Incidental Mutation 'R0666:Topbp1'
| ID |
62025 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Topbp1
|
| Ensembl Gene |
ENSMUSG00000032555 |
| Gene Name |
topoisomerase (DNA) II binding protein 1 |
| Synonyms |
1110031N14Rik, 2810429C13Rik, D430026L04Rik |
| MMRRC Submission |
038851-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R0666 (G1)
|
| Quality Score |
109 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
103182414-103227627 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 103186011 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Lysine
at position 51
(R51K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000139773
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000035164]
[ENSMUST00000142540]
[ENSMUST00000187065]
|
| AlphaFold |
Q6ZQF0 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000035164
AA Change: R51K
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000035164
Gene: ENSMUSG00000032555
AA Change: R51K
| 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
AA Change: R51K
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000139773
Gene: ENSMUSG00000032555
AA Change: R51K
| 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 |
0.0898 |
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.9%
- 10x: 97.7%
- 20x: 95.7%
|
| Validation Efficiency |
100% (89/89) |
| 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: 79 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Akap6 |
T |
A |
12: 52,958,591 (GRCm39) |
V782E |
probably damaging |
Het |
| Atg9a |
A |
G |
1: 75,161,734 (GRCm39) |
L604P |
probably damaging |
Het |
| Atp1a3 |
T |
C |
7: 24,689,974 (GRCm39) |
I482V |
probably benign |
Het |
| Bltp2 |
T |
G |
11: 78,178,813 (GRCm39) |
M2026R |
probably damaging |
Het |
| Bltp2 |
T |
A |
11: 78,168,038 (GRCm39) |
L1491* |
probably null |
Het |
| Ccdc18 |
T |
G |
5: 108,311,530 (GRCm39) |
V412G |
probably benign |
Het |
| Ccn6 |
T |
C |
10: 39,027,285 (GRCm39) |
R316G |
probably benign |
Het |
| Cct6a |
A |
G |
5: 129,871,449 (GRCm39) |
|
noncoding transcript |
Het |
| Clpx |
A |
G |
9: 65,217,507 (GRCm39) |
N25S |
probably damaging |
Het |
| Cnpy2 |
T |
A |
10: 128,162,894 (GRCm39) |
C171* |
probably null |
Het |
| Cntnap3 |
C |
T |
13: 64,905,211 (GRCm39) |
D857N |
probably damaging |
Het |
| Col5a1 |
A |
G |
2: 27,922,697 (GRCm39) |
Y255C |
probably damaging |
Het |
| Coro7 |
A |
T |
16: 4,449,775 (GRCm39) |
F638Y |
possibly damaging |
Het |
| Cpd |
A |
G |
11: 76,673,153 (GRCm39) |
F1331L |
probably damaging |
Het |
| Csmd1 |
A |
T |
8: 16,119,063 (GRCm39) |
I1842N |
possibly damaging |
Het |
| Dgkg |
T |
A |
16: 22,381,480 (GRCm39) |
D490V |
probably damaging |
Het |
| Dnah9 |
A |
T |
11: 65,976,284 (GRCm39) |
M1255K |
probably benign |
Het |
| E2f1 |
A |
G |
2: 154,402,849 (GRCm39) |
V306A |
probably benign |
Het |
| Entpd1 |
A |
G |
19: 40,648,350 (GRCm39) |
|
probably benign |
Het |
| Esrrb |
T |
A |
12: 86,552,676 (GRCm39) |
I222N |
probably benign |
Het |
| Flt4 |
G |
T |
11: 49,516,274 (GRCm39) |
A126S |
possibly damaging |
Het |
| Galnt11 |
C |
T |
5: 25,457,145 (GRCm39) |
T237I |
possibly damaging |
Het |
| Galnt2l |
A |
T |
8: 122,997,727 (GRCm39) |
|
probably benign |
Het |
| Gbf1 |
A |
G |
19: 46,250,983 (GRCm39) |
|
probably benign |
Het |
| H2-T9 |
T |
C |
17: 36,438,726 (GRCm39) |
T222A |
possibly damaging |
Het |
| Herc1 |
T |
A |
9: 66,392,170 (GRCm39) |
|
probably benign |
Het |
| Hsph1 |
T |
C |
5: 149,554,967 (GRCm39) |
Y105C |
probably damaging |
Het |
| Il23r |
T |
C |
6: 67,411,664 (GRCm39) |
T358A |
probably benign |
Het |
| Il2ra |
C |
T |
2: 11,647,884 (GRCm39) |
|
probably benign |
Het |
| Kbtbd4 |
G |
T |
2: 90,744,459 (GRCm39) |
|
probably benign |
Het |
| Kcnt1 |
A |
G |
2: 25,781,255 (GRCm39) |
|
probably benign |
Het |
| Kng2 |
A |
G |
16: 22,815,872 (GRCm39) |
|
probably benign |
Het |
| Lap3 |
C |
T |
5: 45,669,270 (GRCm39) |
