Mutagenetix > Incidental Mutation

Incidental Mutation 'R4769:Top2b'

366353

Institutional Source

Beutler Lab

Gene Symbol

Top2b

Ensembl Gene

ENSMUSG00000017485

Gene Name

topoisomerase (DNA) II beta

Synonyms

Top-2, D230016L12Rik

Accession Numbers

Essential gene?

Probably essential (E-score: 0.924) question?

Stock #

R4769 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

6038976-6104585 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 16398991 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Glutamine at position 537 (L537Q)

Ref Sequence

ENSEMBL: ENSMUSP00000017629 (fasta)

Gene Model

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

AlphaFold

Q64511

Predicted Effect

probably damaging
Transcript: ENSMUST00000017629
AA Change: L537Q

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000017629
Gene: ENSMUSG00000017485
AA Change: L537Q

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: 99.1%
3x: 98.4%
10x: 96.7%
20x: 93.8%

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, 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: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3425401B19Rik	A	C	14: 32,382,174 (GRCm39)	S1264A	probably benign	Het
Adamts13	T	G	2: 26,898,723 (GRCm39)	Y1361*	probably null	Het
Ahrr	A	T	13: 74,362,331 (GRCm39)	D389E	probably damaging	Het
Alx3	T	C	3: 107,508,007 (GRCm39)	F172S	probably damaging	Het
Antxrl	A	G	14: 33,795,027 (GRCm39)	H485R	possibly damaging	Het
Aox4	A	G	1: 58,298,307 (GRCm39)	D1091G	probably null	Het
Btbd1	T	A	7: 81,455,558 (GRCm39)	Q271L	probably benign	Het
Cd209c	A	T	8: 3,994,953 (GRCm39)	N70K	probably benign	Het
Cdc14a	C	T	3: 116,088,399 (GRCm39)		probably null	Het
Cenpe	A	G	3: 134,953,912 (GRCm39)	M1641V	probably benign	Het
Clec2e	G	A	6: 129,077,790 (GRCm39)	T16I	probably benign	Het
Clp1	T	C	2: 84,556,219 (GRCm39)	D87G	possibly damaging	Het
Dpy19l1	A	T	9: 24,337,444 (GRCm39)	F517I	probably damaging	Het
Dzip3	T	C	16: 48,758,837 (GRCm39)	N646S	probably damaging	Het
Ephx1	T	A	1: 180,823,543 (GRCm39)	Y188F	possibly damaging	Het
Etfa	A	T	9: 55,403,051 (GRCm39)	H81Q	possibly damaging	Het
Gigyf2	T	A	1: 87,368,571 (GRCm39)	F1084I	probably damaging	Het
Heatr3	T	C	8: 88,868,411 (GRCm39)		probably null	Het
Ift81	G	T	5: 122,732,656 (GRCm39)	H293N	probably benign	Het
Igkv9-120	G	T	6: 68,027,351 (GRCm39)	R88S	possibly damaging	Het
Il6	T	G	5: 30,223,076 (GRCm39)	L114*	probably null	Het
Ism2	A	T	12: 87,346,355 (GRCm39)	M42K	probably benign	Het
Lhx5	A	G	5: 120,574,503 (GRCm39)	E269G	probably benign	Het
Marveld1	T	G	19: 42,136,434 (GRCm39)	M116R	possibly damaging	Het
Micall2	A	G	5: 139,692,641 (GRCm39)	S911P	probably damaging	Het
Mier1	G	A	4: 102,997,417 (GRCm39)	R195H	probably benign	Het
Muc2	T	A	7: 141,286,260 (GRCm39)		probably null	Het
Mybbp1a	A	G	11: 72,336,466 (GRCm39)	K486R	probably damaging	Het
Ncapd2	A	C	6: 125,162,708 (GRCm39)	L179R	probably damaging	Het
Nos1	C	T	5: 118,081,310 (GRCm39)	Q1171*	probably null	Het
Nrg1	T	A	8: 32,408,000 (GRCm39)	I78F	probably damaging	Het
Or5d36	T	G	2: 87,901,073 (GRCm39)	T218P	probably benign	Het
Or6y1	T	G	1: 174,276,524 (GRCm39)	F112V	possibly damaging	Het
Plek2	C	T	12: 78,953,664 (GRCm39)		probably null	Het
Plod2	A	G	9: 92,477,325 (GRCm39)	H339R	probably damaging	Het
Pold1	C	T	7: 44,184,495 (GRCm39)	C835Y	probably damaging	Het
Polr1a	A	G	6: 71,927,852 (GRCm39)	I868V	probably benign	Het
Prss54	C	A	8: 96,286,003 (GRCm39)	V357L	probably benign	Het
Rbbp8	T	A	18: 11,855,727 (GRCm39)	S625T	probably damaging	Het
Rgs1	A	T	1: 144,123,667 (GRCm39)	L86Q	probably damaging	Het
Ripk4	T	A	16: 97,545,262 (GRCm39)	N462Y	probably damaging	Het
Rsf1	C	T	7: 97,325,429 (GRCm39)	L1011F	probably damaging	Het
Slc19a3	G	A	1: 82,997,062 (GRCm39)	T382I	probably damaging	Het
Slc9a2	G	A	1: 40,765,534 (GRCm39)	R308Q	probably damaging	Het
Trim45	C	A	3: 100,839,050 (GRCm39)		probably benign	Het
Umodl1	G	T	17: 31,202,976 (GRCm39)	R443M	possibly damaging	Het
Vmn1r11	G	A	6: 57,114,597 (GRCm39)	R87K	probably damaging	Het
Vmn1r78	T	A	7: 11,886,725 (GRCm39)	I112N	probably damaging	Het
Zeb2	T	G	2: 44,886,447 (GRCm39)	E825A	probably damaging	Het
Zfp930	A	T	8: 69,679,344 (GRCm39)	I50F	probably benign	Het

