Mutagenetix > Incidental Mutation

Incidental Mutation 'R9565:Top2b'

721521

Institutional Source

Beutler Lab

Gene Symbol

Top2b

Ensembl Gene

ENSMUSG00000017485

Gene Name

topoisomerase (DNA) II beta

Synonyms

D230016L12Rik, Top-2

MMRRC Submission

Accession Numbers

Essential gene?

Probably essential (E-score: 0.922) question?

Stock #

R9565 (G1)

Quality Score

147.008

Status

Not validated

Chromosome

Chromosomal Location

16365179-16435462 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 16365718 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Proline at position 14 (T14P)

Ref Sequence

ENSEMBL: ENSMUSP00000017629 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000017629]

AlphaFold

Q64511

Predicted Effect

probably benign
Transcript: ENSMUST00000017629
AA Change: T14P

PolyPhen 2 Score 0.094 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000017629
Gene: ENSMUSG00000017485
AA Change: T14P

Domain	Start	End	E-Value	Type
Blast:TOP2c	32	70	7e-10	BLAST
HATPase_c	85	234	1.91e-2	SMART
TOP2c	89	679	N/A	SMART
TOP4c	702	1175	2.55e-230	SMART
low complexity region	1201	1215	N/A	INTRINSIC
low complexity region	1287	1299	N/A	INTRINSIC
low complexity region	1324	1336	N/A	INTRINSIC
low complexity region	1360	1382	N/A	INTRINSIC
Pfam:DTHCT	1495	1597	4.6e-31	PFAM