T473I |
possibly damaging |
Het |
| Lrrk2 |
T |
C |
15: 91,641,273 (GRCm39) |
|
probably null |
Het |
| Map1s |
A |
G |
8: 71,366,696 (GRCm39) |
N534D |
possibly damaging |
Het |
| Mtg1 |
G |
A |
7: 139,724,257 (GRCm39) |
V122I |
probably benign |
Het |
| Myadm |
T |
A |
7: 3,345,865 (GRCm39) |
I209K |
probably damaging |
Het |
| Ntsr2 |
G |
A |
12: 16,703,981 (GRCm39) |
V75I |
probably benign |
Het |
| Or4b1b |
A |
T |
2: 90,112,212 (GRCm39) |
S236T |
probably damaging |
Het |
| Or8u10 |
G |
A |
2: 85,915,557 (GRCm39) |
A188V |
probably benign |
Het |
| Pfn1 |
T |
C |
11: 70,545,192 (GRCm39) |
T39A |
probably benign |
Het |
| Pipox |
T |
A |
11: 77,774,651 (GRCm39) |
K144M |
probably benign |
Het |
| Plekhh1 |
G |
A |
12: 79,115,889 (GRCm39) |
E811K |
probably damaging |
Het |
| Pnpla3 |
T |
A |
15: 84,063,506 (GRCm39) |
W295R |
probably benign |
Het |
| Prkacb |
T |
A |
3: 146,457,273 (GRCm39) |
T136S |
probably damaging |
Het |
| Ralbp1 |
T |
A |
17: 66,161,124 (GRCm39) |
N473I |
probably benign |
Het |
| Rbp4 |
G |
A |
19: 38,106,908 (GRCm39) |
T127M |
probably damaging |
Het |
| Rif1 |
GCCACCA |
GCCA |
2: 52,000,336 (GRCm39) |
|
probably benign |
Het |
| Rps3a1 |
G |
A |
3: 86,045,424 (GRCm39) |
|
probably benign |
Het |
| Scg3 |
G |
T |
9: 75,551,222 (GRCm39) |
Y429* |
probably null |
Het |
| Shisal2b |
G |
T |
13: 104,994,862 (GRCm39) |
T95K |
possibly damaging |
Het |
| Spag5 |
T |
C |
11: 78,204,222 (GRCm39) |
S492P |
probably damaging |
Het |
| St7 |
T |
A |
6: 17,934,238 (GRCm39) |
M540K |
probably damaging |
Het |
| Stxbp3 |
C |
A |
3: 108,712,618 (GRCm39) |
V281F |
possibly damaging |
Het |
| Sun5 |
A |
G |
2: 153,700,968 (GRCm39) |
V242A |
possibly damaging |
Het |
| Susd5 |
G |
T |
9: 113,924,852 (GRCm39) |
R245L |
possibly damaging |
Het |
| Syne2 |
A |
G |
12: 75,969,787 (GRCm39) |
E954G |
probably damaging |
Het |
| Synpo2 |
A |
T |
3: 122,907,708 (GRCm39) |
V536E |
probably damaging |
Het |
| Tas2r140 |
T |
C |
6: 133,032,405 (GRCm39) |
I118V |
probably benign |
Het |
| Tbx18 |
C |
A |
9: 87,606,462 (GRCm39) |
V228L |
probably benign |
Het |
| Tdrd9 |
T |
A |
12: 111,974,014 (GRCm39) |
|
probably benign |
Het |
| Tektl1 |
C |
A |
10: 78,586,381 (GRCm39) |
L223F |
probably benign |
Het |
| Tg |
T |
C |
15: 66,609,370 (GRCm39) |
M310T |
probably benign |
Het |
| Ticam2 |
T |
A |
18: 46,693,718 (GRCm39) |
D123V |
probably damaging |
Het |
| Timm23 |
A |
G |
14: 31,920,993 (GRCm39) |
|
probably benign |
Het |
| Tinag |
C |
T |
9: 76,912,969 (GRCm39) |
R280H |
probably benign |
Het |
| Tor1b |
A |
G |
2: 30,843,925 (GRCm39) |
I121V |
probably damaging |
Het |
| Tpmt |
C |
A |
13: 47,185,930 (GRCm39) |
G148V |
probably damaging |
Het |
| Tubb1 |
A |
G |
2: 174,299,548 (GRCm39) |
E410G |
probably damaging |
Het |
| Ubash3b |
C |
A |
9: 40,958,360 (GRCm39) |
V7L |
possibly damaging |
Het |
| Ube2o |
C |
T |
11: 116,433,661 (GRCm39) |
E686K |
probably damaging |
Het |
| Unc13d |
T |
A |
11: 115,960,318 (GRCm39) |
|
probably benign |
Het |
| Vmn1r183 |
A |
T |
7: 23,754,601 (GRCm39) |
M135L |
probably benign |
Het |
| Xkr8 |
T |
C |
4: 132,459,649 (GRCm39) |
Y43C |
probably damaging |
Het |
| Zc3h4 |
T |
A |
7: 16,168,697 (GRCm39) |
N935K |
unknown |
Het |
| Zc3h7a |
G |
A |
16: 10,974,167 (GRCm39) |
|
probably benign |
Het |
| Zfp84 |
C |
T |
7: 29,476,276 (GRCm39) |
H323Y |
probably damaging |
Het |
| Zfp873 |
G |
T |
10: 81,896,595 (GRCm39) |
S442I |
possibly damaging |
Het |
| Zfp938 |
A |
G |
10: 82,061,606 (GRCm39) |
L338P |
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 |
|
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 |
|
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'- GCTGGGTTTGAAATTAGCTCTGAGCAC -3'
(R):5'- GCCCAAAGAATCCCAAGGTACTCGTAG -3'
Sequencing Primer
(F):5'- TAGCTCTGAGCACTTAGTAGGAC -3'
(R):5'- GAATGAGACCCTacacacgc -3'
|
| Posted On |
2013-07-30 |
Incidental Mutation