Mutagenetix > Incidental Mutation

Incidental Mutation 'R0276:Top2a'

35399

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

038498-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.970) question?

Stock #

R0276 (G1)

Quality Score

224

Status

Validated

Chromosome

Chromosomal Location

98883769-98915015 bp(-) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

A to G at 98900733 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000068896 (fasta)

Gene Model

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

AlphaFold

Q01320

Predicted Effect

probably benign
Transcript: ENSMUST00000068031

SMART Domains

Protein: ENSMUSP00000068896
Gene: ENSMUSG00000020914

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000144318

Coding Region Coverage

1x: 98.7%
3x: 97.8%
10x: 96.2%
20x: 93.8%

Validation Efficiency

98% (101/103)

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: 100 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts13	A	G	2: 26,865,772 (GRCm39)	N109S	possibly damaging	Het
Adcy10	T	A	1: 165,400,160 (GRCm39)	M1523K	possibly damaging	Het
Agtpbp1	C	T	13: 59,609,845 (GRCm39)	S1095N	possibly damaging	Het
Ang2	C	T	14: 51,432,975 (GRCm39)	V136I	probably damaging	Het
Arhgap10	A	T	8: 78,140,210 (GRCm39)	M250K	probably benign	Het
Arhgap33	A	T	7: 30,222,669 (GRCm39)	W1088R	probably benign	Het
Arhgef15	T	C	11: 68,844,298 (GRCm39)		probably benign	Het
Aspm	T	C	1: 139,406,209 (GRCm39)	S1699P	possibly damaging	Het
Atp12a	C	A	14: 56,625,151 (GRCm39)	D1014E	probably damaging	Het
Atp1a4	T	A	1: 172,085,468 (GRCm39)	K45M	probably damaging	Het
Atp8a1	A	T	5: 67,944,016 (GRCm39)		probably benign	Het
Baiap3	A	C	17: 25,462,661 (GRCm39)	F1099C	probably damaging	Het
Bcas3	T	A	11: 85,361,663 (GRCm39)		probably null	Het
Bms1	G	A	6: 118,385,095 (GRCm39)	T371M	possibly damaging	Het
Camta1	C	A	4: 151,159,597 (GRCm39)	R1614L	probably damaging	Het
Capn3	T	C	2: 120,318,546 (GRCm39)		probably benign	Het
Ccdc180	A	G	4: 45,923,534 (GRCm39)	D1105G	probably damaging	Het
Ccdc33	G	T	9: 57,965,675 (GRCm39)	P364Q	probably damaging	Het
Clstn3	A	G	6: 124,408,699 (GRCm39)		probably benign	Het
Cntrl	A	T	2: 35,041,744 (GRCm39)	Y619F	possibly damaging	Het
Col12a1	A	T	9: 79,538,023 (GRCm39)	Y2514*	probably null	Het
Cpt1b	T	C	15: 89,304,162 (GRCm39)	H503R	probably benign	Het
Crb1	T	A	1: 139,251,073 (GRCm39)	T293S	possibly damaging	Het
D130043K22Rik	C	T	13: 25,042,028 (GRCm39)	T319I	possibly damaging	Het
Dnaaf10	T	C	11: 17,179,821 (GRCm39)	I274T	probably benign	Het
Dzip1l	G	A	9: 99,543,051 (GRCm39)	R502Q	probably benign	Het
Efcab5	A	G	11: 77,020,702 (GRCm39)	M673T	probably damaging	Het
Efcab5	G	A	11: 77,031,749 (GRCm39)	R42W	probably damaging	Het
F2rl3	A	G	8: 73,489,426 (GRCm39)	T218A	probably benign	Het
Fam135a	C	T	1: 24,107,045 (GRCm39)	R31H	probably damaging	Het
Fcer2a	A	T	8: 3,739,811 (GRCm39)	N53K	possibly damaging	Het
Golgb1	A	C	16: 36,734,238 (GRCm39)	K1162Q	probably damaging	Het
Gpr137b	A	T	13: 13,542,160 (GRCm39)		probably benign	Het
Haspin	A	T	11: 73,027,313 (GRCm39)	L592Q	probably damaging	Het
Helq	A	G	5: 100,938,013 (GRCm39)	F478L	probably damaging	Het
Iho1	A	T	9: 108,305,639 (GRCm39)	M11K	possibly damaging	Het
Il17rb	T	A	14: 29,726,337 (GRCm39)	T84S	probably damaging	Het
Itga4	T	C	2: 79,151,837 (GRCm39)	L880P	probably damaging	Het
Itih5	A	G	2: 10,190,375 (GRCm39)	I61V	possibly damaging	Het
Ivl	G	A	3: 92,478,821 (GRCm39)	L415F	unknown	Het
Kif2a	A	G	13: 107,113,158 (GRCm39)		probably benign	Het
Kmt2d	T	C	15: 98,748,192 (GRCm39)		probably benign	Het
Lars2	A	G	9: 123,267,186 (GRCm39)		probably benign	Het
Lilrb4a	T	C	10: 51,367,677 (GRCm39)	V73A	probably benign	Het
