182P probably benign Het
Znrf3 T C 11: 5,394,465 (GRCm39) T72A possibly damaging Het
Other mutations in Top2a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00518:Top2a APN 11 98,909,647 (GRCm39) nonsense probably null
IGL01285:Top2a APN 11 98,896,985 (GRCm39) splice site probably benign
IGL01445:Top2a APN 11 98,901,856 (GRCm39) missense probably damaging 1.00
IGL01451:Top2a APN 11 98,901,856 (GRCm39) missense probably damaging 1.00
IGL01456:Top2a APN 11 98,901,856 (GRCm39) missense probably damaging 1.00
IGL01458:Top2a APN 11 98,901,856 (GRCm39) missense probably damaging 1.00
IGL01481:Top2a APN 11 98,901,856 (GRCm39) missense probably damaging 1.00
IGL01485:Top2a APN 11 98,901,856 (GRCm39) missense probably damaging 1.00
IGL01753:Top2a APN 11 98,898,100 (GRCm39) missense probably damaging 0.97
IGL03029:Top2a APN 11 98,909,625 (GRCm39) missense probably benign 0.03
PIT4581001:Top2a UTSW 11 98,893,790 (GRCm39) missense probably damaging 0.97
PIT4585001:Top2a UTSW 11 98,892,199 (GRCm39) missense probably benign 0.02
R0008:Top2a UTSW 11 98,893,729 (GRCm39) nonsense probably null
R0047:Top2a UTSW 11 98,888,682 (GRCm39) missense probably benign
R0047:Top2a UTSW 11 98,888,682 (GRCm39) missense probably benign
R0070:Top2a UTSW 11 98,905,886 (GRCm39) critical splice acceptor site probably null
R0070:Top2a UTSW 11 98,905,886 (GRCm39) critical splice acceptor site probably null
R0116:Top2a UTSW 11 98,894,416 (GRCm39) missense probably benign 0.00
R0245:Top2a UTSW 11 98,900,922 (GRCm39) missense probably benign 0.37
R0276:Top2a UTSW 11 98,900,733 (GRCm39) splice site probably benign
R0288:Top2a UTSW 11 98,907,249 (GRCm39) splice site probably benign
R0335:Top2a UTSW 11 98,913,781 (GRCm39) missense probably benign 0.08
R0422:Top2a UTSW 11 98,900,679 (GRCm39) missense probably damaging 1.00
R0546:Top2a UTSW 11 98,890,052 (GRCm39) missense possibly damaging 0.75
R0558:Top2a UTSW 11 98,887,665 (GRCm39) missense probably benign
R0599:Top2a UTSW 11 98,892,243 (GRCm39) missense probably damaging 0.99
R0727:Top2a UTSW 11 98,902,974 (GRCm39) nonsense probably null
R1565:Top2a UTSW 11 98,891,880 (GRCm39) missense probably damaging 0.99
R1674:Top2a UTSW 11 98,900,099 (GRCm39) missense probably damaging 0.96
R1844:Top2a UTSW 11 98,906,895 (GRCm39) missense probably benign 0.06
R1959:Top2a UTSW 11 98,886,803 (GRCm39) splice site probably null
R2124:Top2a UTSW 11 98,895,054 (GRCm39) missense probably benign 0.00
R2128:Top2a UTSW 11 98,900,633 (GRCm39) missense probably damaging 0.97
R3707:Top2a UTSW 11 98,887,651 (GRCm39) missense probably benign 0.13
R4110:Top2a UTSW 11 98,913,786 (GRCm39) missense probably damaging 1.00
R4112:Top2a UTSW 11 98,913,786 (GRCm39) missense probably damaging 1.00
R4423:Top2a UTSW 11 98,892,231 (GRCm39) missense probably benign 0.00
R4425:Top2a UTSW 11 98,892,231 (GRCm39) missense probably benign 0.00
R4914:Top2a UTSW 11 98,893,786 (GRCm39) missense probably damaging 1.00
R4939:Top2a UTSW 11 98,900,918 (GRCm39) missense probably damaging 1.00
R4944:Top2a UTSW 11 98,888,676 (GRCm39) missense probably benign 0.37
R4971:Top2a UTSW 11 98,884,667 (GRCm39) missense probably damaging 1.00
R5362:Top2a UTSW 11 98,909,738 (GRCm39) missense probably damaging 1.00
R5477:Top2a UTSW 11 98,907,306 (GRCm39) nonsense probably null
R5499:Top2a UTSW 11 98,913,202 (GRCm39) missense probably benign 0.20
R5911:Top2a UTSW 11 98,907,291 (GRCm39) missense possibly damaging 0.92
R7126:Top2a UTSW 11 98,905,818 (GRCm39) missense probably benign 0.09
R7131:Top2a UTSW 11 98,895,008 (GRCm39) missense possibly damaging 0.75
R7174:Top2a UTSW 11 98,914,922 (GRCm39) start gained probably benign
R7329:Top2a UTSW 11 98,895,072 (GRCm39) missense possibly damaging 0.57
R7560:Top2a UTSW 11 98,891,663 (GRCm39) missense probably benign
R7563:Top2a UTSW 11 98,907,005 (GRCm39) missense probably damaging 1.00
R7740:Top2a UTSW 11 98,884,640 (GRCm39) missense probably benign 0.34
R7841:Top2a UTSW 11 98,913,176 (GRCm39) missense probably damaging 1.00
R7894:Top2a UTSW 11 98,900,431 (GRCm39) missense probably damaging 1.00
R8122:Top2a UTSW 11 98,889,993 (GRCm39) missense probably benign
R8260:Top2a UTSW 11 98,891,595 (GRCm39) missense probably null 0.87
R8504:Top2a UTSW 11 98,905,567 (GRCm39) missense probably benign
R8550:Top2a UTSW 11 98,886,744 (GRCm39) missense probably benign
R8558:Top2a UTSW 11 98,912,549 (GRCm39) missense probably damaging 1.00
R8693:Top2a UTSW 11 98,900,868 (GRCm39) missense probably damaging 1.00
R8851:Top2a UTSW 11 98,900,677 (GRCm39) missense probably damaging 1.00
R9143:Top2a UTSW 11 98,900,705 (GRCm39) missense probably benign 0.14
R9240:Top2a UTSW 11 98,901,368 (GRCm39) nonsense probably null
R9294:Top2a UTSW 11 98,891,904 (GRCm39) missense probably benign 0.00
R9301:Top2a UTSW 11 98,897,790 (GRCm39) missense probably damaging 0.99
R9383:Top2a UTSW 11 98,901,884 (GRCm39) nonsense probably null
R9450:Top2a UTSW 11 98,894,434 (GRCm39) missense possibly damaging 0.73
R9515:Top2a UTSW 11 98,902,970 (GRCm39) missense probably damaging 0.99
R9655:Top2a UTSW 11 98,905,334 (GRCm39) missense probably damaging 1.00
R9689:Top2a UTSW 11 98,914,883 (GRCm39) missense probably benign 0.01
U24488:Top2a UTSW 11 98,913,252 (GRCm39) missense probably damaging 1.00
X0025:Top2a UTSW 11 98,886,767 (GRCm39) missense probably benign 0.32
Predicted Primers PCR Primer
(F):5'- ATCTTAAAGCCCGCTACCCG -3'
(R):5'- CCCATTACAGTGTGTGAGGAATG -3'

Sequencing Primer
(F):5'- CCCGCTACCCGCTACCC -3'
(R):5'- TGCAGGACCTTGCCATTAAG -3'
Posted On 2022-10-06