Mutagenetix > Incidental Mutation

Incidental Mutation 'R4923:Topbp1'

378793

Institutional Source

Beutler Lab

Gene Symbol

Topbp1

Ensembl Gene

ENSMUSG00000032555

Gene Name

topoisomerase (DNA) II binding protein 1

Synonyms

1110031N14Rik, 2810429C13Rik, D430026L04Rik

MMRRC Submission

042525-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4923 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

103182414-103227627 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 103190035 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 204 (I204V)

Ref Sequence

ENSEMBL: ENSMUSP00000035164 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000035164] [ENSMUST00000187065]

AlphaFold

Q6ZQF0

Predicted Effect

probably benign
Transcript: ENSMUST00000035164
AA Change: I204V

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000035164
Gene: ENSMUSG00000032555
AA Change: I204V

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: ENSMUST00000187065

SMART Domains

Protein: ENSMUSP00000139773
Gene: ENSMUSG00000032555

Domain	Start	End	E-Value	Type
PDB:2XNH\|A	1	130	2e-81	PDB
Blast:BRCT	6	91	8e-58	BLAST
Blast:BRCT	103	130	2e-11	BLAST

Meta Mutation Damage Score

0.0595

Coding Region Coverage

1x: 99.0%
3x: 98.2%
10x: 96.0%
20x: 91.3%

Validation Efficiency

98% (107/109)

