Mutagenetix > Incidental Mutations

Incidental Mutation 'R7605:Topbp1'

588250

Institutional Source

Beutler Lab

Gene Symbol

Topbp1

Ensembl Gene

ENSMUSG00000032555

Gene Name

topoisomerase (DNA) II binding protein 1

Synonyms

D430026L04Rik, 2810429C13Rik, 1110031N14Rik

MMRRC Submission

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R7605 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

103305215-103350428 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 103332706 bp

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 851 (T851S)

Ref Sequence

ENSEMBL: ENSMUSP00000035164 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000035164]

Predicted Effect

probably benign
Transcript: ENSMUST00000035164
AA Change: T851S

PolyPhen 2 Score 0.408 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000035164
Gene: ENSMUSG00000032555
AA Change: T851S

Domain	Start	End	E-Value	Type
BRCT	6	91	3.04e1	SMART
BRCT	103	179	1.51e-13	SMART
BRCT	197	274	4.69e-19	SMART
BRCT	355	433	3.58e-15	SMART
BRCT	553	626	5.57e-3	SMART
BRCT	646	731	1.53e-9	SMART
BRCT	904	983	3.48e-13	SMART
low complexity region	1097	1106	N/A	INTRINSIC
low complexity region	1110	1121	N/A	INTRINSIC
low complexity region	1213	1218	N/A	INTRINSIC
BRCT	1258	1337	2.31e-9	SMART
Blast:BRCT	1387	1472	4e-52	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000185721

