Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01524:Topbp1'

89500

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 #

IGL01524

Quality Score

Status

Chromosome

Chromosomal Location

103182414-103227627 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 103188844 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 172 (I172T)

Ref Sequence

ENSEMBL: ENSMUSP00000035164 (fasta)

Gene Model

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

AlphaFold

Q6ZQF0

Predicted Effect

possibly damaging
Transcript: ENSMUST00000035164
AA Change: I172T

PolyPhen 2 Score 0.915 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000035164
Gene: ENSMUSG00000032555
AA Change: I172T

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

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: 33 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadat	A	T	8: 60,969,106 (GRCm39)	D117V	probably damaging	Het
Abca14	T	C	7: 119,852,644 (GRCm39)	Y870H	possibly damaging	Het
Ankrd36	T	C	11: 5,585,092 (GRCm39)	I301T	probably benign	Het
Atp10b	T	A	11: 43,150,672 (GRCm39)	S1457T	probably benign	Het
Bltp1	A	G	3: 36,996,531 (GRCm39)	D1081G	possibly damaging	Het
Ccdc175	G	A	12: 72,177,916 (GRCm39)		probably benign	Het
Ccdc93	A	G	1: 121,389,628 (GRCm39)	K224E	probably benign	Het
Cep131	C	T	11: 119,956,786 (GRCm39)	A886T	probably damaging	Het
Clip1	A	C	5: 123,717,442 (GRCm39)	H1282Q	probably damaging	Het
Ctcfl	T	G	2: 172,959,177 (GRCm39)	D183A	probably benign	Het
Cyp17a1	C	T	19: 46,659,495 (GRCm39)	V112I	probably benign	Het
Fhod3	T	C	18: 25,263,659 (GRCm39)	I1521T	probably damaging	Het
Gipc2	A	G	3: 151,843,214 (GRCm39)	I141T	probably damaging	Het
Glo1	T	C	17: 30,815,393 (GRCm39)	R141G	possibly damaging	Het
Ipmk	C	A	10: 71,208,631 (GRCm39)	A140E	probably damaging	Het
Kynu	A	G	2: 43,561,394 (GRCm39)	D310G	possibly damaging	Het
Myo1f	T	A	17: 33,798,857 (GRCm39)	I174N	probably damaging	Het
Nat10	T	A	2: 103,588,102 (GRCm39)	N8Y	probably damaging	Het
Nhlrc2	A	G	19: 56,564,587 (GRCm39)	I304V	probably benign	Het
Pdk4	T	C	6: 5,491,979 (GRCm39)	H31R	probably damaging	Het
Sema6d	T	C	2: 124,505,995 (GRCm39)	V644A	possibly damaging	Het
Slc30a4	T	A	2: 122,544,308 (GRCm39)	K11N	possibly damaging	Het
Slc6a3	T	C	13: 73,686,668 (GRCm39)	S12P	probably benign	Het
Spats2	C	T	15: 99,110,127 (GRCm39)	A508V	probably benign	Het
Tinag	A	G	9: 76,952,820 (GRCm39)	Y55H	probably damaging	Het
Trim17	A	G	11: 58,861,423 (GRCm39)	T279A	probably damaging	Het
Vmn1r216	C	A	13: 23,283,519 (GRCm39)	N67K	probably benign	Het
Washc4	T	C	10: 83,411,996 (GRCm39)	L709P	probably benign	Het
Xdh	T	C	17: 74,230,132 (GRCm39)		probably null	Het
Zfhx4	C	T	3: 5,309,036 (GRCm39)	P754L	probably damaging	Het
Zfp267	T	C	3: 36,218,729 (GRCm39)	Y251H	possibly damaging	Het
Zfp623	C	A	15: 75,819,528 (GRCm39)	S161R	probably benign	Het
Zmat3	G	A	3: 32,395,827 (GRCm39)	R227C	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
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
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

2013-12-03