Lratd2	G	T	15: 60,695,523 (GRCm39)	Y74*	probably null	Het
Lrrc8a	A	G	2: 30,146,800 (GRCm39)	D538G	possibly damaging	Het
Lrrk1	G	A	7: 65,946,011 (GRCm39)		probably benign	Het
Mc2r	A	T	18: 68,541,203 (GRCm39)	I30K	possibly damaging	Het
Mybbp1a	C	A	11: 72,340,933 (GRCm39)		probably null	Het
Napg	C	T	18: 63,120,034 (GRCm39)	R149C	probably damaging	Het
Ncam2	A	G	16: 81,314,517 (GRCm39)		probably benign	Het
Nlk	T	C	11: 78,462,301 (GRCm39)	I509V	probably benign	Het
Nlrp2	A	T	7: 5,331,108 (GRCm39)	N429K	probably benign	Het
Nlrp9b	A	G	7: 19,762,423 (GRCm39)	T247A	probably benign	Het
Noxo1	A	T	17: 24,919,136 (GRCm39)		probably null	Het
Or1n1b	A	T	2: 36,780,035 (GRCm39)	M275K	probably benign	Het
Or2ag2b	A	T	7: 106,417,904 (GRCm39)	I205L	probably benign	Het
Or3a10	A	G	11: 73,935,944 (GRCm39)	I52T	probably damaging	Het
Or4c107	T	A	2: 88,789,099 (GRCm39)	C96*	probably null	Het
Or4m1	C	A	14: 50,557,636 (GRCm39)	A219S	probably benign	Het
Oxr1	T	C	15: 41,683,458 (GRCm39)	S294P	probably damaging	Het
Pfpl	A	G	19: 12,406,601 (GRCm39)	Y284C	probably damaging	Het
Pi16	A	T	17: 29,545,917 (GRCm39)	T232S	probably benign	Het
Plcxd2	A	T	16: 45,830,070 (GRCm39)	N50K	probably benign	Het
Plekhn1	T	A	4: 156,312,703 (GRCm39)	N52Y	probably damaging	Het
Prl2c5	T	C	13: 13,357,634 (GRCm39)		probably benign	Het
Prrc2b	G	A	2: 32,109,666 (GRCm39)	V1080I	probably damaging	Het
Psg28	A	T	7: 18,164,321 (GRCm39)	N130K	probably benign	Het
Psme4	C	A	11: 30,761,980 (GRCm39)	T440K	probably damaging	Het
Ptcd2	T	C	13: 99,458,104 (GRCm39)	K296E	probably benign	Het
Ptprq	T	C	10: 107,378,596 (GRCm39)		probably null	Het
Rab5b	A	C	10: 128,522,615 (GRCm39)		probably null	Het
Rft1	T	A	14: 30,412,540 (GRCm39)	S534T	probably benign	Het
Rif1	GCCACCA	GCCA	2: 52,000,336 (GRCm39)		probably benign	Het
Rsu1	A	T	2: 13,174,946 (GRCm39)		probably benign	Het
Senp6	A	G	9: 80,044,029 (GRCm39)	M887V	probably benign	Het
Sgcz	T	A	8: 38,420,073 (GRCm39)	M60L	probably benign	Het
Siglec1	G	A	2: 130,925,861 (GRCm39)	Q282*	probably null	Het
Sipa1l2	T	C	8: 126,148,679 (GRCm39)	T1655A	probably damaging	Het
Slc28a2b	T	A	2: 122,352,409 (GRCm39)	S389T	probably damaging	Het
Slc43a3	G	A	2: 84,768,007 (GRCm39)		probably benign	Het
Snx29	T	C	16: 11,556,237 (GRCm39)	V756A	probably benign	Het
Spta1	T	A	1: 174,045,460 (GRCm39)	H1539Q	probably damaging	Het
Stk3	A	C	15: 35,099,615 (GRCm39)	S104A	probably damaging	Het
Stk38	C	A	17: 29,211,390 (GRCm39)		probably null	Het
Stx6	T	C	1: 155,049,909 (GRCm39)		probably benign	Het
Thbs4	G	A	13: 92,912,040 (GRCm39)	T230I	probably benign	Het
Thrsp	A	G	7: 97,066,709 (GRCm39)	M1T	probably null	Het
Tmem63b	A	T	17: 45,986,299 (GRCm39)		probably benign	Het
Tpd52l2	T	C	2: 181,143,852 (GRCm39)		probably null	Het
Trak1	A	G	9: 121,283,404 (GRCm39)	E390G	probably damaging	Het
Trappc3	T	A	4: 126,167,745 (GRCm39)	D101E	possibly damaging	Het
Trhr	A	G	15: 44,060,482 (GRCm39)	M1V	probably null	Het
Triobp	T	A	15: 78,857,876 (GRCm39)	I1159K	probably benign	Het
Unc45a	A	G	7: 79,976,045 (GRCm39)		probably benign	Het
Usb1	A	G	8: 96,060,085 (GRCm39)	D12G	probably damaging	Het
Ushbp1	C	T	8: 71,847,293 (GRCm39)	C113Y	possibly damaging	Het
Vim	A	G	2: 13,579,670 (GRCm39)	K143R	probably benign	Het
Vmn2r75	T	C	7: 85,797,515 (GRCm39)	K766R	probably benign	Het
Xpo5	T	G	17: 46,552,433 (GRCm39)	C1089G	probably damaging	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
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

Predicted Primers

PCR Primer
(F):5'- TGAGCACACTGAGAGTGACCTCTG -3'
(R):5'- GGTTCCCACATCAAAGGCTTGCTG -3'

Sequencing Primer
(F):5'- CTTCAGGGCCAGAGTATTTGAAC -3'
(R):5'- AGGCTTGCTGATCAATTTTATCC -3'

Posted On

2013-05-09