Other mutations in Top2b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00430:Top2b	APN	14	16,422,692 (GRCm38)	missense	probably benign	0.00
IGL00730:Top2b	APN	14	16,389,831 (GRCm38)	missense	probably damaging	1.00
IGL00917:Top2b	APN	14	16,407,354 (GRCm38)	missense	probably benign	0.05
IGL01959:Top2b	APN	14	16,422,695 (GRCm38)	missense	probably benign	0.19
IGL02019:Top2b	APN	14	16,409,965 (GRCm38)	missense	probably benign	0.44
IGL02119:Top2b	APN	14	16,406,733 (GRCm38)	missense	probably damaging	1.00
IGL02136:Top2b	APN	14	16,407,103 (GRCm38)	unclassified	probably benign
IGL02148:Top2b	APN	14	16,400,488 (GRCm38)	missense	probably damaging	1.00
IGL02496:Top2b	APN	14	16,387,335 (GRCm38)	missense	probably benign
IGL02503:Top2b	APN	14	16,407,163 (GRCm38)	missense	possibly damaging	0.92
IGL02672:Top2b	APN	14	16,409,166 (GRCm38)	unclassified	probably benign
IGL02721:Top2b	APN	14	16,409,236 (GRCm38)	missense	probably damaging	1.00
IGL02886:Top2b	APN	14	16,365,688 (GRCm38)	missense	possibly damaging	0.73
IGL03252:Top2b	APN	14	16,393,163 (GRCm38)	missense	possibly damaging	0.60
PIT4434001:Top2b	UTSW	14	16,423,780 (GRCm38)	critical splice donor site	probably null
R0092:Top2b	UTSW	14	16,409,263 (GRCm38)	missense	probably damaging	1.00
R0201:Top2b	UTSW	14	16,383,174 (GRCm38)	missense	probably damaging	1.00
R0390:Top2b	UTSW	14	16,418,442 (GRCm38)	missense	probably benign	0.00
R0394:Top2b	UTSW	14	16,413,556 (GRCm38)	splice site	probably null
R1159:Top2b	UTSW	14	16,430,329 (GRCm38)	missense	possibly damaging	0.81
R1424:Top2b	UTSW	14	16,383,177 (GRCm38)	missense	probably damaging	1.00
R1519:Top2b	UTSW	14	16,408,953 (GRCm38)	splice site	probably null
R1561:Top2b	UTSW	14	16,398,993 (GRCm38)	missense	possibly damaging	0.80
R1713:Top2b	UTSW	14	16,409,823 (GRCm38)	missense	probably benign	0.05
R1987:Top2b	UTSW	14	16,398,916 (GRCm38)	missense	probably damaging	0.99
R2219:Top2b	UTSW	14	16,409,189 (GRCm38)	missense	probably damaging	1.00
R2287:Top2b	UTSW	14	16,409,189 (GRCm38)	missense	probably damaging	1.00
R2422:Top2b	UTSW	14	16,409,189 (GRCm38)	missense	probably damaging	1.00
R2679:Top2b	UTSW	14	16,413,947 (GRCm38)	missense	probably damaging	1.00
R3687:Top2b	UTSW	14	16,409,189 (GRCm38)	missense	probably damaging	1.00
R3707:Top2b	UTSW	14	16,388,447 (GRCm38)	missense	probably damaging	1.00
R3810:Top2b	UTSW	14	16,409,189 (GRCm38)	missense	probably damaging	1.00
R3812:Top2b	UTSW	14	16,409,189 (GRCm38)	missense	probably damaging	1.00
R3815:Top2b	UTSW	14	16,409,189 (GRCm38)	missense	probably damaging	1.00
