Mutagenetix > Incidental Mutation

Incidental Mutation 'R9294:Top2a'

704481

Institutional Source

Beutler Lab

Gene Symbol

Top2a

Ensembl Gene

ENSMUSG00000020914

Gene Name

topoisomerase (DNA) II alpha

Synonyms

Top-2, DNA Topoisomerase II alpha

Accession Numbers

Ncbi RefSeq: NM_011623.2; MGI:98790

Is this an essential gene?

Probably essential (E-score: 0.971) question?

Stock #

R9294 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

98992943-99024189 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 99001078 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Alanine at position 1114 (S1114A)

Ref Sequence

ENSEMBL: ENSMUSP00000068896 (fasta)

Gene Model

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

AlphaFold

Q01320

Predicted Effect

probably benign
Transcript: ENSMUST00000068031
AA Change: S1114A

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000068896
Gene: ENSMUSG00000020914
AA Change: S1114A

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: 98.8%

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: 87 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610009O20Rik	T	G	18: 38,261,076	L442R	probably damaging	Het
1700067K01Rik	A	G	8: 84,003,379	Y165C	probably damaging	Het
2410089E03Rik	T	C	15: 8,203,327	V1110A	probably benign	Het
2810474O19Rik	T	A	6: 149,326,432	N325K	probably benign	Het
4930452B06Rik	A	G	14: 8,578,361	I127T	possibly damaging	Het
Abcb11	T	A	2: 69,265,496	K833N	possibly damaging	Het
Abcb1a	T	A	5: 8,686,171	M188K	probably benign	Het
Akap1	A	T	11: 88,837,140	V672D	probably damaging	Het
Anapc4	A	G	5: 52,864,525	T650A	possibly damaging	Het
Ash1l	C	A	3: 88,982,990	S725R	possibly damaging	Het
Axdnd1	T	A	1: 156,420,347	K28*	probably null	Het
C8b	C	A	4: 104,786,995	H286Q	probably benign	Het
Cacna2d1	A	G	5: 16,012,398	K34E	probably damaging	Het
Ccdc14	T	A	16: 34,697,358	H154Q	probably damaging	Het
Ccdc184	A	G	15: 98,168,512	D66G	probably damaging	Het
Ccdc62	A	G	5: 123,954,709	I586V	possibly damaging	Het
Chadl	A	T	15: 81,694,490	C313S	probably damaging	Het
Clec14a	C	A	12: 58,268,750	A29S	probably damaging	Het
Col26a1	C	T	5: 136,757,754	G161D	probably benign	Het
Ctbp2	A	G	7: 133,014,232	S325P	probably damaging	Het
Dcaf13	A	G	15: 39,130,292	D260G	possibly damaging	Het
Dhx37	G	A	5: 125,422,672	P575L	probably benign	Het
Dnajc6	T	C	4: 101,550,857		probably null	Het
Eapp	T	C	12: 54,690,276	T145A	unknown	Het
Efcab5	A	G	11: 77,121,238	M730T	probably benign	Het
Eif4g3	T	A	4: 138,190,657	D1305E	probably damaging	Het
Endou	A	T	15: 97,712,065	V450E	probably benign	Het
F10	A	T	8: 13,048,177	K127*	probably null	Het
Fbxw21	A	G	9: 109,143,762	F368S	probably damaging	Het
Fezf1	A	T	6: 23,245,798	L456Q	possibly damaging	Het
Foxo3	C	T	10: 42,197,025	V499M	probably damaging	Het
Fyco1	A	C	9: 123,794,813	C1384G	probably damaging	Het
