Mutagenetix > Incidental Mutation

Incidental Mutation 'R9143:Top2a'

694457

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 #

R9143 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

98883769-98915015 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 98900705 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Valine at position 585 (E585V)

Ref Sequence

ENSEMBL: ENSMUSP00000068896 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000068031]

AlphaFold

Q01320

Predicted Effect

probably benign
Transcript: ENSMUST00000068031
AA Change: E585V

PolyPhen 2 Score 0.135 (Sensitivity: 0.92; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000068896
Gene: ENSMUSG00000020914
AA Change: E585V

Domain	Start	End	E-Value	Type
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: 99.0%

Validation Efficiency

100% (44/44)

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: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9830107B12Rik	T	C	17: 48,452,605 (GRCm39)	I111M	probably damaging	Het
Arid2	A	G	15: 96,259,715 (GRCm39)	I292V	probably damaging	Het
Atl3	T	C	19: 7,509,408 (GRCm39)	S379P	probably benign	Het
Btbd16	C	T	7: 130,417,516 (GRCm39)	R344C	probably damaging	Het
Ccnt1	G	A	15: 98,441,688 (GRCm39)	H527Y	probably damaging	Het
Ces1d	T	A	8: 93,912,707 (GRCm39)	I244F	probably damaging	Het
Clec16a	C	A	16: 10,428,964 (GRCm39)	S449R	probably damaging	Het
Cngb3	T	A	4: 19,375,190 (GRCm39)		probably benign	Het
Col15a1	G	C	4: 47,288,200 (GRCm39)		probably benign	Het
Cubn	A	T	2: 13,337,276 (GRCm39)		probably benign	Het
Dsp	C	A	13: 38,377,337 (GRCm39)	S1707R	probably benign	Het
E330034G19Rik	A	T	14: 24,347,004 (GRCm39)	Q162L	possibly damaging	Het
F830045P16Rik	T	C	2: 129,316,502 (GRCm39)	N69S	probably benign	Het
Galnt10	C	T	11: 57,612,146 (GRCm39)	T62I	probably benign	Het
Gm19668	T	C	10: 77,634,960 (GRCm39)	D3G	unknown	Het
Hace1	T	A	10: 45,562,764 (GRCm39)	F760I	probably damaging	Het
Il20rb	A	G	9: 100,356,936 (GRCm39)	Y65H	probably damaging	Het
Insl5	C	A	4: 102,883,841 (GRCm39)	V27L	probably benign	Het
Jade2	T	C	11: 51,715,930 (GRCm39)	D425G	probably benign	Het
Lipg	T	C	18: 75,087,272 (GRCm39)	K183R	probably benign	Het
Lrrc59	T	A	11: 94,525,456 (GRCm39)	L84Q	probably damaging	Het
Lyst	T	A	13: 13,835,750 (GRCm39)	F1811I	probably damaging	Het
Mcf2l	A	G	8: 13,062,883 (GRCm39)		probably benign	Het
Nfil3	A	G	13: 53,121,792 (GRCm39)	S371P	probably benign	Het
Nin	A	G	12: 70,137,349 (GRCm39)	S76P		Het
Nuak1	C	T	10: 84,213,951 (GRCm39)		probably null	Het
Or8b47	A	T	9: 38,427,917 (GRCm39)		probably benign	Het
Or8g19	A	T	9: 39,055,722 (GRCm39)	I109F	possibly damaging	Het
Pld1	A	G	3: 28,132,643 (GRCm39)		probably benign	Het
Rcvrn	T	C	11: 67,590,890 (GRCm39)	F158S	possibly damaging	Het
Skap2	T	C	6: 51,885,409 (GRCm39)	T200A	probably benign	Het
Slc6a1	G	T	6: 114,292,503 (GRCm39)		probably benign	Het
Spag17	C	T	3: 99,934,906 (GRCm39)	T704M	probably benign	Het
Stxbp1	A	G	2: 32,688,157 (GRCm39)	S503P	probably damaging	Het
Susd5	A	T	9: 113,924,879 (GRCm39)	E254V	possibly damaging	Het
Sv2a	T	C	3: 96,097,983 (GRCm39)	S529P	possibly damaging	Het
Tigd2	T	A	6: 59,188,310 (GRCm39)	N392K	probably benign	Het
Tmem131l	A	G	3: 83,842,220 (GRCm39)	L525P	probably benign	Het
Tonsl	T	C	15: 76,514,824 (GRCm39)	M1127V	probably damaging	Het
Usp19	T	G	9: 108,375,398 (GRCm39)	L847R	probably damaging	Het
Vta1	T	C	10: 14,551,776 (GRCm39)	H141R	possibly damaging	Het
Zfp950	G	T	19: 61,108,778 (GRCm39)	P102T	probably benign	Het
Zzz3	T	C	3: 152,163,908 (GRCm39)	I869T	probably benign	Het

Other mutations in Top2a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
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'- GGTGCCCAAACCTATAGAAGC -3'
(R):5'- ACAATTGGCCATCTCTTCTGCG -3'

Sequencing Primer
(F):5'- GCCAACAAACATACAAAACAGATTAG -3'
(R):5'- CTGCGACATCGTTTTCTAGAAG -3'

Posted On

2022-01-20