R3816:Top2b	UTSW	14	16,409,189 (GRCm38)	missense	probably damaging	1.00
R3818:Top2b	UTSW	14	16,409,189 (GRCm38)	missense	probably damaging	1.00
R4023:Top2b	UTSW	14	16,409,189 (GRCm38)	missense	probably damaging	1.00
R4025:Top2b	UTSW	14	16,409,189 (GRCm38)	missense	probably damaging	1.00
R4026:Top2b	UTSW	14	16,409,189 (GRCm38)	missense	probably damaging	1.00
R4133:Top2b	UTSW	14	16,409,189 (GRCm38)	missense	probably damaging	1.00
R4157:Top2b	UTSW	14	16,384,491 (GRCm38)	missense	probably benign	0.42
R4179:Top2b	UTSW	14	16,409,189 (GRCm38)	missense	probably damaging	1.00
R4180:Top2b	UTSW	14	16,409,189 (GRCm38)	missense	probably damaging	1.00
R4300:Top2b	UTSW	14	16,409,189 (GRCm38)	missense	probably damaging	1.00
R4376:Top2b	UTSW	14	16,409,189 (GRCm38)	missense	probably damaging	1.00
R4377:Top2b	UTSW	14	16,409,189 (GRCm38)	missense	probably damaging	1.00
R4492:Top2b	UTSW	14	16,409,189 (GRCm38)	missense	probably damaging	1.00
R4549:Top2b	UTSW	14	16,409,189 (GRCm38)	missense	probably damaging	1.00
R4550:Top2b	UTSW	14	16,409,189 (GRCm38)	missense	probably damaging	1.00
R4581:Top2b	UTSW	14	16,409,189 (GRCm38)	missense	probably damaging	1.00
R4582:Top2b	UTSW	14	16,409,189 (GRCm38)	missense	probably damaging	1.00
R4628:Top2b	UTSW	14	16,409,189 (GRCm38)	missense	probably damaging	1.00
R4630:Top2b	UTSW	14	16,409,189 (GRCm38)	missense	probably damaging	1.00
R4667:Top2b	UTSW	14	16,409,189 (GRCm38)	missense	probably damaging	1.00
R4668:Top2b	UTSW	14	16,409,189 (GRCm38)	missense	probably damaging	1.00
R4669:Top2b	UTSW	14	16,409,189 (GRCm38)	missense	probably damaging	1.00
R4698:Top2b	UTSW	14	16,387,331 (GRCm38)	nonsense	probably null
R4809:Top2b	UTSW	14	16,383,125 (GRCm38)	missense	probably benign	0.06
R4899:Top2b	UTSW	14	16,387,313 (GRCm38)	missense	probably damaging	1.00
R5035:Top2b	UTSW	14	16,409,966 (GRCm38)	missense	probably benign	0.01
R5621:Top2b	UTSW	14	16,387,280 (GRCm38)	missense	probably damaging	1.00
R5631:Top2b	UTSW	14	16,409,882 (GRCm38)	missense	probably damaging	1.00
R5685:Top2b	UTSW	14	16,413,666 (GRCm38)	missense	probably damaging	1.00
R5732:Top2b	UTSW	14	16,400,106 (GRCm38)	missense	possibly damaging	0.92
R5939:Top2b	UTSW	14	16,422,786 (GRCm38)	missense	probably damaging	0.96
R6007:Top2b	UTSW	14	16,423,779 (GRCm38)	critical splice donor site	probably null
R6087:Top2b	UTSW	14	16,409,864 (GRCm38)	missense	probably benign	0.14
R6144:Top2b	UTSW	14	16,423,740 (GRCm38)	missense	possibly damaging	0.48
R6196:Top2b	UTSW	14	16,409,189 (GRCm38)	missense	probably damaging	1.00
R6218:Top2b	UTSW	14	16,409,189 (GRCm38)	missense	probably damaging	1.00