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: 95 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aim2	A	G	1: 173,287,372 (GRCm39)	D124G	probably benign	Het
Akr1c6	T	C	13: 4,504,494 (GRCm39)	M293T	probably damaging	Het
Albfm1	A	G	5: 90,709,158 (GRCm39)	T23A	probably benign	Het
Ankhd1	A	G	18: 36,722,505 (GRCm39)	T343A	probably damaging	Het
Ano2	T	C	6: 125,880,018 (GRCm39)		probably benign	Het
Arfgap2	G	A	2: 91,104,004 (GRCm39)	G353R	probably damaging	Het
Armc3	A	G	2: 19,297,791 (GRCm39)		probably null	Het
Atp11b	T	C	3: 35,889,528 (GRCm39)		probably null	Het
Brd4	A	G	17: 32,418,214 (GRCm39)	M13T	probably benign	Het
Btd	T	A	14: 31,384,044 (GRCm39)	M10K	possibly damaging	Het
C1s2	T	C	6: 124,602,649 (GRCm39)	K515E	probably benign	Het
Cars1	A	T	7: 143,123,587 (GRCm39)	Y455N	probably damaging	Het
Ccdc110	A	G	8: 46,396,460 (GRCm39)	S784G	probably benign	Het
Chic2	A	G	5: 75,171,872 (GRCm39)		probably benign	Het
Chka	A	T	19: 3,942,105 (GRCm39)		probably null	Het
Chrne	A	G	11: 70,506,101 (GRCm39)	I420T	possibly damaging	Het
Clstn1	T	C	4: 149,729,486 (GRCm39)	V747A	probably benign	Het
Cobll1	A	G	2: 64,929,602 (GRCm39)	S575P	possibly damaging	Het
Col6a6	A	T	9: 105,666,147 (GRCm39)	L3Q	probably damaging	Het
Comtd1	A	T	14: 21,898,813 (GRCm39)		probably benign	Het
Cpsf2	T	C	12: 101,948,243 (GRCm39)	V13A	probably benign	Het
Creb3l4	T	A	3: 90,149,521 (GRCm39)	I115L	probably benign	Het
Cyp2j12	C	T	4: 95,990,346 (GRCm39)	A407T	possibly damaging	Het
Ddr2	A	G	1: 169,825,498 (GRCm39)		probably null	Het
Dennd4c	T	C	4: 86,725,775 (GRCm39)	L743P	probably damaging	Het
Egfl8	T	C	17: 34,833,171 (GRCm39)	T192A	probably benign	Het
Elapor1	C	T	3: 108,379,284 (GRCm39)		probably null	Het
Elf3	A	G	1: 135,184,473 (GRCm39)		probably benign	Het
Entrep2	A	G	7: 64,417,439 (GRCm39)	S322P	probably benign	Het
Etv3	T	G	3: 87,443,223 (GRCm39)	L269R	possibly damaging	Het
Fah	C	A	7: 84,251,260 (GRCm39)		probably benign	Het
Fbll1	C	A	11: 35,688,407 (GRCm39)	L285F	probably benign	Het
Fcrla	A	T	1: 170,748,682 (GRCm39)	F154I	probably damaging	Het
Fnip2	T	A	3: 79,396,701 (GRCm39)		probably null	Het
Focad	T	C	4: 88,115,083 (GRCm39)		probably benign	Het
Gabrr1	T	A	4: 33,162,820 (GRCm39)	I462N	possibly damaging	Het
Gm57859	C	A	11: 113,579,805 (GRCm39)	T400K	probably benign	Het
Gnptab	A	G	10: 88,265,485 (GRCm39)	T366A	probably benign	Het
Hnrnpu	G	A	1: 178,159,017 (GRCm39)		probably benign	Het
Il17ra	T	A	6: 120,454,406 (GRCm39)	V299E	possibly damaging	Het
Impg1	G	A	9: 80,252,360 (GRCm39)	Q607*	probably null	Het
Impg1	T	A	9: 80,252,827 (GRCm39)	E374V	probably damaging	Het
Itgax	C	T	7: 127,747,700 (GRCm39)	L1039F	probably benign	Het
Kcnk2	A	T	1: 189,072,133 (GRCm39)	V65D	probably damaging	Het
Kif20b	A	C	19: 34,918,611 (GRCm39)		probably null	Het
Krt9	TCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCC	TCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCC	11: 100,079,903 (GRCm39)		probably benign	Het