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.5%

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, beta, is localized to chromosome 3 and the alpha form is localized to chromosome 17. 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. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2016]
PHENOTYPE: Homozygous null mice exhibit abnormal innervation. Offspring die shortly after birth due to respiratory failure. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 123 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1600015I10Rik	T	C	6: 48,930,975	M303T	probably benign	Het
2310035C23Rik	T	C	1: 105,664,151	V15A	probably damaging	Het
4930402H24Rik	G	A	2: 130,806,791	T257M	unknown	Het
Aco2	G	A	15: 81,889,434	R58Q	probably null	Het
Actl11	A	T	9: 107,930,922	T815S	possibly damaging	Het
Actr5	A	G	2: 158,628,215	D255G	probably damaging	Het
Acvr1	T	C	2: 58,448,373	K446E	probably damaging	Het
Adam39	T	C	8: 40,824,718	Y49H	probably benign	Het
Adcy7	TGG	TG	8: 88,326,425		probably null	Het
Amn1	C	T	6: 149,188,605		probably benign	Het
Ankdd1a	C	T	9: 65,504,170	A352T	possibly damaging	Het
Arl4c	A	G	1: 88,701,412	C85R	probably damaging	Het
Asgr2	T	A	11: 70,105,484		probably null	Het
Bdkrb1	G	A	12: 105,604,819	V215I	probably benign	Het
Btn2a2	C	A	13: 23,478,678	K367N	possibly damaging	Het
Btnl10	T	A	11: 58,922,363	F273I	probably benign	Het
C7	T	A	15: 5,057,097		probably null	Het
Cap1	A	G	4: 122,864,712	V225A	probably benign	Het
Card6	TTGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGCGGATGAGAGGGCTTAGCATGGGAGGACTG	TTGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGCGGATGAGAGGGCTTAGCATGGGAGGACTG	15: 5,098,691		probably benign	Het
Ccdc18	A	G	5: 108,191,934	T782A	probably damaging	Het
Ccdc187	T	C	2: 26,293,686	S101G	possibly damaging	Het
Ccdc30	T	C	4: 119,393,624	N141S	possibly damaging	Het
Cdc42bpg	T	G	19: 6,320,666	L1263R	probably damaging	Het
Cdc42ep1	A	T	15: 78,849,582	H294L	probably benign	Het
Cdk12	A	G	11: 98,249,802	N1290D	unknown	Het
Ces1g	A	G	8: 93,335,164	V38A	probably benign	Het
Cntnap4	A	C	8: 112,856,350	Y1020S	probably benign	Het
Col7a1	T	C	9: 108,962,741	V1232A	unknown	Het
Ctdsp2	A	G	10: 126,996,171	D216G	probably damaging	Het
Cyp2j6	A	G	4: 96,526,008	I340T	probably damaging	Het
Cyp4f37	A	G	17: 32,625,231	D103G	possibly damaging	Het
Dlgap1	T	G	17: 70,657,463	N400K	probably benign	Het
Dnah1	C	A	14: 31,264,437	A3698S	probably damaging	Het
Dnah12	C	A	14: 26,875,324	R3547S	possibly damaging	Het
Dnah3	A	G	7: 120,010,891	V1774A	probably benign	Het
Drc7	A	G	8: 95,075,238	E709G	probably damaging	Het
Dsc1	T	A	18: 20,107,734	D178V	probably damaging	Het
Duox1	T	C	2: 122,320,722	Y293H	probably damaging	Het
Epas1	T	A	17: 86,805,239	D88E	probably damaging	Het
Epdr1	A	G	13: 19,594,651	F92L	possibly damaging	Het
Eri3	T	A	4: 117,564,816	V136E	probably benign	Het
Espl1	T	A	15: 102,319,798	I1669N	possibly damaging	Het
Etv6	A	G	6: 134,248,709	N212S	probably benign	Het
Fam186b	A	T	15: 99,278,804	L735Q	probably damaging	Het
Fam186b	G	A	15: 99,279,735	A570V	probably damaging	Het
Fam208a	T	C	14: 27,479,809		probably null	Het
Fam212a	T	A	9: 107,984,289	Y276F	probably benign	Het
Fan1	A	G	7: 64,349,492	L874P	possibly damaging	Het
Fancm	A	G	12: 65,121,720	N1619S	probably damaging	Het
Fbln5	A	T	12: 101,768,463	N183K	probably damaging	Het
Fbn2	T	C	18: 58,095,226	H746R	probably benign	Het
Fbxw17	T	C	13: 50,425,569	W141R	probably damaging	Het
Fbxw25	T	A	9: 109,654,608	N179Y		Het
Gbe1	A	T	16: 70,401,776	Y119F	probably benign	Het
Gcnt7	T	A	2: 172,451,260	Y369F	probably damaging	Het
