Mutagenetix > Incidental Mutation

Incidental Mutation 'R0785:Topbp1'

76823

Institutional Source

Beutler Lab

Gene Symbol

Topbp1

Ensembl Gene

ENSMUSG00000032555

Gene Name

topoisomerase (DNA) II binding protein 1

Synonyms

1110031N14Rik, 2810429C13Rik, D430026L04Rik

MMRRC Submission

038965-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0785 (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 103192289 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Arginine at position 260 (H260R)

Ref Sequence

ENSEMBL: ENSMUSP00000035164 (fasta)

Gene Model

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

AlphaFold

Q6ZQF0

Predicted Effect

probably damaging
Transcript: ENSMUST00000035164
AA Change: H260R

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000035164
Gene: ENSMUSG00000032555
AA Change: H260R

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

0.2954

Coding Region Coverage

1x: 99.1%
3x: 98.2%
10x: 95.1%
20x: 87.1%

Validation Efficiency

100% (36/36)

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: 33 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca14	G	A	7: 119,893,380 (GRCm39)	G1277R	probably damaging	Het
Adam10	A	G	9: 70,675,170 (GRCm39)	E593G	possibly damaging	Het
Adh6a	T	C	3: 138,034,829 (GRCm39)		probably benign	Het
Akap6	T	A	12: 52,933,405 (GRCm39)	I299N	probably benign	Het
Bltp1	T	C	3: 37,013,483 (GRCm39)		probably benign	Het
Bod1l	A	T	5: 41,977,359 (GRCm39)	N1318K	probably benign	Het
Ccdc121rt2	A	G	5: 112,598,434 (GRCm39)	D327G	probably benign	Het
Eif2b2	C	A	12: 85,268,335 (GRCm39)	T170K	probably damaging	Het
Ermard	T	A	17: 15,242,239 (GRCm39)	H138Q	probably damaging	Het
Ern2	A	T	7: 121,770,884 (GRCm39)		probably null	Het
Fkbp11	T	C	15: 98,624,430 (GRCm39)	K108R	probably damaging	Het
Golgb1	A	G	16: 36,719,152 (GRCm39)	K353E	possibly damaging	Het
Hipk1	G	T	3: 103,661,641 (GRCm39)		probably null	Het
Itga4	A	G	2: 79,119,649 (GRCm39)	D485G	possibly damaging	Het
Krt1c	C	A	15: 101,726,356 (GRCm39)	G61C	unknown	Het
Med12l	T	A	3: 59,168,253 (GRCm39)	L1561Q	probably damaging	Het
Mtmr14	T	C	6: 113,254,908 (GRCm39)		probably null	Het
Myorg	A	G	4: 41,497,539 (GRCm39)	V697A	probably benign	Het
Naip1	A	G	13: 100,559,584 (GRCm39)	M1140T	probably benign	Het
Naip1	C	T	13: 100,559,593 (GRCm39)	R1137Q	probably benign	Het
Nav2	T	A	7: 49,070,081 (GRCm39)	H251Q	probably benign	Het
Nphp4	A	G	4: 152,646,566 (GRCm39)	D1366G	possibly damaging	Het
Or2b7	A	G	13: 21,739,958 (GRCm39)	V78A	probably benign	Het
Or6c75	A	G	10: 129,336,750 (GRCm39)		probably null	Het
Pde6c	A	C	19: 38,121,628 (GRCm39)	M79L	probably benign	Het
Pld5	C	T	1: 175,803,018 (GRCm39)		probably benign	Het
Polr1g	G	C	7: 19,091,210 (GRCm39)	S299C	probably benign	Het
Rps6kc1	A	G	1: 190,541,142 (GRCm39)	V387A	probably damaging	Het
Tas2r136	T	C	6: 132,754,890 (GRCm39)	D79G	probably benign	Het
Tmem243	A	T	5: 9,168,488 (GRCm39)	K90I	probably damaging	Het
Trappc1	A	G	11: 69,215,636 (GRCm39)		probably benign	Het
Vmn2r125	C	A	4: 156,703,396 (GRCm39)	A258D	probably benign	Het
Zfp300	T	C	X: 20,949,164 (GRCm39)	Y200C	possibly damaging	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
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
R4923:Topbp1	UTSW	9	103,190,035 (GRCm39)	missense	probably benign	0.00
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

Posted On

2013-10-16