Mutagenetix > Incidental Mutation

Incidental Mutation 'R6029:Topbp1'

480270

Institutional Source

Beutler Lab

Gene Symbol

Topbp1

Ensembl Gene

ENSMUSG00000032555

Gene Name

topoisomerase (DNA) II binding protein 1

Synonyms

1110031N14Rik, 2810429C13Rik, D430026L04Rik

MMRRC Submission

044201-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6029 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

103182414-103227627 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 103222152 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Leucine at position 1341 (Q1341L)

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: Q1341L

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000035164
Gene: ENSMUSG00000032555
AA Change: Q1341L

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

Meta Mutation Damage Score

0.1062

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.7%
20x: 92.7%

Validation Efficiency

97% (87/90)

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: 90 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932414N04Rik	G	A	2: 68,524,370 (GRCm39)		probably null	Het
Adi1	G	A	12: 28,729,318 (GRCm39)		probably benign	Het
Afg3l2	G	T	18: 67,554,329 (GRCm39)	L458M	probably damaging	Het
Apob	A	G	12: 8,066,243 (GRCm39)	E4371G	probably damaging	Het
Ash1l	T	C	3: 88,892,326 (GRCm39)	Y1402H	probably damaging	Het
Aspm	T	G	1: 139,408,728 (GRCm39)	C2538W	possibly damaging	Het
Brd10	A	G	19: 29,732,367 (GRCm39)		probably benign	Het
Btbd16	T	C	7: 130,420,802 (GRCm39)	V353A	probably benign	Het
Cad	C	T	5: 31,212,327 (GRCm39)	S10L	possibly damaging	Het
Cdc42bpa	T	C	1: 179,939,352 (GRCm39)	S877P	probably damaging	Het
Cep152	A	T	2: 125,405,552 (GRCm39)	V1660D	probably benign	Het
Clrn2	G	T	5: 45,617,528 (GRCm39)	G133V	probably damaging	Het
Clstn2	T	C	9: 97,338,634 (GRCm39)	I842V	probably benign	Het
Cpt1c	C	T	7: 44,614,548 (GRCm39)	A434T	probably benign	Het
D130052B06Rik	G	T	11: 33,573,477 (GRCm39)	V70L	possibly damaging	Het
Dlg1	T	A	16: 31,612,388 (GRCm39)	V317E	probably damaging	Het
Dock10	T	C	1: 80,514,663 (GRCm39)	E1084G	possibly damaging	Het
Dync2h1	A	G	9: 7,157,646 (GRCm39)	V827A	probably benign	Het
E030030I06Rik	A	G	10: 22,024,832 (GRCm39)	L27P	unknown	Het
Ero1b	T	A	13: 12,589,714 (GRCm39)	L39Q	probably damaging	Het
Erp27	T	C	6: 136,888,609 (GRCm39)	D123G	probably damaging	Het
Fasn	G	T	11: 120,711,735 (GRCm39)	F148L	probably damaging	Het
Fbxl5	T	C	5: 43,922,746 (GRCm39)	E218G	probably damaging	Het
Fbxw28	A	T	9: 109,158,493 (GRCm39)	D210E	probably damaging	Het
Gm10653	T	A	9: 62,748,796 (GRCm39)		probably benign	Het
Gm17067	A	G	7: 42,357,554 (GRCm39)	L316S	probably benign	Het
Gm29106	T	C	1: 118,127,990 (GRCm39)	S561P	probably damaging	Het
Hmcn1	C	A	1: 150,508,188 (GRCm39)	K3699N	probably benign	Het
Itch	T	A	2: 155,021,009 (GRCm39)		probably null	Het
Itpr3	C	T	17: 27,317,145 (GRCm39)	A800V	probably damaging	Het
Kdm2b	A	T	5: 123,017,650 (GRCm39)	M1052K	probably damaging	Het
Kdm4b	T	C	17: 56,703,576 (GRCm39)	M712T	probably damaging	Het
Kmt5b	A	G	19: 3,852,104 (GRCm39)	E137G	probably damaging	Het
Krt33a	G	A	11: 99,903,289 (GRCm39)	T251I	probably benign	Het
Lrrc4b	G	T	7: 44,111,754 (GRCm39)	R542L	probably benign	Het
Macf1	C	A	4: 123,401,126 (GRCm39)	S653I	probably damaging	Het
Macrod2	G	A	2: 142,160,367 (GRCm39)	V408M	probably damaging	Het
Macroh2a2	T	C	10: 61,583,541 (GRCm39)	T200A	possibly damaging	Het
Mapkapk3	G	T	9: 107,166,425 (GRCm39)	A40E	possibly damaging	Het