Gdf9	T	A	11: 53,436,684	S156T	probably damaging	Het
Gm11236	G	T	4: 73,638,953	V8F	probably damaging	Het
Gm14295	T	C	2: 176,807,369	V4A	probably benign	Het
Gm8369	A	C	19: 11,511,651	T101P	probably benign	Het
Herc3	A	G	6: 58,859,014	N280S	probably null	Het
Hipk2	T	A	6: 38,747,455	R447W	probably damaging	Het
Hjurp	TCTGGGAGGGCTTGCTCCGGGGGCAGTGTGTCCTGTTCTTGTGCAGCCCCTGCT	TCT	1: 88,266,278		probably benign	Het
Hltf	G	A	3: 20,082,832		probably null	Het
Ik	C	A	18: 36,753,906	D397E	probably benign	Het
Ikbkap	G	T	4: 56,772,521	P867T	probably benign	Het
Kcnc1	G	A	7: 46,427,586	V271M	probably benign	Het
Kif21b	A	T	1: 136,149,352	I371F	probably damaging	Het
Klrc1	A	G	6: 129,678,783	F43S	probably damaging	Het
Krt8	A	G	15: 102,004,025	V72A	probably benign	Het
Krtap6-2	A	G	16: 89,419,834	S82P	unknown	Het
Lrrc15	G	A	16: 30,274,198	L108F	probably damaging	Het
Lvrn	T	G	18: 46,884,439	I612S	probably damaging	Het
Map3k3	T	A	11: 106,151,034	I413N	probably damaging	Het
Mark3	A	G	12: 111,604,526	I87V	probably damaging	Het
Mki67	GTT	GTTT	7: 135,707,504		probably null	Het
Mmp1a	TG	TGG	9: 7,465,083		probably null	Het
Mrgprb2	G	A	7: 48,552,926	T17M	possibly damaging	Het
Myh3	C	T	11: 67,092,361	R905*	probably null	Het
Myh8	T	C	11: 67,286,389	V427A	probably benign	Het
Myocd	T	C	11: 65,187,383	K529E	probably damaging	Het
Myom2	A	T	8: 15,108,399	K784*	probably null	Het
Olfr225	T	G	11: 59,613,513	I183S	probably damaging	Het
Olfr365	G	T	2: 37,201,563	M107I	probably benign	Het
Olfr820	T	C	10: 130,017,418	I19T	probably benign	Het
Pabpc4	T	C	4: 123,286,860	I125T	probably damaging	Het
Parp14	A	G	16: 35,857,405	I731T	probably benign	Het
Pde6c	T	A	19: 38,158,560		probably null	Het
Pias3	T	A	3: 96,703,551	C391S	possibly damaging	Het
Pknox2	A	T	9: 36,923,771	M134K	probably damaging	Het
Pot1b	A	G	17: 55,662,465	S568P	possibly damaging	Het
Ppp1r3a	T	A	6: 14,719,467	T483S	probably benign	Het
Rag1	A	T	2: 101,642,982	V605E	probably damaging	Het
Ros1	T	C	10: 52,067,074	D2048G	probably damaging	Het
Rp2	A	G	X: 20,377,542	D252G	probably benign	Het
Rpgrip1l	A	C	8: 91,304,888	H120Q	probably benign	Het
Rpl24	T	A	16: 55,970,146	S122T	probably benign	Het
Sec61b	A	G	4: 47,483,049	Y93C	probably damaging	Het
Sema6a	A	T	18: 47,249,527	L651Q	probably null	Het
Serpinb6a	T	A	13: 33,918,417	K275I	probably damaging	Het
Skiv2l	C	T	17: 34,844,782	A562T	probably benign	Het
Skor2	C	T	18: 76,858,681	H33Y	unknown	Het
Slc26a7	T	C	4: 14,519,496	N508S	probably benign	Het
Slc2a4	A	G	11: 69,946,347	F88L	probably damaging	Het
Slc8b1	A	G	5: 120,527,800	T399A	probably benign	Het
Slfn5	A	T	11: 82,956,873	M195L	possibly damaging	Het
Snx17	C	A	5: 31,197,744	Q368K	probably damaging	Het
Tbcb	A	T	7: 30,231,124		probably null	Het
Telo2	A	G	17: 25,115,225	I16T	probably benign	Het
Timm50	A	G	7: 28,307,644	F202S	possibly damaging	Het
Tle2	A	G	10: 81,581,733	D244G	probably benign	Het
Tlr4	G	A	4: 66,841,285	V772I	possibly damaging	Het
Tmem214	G	A	5: 30,869,699	W11*	probably null	Het
Trim44	T	C	2: 102,357,482	T309A	probably benign	Het
Tuba8	A	G	6: 121,223,104	N249S	probably benign	Het
Tubb4a	A	G	17: 57,081,027	V333A	probably benign	Het
Ugdh	C	A	5: 65,418,533	D328Y	possibly damaging	Het
Vmn1r189	A	G	13: 22,102,256	L137P	probably damaging	Het
Vmn1r208	A	G	13: 22,772,619	V236A	probably damaging	Het
Vmn2r29	A	T	7: 7,241,856	W340R	probably benign	Het
Vmn2r52	A	C	7: 10,159,549	D554E	probably benign	Het
Wdr36	C	T	18: 32,861,115	Q669*	probably null	Het
Wiz	G	T	17: 32,356,965	D812E	probably benign	Het
Zfp777	A	T	6: 48,044,646	V14D	possibly damaging	Het

