Incidental Mutation 'R1674:Top2a'
ID 187929
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 039710-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.970) question?
Stock # R1674 (G1)
Quality Score 225
Status Validated
Chromosome 11
Chromosomal Location 98883769-98915015 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 98900099 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Tyrosine at position 667 (F667Y)
Ref Sequence ENSEMBL: ENSMUSP00000068896 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000068031]
AlphaFold Q01320
Predicted Effect probably damaging
Transcript: ENSMUST00000068031
AA Change: F667Y

PolyPhen 2 Score 0.959 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000068896
Gene: ENSMUSG00000020914
AA Change: F667Y

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000144318
Meta Mutation Damage Score 0.0829 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.8%
  • 20x: 94.1%
Validation Efficiency 100% (91/91)
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: 89 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930579G24Rik A G 3: 79,538,451 (GRCm39) T66A probably benign Het
5430401F13Rik A T 6: 131,529,766 (GRCm39) Q120L unknown Het
Akirin1 A G 4: 123,637,256 (GRCm39) S110P possibly damaging Het
Ankmy2 T A 12: 36,237,668 (GRCm39) S256T probably benign Het
Areg T C 5: 91,291,485 (GRCm39) F143L probably damaging Het
Arhgap42 A G 9: 9,006,585 (GRCm39) S604P probably damaging Het
Arid1a A G 4: 133,416,571 (GRCm39) V1068A unknown Het
Arid4a G A 12: 71,122,112 (GRCm39) S509N probably benign Het
Atoh1 T G 6: 64,706,914 (GRCm39) I203S possibly damaging Het
Atp5mg T C 9: 44,825,957 (GRCm39) T69A possibly damaging Het
Baz1b A G 5: 135,233,965 (GRCm39) E164G probably damaging Het
Baz2b A T 2: 59,743,336 (GRCm39) V1545E possibly damaging Het
Best1 A G 19: 9,970,590 (GRCm39) probably null Het
Casp8 T A 1: 58,883,575 (GRCm39) I314N probably damaging Het
Ccdc13 T C 9: 121,638,208 (GRCm39) T26A probably damaging Het
Ccr6 A T 17: 8,475,049 (GRCm39) I85L probably damaging Het
Cdh10 A T 15: 18,985,152 (GRCm39) N272I probably benign Het
Cdh10 T A 15: 19,013,416 (GRCm39) I672K probably damaging Het
Cdk17 A T 10: 93,057,492 (GRCm39) E163V probably benign Het
Chsy1 T C 7: 65,821,411 (GRCm39) F549L probably damaging Het
CN725425 T C 15: 91,131,124 (GRCm39) Y420H possibly damaging Het
Cpt1b A T 15: 89,306,535 (GRCm39) M281K possibly damaging Het
Crlf2 A G 5: 109,706,669 (GRCm39) probably null Het
Ctif T C 18: 75,770,251 (GRCm39) T45A probably benign Het
Ddx31 T C 2: 28,748,828 (GRCm39) F252S probably damaging Het
Dennd2d T C 3: 106,399,833 (GRCm39) I242T probably benign Het
Dennd5b A G 6: 148,899,782 (GRCm39) F1205S probably damaging Het
Dop1a T C 9: 86,418,213 (GRCm39) S1981P probably damaging Het
Dsg1b A T 18: 20,532,578 (GRCm39) T541S probably benign Het
Dst T A 1: 34,262,876 (GRCm39) probably null Het
Dysf T C 6: 84,156,697 (GRCm39) V1508A probably benign Het
Erf A T 7: 24,944,731 (GRCm39) L200Q possibly damaging Het
Erich3 A G 3: 154,468,260 (GRCm39) probably benign Het
Esrrb C T 12: 86,561,225 (GRCm39) L320F probably damaging Het
Fap T A 2: 62,349,349 (GRCm39) D508V probably benign Het
Fdft1 A C 14: 63,402,034 (GRCm39) N48K probably benign Het
Fdps A G 3: 89,008,037 (GRCm39) V94A probably benign Het
Fes A T 7: 80,027,686 (GRCm39) H819Q probably benign Het
Foxd1 G T 13: 98,491,347 (GRCm39) D74Y unknown Het