Mmp20	G	A	9: 7,639,302 (GRCm39)	V157I	probably benign	Het
Mrps28	T	C	3: 8,988,805 (GRCm39)	R18G	possibly damaging	Het
Msrb2	T	A	2: 19,399,122 (GRCm39)	C162S	probably damaging	Het
Naa80	A	G	9: 107,460,753 (GRCm39)	Y216C	probably damaging	Het
Nckap5	T	G	1: 125,953,523 (GRCm39)	T1078P	possibly damaging	Het
Nectin3	T	C	16: 46,256,763 (GRCm39)	Y91C	probably benign	Het
Nf2	G	T	11: 4,734,566 (GRCm39)		probably null	Het
Or10d1b	G	A	9: 39,613,696 (GRCm39)	A123V	probably damaging	Het
Or13a23-ps1	A	T	7: 140,118,789 (GRCm39)	M120L	unknown	Het
Or1e16	AGCGGTCGTAGGC	AGC	11: 73,286,480 (GRCm39)		probably null	Het
Or2y10	A	T	11: 49,455,428 (GRCm39)	I227F	possibly damaging	Het
Or4c29	T	C	2: 88,740,380 (GRCm39)	D119G	probably damaging	Het
Or4g7	T	A	2: 111,309,310 (GRCm39)	Y60*	probably null	Het
Or8b36	ATTGCTGTTT	ATTGCTGTTTGCTGTTT	9: 37,937,836 (GRCm39)		probably null	Het
Oxr1	T	G	15: 41,689,297 (GRCm39)	L507W	probably damaging	Het
Plxna2	A	T	1: 194,481,883 (GRCm39)	K1451M	probably damaging	Het
Plxna2	A	G	1: 194,476,735 (GRCm39)	M1184V	probably benign	Het
Pofut1	G	A	2: 153,101,713 (GRCm39)		probably null	Het
Ppp1r16b	T	C	2: 158,597,137 (GRCm39)	V257A	possibly damaging	Het
Prss56	G	A	1: 87,115,279 (GRCm39)	W498*	probably null	Het
Ptpru	A	G	4: 131,498,604 (GRCm39)	F1329S	probably damaging	Het
Pusl1	A	G	4: 155,973,920 (GRCm39)	F278S	probably damaging	Het
Qars1	A	T	9: 108,390,889 (GRCm39)	L470F	probably damaging	Het
Rbm8a2	T	C	1: 175,806,312 (GRCm39)	D55G	probably benign	Het
Rora	T	A	9: 69,271,734 (GRCm39)	N181K	probably benign	Het
Rufy3	A	G	5: 88,775,114 (GRCm39)	D262G	probably damaging	Het
Sh3gl2	G	A	4: 85,299,651 (GRCm39)	V212M	probably damaging	Het
Sis	G	A	3: 72,835,641 (GRCm39)	T907I	probably benign	Het
Slc38a3	A	T	9: 107,529,374 (GRCm39)	I456N	probably damaging	Het
Slc4a8	T	A	15: 100,705,220 (GRCm39)	C809S	probably benign	Het
Snap91	A	T	9: 86,707,133 (GRCm39)		probably null	Het
Spaca6	A	G	17: 18,051,458 (GRCm39)	T45A	probably benign	Het
Speer1m	A	T	5: 11,970,680 (GRCm39)	L84F	probably damaging	Het
Spry1	T	C	3: 37,696,997 (GRCm39)	I80T	possibly damaging	Het
St8sia2	A	G	7: 73,610,458 (GRCm39)	L275P	possibly damaging	Het
Supt7l	C	A	5: 31,684,331 (GRCm39)		probably null	Het
Tdo2	T	A	3: 81,868,747 (GRCm39)	K304N	probably damaging	Het
Tdrd12	A	T	7: 35,184,655 (GRCm39)	Y753N	probably damaging	Het
Trim14	G	T	4: 46,506,998 (GRCm39)	A406E	probably benign	Het
Trp63	C	T	16: 25,686,964 (GRCm39)	R393W	probably damaging	Het
Trrap	T	C	5: 144,754,489 (GRCm39)	V1932A	possibly damaging	Het
Trrap	T	C	5: 144,762,724 (GRCm39)	M2399T	possibly damaging	Het
Unc45b	A	G	11: 82,804,153 (GRCm39)	N110S	probably damaging	Het
Usp32	G	T	11: 84,916,408 (GRCm39)	H845Q	probably damaging	Het
Usp44	G	A	10: 93,682,494 (GRCm39)	D268N	probably damaging	Het
Vmn1r18	T	G	6: 57,367,451 (GRCm39)	R34S	possibly damaging	Het
Vmn2r103	T	A	17: 20,014,478 (GRCm39)	Y423*	probably null	Het
Wapl	A	T	14: 34,461,204 (GRCm39)	E1054V	possibly damaging	Het
Zbtb8b	A	G	4: 129,322,286 (GRCm39)	Y392H	probably damaging	Het
Zdhhc2	A	T	8: 40,925,968 (GRCm39)	Q321L	probably null	Het
Zfp983	A	G	17: 21,881,401 (GRCm39)	D443G	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
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
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'- GATCTTGGAACGCTGAAGGC -3'
(R):5'- ATAAAGCAGCCCGACCTTG -3'

Sequencing Primer
(F):5'- AGAACTAGTAGATGCCGTTTCTCTC -3'
(R):5'- GCCCGACCTTGCAGACTTTG -3'

Posted On

2017-06-26