Other mutations in Top2b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00430:Top2b	APN	14	16422692	missense	probably benign	0.00
IGL00730:Top2b	APN	14	16389831	missense	probably damaging	1.00
IGL00917:Top2b	APN	14	16407354	missense	probably benign	0.05
IGL01959:Top2b	APN	14	16422695	missense	probably benign	0.19
IGL02019:Top2b	APN	14	16409965	missense	probably benign	0.44
IGL02119:Top2b	APN	14	16406733	missense	probably damaging	1.00
IGL02136:Top2b	APN	14	16407103	unclassified	probably benign
IGL02148:Top2b	APN	14	16400488	missense	probably damaging	1.00
IGL02496:Top2b	APN	14	16387335	missense	probably benign
IGL02503:Top2b	APN	14	16407163	missense	possibly damaging	0.92
IGL02672:Top2b	APN	14	16409166	unclassified	probably benign
IGL02721:Top2b	APN	14	16409236	missense	probably damaging	1.00
IGL02886:Top2b	APN	14	16365688	missense	possibly damaging	0.73
IGL03252:Top2b	APN	14	16393163	missense	possibly damaging	0.60
PIT4434001:Top2b	UTSW	14	16423780	critical splice donor site	probably null
R0092:Top2b	UTSW	14	16409263	missense	probably damaging	1.00
R0201:Top2b	UTSW	14	16383174	missense	probably damaging	1.00
R0390:Top2b	UTSW	14	16418442	missense	probably benign	0.00
R0394:Top2b	UTSW	14	16413556	splice site	probably null
R1159:Top2b	UTSW	14	16430329	missense	possibly damaging	0.81
R1424:Top2b	UTSW	14	16383177	missense	probably damaging	1.00
R1519:Top2b	UTSW	14	16408953	splice site	probably null
R1561:Top2b	UTSW	14	16398993	missense	possibly damaging	0.80
R1713:Top2b	UTSW	14	16409823	missense	probably benign	0.05
R1987:Top2b	UTSW	14	16398916	missense	probably damaging	0.99
R2219:Top2b	UTSW	14	16409189	missense	probably damaging	1.00
R2287:Top2b	UTSW	14	16409189	missense	probably damaging	1.00
R2422:Top2b	UTSW	14	16409189	missense	probably damaging	1.00
R2679:Top2b	UTSW	14	16413947	missense	probably damaging	1.00
R3687:Top2b	UTSW	14	16409189	missense	probably damaging	1.00
R3707:Top2b	UTSW	14	16388447	missense	probably damaging	1.00
R3810:Top2b	UTSW	14	16409189	missense	probably damaging	1.00
R3812:Top2b	UTSW	14	16409189	missense	probably damaging	1.00
R3815:Top2b	UTSW	14	16409189	missense	probably damaging	1.00
R3816:Top2b	UTSW	14	16409189	missense	probably damaging	1.00
R3818:Top2b	UTSW	14	16409189	missense	probably damaging	1.00
R4023:Top2b	UTSW	14	16409189	missense	probably damaging	1.00
R4025:Top2b	UTSW	14	16409189	missense	probably damaging	1.00
R4026:Top2b	UTSW	14	16409189	missense	probably damaging	1.00
R4133:Top2b	UTSW	14	16409189	missense	probably damaging	1.00
R4157:Top2b	UTSW	14	16384491	missense	probably benign	0.42
R4179:Top2b	UTSW	14	16409189	missense	probably damaging	1.00
R4180:Top2b	UTSW	14	16409189	missense	probably damaging	1.00
R4300:Top2b	UTSW	14	16409189	missense	probably damaging	1.00
R4376:Top2b	UTSW	14	16409189	missense	probably damaging	1.00
R4377:Top2b	UTSW	14	16409189	missense	probably damaging	1.00
R4492:Top2b	UTSW	14	16409189	missense	probably damaging	1.00
R4549:Top2b	UTSW	14	16409189	missense	probably damaging	1.00
R4550:Top2b	UTSW	14	16409189	missense	probably damaging	1.00
R4581:Top2b	UTSW	14	16409189	missense	probably damaging	1.00
R4582:Top2b	UTSW	14	16409189	missense	probably damaging	1.00
R4628:Top2b	UTSW	14	16409189	missense	probably damaging	1.00