Galnt6	G	T	15: 100,704,151	S258R	possibly damaging	Het
Gemin5	A	G	11: 58,137,748	V882A	probably benign	Het
Gm10750	A	G	2: 149,016,187	L48P	unknown	Het
Gm11639	A	G	11: 104,831,300	I1913V	probably benign	Het
Gm16503	T	A	4: 147,541,114	F22I	unknown	Het
Hdac10	A	G	15: 89,126,277	C281R	probably damaging	Het
Hikeshi	T	C	7: 89,935,760	S79G	probably damaging	Het
Ifitm2	AG	A	7: 140,955,901		probably null	Het
Itpr3	A	G	17: 27,111,217	E1603G	probably damaging	Het
Lrrc37a	A	T	11: 103,504,533	V22E	probably benign	Het
Man1a	C	T	10: 53,933,491		probably null	Het
Mdga1	A	G	17: 29,839,897	L5P	probably damaging	Het
Mettl7a1	A	G	15: 100,313,133	E213G	probably damaging	Het
Mup6	A	G	4: 60,004,838	I76M	probably benign	Het
Nbea	A	T	3: 56,091,092	M98K	probably benign	Het
Nckap1l	A	G	15: 103,473,539	E454G	probably damaging	Het
Notch3	A	T	17: 32,143,691	L1320Q	probably benign	Het
Nrn1	A	T	13: 36,726,674	L128H	probably damaging	Het
Numa1	T	C	7: 101,995,416	S200P	possibly damaging	Het
Numa1	A	G	7: 102,012,796	D1898G	probably damaging	Het
Olfr1124	G	A	2: 87,434,666	A60T	probably benign	Het
Olfr152	A	C	2: 87,782,523		probably null	Het
Olfr366	T	C	2: 37,220,110	I207T	possibly damaging	Het
Olfr700	A	T	7: 106,806,398	S21R	possibly damaging	Het
P2ry6	A	T	7: 100,938,926	Y75*	probably null	Het
Pbrm1	T	A	14: 31,084,803	C1062*	probably null	Het
Pcdh15	A	G	10: 74,643,728	E557G	unknown	Het
Pcdh7	T	C	5: 57,721,335	L744P	probably benign	Het
Plekhg3	A	T	12: 76,562,278	I142L	possibly damaging	Het
Plk4	C	T	3: 40,811,891	H695Y	probably damaging	Het
Pms1	T	C	1: 53,208,057	H243R	probably benign	Het
Prdm14	T	C	1: 13,122,483	D344G	possibly damaging	Het
R3hdml	A	G	2: 163,502,332	I214V	probably benign	Het
Rab11fip5	T	C	6: 85,348,710	N238S	probably benign	Het
Sacs	T	A	14: 61,240,319	Y732N	possibly damaging	Het
Scfd1	T	A	12: 51,393,866	M187K	possibly damaging	Het
Serpina1d	A	G	12: 103,767,998	C16R	probably damaging	Het
Slc2a12	T	C	10: 22,665,095	I283T	possibly damaging	Het
Smarca5	A	G	8: 80,719,803	Y423H	probably damaging	Het
Srrm3	C	A	5: 135,868,261	A366E	unknown	Het
St7	A	T	6: 17,844,914	K134*	probably null	Het
St8sia5	T	G	18: 77,254,829	C412G	probably damaging	Het
Tanc2	A	T	11: 105,886,458	I821F	probably damaging	Het
Tbrg4	A	G	11: 6,624,204	M6T	probably benign	Het
Tcf20	A	T	15: 82,852,696	I1518N	probably benign	Het
Tctn3	A	G	19: 40,607,276	V355A	probably benign	Het
Tenm2	A	T	11: 36,024,500	F2070Y	probably damaging	Het
Tex2	A	G	11: 106,568,535	V23A	probably damaging	Het
Thrsp	C	G	7: 97,417,074	E144Q	probably damaging	Het
Tpm1	A	G	9: 67,029,716	Y267H	probably benign	Het
Txndc2	G	T	17: 65,639,024	P53T	unknown	Het
Ugt2b36	A	T	5: 87,081,017	I389N	probably damaging	Het
Virma	C	T	4: 11,513,507	R454*	probably null	Het
Vwa3b	T	A	1: 37,035,801	H16Q	probably damaging	Het
Zbp1	A	G	2: 173,210,643	M240T	possibly damaging	Het