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.2%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a binding protein which interacts with the C-terminal region of topoisomerase II beta. This interaction suggests a supportive role for this protein in the catalytic reactions of topoisomerase II beta through transient breakages of DNA strands. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele die around implantation due to embryonic growth arrest, increased apoptosis, and decreased cell proliferation. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb5	A	G	12: 118,918,164	L610P	probably damaging	Het
Acta2	G	A	19: 34,252,531	T8I	probably benign	Het
Asphd2	A	G	5: 112,391,941	W9R	probably damaging	Het
Blvrb	T	A	7: 27,465,793	H179Q	probably damaging	Het
Capn13	A	T	17: 73,345,137		probably null	Het
Casp6	A	T	3: 129,912,163	M160L	probably benign	Het
Chordc1	A	G	9: 18,304,372	E140G	probably benign	Het
Col24a1	A	T	3: 145,538,687	Y1572F	possibly damaging	Het
Cul9	A	G	17: 46,541,732	S235P	probably damaging	Het
Cyp2u1	A	T	3: 131,297,953	M306K	probably damaging	Het
Dhx33	A	G	11: 70,999,473	L240P	probably damaging	Het
Dna2	T	A	10: 62,960,275	D494E	probably benign	Het
Dnah7c	C	T	1: 46,632,310	R1620C	probably damaging	Het
Dpp8	G	A	9: 65,054,958	V427M	probably benign	Het
Dpt	G	A	1: 164,796,831	G34S	unknown	Het
Emb	T	A	13: 117,264,510	N198K	probably damaging	Het
Entpd5	T	G	12: 84,396,708	H62P	probably damaging	Het
Ep300	A	C	15: 81,621,152	M658L	unknown	Het
Epb41l4a	T	A	18: 33,797,451	D651V	probably damaging	Het
Epha7	C	T	4: 28,871,937	S422L	probably benign	Het
Ephb2	A	T	4: 136,771,108	V220E	probably damaging	Het
Fam187a	T	A	11: 102,886,048	L226H	possibly damaging	Het
Fbxo42	G	A	4: 141,199,818	A470T	probably benign	Het
Fcgrt	C	T	7: 45,095,251	W264*	probably null	Het
Flt3	A	C	5: 147,349,576	H733Q	probably benign	Het
Gabrr2	A	G	4: 33,082,560	D228G	probably damaging	Het
Gars	T	C	6: 55,077,750	S681P	probably damaging	Het
Gata2	T	C	6: 88,200,408	V140A	possibly damaging	Het
Gm8232	A	T	14: 44,434,927	N100I		Het
Grik4	A	G	9: 42,688,071	C37R	probably damaging	Het
Grm8	T	C	6: 27,618,679	E388G	probably damaging	Het
Hivep3	CGG	CG	4: 120,097,911		probably null	Het
Igsf9b	C	T	9: 27,323,312	T491I	probably damaging	Het
Impa1	C	T	3: 10,324,087	V105I	probably damaging	Het
Inf2	A	G	12: 112,601,337	T134A	probably damaging	Het
Itgb4	T	A	11: 116,006,476	V1521E	probably benign	Het
Iws1	T	A	18: 32,089,487	D623E	probably benign	Het
Lhfpl5	T	C	17: 28,576,331	S111P	possibly damaging	Het
Lyzl1	T	C	18: 4,169,244	C83R	probably damaging	Het
Madd	G	A	2: 91,169,710	T617M	possibly damaging	Het
Magi2	A	G	5: 20,228,385	T163A	probably damaging	Het
Mdn1	C	A	4: 32,694,599	H1107Q	probably damaging	Het
Mfsd14b	A	T	13: 65,066,777	Y454N	probably benign	Het
Mrgprb3	T	A	7: 48,643,114	I230F	probably benign	Het
Mroh2b	C	T	15: 4,945,023	L1162F	probably damaging	Het
Olfr1019	A	G	2: 85,841,039	F251L	probably benign	Het
Olfr170	T	C	16: 19,606,272	Y131C	probably damaging	Het
Olfr266	G	T	3: 106,822,021	H179Q	probably damaging	Het
Olfr311	A	G	11: 58,841,500	I129V	probably benign	Het
Olfr560	C	T	7: 102,753,745	M61I	probably benign	Het
Olfr631	T	C	7: 103,928,868	L15P	probably damaging	Het
Pclo	T	C	5: 14,679,036	L2636P	unknown	Het
Pfkm	G	A	15: 98,121,310	A181T	probably damaging	Het
Pik3r1	C	T	13: 101,702,838	A169T	probably benign	Het
R3hdml	T	A	2: 163,495,768	M114K	probably damaging	Het
Robo1	C	A	16: 73,024,301	R1310S	probably benign	Het
Scnm1	A	T	3: 95,132,875	N115K	probably benign	Het
Sfn	A	G	4: 133,601,237	V178A	probably damaging	Het
Shank2	C	T	7: 144,091,779	T366I	possibly damaging	Het
Siah1a	T	C	8: 86,725,325	D177G	probably damaging	Het
Slc37a2	A	C	9: 37,237,328	I286S	possibly damaging	Het
Smarce1	T	C	11: 99,228,292	T12A	probably benign	Het
Spata31d1c	T	A	13: 65,035,840	S399T	probably benign	Het
Specc1	A	G	11: 62,211,680	S942G	possibly damaging	Het
Syt13	T	C	2: 92,943,133	F164S	probably benign	Het
Ttn	A	T	2: 76,969,671	S398T	unknown	Het
Vmn1r12	T	C	6: 57,159,536	V206A	probably damaging	Het
Vmn1r224	G	A	17: 20,419,959	W266*	probably null	Het
Vmn2r68	T	C	7: 85,233,908	D212G	probably benign	Het
Vps13b	G	T	15: 35,770,646	K2078N	probably damaging	Het
Zfp251	A	C	15: 76,854,357	F179V	possibly damaging	Het

