Incidental Mutation 'R3845:Topbp1'
| ID |
277331 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Topbp1
|
| Ensembl Gene |
ENSMUSG00000032555 |
| Gene Name |
topoisomerase (DNA) II binding protein 1 |
| Synonyms |
1110031N14Rik, 2810429C13Rik, D430026L04Rik |
| MMRRC Submission |
040893-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R3845 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
103182414-103227627 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 103187122 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 109
(V109A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000035164
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000035164]
[ENSMUST00000142540]
[ENSMUST00000187065]
|
| AlphaFold |
Q6ZQF0 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000035164
AA Change: V109A
PolyPhen 2
Score 0.871 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000035164
Gene: ENSMUSG00000032555
AA Change: V109A
| 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 |
possibly damaging
Transcript: ENSMUST00000187065
AA Change: V109A
PolyPhen 2
Score 0.502 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000139773
Gene: ENSMUSG00000032555
AA Change: V109A
| 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 |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000189631
|
| Meta Mutation Damage Score |
0.4407 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.6%
- 20x: 95.8%
|
| Validation Efficiency |
98% (45/46) |
| 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: 47 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam34l |
T |
C |
8: 44,079,669 (GRCm39) |
N185S |
probably benign |
Het |
| Apool |
A |
T |
X: 111,274,155 (GRCm39) |
|
probably benign |
Het |
| Atp4a |
A |
G |
7: 30,416,540 (GRCm39) |
N439S |
probably null |
Het |
| AU041133 |
T |
A |
10: 81,987,152 (GRCm39) |
H268Q |
probably damaging |
Het |
| Ccdc136 |
C |
T |
6: 29,417,176 (GRCm39) |
R666W |
probably benign |
Het |
| Ccdc97 |
T |
C |
7: 25,414,453 (GRCm39) |
|
probably benign |
Het |
| Celf1 |
T |
C |
2: 90,839,583 (GRCm39) |
V336A |
possibly damaging |
Het |
| Chd3 |
T |
C |
11: 69,237,585 (GRCm39) |
N1870D |
possibly damaging |
Het |
| Col5a3 |
C |
T |
9: 20,719,673 (GRCm39) |
D229N |
unknown |
Het |
| Cpn1 |
G |
T |
19: 43,962,523 (GRCm39) |
P142Q |
possibly damaging |
Het |
| Cubn |
T |
C |
2: 13,287,819 (GRCm39) |
D3420G |
probably damaging |
Het |
| Cyp2u1 |
A |
G |
3: 131,087,135 (GRCm39) |
F482S |
possibly damaging |
Het |
| Foxo1 |
T |
A |
3: 52,253,701 (GRCm39) |
D621E |
probably benign |
Het |
| Grid2 |
A |
G |
6: 64,322,826 (GRCm39) |
M609V |
possibly damaging |
Het |
| Hsd17b3 |
A |
T |
13: 64,236,876 (GRCm39) |
F23I |
possibly damaging |
Het |
| Kcnk10 |
A |
G |
12: 98,407,003 (GRCm39) |
I217T |
probably benign |
Het |
| Mis18bp1 |
G |
A |
12: 65,195,916 (GRCm39) |
S616L |
possibly damaging |
Het |
| Mtch1 |
A |
T |
17: 29,561,806 (GRCm39) |
F133I |
probably damaging |
Het |
| Myh4 |
T |
A |
11: 67,149,931 (GRCm39) |
V1830E |
possibly damaging |
Het |
| Nav3 |
T |
C |
10: 109,689,237 (GRCm39) |
M347V |
possibly damaging |
Het |
| Nbea |
A |
G |
3: 55,993,713 (GRCm39) |
|
probably benign |
Het |
| Nhej1 |
A |
T |
1: 75,008,042 (GRCm39) |
D76E |
probably benign |
Het |
| Nsf |
C |
T |
11: 103,821,578 (GRCm39) |
E26K |
possibly damaging |
Het |
| Or5m12 |
A |
C |
2: 85,735,081 (GRCm39) |
C106G |
probably damaging |
Het |
| Pias3 |
T |
C |
3: 96,609,526 (GRCm39) |
V307A |
probably benign |
Het |
| Pltp |
T |
A |
2: 164,696,208 (GRCm39) |
M135L |
probably benign |
Het |
| Plxna2 |
A |
G |
1: 194,476,098 (GRCm39) |
Y1106C |
probably damaging |
Het |
| Pramel26 |
T |
C |
4: 143,538,545 (GRCm39) |
E142G |
probably damaging |
Het |
| Ptgir |
G |
A |
7: 16,641,311 (GRCm39) |
R201H |
probably damaging |
Het |
| Ptk7 |
A |
T |
17: 46,897,344 (GRCm39) |
D329E |
probably benign |
Het |
| Pygl |
T |
C |
12: 70,245,217 (GRCm39) |
D411G |
probably benign |
Het |
| Rev1 |
A |
T |
1: 38,138,069 (GRCm39) |
M72K |
probably damaging |
Het |
| Sfrp1 |
T |
C |
8: 23,902,264 (GRCm39) |
L155P |
probably damaging |
Het |
| Slc5a4a |
A |
G |
10: 76,024,983 (GRCm39) |
E620G |
probably damaging |
Het |
| Smarca2 |
A |
G |
19: 26,698,273 (GRCm39) |
I1314V |
probably benign |
Het |
| Tas2r109 |
G |
A |
6: 132,957,766 (GRCm39) |
L55F |
probably damaging |
Het |
| Tek |
T |
A |
4: 94,693,109 (GRCm39) |
C274S |
probably damaging |
Het |
| Tektl1 |
T |
C |
10: 78,584,532 (GRCm39) |
N330S |
probably benign |
Het |
| Tent4b |
A |
T |
8: 88,977,292 (GRCm39) |
I322F |
possibly damaging |
Het |
| Tmem38b |
T |
A |
4: 53,859,905 (GRCm39) |
D228E |
probably benign |
Het |
| Trbv5 |
A |
G |
6: 41,039,682 (GRCm39) |
I96V |
probably benign |
Het |
| Trim16 |
T |
G |
11: 62,727,498 (GRCm39) |
|
probably benign |
Het |
| Upf3a |
A |
T |
8: 13,848,238 (GRCm39) |
T345S |
probably benign |
Het |
| Usp15 |
A |
G |
10: 122,955,040 (GRCm39) |
S913P |
probably damaging |
Het |
| Vmn2r124 |
T |
A |
17: 18,293,953 (GRCm39) |
V680D |
possibly damaging |
Het |
| Vmn2r91 |
G |
A |
17: 18,327,860 (GRCm39) |
V485I |
probably benign |
Het |
| Zdbf2 |
A |
T |
1: 63,347,483 (GRCm39) |
H1954L |
possibly 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 |
|
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 |
|
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'- GGCAGTTATGAGCGCTCTTG -3'
(R):5'- AGCCATGCACAAGTCTGCTG -3'
Sequencing Primer
(F):5'- ACATTTCATGGTTTTCTGCAGTAGC -3'
(R):5'- ACAAGTCTGCTGGCTGTGAAC -3'
|
| Posted On |
2015-04-06 |
Incidental Mutation