Incidental Mutation 'R9006:Topbp1'
| ID |
685306 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Topbp1
|
| Ensembl Gene |
ENSMUSG00000032555 |
| Gene Name |
topoisomerase (DNA) II binding protein 1 |
| Synonyms |
1110031N14Rik, 2810429C13Rik, D430026L04Rik |
| MMRRC Submission |
068836-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R9006 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
103182414-103227627 bp(+) (GRCm39) |
| Type of Mutation |
unclassified |
| DNA Base Change (assembly) |
C to T
at 103182499 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000139773
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000035164]
[ENSMUST00000142540]
[ENSMUST00000187065]
|
| AlphaFold |
Q6ZQF0 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000035164
|
| SMART Domains |
Protein: ENSMUSP00000035164
Gene: ENSMUSG00000032555
| 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: ENSMUST00000142540
|
| 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 |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.7%
|
| Validation Efficiency |
97% (72/74) |
| 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: 74 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc6 |
T |
C |
7: 45,665,820 (GRCm39) |
N267D |
probably benign |
Het |
| Akap1 |
A |
T |
11: 88,723,996 (GRCm39) |
M803K |
possibly damaging |
Het |
| Amer2 |
G |
C |
14: 60,617,376 (GRCm39) |
D524H |
probably damaging |
Het |
| Ankrd31 |
T |
C |
13: 96,967,104 (GRCm39) |
F528L |
probably benign |
Het |
| Arhgef10l |
A |
G |
4: 140,271,659 (GRCm39) |
Y624H |
probably benign |
Het |
| Bltp2 |
T |
C |
11: 78,164,345 (GRCm39) |
F1182L |
possibly damaging |
Het |
| Cfap73 |
G |
A |
5: 120,767,760 (GRCm39) |
Q264* |
probably null |
Het |
| Clca3a2 |
C |
A |
3: 144,783,789 (GRCm39) |
A609S |
probably damaging |
Het |
| Cntfr |
A |
T |
4: 41,661,971 (GRCm39) |
|
probably null |
Het |
| Cyp2c65 |
C |
T |
19: 39,070,714 (GRCm39) |
T299I |
probably damaging |
Het |
| Cyp2j5 |
G |
T |
4: 96,552,149 (GRCm39) |
N33K |
probably benign |
Het |
| Dhcr7 |
T |
A |
7: 143,394,978 (GRCm39) |
S165T |
probably benign |
Het |
| Dnah10 |
A |
T |
5: 124,820,783 (GRCm39) |
D539V |
probably benign |
Het |
| Ebag9 |
A |
T |
15: 44,503,703 (GRCm39) |
Q176L |
probably benign |
Het |
| Fbxw20 |
T |
A |
9: 109,062,530 (GRCm39) |
|
probably benign |
Het |
| Ftmt |
A |
G |
18: 52,465,112 (GRCm39) |
K143E |
possibly damaging |
Het |
| Gcc2 |
C |
T |
10: 58,103,801 (GRCm39) |
R76C |
probably damaging |
Het |
| Gcn1 |
A |
G |
5: 115,719,566 (GRCm39) |
T354A |
probably benign |
Het |
| Gtf2h1 |
A |
G |
7: 46,458,262 (GRCm39) |
M271V |
probably benign |
Het |
| Iah1 |
G |
A |
12: 21,367,402 (GRCm39) |
G36D |
probably damaging |
Het |
| Ism2 |
G |
T |
12: 87,326,969 (GRCm39) |
D323E |
probably damaging |
Het |
| Itih4 |
A |
G |
14: 30,612,086 (GRCm39) |
I184V |
probably damaging |
Het |
| Kdm4d |
C |
A |
9: 14,374,833 (GRCm39) |
V342L |
probably benign |
Het |
| Lmbr1 |
A |
G |
5: 29,551,900 (GRCm39) |
F62L |
probably benign |
Het |
| Lmo7 |
TCGGATTCTGTGGC |
TC |
14: 102,155,072 (GRCm39) |
|
probably benign |
Het |
| Lypd8 |
T |
A |
11: 58,277,586 (GRCm39) |
S123T |
possibly damaging |
Het |
| Mical2 |
T |
A |
7: 111,981,323 (GRCm39) |
N432K |
probably benign |
Het |
| Mrgprb4 |
A |
G |
7: 47,848,343 (GRCm39) |
V195A |
probably benign |
Het |
| Ms4a4c |
A |
T |
19: 11,396,360 (GRCm39) |
I106F |
probably benign |
Het |
| Myo6 |
A |
G |
9: 80,136,140 (GRCm39) |
T88A |
unknown |
Het |
| Naa35 |
A |
G |
13: 59,748,842 (GRCm39) |
D158G |
possibly damaging |
Het |
| Nol12 |