R6229:Top2b	UTSW	14	16,409,838 (GRCm38)	missense	probably damaging	1.00
R6249:Top2b	UTSW	14	16,399,006 (GRCm38)	missense	probably damaging	1.00
R6337:Top2b	UTSW	14	16,399,026 (GRCm38)	missense	possibly damaging	0.77
R6353:Top2b	UTSW	14	16,416,671 (GRCm38)	missense	probably damaging	1.00
R6512:Top2b	UTSW	14	16,409,854 (GRCm38)	missense	possibly damaging	0.94
R6573:Top2b	UTSW	14	16,398,991 (GRCm38)	missense	probably damaging	1.00
R6614:Top2b	UTSW	14	16,407,142 (GRCm38)	nonsense	probably null
R6844:Top2b	UTSW	14	16,429,383 (GRCm38)	missense	possibly damaging	0.94
R6848:Top2b	UTSW	14	16,409,958 (GRCm38)	missense	possibly damaging	0.89
R6871:Top2b	UTSW	14	16,409,189 (GRCm38)	missense	probably damaging	1.00
R6895:Top2b	UTSW	14	16,413,604 (GRCm38)	missense	probably benign	0.06
R7162:Top2b	UTSW	14	16,416,653 (GRCm38)	missense	probably benign	0.00
R7247:Top2b	UTSW	14	16,416,962 (GRCm38)	missense	probably benign	0.08
R7250:Top2b	UTSW	14	16,420,411 (GRCm38)	missense	probably benign
R7359:Top2b	UTSW	14	16,407,376 (GRCm38)	missense	probably null	1.00
R7365:Top2b	UTSW	14	16,416,649 (GRCm38)	missense	probably benign	0.04
R7493:Top2b	UTSW	14	16,416,605 (GRCm38)	missense	probably benign	0.00
R7528:Top2b	UTSW	14	16,395,427 (GRCm38)	nonsense	probably null
R7562:Top2b	UTSW	14	16,412,946 (GRCm38)	missense	probably benign	0.04
R7594:Top2b	UTSW	14	16,428,587 (GRCm38)	missense	probably benign
R7670:Top2b	UTSW	14	16,416,620 (GRCm38)	missense	possibly damaging	0.61
R7894:Top2b	UTSW	14	16,413,081 (GRCm38)	missense	possibly damaging	0.68
R8031:Top2b	UTSW	14	16,412,986 (GRCm38)	missense	probably damaging	0.98
R8150:Top2b	UTSW	14	16,393,291 (GRCm38)	missense	probably damaging	0.99
R8214:Top2b	UTSW	14	16,383,177 (GRCm38)	missense	probably damaging	1.00
R8299:Top2b	UTSW	14	16,386,123 (GRCm38)	missense	possibly damaging	0.68
R8977:Top2b	UTSW	14	16,393,239 (GRCm38)	missense	probably benign	0.36
R9562:Top2b	UTSW	14	16,365,718 (GRCm38)	missense	probably benign	0.09
R9565:Top2b	UTSW	14	16,365,718 (GRCm38)	missense	probably benign	0.09
R9798:Top2b	UTSW	14	16,389,845 (GRCm38)	missense	probably damaging	1.00
X0028:Top2b	UTSW	14	16,384,499 (GRCm38)	nonsense	probably null
Z1176:Top2b	UTSW	14	16,395,434 (GRCm38)	missense	probably damaging	1.00
Z1177:Top2b	UTSW	14	16,416,953 (GRCm38)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- AGAAGCCTCTCATAAACAGGTTTG -3'
(R):5'- CAGAGTTAGATATGTAGCTCAGTGG -3'

Sequencing Primer
(F):5'- TCACATAGGTATCCATGACAGTTC -3'
(R):5'- GCTCAGTGGTAAAACATCTGTCCTG -3'

Posted On

2015-12-21