Incidental Mutation 'R7605:Topbp1'
| ID |
588250 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Topbp1
|
| Ensembl Gene |
ENSMUSG00000032555 |
| Gene Name |
topoisomerase (DNA) II binding protein 1 |
| Synonyms |
1110031N14Rik, 2810429C13Rik, D430026L04Rik |
| MMRRC Submission |
045675-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R7605 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
103182414-103227627 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 103209905 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Serine
at position 851
(T851S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000035164
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000035164]
|
| AlphaFold |
Q6ZQF0 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000035164
AA Change: T851S
PolyPhen 2
Score 0.408 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000035164
Gene: ENSMUSG00000032555
AA Change: T851S
| 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: ENSMUST00000185721
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.2%
|
| 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: 71 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb5 |
A |
G |
12: 118,881,899 (GRCm39) |
L610P |
probably damaging |
Het |
| Acta2 |
G |
A |
19: 34,229,931 (GRCm39) |
T8I |
probably benign |
Het |
| Asphd2 |
A |
G |
5: 112,539,807 (GRCm39) |
W9R |
probably damaging |
Het |
| Blvrb |
T |
A |
7: 27,165,218 (GRCm39) |
H179Q |
probably damaging |
Het |
| Capn13 |
A |
T |
17: 73,652,132 (GRCm39) |
|
probably null |
Het |
| Casp6 |
A |
T |
3: 129,705,812 (GRCm39) |
M160L |
probably benign |
Het |
| Chordc1 |
A |
G |
9: 18,215,668 (GRCm39) |
E140G |
probably benign |
Het |
| Col24a1 |
A |
T |
3: 145,244,442 (GRCm39) |
Y1572F |
possibly damaging |
Het |
| Cul9 |
A |
G |
17: 46,852,658 (GRCm39) |
S235P |
probably damaging |
Het |
| Cyp2u1 |
A |
T |
3: 131,091,602 (GRCm39) |
M306K |
probably damaging |
Het |
| Dhx33 |
A |
G |
11: 70,890,299 (GRCm39) |
L240P |
probably damaging |
Het |
| Dna2 |
T |
A |
10: 62,796,054 (GRCm39) |
D494E |
probably benign |
Het |
| Dnah7c |
C |
T |
1: 46,671,470 (GRCm39) |
R1620C |
probably damaging |
Het |
| Dpp8 |
G |
A |
9: 64,962,240 (GRCm39) |
V427M |
probably benign |
Het |
| Dpt |
G |
A |
1: 164,624,400 (GRCm39) |
G34S |
unknown |
Het |
| Emb |
T |
A |
13: 117,401,046 (GRCm39) |
N198K |
probably damaging |
Het |
| Entpd5 |
T |
G |
12: 84,443,482 (GRCm39) |
H62P |
probably damaging |
Het |
| Ep300 |
A |
C |
15: 81,505,353 (GRCm39) |
M658L |
unknown |
Het |
| Epb41l4a |
T |
A |
18: 33,930,504 (GRCm39) |
D651V |
probably damaging |
Het |
| Epha7 |
C |
T |
4: 28,871,937 (GRCm39) |
S422L |
probably benign |
Het |
| Ephb2 |
A |
T |
4: 136,498,419 (GRCm39) |
V220E |
probably damaging |
Het |
| Fam187a |
T |
A |
11: 102,776,874 (GRCm39) |
L226H |
possibly damaging |
Het |
| Fbxo42 |
G |
A |
4: 140,927,129 (GRCm39) |
A470T |
probably benign |
Het |
| Fcgrt |
C |
T |
7: 44,744,675 (GRCm39) |
W264* |
probably null |
Het |
| Flt3 |
A |
C |
5: 147,286,386 (GRCm39) |
H733Q |
probably benign |
Het |
| Gabrr2 |
A |
G |
4: 33,082,560 (GRCm39) |
D228G |
probably damaging |
Het |
| Gars1 |
T |
C |
6: 55,054,735 (GRCm39) |
S681P |
probably damaging |
Het |
| Gata2 |
T |
C |
6: 88,177,390 (GRCm39) |
V140A |
possibly damaging |
Het |
| Gm8232 |
A |
T |
14: 44,672,384 (GRCm39) |
N100I |
|
Het |
| Grik4 |
A |
G |
9: 42,599,367 (GRCm39) |
C37R |
probably damaging |
Het |
| Grm8 |
T |
C |
6: 27,618,678 (GRCm39) |