A |
G |
15: 78,824,291 (GRCm39) |
E137G |
possibly damaging |
Het |
| Nsun4 |
A |
G |
4: 115,897,316 (GRCm39) |
S232P |
probably damaging |
Het |
| Odad2 |
A |
T |
18: 7,294,516 (GRCm39) |
N32K |
probably benign |
Het |
| Odam |
A |
T |
5: 88,040,298 (GRCm39) |
I255L |
probably benign |
Het |
| Or14j8 |
A |
T |
17: 38,263,545 (GRCm39) |
Y123* |
probably null |
Het |
| Or1ad8 |
A |
T |
11: 50,897,975 (GRCm39) |
M59L |
probably damaging |
Het |
| Or1e26 |
T |
A |
11: 73,480,036 (GRCm39) |
H176L |
probably benign |
Het |
| Or2n1d |
T |
C |
17: 38,646,723 (GRCm39) |
V225A |
possibly damaging |
Het |
| Or2w3b |
G |
A |
11: 58,623,188 (GRCm39) |
Q268* |
probably null |
Het |
| Or4b1 |
T |
G |
2: 89,980,327 (GRCm39) |
T8P |
probably damaging |
Het |
| Pcnx2 |
T |
C |
8: 126,613,996 (GRCm39) |
D485G |
probably benign |
Het |
| Polr3b |
T |
A |
10: 84,467,697 (GRCm39) |
N92K |
probably benign |
Het |
| Rpgrip1l |
T |
A |
8: 92,007,436 (GRCm39) |
M385L |
probably benign |
Het |
| Sdk1 |
A |
T |
5: 141,923,321 (GRCm39) |
N314I |
probably damaging |
Het |
| Shc4 |
T |
C |
2: 125,514,394 (GRCm39) |
|
probably benign |
Het |
| Slc45a1 |
A |
C |
4: 150,722,731 (GRCm39) |
C384W |
probably damaging |
Het |
| Slc4a11 |
C |
T |
2: 130,532,773 (GRCm39) |
V227M |
probably damaging |
Het |
| Sorbs2 |
A |
C |
8: 46,258,858 (GRCm39) |
S1132R |
possibly damaging |
Het |
| Spata31e3 |
G |
A |
13: 50,401,589 (GRCm39) |
H246Y |
possibly damaging |
Het |
| Spata31f1e |
C |
T |
4: 42,792,546 (GRCm39) |
G529S |
probably benign |
Het |
| Spta1 |
T |
A |
1: 174,047,537 (GRCm39) |
I1727K |
probably damaging |
Het |
| Srgap2 |
T |
C |
1: 131,283,307 (GRCm39) |
E258G |
probably damaging |
Het |
| Taco1 |
A |
T |
11: 105,956,931 (GRCm39) |
|
probably benign |
Het |
| Taf2 |
A |
T |
15: 54,909,301 (GRCm39) |
M648K |
possibly damaging |
Het |
| Taf7 |
A |
G |
18: 37,775,757 (GRCm39) |
V270A |
probably benign |
Het |
| Tbkbp1 |
G |
A |
11: 97,029,707 (GRCm39) |
T483I |
unknown |
Het |
| Tesc |
A |
G |
5: 118,184,378 (GRCm39) |
|
probably null |
Het |
| Tgs1 |
A |
G |
4: 3,595,427 (GRCm39) |
N532S |
probably benign |
Het |
| Tmco1 |
C |
T |
1: 167,136,132 (GRCm39) |
|
probably benign |
Het |
| Tmem196 |
T |
A |
12: 119,978,510 (GRCm39) |
C84S |
probably damaging |
Het |
| Ttc16 |
A |
G |
2: 32,652,985 (GRCm39) |
S615P |
probably benign |
Het |
| Ttc21a |
T |
A |
9: 119,792,130 (GRCm39) |
|
probably benign |
Het |
| Tuba3b |
T |
C |
6: 145,565,564 (GRCm39) |
V344A |
possibly damaging |
Het |
| Tubgcp4 |
T |
C |
2: 121,015,251 (GRCm39) |
F320L |
probably benign |
Het |
| Tusc3 |
T |
A |
8: 39,538,627 (GRCm39) |
L222* |
probably null |
Het |
| Ubr4 |
G |
A |
4: 139,172,003 (GRCm39) |
|
probably null |
Het |
| Uncx |
G |
T |
5: 139,532,936 (GRCm39) |
V334L |
possibly damaging |
Het |
| Vezf1 |
C |
A |
11: 87,965,542 (GRCm39) |
F261L |
probably damaging |
Het |
| Vezt |
T |
A |
10: 93,809,874 (GRCm39) |
I556L |
probably benign |
Het |
| Vmn1r172 |
C |
T |
7: 23,359,402 (GRCm39) |
R96C |
probably benign |
Het |
| Zfp383 |
A |
G |
7: 29,608,070 (GRCm39) |
M1V |
probably null |
Het |
| Zfp558 |
A |
T |
9: 18,367,776 (GRCm39) |
S337R |
possibly damaging |
Het |
| Zranb1 |
T |
A |
7: 132,572,909 (GRCm39) |
|
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 |
|
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 |
|
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'- CCGAAACTGTTGCCGCAAAC -3'
(R):5'- TTAACGAACTCTGAACGCAAGC -3'
Sequencing Primer
(F):5'- ATCTCGGGAAAGCGTGC -3'
(R):5'- TCCCAGGGAAAGGAGCGTC -3'
|
| Posted On |
2021-10-11 |
Incidental Mutation