Lama5	T	G	2: 179,825,942 (GRCm39)	I2372L	probably benign	Het
Lilrb4a	A	G	10: 51,368,139 (GRCm39)	T85A	possibly damaging	Het
Mapk13	C	A	17: 28,997,197 (GRCm39)	H330N	probably benign	Het
Mars1	C	A	10: 127,132,549 (GRCm39)		probably benign	Het
Mdga1	C	A	17: 30,057,052 (GRCm39)	R818L	probably damaging	Het
Mdn1	T	A	4: 32,671,608 (GRCm39)	L476Q	possibly damaging	Het
Mup21	T	C	4: 62,066,202 (GRCm39)	E178G	probably benign	Het
Myg1	A	G	15: 102,240,288 (GRCm39)	N38S	probably benign	Het
Ncam1	A	T	9: 49,416,779 (GRCm39)	D837E	probably benign	Het
Ncam2	C	T	16: 81,386,679 (GRCm39)	P686L	possibly damaging	Het
Nck2	T	C	1: 43,500,231 (GRCm39)		probably benign	Het
Nfya	T	C	17: 48,707,563 (GRCm39)		probably benign	Het
Npat	A	G	9: 53,482,330 (GRCm39)	K1346R	probably damaging	Het
Odad2	C	G	18: 7,181,787 (GRCm39)	D846H	probably damaging	Het
Or12j3	G	T	7: 139,952,920 (GRCm39)	T201K	probably benign	Het
Or4a72	T	C	2: 89,406,023 (GRCm39)	T16A	probably damaging	Het
Or6c212	A	G	10: 129,558,681 (GRCm39)	V244A	probably benign	Het
Pde7b	G	T	10: 20,288,873 (GRCm39)	Q325K	probably damaging	Het
Pla2r1	A	T	2: 60,253,056 (GRCm39)	M1345K	probably benign	Het
Prkcz	T	C	4: 155,441,946 (GRCm39)	D62G	probably damaging	Het
Pros1	T	A	16: 62,723,935 (GRCm39)	C228S	possibly damaging	Het
Ptprc	A	G	1: 138,006,236 (GRCm39)	M782T	possibly damaging	Het
Rcn1	T	C	2: 105,219,518 (GRCm39)	D225G	probably benign	Het
Recql4	G	A	15: 76,594,381 (GRCm39)	R46C	probably damaging	Het
Rnf220	C	T	4: 117,346,797 (GRCm39)	R205Q	possibly damaging	Het
Samd13	T	C	3: 146,368,502 (GRCm39)	D11G	probably benign	Het
Scp2d1	T	A	2: 144,666,030 (GRCm39)	I123K	probably benign	Het
Skap1	A	T	11: 96,644,870 (GRCm39)	Y311F	probably damaging	Het
Slc2a10	T	C	2: 165,356,676 (GRCm39)	I112T	possibly damaging	Het
Slc34a1	G	A	13: 24,003,078 (GRCm39)	V243M	probably benign	Het
Slc39a2	G	A	14: 52,132,711 (GRCm39)	G218D	probably damaging	Het
Sos1	T	C	17: 80,742,381 (GRCm39)	N382S	probably benign	Het
Spam1	C	T	6: 24,796,655 (GRCm39)	T202I	probably damaging	Het
Tas2r138	T	A	6: 40,589,820 (GRCm39)	Q142L	possibly damaging	Het
Tec	T	A	5: 72,939,365 (GRCm39)	R217*	probably null	Het
Tmeff2	T	A	1: 50,969,804 (GRCm39)	V90D	probably benign	Het
Tmem119	T	C	5: 113,933,405 (GRCm39)	Y132C	probably damaging	Het
Trappc14	A	T	5: 138,260,641 (GRCm39)		probably benign	Het
Ttn	A	T	2: 76,601,232 (GRCm39)	I17001N	probably damaging	Het
Vit	T	A	17: 78,894,270 (GRCm39)	M224K	probably benign	Het
Vmn1r179	T	G	7: 23,628,491 (GRCm39)	H227Q	possibly damaging	Het
Vmn1r84	T	C	7: 12,095,743 (GRCm39)	N305D	probably benign	Het
Vmn2r61	A	G	7: 41,916,520 (GRCm39)	N378D	probably damaging	Het
Vmn2r87	A	G	10: 130,314,435 (GRCm39)	Y384H	probably damaging	Het
Wiz	C	T	17: 32,580,570 (GRCm39)	A294T	probably benign	Het
Xdh	C	A	17: 74,231,931 (GRCm39)	V260L	possibly damaging	Het
Xirp2	A	G	2: 67,343,237 (GRCm39)	K1826R	probably benign	Het
Zfp445	A	C	9: 122,681,358 (GRCm39)	I861R	probably benign	Het
Zfp691	T	C	4: 119,027,999 (GRCm39)	T78A	probably benign	Het

