Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03040:Topbp1'

408852

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Topbp1

Ensembl Gene

ENSMUSG00000032555

Gene Name

topoisomerase (DNA) II binding protein 1

Synonyms

1110031N14Rik, 2810429C13Rik, D430026L04Rik

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL03040

Quality Score

Status

Chromosome

Chromosomal Location

103182414-103227627 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 103205866 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Phenylalanine at position 835 (L835F)

Ref Sequence

ENSEMBL: ENSMUSP00000035164 (fasta)

Gene Model

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

AlphaFold

Q6ZQF0

Predicted Effect

possibly damaging
Transcript: ENSMUST00000035164
AA Change: L835F

PolyPhen 2 Score 0.514 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000035164
Gene: ENSMUSG00000032555
AA Change: L835F

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000186897

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000188840

Coding Region Coverage

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: 30 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc9	C	A	6: 142,598,323 (GRCm39)	G672*	probably null	Het
Adamts19	T	A	18: 59,036,080 (GRCm39)	S422T	probably benign	Het
Anapc7	T	A	5: 122,571,450 (GRCm39)	L175*	probably null	Het
Atp13a2	T	C	4: 140,733,484 (GRCm39)	L986P	probably damaging	Het
Atp6v1d	C	A	12: 78,904,122 (GRCm39)		probably benign	Het
Bnip5	A	G	17: 29,134,176 (GRCm39)	M11T	probably benign	Het
Cldn5	A	G	16: 18,596,380 (GRCm39)	Y212C	probably damaging	Het
Dgki	C	A	6: 37,126,599 (GRCm39)		probably benign	Het
Evi5	A	G	5: 107,969,672 (GRCm39)	S80P	probably damaging	Het
Extl1	A	T	4: 134,087,940 (GRCm39)		probably benign	Het
Fam237b	C	A	5: 5,625,566 (GRCm39)	Y87*	probably null	Het
Fbxo38	T	C	18: 62,660,323 (GRCm39)	H296R	probably damaging	Het
Fras1	A	G	5: 96,857,960 (GRCm39)	I2085V	probably benign	Het
Gpd2	A	T	2: 57,245,805 (GRCm39)	E445V	probably benign	Het
Grm8	C	T	6: 28,126,122 (GRCm39)	M1I	probably null	Het
Hnf4g	T	A	3: 3,699,271 (GRCm39)		probably benign	Het
Hspg2	G	A	4: 137,289,136 (GRCm39)		probably null	Het
Kmt2c	T	C	5: 25,515,350 (GRCm39)	Q2831R	probably benign	Het
Nat10	C	A	2: 103,587,610 (GRCm39)		probably benign	Het
Pbx1	C	A	1: 168,255,515 (GRCm39)		probably benign	Het
Prkg2	C	T	5: 99,120,966 (GRCm39)		probably null	Het
Scn10a	T	A	9: 119,452,051 (GRCm39)	I1291F	probably damaging	Het
Sh3tc2	G	A	18: 62,122,481 (GRCm39)	G414D	probably benign	Het
Syn2	C	T	6: 115,240,926 (GRCm39)	T432I	possibly damaging	Het
Tnpo1	T	C	13: 98,996,463 (GRCm39)	E446G	probably damaging	Het
Ubald1	G	T	16: 4,693,626 (GRCm39)	S96R	possibly damaging	Het
Utp6	C	A	11: 79,826,939 (GRCm39)		probably benign	Het
Vmn1r19	C	A	6: 57,382,347 (GRCm39)	P300Q	unknown	Het
Vmn1r220	T	C	13: 23,367,952 (GRCm39)	D248G	possibly damaging	Het
Zglp1	T	A	9: 20,974,622 (GRCm39)	S189C	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
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
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

Posted On

2016-08-02