Incidental Mutation 'R8549:Topbp1'
ID 659779
Institutional Source Beutler Lab
Gene Symbol Topbp1
Ensembl Gene ENSMUSG00000032555
Gene Name topoisomerase (DNA) II binding protein 1
Synonyms 1110031N14Rik, 2810429C13Rik, D430026L04Rik
MMRRC Submission 068514-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R8549 (G1)
Quality Score 225.009
Status Validated
Chromosome 9
Chromosomal Location 103182414-103227627 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 103201577 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Leucine at position 637 (F637L)
Ref Sequence ENSEMBL: ENSMUSP00000035164 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000035164]
AlphaFold Q6ZQF0
Predicted Effect probably damaging
Transcript: ENSMUST00000035164
AA Change: F637L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000035164
Gene: ENSMUSG00000032555
AA Change: F637L

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
Meta Mutation Damage Score 0.6102 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.7%
Validation Efficiency 100% (45/45)
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: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930562C15Rik T C 16: 4,681,061 (GRCm39) probably null Het
Aadacl4 G A 4: 144,349,726 (GRCm39) V328I probably benign Het
Adcy7 A T 8: 89,052,818 (GRCm39) H968L probably benign Het
Ahnak G A 19: 8,988,847 (GRCm39) G3377E probably damaging Het
Ank3 A G 10: 69,818,012 (GRCm39) T56A possibly damaging Het
Anpep A G 7: 79,490,644 (GRCm39) S291P probably benign Het
Arap3 G A 18: 38,106,365 (GRCm39) P1493S probably benign Het
Bsn G A 9: 107,988,651 (GRCm39) A2367V probably benign Het
C1rb T C 6: 124,551,498 (GRCm39) Y203H probably benign Het
Caprin1 G T 2: 103,599,862 (GRCm39) N604K probably damaging Het
Chrd A G 16: 20,560,027 (GRCm39) E898G probably benign Het
Cobll1 T C 2: 64,928,794 (GRCm39) D881G probably damaging Het
Cyp39a1 T A 17: 44,041,886 (GRCm39) D364E possibly damaging Het
Defb33 G A 8: 21,387,594 (GRCm39) G44R probably damaging Het
Efcab3 A T 11: 104,890,521 (GRCm39) E4201V probably damaging Het
Ehhadh A T 16: 21,585,168 (GRCm39) S238T probably benign Het
Eif5b G A 1: 38,076,288 (GRCm39) R612Q possibly damaging Het
Eps8l1 G T 7: 4,473,853 (GRCm39) R220L probably damaging Het
Frmd8 A G 19: 5,919,565 (GRCm39) Y161H possibly damaging Het
Gad2 T A 2: 22,525,059 (GRCm39) probably null Het
Gm4553 ACCCTTGCAGCCACCACAGGAGCCACAGCCCCCACAGGAGCTACAGCCTCCCTTGCAGCCACCACAGGAGCCACAGCCCCCACAGGAGCTACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCC ACCCTTGCAGCCACCACAGGAGCCACAGCCCCCACAGGAGCTACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCC 7: 141,719,157 (GRCm39) probably benign Het
Gm5460 T C 14: 33,758,892 (GRCm39) F184L possibly damaging Het
Grip2 C A 6: 91,750,769 (GRCm39) probably null Het
Hrh4 T C 18: 13,155,115 (GRCm39) F218S possibly damaging Het
Ippk T C 13: 49,615,177 (GRCm39) V520A probably benign Het
Kif15 T A 9: 122,815,236 (GRCm39) Y189N probably benign Het
Kif9 T G 9: 110,343,487 (GRCm39) probably null Het
L1td1 T C 4: 98,626,280 (GRCm39) F825S probably damaging Het
Mcm6 C T 1: 128,273,685 (GRCm39) E382K possibly damaging Het
Nalcn T C 14: 123,607,448 (GRCm39) T674A probably benign Het
Nbeal1 G A 1: 60,274,721 (GRCm39) probably null Het
Nip7 C A 8: 107,784,605 (GRCm39) probably null Het
Npc1l1 A G 11: 6,168,675 (GRCm39) F902S probably damaging Het
Or4k48 C T 2: 111,479,512 (GRCm39) probably benign Het
Pcdha6 T G 18: 37,101,594 (GRCm39) I262M possibly damaging Het
Pcdhga1 T A 18: 37,966,386 (GRCm39) *56R probably null Het
Plcb1 A G 2: 135,206,853 (GRCm39) Y959C probably benign Het
Rnase9 T A 14: 51,276,448 (GRCm39) I177L probably benign Het
Rtn3 T C 19: 7,434,624 (GRCm39) N437S probably benign Het
Rufy3 T A 5: 88,795,073 (GRCm39) probably null Het
Snx29 T C 16: 11,532,920 (GRCm39) probably null Het
Szt2 C A 4: 118,229,878 (GRCm39) R2751L unknown Het
Tagap A G 17: 8,152,797 (GRCm39) T661A probably benign Het
Tcp10b T A 17: 13,281,915 (GRCm39) I95K probably benign Het
Yju2b A T 8: 84,985,399 (GRCm39) V290E probably benign Het
Zfp41 C T 15: 75,490,540 (GRCm39) T164M probably benign Het
Zfp707 T A 15: 75,846,547 (GRCm39) I126N probably benign Het
Zfp957 T C 14: 79,451,346 (GRCm39) E151G probably damaging 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
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
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'- GCAAATGTGAAGGATTGGTATCTG -3'
(R):5'- CTTAGCATGTACAAGGCCCTCC -3'

Sequencing Primer
(F):5'- GGAATATGTCAAGAATGAGCATACTC -3'
(R):5'- GTACAAGGCCCTCCGCTTATTG -3'
Posted On 2021-01-18