Mutagenetix > Incidental Mutation

Incidental Mutation 'R2967:Topbp1'

263294

Institutional Source

Beutler Lab

Gene Symbol

Topbp1

Ensembl Gene

ENSMUSG00000032555

Gene Name

topoisomerase (DNA) II binding protein 1

Synonyms

1110031N14Rik, 2810429C13Rik, D430026L04Rik

MMRRC Submission

040523-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R2967 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

103182414-103227627 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 103219339 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Valine at position 1197 (A1197V)

Ref Sequence

ENSEMBL: ENSMUSP00000035164 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000035164] [ENSMUST00000185305]

AlphaFold

Q6ZQF0

Predicted Effect

probably benign
Transcript: ENSMUST00000035164
AA Change: A1197V

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000035164
Gene: ENSMUSG00000032555
AA Change: A1197V

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: ENSMUST00000185305

SMART Domains

Protein: ENSMUSP00000140862
Gene: ENSMUSG00000032555

Domain	Start	End	E-Value	Type
Blast:BRCT	30	59	2e-14	BLAST
PDB:3AL3\|A	32	59	1e-8	PDB

Predicted Effect

probably benign
Transcript: ENSMUST00000185721

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000185972

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000189349

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000190712

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.5%
20x: 95.7%

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: 24 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acacb	A	G	5: 114,304,131 (GRCm39)	S185G	possibly damaging	Het
Adgra1	G	A	7: 139,455,601 (GRCm39)	E410K	possibly damaging	Het
Aox1	A	T	1: 58,361,993 (GRCm39)	N733I	probably damaging	Het
Bola3	T	A	6: 83,326,280 (GRCm39)	Y24N	probably benign	Het
Cntn6	G	A	6: 104,703,198 (GRCm39)	V135I	probably benign	Het
Eif2s3y	A	T	Y: 1,020,030 (GRCm39)	M353L	probably benign	Het
Ercc8	C	A	13: 108,297,248 (GRCm39)	P53T	probably damaging	Het
Gan	A	G	8: 117,910,265 (GRCm39)	K65E	probably damaging	Het
Gm1110	T	C	9: 26,792,339 (GRCm39)	E597G	probably benign	Het
Gsdmc4	T	A	15: 63,773,909 (GRCm39)	H81L	probably benign	Het
Hs2st1	T	A	3: 144,170,899 (GRCm39)	N91I	probably damaging	Het
Or1e31	A	G	11: 73,689,933 (GRCm39)	S217P	possibly damaging	Het
Or7a41	A	T	10: 78,870,887 (GRCm39)	I86F	probably damaging	Het
Pgr	T	C	9: 8,901,819 (GRCm39)	S451P	possibly damaging	Het
Pira13	T	A	7: 3,825,686 (GRCm39)	R394S	probably damaging	Het
Pwp2	A	G	10: 78,018,532 (GRCm39)	L84S	possibly damaging	Het
Rab1a	T	A	11: 20,173,068 (GRCm39)		probably null	Het
Secisbp2	T	C	13: 51,824,915 (GRCm39)	S388P	probably benign	Het
Sh3rf1	C	T	8: 61,679,321 (GRCm39)	P121L	probably benign	Het
Sybu	T	C	15: 44,609,752 (GRCm39)	K172R	probably damaging	Het
Ttf1	T	A	2: 28,955,395 (GRCm39)	V253D	possibly damaging	Het
Ugt2a2	A	T	5: 87,622,488 (GRCm39)	V160E	probably damaging	Het
Vmn1r81	G	T	7: 11,993,964 (GRCm39)	Q215K	probably damaging	Het
Zfp653	A	G	9: 21,977,026 (GRCm39)	L147P	probably 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
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
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

PCR Primer
(F):5'- CCCAGAACGAGCAGATCATTTGG -3'
(R):5'- TGGCCCCAGATTAGATTGTATGG -3'

Sequencing Primer
(F):5'- GCAGATCATTTGGGACGACC -3'
(R):5'- CCCAGATTAGATTGTATGGAGGCTAG -3'

Posted On

2015-02-05