Other mutations in Top2a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00518:Top2a	APN	11	99018821	nonsense	probably null
IGL01285:Top2a	APN	11	99006159	splice site	probably benign
IGL01445:Top2a	APN	11	99011030	missense	probably damaging	1.00
IGL01451:Top2a	APN	11	99011030	missense	probably damaging	1.00
IGL01456:Top2a	APN	11	99011030	missense	probably damaging	1.00
IGL01458:Top2a	APN	11	99011030	missense	probably damaging	1.00
IGL01481:Top2a	APN	11	99011030	missense	probably damaging	1.00
IGL01485:Top2a	APN	11	99011030	missense	probably damaging	1.00
IGL01753:Top2a	APN	11	99007274	missense	probably damaging	0.97
IGL03029:Top2a	APN	11	99018799	missense	probably benign	0.03
PIT4581001:Top2a	UTSW	11	99002964	missense	probably damaging	0.97
PIT4585001:Top2a	UTSW	11	99001373	missense	probably benign	0.02
R0008:Top2a	UTSW	11	99002903	nonsense	probably null
R0047:Top2a	UTSW	11	98997856	missense	probably benign
R0047:Top2a	UTSW	11	98997856	missense	probably benign
R0070:Top2a	UTSW	11	99015060	critical splice acceptor site	probably null
R0070:Top2a	UTSW	11	99015060	critical splice acceptor site	probably null
R0116:Top2a	UTSW	11	99003590	missense	probably benign	0.00
R0245:Top2a	UTSW	11	99010096	missense	probably benign	0.37
R0276:Top2a	UTSW	11	99009907	splice site	probably benign
R0288:Top2a	UTSW	11	99016423	splice site	probably benign
R0335:Top2a	UTSW	11	99022955	missense	probably benign	0.08
R0422:Top2a	UTSW	11	99009853	missense	probably damaging	1.00
R0546:Top2a	UTSW	11	98999226	missense	possibly damaging	0.75
R0558:Top2a	UTSW	11	98996839	missense	probably benign
R0599:Top2a	UTSW	11	99001417	missense	probably damaging	0.99
R0727:Top2a	UTSW	11	99012148	nonsense	probably null
R1565:Top2a	UTSW	11	99001054	missense	probably damaging	0.99
R1674:Top2a	UTSW	11	99009273	missense	probably damaging	0.96
R1844:Top2a	UTSW	11	99016069	missense	probably benign	0.06
R1959:Top2a	UTSW	11	98995977	splice site	probably null
R2124:Top2a	UTSW	11	99004228	missense	probably benign	0.00
R2128:Top2a	UTSW	11	99009807	missense	probably damaging	0.97
R3707:Top2a	UTSW	11	98996825	missense	probably benign	0.13
R4110:Top2a	UTSW	11	99022960	missense	probably damaging	1.00
R4112:Top2a	UTSW	11	99022960	missense	probably damaging	1.00
R4423:Top2a	UTSW	11	99001405	missense	probably benign	0.00
R4425:Top2a	UTSW	11	99001405	missense	probably benign	0.00
R4914:Top2a	UTSW	11	99002960	missense	probably damaging	1.00
R4939:Top2a	UTSW	11	99010092	missense	probably damaging	1.00
R4944:Top2a	UTSW	11	98997850	missense	probably benign	0.37
R4971:Top2a	UTSW	11	98993841	missense	probably damaging	1.00
R5362:Top2a	UTSW	11	99018912	missense	probably damaging	1.00
R5477:Top2a	UTSW	11	99016480	nonsense	probably null
R5499:Top2a	UTSW	11	99022376	missense	probably benign	0.20
R5911:Top2a	UTSW	11	99016465	missense	possibly damaging	0.92
R7126:Top2a	UTSW	11	99014992	missense	probably benign	0.09
R7131:Top2a	UTSW	11	99004182	missense	possibly damaging	0.75
R7174:Top2a	UTSW	11	99024096	start gained	probably benign
R7329:Top2a	UTSW	11	99004246	missense	possibly damaging	0.57
R7560:Top2a	UTSW	11	99000837	missense	probably benign
R7563:Top2a	UTSW	11	99016179	missense	probably damaging	1.00
R7740:Top2a	UTSW	11	98993814	missense	probably benign	0.34
R7841:Top2a	UTSW	11	99022350	missense	probably damaging	1.00
R7894:Top2a	UTSW	11	99009605	missense	probably damaging	1.00
R8122:Top2a	UTSW	11	98999167	missense	probably benign
R8260:Top2a	UTSW	11	99000769	missense	probably null	0.87
R8504:Top2a	UTSW	11	99014741	missense	probably benign
R8550:Top2a	UTSW	11	98995918	missense	probably benign
R8558:Top2a	UTSW	11	99021723	missense	probably damaging	1.00
R8693:Top2a	UTSW	11	99010042	missense	probably damaging	1.00
R8851:Top2a	UTSW	11	99009851	missense	probably damaging	1.00
R9143:Top2a	UTSW	11	99009879	missense	probably benign	0.14
R9240:Top2a	UTSW	11	99010542	nonsense	probably null
R9301:Top2a	UTSW	11	99006964	missense	probably damaging	0.99
R9383:Top2a	UTSW	11	99011058	nonsense	probably null
R9450:Top2a	UTSW	11	99003608	missense	possibly damaging	0.73
R9515:Top2a	UTSW	11	99012144	missense	probably damaging	0.99
U24488:Top2a	UTSW	11	99022426	missense	probably damaging	1.00
X0025:Top2a	UTSW	11	98995941	missense	probably benign	0.32

Predicted Primers

PCR Primer
(F):5'- GCAGAACCCAGTTAAATTTCCC -3'
(R):5'- TTGCTAAGCTCCGAGGATGTC -3'

Sequencing Primer
(F):5'- CCCAGTTAAATTTCCCACCAGG -3'
(R):5'- TGCTCTGGCACTCATCAGG -3'

Posted On

2022-03-25