Incidental Mutation 'R5785:Topbp1'
ID 447970
Institutional Source Beutler Lab
Gene Symbol Topbp1
Ensembl Gene ENSMUSG00000032555
Gene Name topoisomerase (DNA) II binding protein 1
Synonyms 1110031N14Rik, 2810429C13Rik, D430026L04Rik
MMRRC Submission 043206-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R5785 (G1)
Quality Score 225
Status Not validated
Chromosome 9
Chromosomal Location 103182414-103227627 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 103200727 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 587 (S587P)
Ref Sequence ENSEMBL: ENSMUSP00000035164 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000035164]
AlphaFold Q6ZQF0
Predicted Effect probably benign
Transcript: ENSMUST00000035164
AA Change: S587P

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000035164
Gene: ENSMUSG00000032555
AA Change: S587P

DomainStartEndE-ValueType
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 noncoding transcript
Transcript: ENSMUST00000186897
Predicted Effect noncoding transcript
Transcript: ENSMUST00000188840
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.6%
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: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A4gnt A T 9: 99,502,725 (GRCm39) N295I probably damaging Het
Abcg3 G A 5: 105,116,036 (GRCm39) A266V probably damaging Het
Apbb1 C A 7: 105,216,922 (GRCm39) D254Y probably damaging Het
Arhgap39 T C 15: 76,621,618 (GRCm39) M328V probably benign Het
Bub1b T A 2: 118,440,325 (GRCm39) V143D probably damaging Het
Celsr3 A G 9: 108,704,996 (GRCm39) D493G probably damaging Het
Cers4 T A 8: 4,566,992 (GRCm39) probably null Het
Clec4d A G 6: 123,251,729 (GRCm39) R204G probably benign Het
Cngb1 C A 8: 95,980,823 (GRCm39) R910L possibly damaging Het
Coro2a A T 4: 46,564,691 (GRCm39) N18K probably benign Het
Cwf19l1 A G 19: 44,110,380 (GRCm39) F290S probably damaging Het
Esp18 C T 17: 39,720,839 (GRCm39) T28I probably damaging Het
Hdac10 A T 15: 89,011,148 (GRCm39) F205Y probably benign Het
Hhip T A 8: 80,724,821 (GRCm39) H317L possibly damaging Het
Il36b G A 2: 24,044,661 (GRCm39) M20I probably benign Het
Ilf3 T A 9: 21,306,168 (GRCm39) N276K probably damaging Het
Jchain T C 5: 88,670,376 (GRCm39) N81S probably benign Het
Mei4 A G 9: 81,907,600 (GRCm39) Y211C probably damaging Het
Mx2 A T 16: 97,339,904 (GRCm39) E20V possibly damaging Het
Ndufa10 A G 1: 92,388,096 (GRCm39) probably null Het
Nodal A G 10: 61,259,456 (GRCm39) T298A probably damaging Het
Nvl T C 1: 180,966,863 (GRCm39) Y47C probably damaging Het
Onecut1 C T 9: 74,770,674 (GRCm39) R366C probably damaging Het
Or9q1 T C 19: 13,804,983 (GRCm39) Y259C probably damaging Het
Plekha6 G C 1: 133,200,045 (GRCm39) R208P possibly damaging Het
Ppp5c A G 7: 16,761,616 (GRCm39) probably null Het
Prag1 A G 8: 36,570,641 (GRCm39) E408G probably benign Het
Ptpn21 T C 12: 98,648,809 (GRCm39) N949S probably damaging Het
Scn7a A C 2: 66,527,912 (GRCm39) N859K possibly damaging Het
Smarca4 T C 9: 21,597,322 (GRCm39) I1362T probably damaging Het
Syt12 T C 19: 4,501,022 (GRCm39) R343G possibly damaging Het
Trim80 C T 11: 115,337,301 (GRCm39) Q388* probably null Het
Tsc2 T C 17: 24,818,861 (GRCm39) probably null Het
Vmn2r130 T A 17: 23,280,461 (GRCm39) S41T probably benign Het
Vmn2r3 T A 3: 64,166,444 (GRCm39) T896S possibly damaging Het
Xirp2 A G 2: 67,340,006 (GRCm39) E749G probably damaging Het
Zbtb24 G A 10: 41,327,849 (GRCm39) G245E probably benign Het
Zfp507 A G 7: 35,487,167 (GRCm39) V767A probably benign Het
Other mutations in Topbp1
AlleleSourceChrCoordTypePredicted EffectPPH 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
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'- GTGAGCCCTGTGATGATTCC -3'
(R):5'- TTGCCCAAACCAAATGCCAATTTAG -3'

Sequencing Primer
(F):5'- AGCCCTGTGATGATTCCACTCAC -3'
(R):5'- TGCCAATTTAGATAAACAGAACAGGC -3'
Posted On 2016-12-15