E388G |
probably damaging |
Het |
| Hivep3 |
CGG |
CG |
4: 119,955,108 (GRCm39) |
1141 |
probably null |
Het |
| Igsf9b |
C |
T |
9: 27,234,608 (GRCm39) |
T491I |
probably damaging |
Het |
| Impa1 |
C |
T |
3: 10,389,147 (GRCm39) |
V105I |
probably damaging |
Het |
| Inf2 |
A |
G |
12: 112,567,771 (GRCm39) |
T134A |
probably damaging |
Het |
| Itgb4 |
T |
A |
11: 115,897,302 (GRCm39) |
V1521E |
probably benign |
Het |
| Iws1 |
T |
A |
18: 32,222,540 (GRCm39) |
D623E |
probably benign |
Het |
| Lhfpl5 |
T |
C |
17: 28,795,305 (GRCm39) |
S111P |
possibly damaging |
Het |
| Lyzl1 |
T |
C |
18: 4,169,244 (GRCm39) |
C83R |
probably damaging |
Het |
| Madd |
G |
A |
2: 91,000,055 (GRCm39) |
T617M |
possibly damaging |
Het |
| Magi2 |
A |
G |
5: 20,433,383 (GRCm39) |
T163A |
probably damaging |
Het |
| Mdn1 |
C |
A |
4: 32,694,599 (GRCm39) |
H1107Q |
probably damaging |
Het |
| Mfsd14b |
A |
T |
13: 65,214,591 (GRCm39) |
Y454N |
probably benign |
Het |
| Mrgprb3 |
T |
A |
7: 48,292,862 (GRCm39) |
I230F |
probably benign |
Het |
| Mroh2b |
C |
T |
15: 4,974,505 (GRCm39) |
L1162F |
probably damaging |
Het |
| Or11i1 |
G |
T |
3: 106,729,337 (GRCm39) |
H179Q |
probably damaging |
Het |
| Or2aj5 |
T |
C |
16: 19,425,022 (GRCm39) |
Y131C |
probably damaging |
Het |
| Or51f23b |
C |
T |
7: 102,402,952 (GRCm39) |
M61I |
probably benign |
Het |
| Or51m1 |
T |
C |
7: 103,578,075 (GRCm39) |
L15P |
probably damaging |
Het |
| Or5ar1 |
A |
G |
2: 85,671,383 (GRCm39) |
F251L |
probably benign |
Het |
| Or9e1 |
A |
G |
11: 58,732,326 (GRCm39) |
I129V |
probably benign |
Het |
| Pclo |
T |
C |
5: 14,729,050 (GRCm39) |
L2636P |
unknown |
Het |
| Pfkm |
G |
A |
15: 98,019,191 (GRCm39) |
A181T |
probably damaging |
Het |
| Pik3r1 |
C |
T |
13: 101,839,346 (GRCm39) |
A169T |
probably benign |
Het |
| R3hdml |
T |
A |
2: 163,337,688 (GRCm39) |
M114K |
probably damaging |
Het |
| Robo1 |
C |
A |
16: 72,821,189 (GRCm39) |
R1310S |
probably benign |
Het |
| Scnm1 |
A |
T |
3: 95,040,186 (GRCm39) |
N115K |
probably benign |
Het |
| Sfn |
A |
G |
4: 133,328,548 (GRCm39) |
V178A |
probably damaging |
Het |
| Shank2 |
C |
T |
7: 143,645,516 (GRCm39) |
T366I |
possibly damaging |
Het |
| Siah1a |
T |
C |
8: 87,451,953 (GRCm39) |
D177G |
probably damaging |
Het |
| Slc37a2 |
A |
C |
9: 37,148,624 (GRCm39) |
I286S |
possibly damaging |
Het |
| Smarce1 |
T |
C |
11: 99,119,118 (GRCm39) |
T12A |
probably benign |
Het |
| Spata31d1c |
T |
A |
13: 65,183,654 (GRCm39) |
S399T |
probably benign |
Het |
| Specc1 |
A |
G |
11: 62,102,506 (GRCm39) |
S942G |
possibly damaging |
Het |
| Syt13 |
T |
C |
2: 92,773,478 (GRCm39) |
F164S |
probably benign |
Het |
| Ttn |
A |
T |
2: 76,800,015 (GRCm39) |
S398T |
unknown |
Het |
| Vmn1r12 |
T |
C |
6: 57,136,521 (GRCm39) |
V206A |
probably damaging |
Het |
| Vmn1r224 |
G |
A |
17: 20,640,221 (GRCm39) |
W266* |
probably null |
Het |
| Vmn2r68 |
T |
C |
7: 84,883,116 (GRCm39) |
D212G |
probably benign |
Het |
| Vps13b |
G |
T |
15: 35,770,792 (GRCm39) |
K2078N |
probably damaging |
Het |
| Zfp251 |
A |
C |
15: 76,738,557 (GRCm39) |
F179V |
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 |
|
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 |
|
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'- CTGCTGAAAAGGTAAGTATGCC -3'
(R):5'- TTGACATGCATTAGGGACACC -3'
Sequencing Primer
(F):5'- TATAGTTGTGAGCCACCACG -3'
(R):5'- GGACACCTTCCATTTAATAAGAAAAC -3'
|
| Posted On |
2019-10-24 |
Incidental Mutation