Other mutations in Topbp1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00228:Topbp1	APN	9	103,222,142 (GRCm39)	missense	probably benign
IGL01524:Topbp1	APN	9	103,188,844 (GRCm39)	missense	possibly damaging	0.92
IGL02335:Topbp1	APN	9	103,205,722 (GRCm39)	missense	probably damaging	1.00
IGL02441:Topbp1	APN	9	103,197,438 (GRCm39)	missense	possibly damaging	0.49
IGL02943:Topbp1	APN	9	103,205,639 (GRCm39)	missense	probably benign	0.00
IGL02953:Topbp1	APN	9	103,205,634 (GRCm39)	missense	probably benign	0.26
IGL03040:Topbp1	APN	9	103,205,866 (GRCm39)	missense	possibly damaging	0.51
PIT4377001:Topbp1	UTSW	9	103,187,088 (GRCm39)	missense	possibly damaging	0.90
R0044:Topbp1	UTSW	9	103,202,972 (GRCm39)	missense	possibly damaging	0.94
R0344:Topbp1	UTSW	9	103,185,932 (GRCm39)	splice site	probably benign
R0344:Topbp1	UTSW	9	103,205,886 (GRCm39)	missense	probably damaging	0.99
R0591:Topbp1	UTSW	9	103,227,037 (GRCm39)	missense	probably benign	0.01
R0666:Topbp1	UTSW	9	103,186,011 (GRCm39)	missense	probably benign
R0785:Topbp1	UTSW	9	103,192,289 (GRCm39)	missense	probably damaging	1.00
R0906:Topbp1	UTSW	9	103,205,792 (GRCm39)	missense	probably benign	0.00
R1352:Topbp1	UTSW	9	103,224,207 (GRCm39)	missense	probably benign
R1745:Topbp1	UTSW	9	103,186,044 (GRCm39)	missense	probably benign	0.36
R2104:Topbp1	UTSW	9	103,195,181 (GRCm39)	splice site	probably benign
R2166:Topbp1	UTSW	9	103,190,128 (GRCm39)	splice site	probably null
R2230:Topbp1	UTSW	9	103,223,047 (GRCm39)	missense	probably damaging	1.00
R2967:Topbp1	UTSW	9	103,219,339 (GRCm39)	missense	probably benign	0.01
R3845:Topbp1	UTSW	9	103,187,122 (GRCm39)	missense	possibly damaging	0.87
R4089:Topbp1	UTSW	9	103,201,700 (GRCm39)	critical splice donor site	probably null
R4110:Topbp1	UTSW	9	103,187,158 (GRCm39)	missense	probably damaging	0.98
R4454:Topbp1	UTSW	9	103,222,070 (GRCm39)	missense	probably damaging	1.00
R4521:Topbp1	UTSW	9	103,211,401 (GRCm39)	intron	probably benign
R4745:Topbp1	UTSW	9	103,200,770 (GRCm39)	missense	probably damaging	1.00
R4934:Topbp1	UTSW	9	103,205,568 (GRCm39)	unclassified	probably benign
R4963:Topbp1	UTSW	9	103,197,804 (GRCm39)	missense	probably benign	0.04
R5199:Topbp1	UTSW	9	103,223,871 (GRCm39)	unclassified	probably benign
R5461:Topbp1	UTSW	9	103,192,395 (GRCm39)	missense	probably benign	0.00
R5517:Topbp1	UTSW	9	103,213,313 (GRCm39)	missense	probably benign	0.03
R5563:Topbp1	UTSW	9	103,188,712 (GRCm39)	missense	possibly damaging	0.46
R5564:Topbp1	UTSW	9	103,211,277 (GRCm39)	missense	probably damaging	1.00
R5683:Topbp1	UTSW	9	103,190,003 (GRCm39)	missense	possibly damaging	0.93
R5774:Topbp1	UTSW	9	103,205,698 (GRCm39)	missense	probably benign	0.06
R5785:Topbp1	UTSW	9	103,200,727 (GRCm39)	missense	probably benign	0.00
R6029:Topbp1	UTSW	9	103,222,152 (GRCm39)	missense	probably benign	0.00
R6077:Topbp1	UTSW	9	103,210,189 (GRCm39)	missense	probably damaging	1.00
R6122:Topbp1	UTSW	9	103,224,160 (GRCm39)	missense	probably benign	0.06
R6133:Topbp1	UTSW	9	103,188,963 (GRCm39)	splice site	probably null
R6213:Topbp1	UTSW	9	103,209,950 (GRCm39)	missense	probably benign	0.12
R6773:Topbp1	UTSW	9	103,220,891 (GRCm39)	missense	possibly damaging	0.90
R6922:Topbp1	UTSW	9	103,213,045 (GRCm39)	missense	probably damaging	1.00
R6938:Topbp1	UTSW	9	103,205,753 (GRCm39)	missense	probably damaging	1.00
R7305:Topbp1	UTSW	9	103,205,836 (GRCm39)	missense	probably damaging	1.00
R7419:Topbp1	UTSW	9	103,200,543 (GRCm39)	missense	probably benign
R7517:Topbp1	UTSW	9	103,209,932 (GRCm39)	missense	possibly damaging	0.82
R7605:Topbp1	UTSW	9	103,209,905 (GRCm39)	missense	probably benign	0.41
R7701:Topbp1	UTSW	9	103,210,184 (GRCm39)	missense	probably damaging	0.96
R7741:Topbp1	UTSW	9	103,197,756 (GRCm39)	missense	probably damaging	0.97
R8115:Topbp1	UTSW	9	103,197,740 (GRCm39)	missense	probably benign
R8177:Topbp1	UTSW	9	103,197,740 (GRCm39)	missense	probably benign	0.01
R8269:Topbp1	UTSW	9	103,205,792 (GRCm39)	missense	possibly damaging	0.67
R8446:Topbp1	UTSW	9	103,186,061 (GRCm39)	missense	probably damaging	1.00
R8520:Topbp1	UTSW	9	103,186,176 (GRCm39)	splice site	probably null
R8547:Topbp1	UTSW	9	103,213,264 (GRCm39)	missense	probably benign	0.00
R8549:Topbp1	UTSW	9	103,201,577 (GRCm39)	missense	probably damaging	1.00
R9003:Topbp1	UTSW	9	103,200,727 (GRCm39)	missense	probably benign	0.00
R9006:Topbp1	UTSW	9	103,182,499 (GRCm39)	unclassified	probably benign
R9163:Topbp1	UTSW	9	103,205,767 (GRCm39)	missense	probably benign
R9584:Topbp1	UTSW	9	103,219,242 (GRCm39)	missense	probably damaging	1.00
R9763:Topbp1	UTSW	9	103,223,923 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- TAGATGAGCAGTTAGTGTAATCCTC -3'
(R):5'- GCTTAAACAGGACTTGCACGC -3'

Sequencing Primer
(F):5'- GCAGTTAGTGTAATCCTCAATGTCAG -3'
(R):5'- GCTCAACCACATCTAAGGCATTG -3'

Posted On

2016-04-15