Other mutations in Topbp1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00228:Topbp1	APN	9	103344943	missense	probably benign
IGL01524:Topbp1	APN	9	103311645	missense	possibly damaging	0.92
IGL02335:Topbp1	APN	9	103328523	missense	probably damaging	1.00
IGL02441:Topbp1	APN	9	103320239	missense	possibly damaging	0.49
IGL02943:Topbp1	APN	9	103328440	missense	probably benign	0.00
IGL02953:Topbp1	APN	9	103328435	missense	probably benign	0.26
IGL03040:Topbp1	APN	9	103328667	missense	possibly damaging	0.51
PIT4377001:Topbp1	UTSW	9	103309889	missense	possibly damaging	0.90
R0044:Topbp1	UTSW	9	103325773	missense	possibly damaging	0.94
R0344:Topbp1	UTSW	9	103328687	missense	probably damaging	0.99
R0344:Topbp1	UTSW	9	103308733	splice site	probably benign
R0591:Topbp1	UTSW	9	103349838	missense	probably benign	0.01
R0666:Topbp1	UTSW	9	103308812	missense	probably benign
R0785:Topbp1	UTSW	9	103315090	missense	probably damaging	1.00
R0906:Topbp1	UTSW	9	103328593	missense	probably benign	0.00
R1352:Topbp1	UTSW	9	103347008	missense	probably benign
R1745:Topbp1	UTSW	9	103308845	missense	probably benign	0.36
R2104:Topbp1	UTSW	9	103317982	splice site	probably benign
R2166:Topbp1	UTSW	9	103312929	splice site	probably null
R2230:Topbp1	UTSW	9	103345848	missense	probably damaging	1.00
R2967:Topbp1	UTSW	9	103342140	missense	probably benign	0.01
R3845:Topbp1	UTSW	9	103309923	missense	possibly damaging	0.87
R4089:Topbp1	UTSW	9	103324501	critical splice donor site	probably null
R4110:Topbp1	UTSW	9	103309959	missense	probably damaging	0.98
R4454:Topbp1	UTSW	9	103344871	missense	probably damaging	1.00
R4521:Topbp1	UTSW	9	103334202	intron	probably benign
R4745:Topbp1	UTSW	9	103323571	missense	probably damaging	1.00
R4923:Topbp1	UTSW	9	103312836	missense	probably benign	0.00
R4934:Topbp1	UTSW	9	103328369	unclassified	probably benign
R4963:Topbp1	UTSW	9	103320605	missense	probably benign	0.04
R5199:Topbp1	UTSW	9	103346672	unclassified	probably benign
R5461:Topbp1	UTSW	9	103315196	missense	probably benign	0.00
R5517:Topbp1	UTSW	9	103336114	missense	probably benign	0.03
R5563:Topbp1	UTSW	9	103311513	missense	possibly damaging	0.46
R5564:Topbp1	UTSW	9	103334078	missense	probably damaging	1.00
R5683:Topbp1	UTSW	9	103312804	missense	possibly damaging	0.93
R5774:Topbp1	UTSW	9	103328499	missense	probably benign	0.06
R5785:Topbp1	UTSW	9	103323528	missense	probably benign	0.00
R6029:Topbp1	UTSW	9	103344953	missense	probably benign	0.00
R6077:Topbp1	UTSW	9	103332990	missense	probably damaging	1.00
R6122:Topbp1	UTSW	9	103346961	missense	probably benign	0.06
R6133:Topbp1	UTSW	9	103311764	splice site	probably null
R6213:Topbp1	UTSW	9	103332751	missense	probably benign	0.12
R6773:Topbp1	UTSW	9	103343692	missense	possibly damaging	0.90
R6922:Topbp1	UTSW	9	103335846	missense	probably damaging	1.00
R6938:Topbp1	UTSW	9	103328554	missense	probably damaging	1.00
R7305:Topbp1	UTSW	9	103328637	missense	probably damaging	1.00
R7419:Topbp1	UTSW	9	103323344	missense	probably benign
R7517:Topbp1	UTSW	9	103332733	missense	possibly damaging	0.82
R7701:Topbp1	UTSW	9	103332985	missense	probably damaging	0.96
R7741:Topbp1	UTSW	9	103320557	missense	probably damaging	0.97
R8115:Topbp1	UTSW	9	103320541	missense	probably benign
R8177:Topbp1	UTSW	9	103320541	missense	probably benign	0.01
R8269:Topbp1	UTSW	9	103328593	missense	possibly damaging	0.67
R8446:Topbp1	UTSW	9	103308862	missense	probably damaging	1.00
R8547:Topbp1	UTSW	9	103336065	missense	probably benign	0.00
R8549:Topbp1	UTSW	9	103324378	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CTGCTGAAAAGGTAAGTATGCC -3'
(R):5'- TTGACATGCATTAGGGACACC -3'

Sequencing Primer
(F):5'- TATAGTTGTGAGCCACCACG -3'
(R):5'- GGACACCTTCCATTTAATAAGAAAAC -3'

Posted On

2019-10-24