Incidental Mutation 'IGL01481:Top2a'
ID 278527
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Top2a
Ensembl Gene ENSMUSG00000020914
Gene Name topoisomerase (DNA) II alpha
Synonyms DNA Topoisomerase II alpha, Top-2
Accession Numbers
Essential gene? Probably essential (E-score: 0.970) question?
Stock # IGL01481
Quality Score
Status
Chromosome 11
Chromosomal Location 98883769-98915015 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 98901856 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Glutamine at position 458 (L458Q)
Ref Sequence ENSEMBL: ENSMUSP00000068896 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000068031]
AlphaFold Q01320
Predicted Effect probably damaging
Transcript: ENSMUST00000068031
AA Change: L458Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000068896
Gene: ENSMUSG00000020914
AA Change: L458Q

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
Coding Region Coverage
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: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930590J08Rik A T 6: 91,910,079 (GRCm39) S523C probably damaging Het
Apaf1 A T 10: 90,867,450 (GRCm39) D798E possibly damaging Het
Arhgef7 G T 8: 11,865,256 (GRCm39) V410L probably benign Het
Capn7 T C 14: 31,077,296 (GRCm39) L338P probably damaging Het
Cldn17 A G 16: 88,303,471 (GRCm39) V86A probably benign Het
Clec4a2 A G 6: 123,119,459 (GRCm39) N237S probably benign Het
Cmtr1 T G 17: 29,917,631 (GRCm39) I654S probably benign Het
Cryzl2 G A 1: 157,298,309 (GRCm39) probably null Het
Ctif A G 18: 75,744,855 (GRCm39) probably benign Het
Dcaf7 T A 11: 105,945,572 (GRCm39) I307N probably damaging Het
Drosha A T 15: 12,842,525 (GRCm39) T399S probably benign Het
Eef2k A T 7: 120,494,441 (GRCm39) Y35F probably benign Het
Emc1 T C 4: 139,089,410 (GRCm39) S193P probably benign Het
Fpr2 T C 17: 18,113,025 (GRCm39) I7T probably benign Het
Fras1 C A 5: 96,805,100 (GRCm39) N1247K probably damaging Het
Gipr T C 7: 18,893,431 (GRCm39) probably benign Het
Heatr5a C T 12: 52,002,208 (GRCm39) G243S probably damaging Het
Hivep2 G A 10: 14,024,981 (GRCm39) R2265Q probably benign Het
Iars1 T C 13: 49,882,174 (GRCm39) S1073P probably benign Het
Inpp4b T C 8: 82,724,009 (GRCm39) S514P probably damaging Het
Inpp5b T A 4: 124,694,492 (GRCm39) probably null Het
Itga2 C T 13: 114,996,168 (GRCm39) V708I possibly damaging Het
Itih5 A C 2: 10,195,100 (GRCm39) Q164P probably damaging Het
Map3k19 T A 1: 127,750,215 (GRCm39) E1045D probably damaging Het
Mbd5 T C 2: 49,168,951 (GRCm39) V1374A possibly damaging Het
Mrps34 T C 17: 25,116,310 (GRCm39) probably benign Het
Nadsyn1 T C 7: 143,366,321 (GRCm39) D191G probably damaging Het
Nlrc3 T G 16: 3,781,769 (GRCm39) N563H probably damaging Het
Nlrp4c T C 7: 6,103,783 (GRCm39) C906R possibly damaging Het
Or10g6 T C 9: 39,934,574 (GRCm39) M295T possibly damaging Het
Or1j15 T A 2: 36,458,754 (GRCm39) L48H probably damaging Het
Or4a79 A G 2: 89,551,870 (GRCm39) L195P probably damaging Het
Or52u1 C A 7: 104,237,067 (GRCm39) P36T probably damaging Het
Pdgfd C A 9: 6,337,271 (GRCm39) T195K probably null Het
Ptprz1 C A 6: 22,999,979 (GRCm39) Q690K probably benign Het
Scfd1 T A 12: 51,430,903 (GRCm39) M23K probably damaging Het
Scn10a G A 9: 119,438,260 (GRCm39) R1869C probably damaging Het
Scp2 T C 4: 107,931,639 (GRCm39) probably null Het
Sec61a1 A G 6: 88,483,829 (GRCm39) V354A probably benign Het
Sgpp1 T C 12: 75,769,431 (GRCm39) I246V probably benign Het
Slco2a1 G T 9: 102,947,450 (GRCm39) D250Y probably damaging Het
Slit2 A G 5: 48,460,273 (GRCm39) N1435D probably benign Het
Sspo A G 6: 48,425,449 (GRCm39) I23M probably benign Het
Steap4 A T 5: 8,026,858 (GRCm39) T274S probably damaging Het
Tbc1d22b T C 17: 29,787,572 (GRCm39) L107P possibly damaging Het
Tiparp G T 3: 65,460,030 (GRCm39) G442* probably null Het
Tmem45a2 T A 16: 56,867,375 (GRCm39) I109F probably benign Het
Tox T A 4: 6,842,396 (GRCm39) T45S probably damaging Het
Vmn2r4 A T 3: 64,313,816 (GRCm39) N388K probably damaging Het
Wdr7 G A 18: 63,872,250 (GRCm39) D395N probably 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
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
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
Posted On 2015-04-16