Gm136 A T 4: 34,746,662 (GRCm39) probably benign Het
Gm5919 T A 9: 83,765,338 (GRCm39) L58* probably null Het
Gm6871 C T 7: 41,223,059 (GRCm39) V10I possibly damaging Het
Isy1 T C 6: 87,811,469 (GRCm39) R29G probably damaging Het
Kif16b T A 2: 142,554,873 (GRCm39) K653* probably null Het
Kif17 A G 4: 138,028,569 (GRCm39) T706A probably benign Het
Kif18b G T 11: 102,803,886 (GRCm39) P425T probably benign Het
Lama1 T A 17: 68,098,239 (GRCm39) V1812E probably benign Het
Lama5 A G 2: 179,843,780 (GRCm39) V430A probably benign Het
Lclat1 A G 17: 73,546,776 (GRCm39) E231G probably damaging Het
Lig4 T C 8: 10,021,692 (GRCm39) D696G probably benign Het
Mylpf T A 7: 126,813,309 (GRCm39) V151E probably damaging Het
Naa16 A T 14: 79,624,497 (GRCm39) M1K probably null Het
Ndufaf6 T C 4: 11,070,264 (GRCm39) K119R probably benign Het
Nt5c1b T C 12: 10,420,055 (GRCm39) probably benign Het
Or14a260 G A 7: 85,984,765 (GRCm39) P280S probably damaging Het
Or4a27 A G 2: 88,559,601 (GRCm39) V114A probably damaging Het
Or5t17 T C 2: 86,832,577 (GRCm39) V88A probably benign Het
Or8k33 T A 2: 86,384,204 (GRCm39) D88V probably damaging Het
Or9i16 T A 19: 13,864,954 (GRCm39) I207L probably benign Het
Otud4 A G 8: 80,399,776 (GRCm39) N830S probably benign Het
Pdcd10 A C 3: 75,448,486 (GRCm39) M26R probably damaging Het
Pitpnc1 A G 11: 107,117,071 (GRCm39) V223A possibly damaging Het
Pkp2 A G 16: 16,058,422 (GRCm39) D368G possibly damaging Het
Pla1a A T 16: 38,235,172 (GRCm39) M174K probably benign Het
Polr2b A G 5: 77,474,470 (GRCm39) K436E possibly damaging Het
Pwwp4a G T X: 72,171,261 (GRCm39) G218C probably damaging Het
Rdh16 A G 10: 127,637,226 (GRCm39) M54V probably benign Het
Sall2 C A 14: 52,551,293 (GRCm39) C632F probably damaging Het
Sart1 T A 19: 5,435,853 (GRCm39) I120F probably damaging Het
Slco1a1 A T 6: 141,881,661 (GRCm39) M157K probably damaging Het
Snapc4 T C 2: 26,266,209 (GRCm39) T178A probably benign Het
Sox6 T C 7: 115,400,654 (GRCm39) I63V probably benign Het
Spin1 T A 13: 51,303,135 (GRCm39) Y243N probably damaging Het
Stmnd1 T C 13: 46,453,097 (GRCm39) Y258H possibly damaging Het
Tex13b A T X: 139,710,819 (GRCm39) N184K probably benign Het
Tgm5 T C 2: 120,902,025 (GRCm39) T215A possibly damaging Het
Tnks2 A G 19: 36,849,022 (GRCm39) T165A probably benign Het
Tpo T C 12: 30,150,567 (GRCm39) M438V probably benign Het
Tyw1 A G 5: 130,298,169 (GRCm39) R237G probably benign Het
Unc5c G A 3: 141,463,598 (GRCm39) V240I possibly damaging Het
Unc80 A C 1: 66,548,467 (GRCm39) T580P probably damaging Het
Upp2 G A 2: 58,680,076 (GRCm39) E301K probably benign Het
Utp18 A G 11: 93,766,879 (GRCm39) probably null Het
Vmn1r23 T C 6: 57,903,046 (GRCm39) D244G possibly damaging Het
Vps13c T A 9: 67,760,985 (GRCm39) L51* probably null Het
Xpnpep3 A G 15: 81,314,968 (GRCm39) T223A probably benign Het
Zfp28 T A 7: 6,397,942 (GRCm39) H792Q possibly damaging Het
Zfp804a A G 2: 82,089,168 (GRCm39) K999R probably benign Het
Zkscan16 G A 4: 58,948,918 (GRCm39) V158M 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
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
R9683:Top2a UTSW 11 98,887,683 (GRCm39) missense probably benign 0.21
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'- TGCCTTCATAATCTCATCGGTCTAGTGT -3'
(R):5'- TGTGCTCAGTTACAGCAGTTAAACTCC -3'

Sequencing Primer
(F):5'- tcaggaggcagaggcag -3'
(R):5'- GCTCAATTTCAGTAGTTAAGTTCCC -3'
Posted On 2014-05-09