R4630:Top2b	UTSW	14	16409189	missense	probably damaging	1.00
R4667:Top2b	UTSW	14	16409189	missense	probably damaging	1.00
R4668:Top2b	UTSW	14	16409189	missense	probably damaging	1.00
R4669:Top2b	UTSW	14	16409189	missense	probably damaging	1.00
R4698:Top2b	UTSW	14	16387331	nonsense	probably null
R4769:Top2b	UTSW	14	16398991	missense	probably damaging	1.00
R4809:Top2b	UTSW	14	16383125	missense	probably benign	0.06
R4899:Top2b	UTSW	14	16387313	missense	probably damaging	1.00
R5035:Top2b	UTSW	14	16409966	missense	probably benign	0.01
R5621:Top2b	UTSW	14	16387280	missense	probably damaging	1.00
R5631:Top2b	UTSW	14	16409882	missense	probably damaging	1.00
R5685:Top2b	UTSW	14	16413666	missense	probably damaging	1.00
R5732:Top2b	UTSW	14	16400106	missense	possibly damaging	0.92
R5939:Top2b	UTSW	14	16422786	missense	probably damaging	0.96
R6007:Top2b	UTSW	14	16423779	critical splice donor site	probably null
R6087:Top2b	UTSW	14	16409864	missense	probably benign	0.14
R6144:Top2b	UTSW	14	16423740	missense	possibly damaging	0.48
R6196:Top2b	UTSW	14	16409189	missense	probably damaging	1.00
R6218:Top2b	UTSW	14	16409189	missense	probably damaging	1.00
R6229:Top2b	UTSW	14	16409838	missense	probably damaging	1.00
R6249:Top2b	UTSW	14	16399006	missense	probably damaging	1.00
R6337:Top2b	UTSW	14	16399026	missense	possibly damaging	0.77
R6353:Top2b	UTSW	14	16416671	missense	probably damaging	1.00
R6512:Top2b	UTSW	14	16409854	missense	possibly damaging	0.94
R6573:Top2b	UTSW	14	16398991	missense	probably damaging	1.00
R6614:Top2b	UTSW	14	16407142	nonsense	probably null
R6844:Top2b	UTSW	14	16429383	missense	possibly damaging	0.94
R6848:Top2b	UTSW	14	16409958	missense	possibly damaging	0.89
R6871:Top2b	UTSW	14	16409189	missense	probably damaging	1.00
R6895:Top2b	UTSW	14	16413604	missense	probably benign	0.06
R7162:Top2b	UTSW	14	16416653	missense	probably benign	0.00
R7247:Top2b	UTSW	14	16416962	missense	probably benign	0.08
R7250:Top2b	UTSW	14	16420411	missense	probably benign
R7359:Top2b	UTSW	14	16407376	missense	probably null	1.00
R7365:Top2b	UTSW	14	16416649	missense	probably benign	0.04
R7493:Top2b	UTSW	14	16416605	missense	probably benign	0.00
R7528:Top2b	UTSW	14	16395427	nonsense	probably null
R7562:Top2b	UTSW	14	16412946	missense	probably benign	0.04
R7594:Top2b	UTSW	14	16428587	missense	probably benign
R7670:Top2b	UTSW	14	16416620	missense	possibly damaging	0.61
R7894:Top2b	UTSW	14	16413081	missense	possibly damaging	0.68
R8031:Top2b	UTSW	14	16412986	missense	probably damaging	0.98
R8150:Top2b	UTSW	14	16393291	missense	probably damaging	0.99
R8214:Top2b	UTSW	14	16383177	missense	probably damaging	1.00
R8299:Top2b	UTSW	14	16386123	missense	possibly damaging	0.68
R8977:Top2b	UTSW	14	16393239	missense	probably benign	0.36
R9562:Top2b	UTSW	14	16365718	missense	probably benign	0.09
R9798:Top2b	UTSW	14	16389845	missense	probably damaging	1.00
X0028:Top2b	UTSW	14	16384499	nonsense	probably null
Z1176:Top2b	UTSW	14	16395434	missense	probably damaging	1.00
Z1177:Top2b	UTSW	14	16416953	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- TAGTCCTCGACCACTCTGTAGG -3'
(R):5'- TGAGCATTGTTCAGCAGCC -3'

Sequencing Primer
(F):5'- CGCGCTCGAGTTTGAGG -3'
(R):5'- TCAGCAGCCTGAGCCTTG -3'

Posted On

2022-08-09