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)
|
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
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 |
|
Meta Mutation Damage Score |
0.6102 |
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
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
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 |
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 |
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 |