Incidental Mutation 'R7701:Topbp1'
| ID |
594009 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Topbp1
|
| Ensembl Gene |
ENSMUSG00000032555 |
| Gene Name |
topoisomerase (DNA) II binding protein 1 |
| Synonyms |
1110031N14Rik, 2810429C13Rik, D430026L04Rik |
| MMRRC Submission |
045762-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R7701 (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 103210184 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 914
(V914A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000035164
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000035164]
|
| AlphaFold |
Q6ZQF0 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000035164
AA Change: V914A
PolyPhen 2
Score 0.960 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000035164
Gene: ENSMUSG00000032555
AA Change: V914A
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.4%
|
| Validation Efficiency |
100% (57/57) |
| 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: 55 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930470P17Rik |
T |
C |
2: 170,443,225 (GRCm39) |
|
probably benign |
Het |
| 4932414N04Rik |
G |
A |
2: 68,561,548 (GRCm39) |
V292M |
possibly damaging |
Het |
| Actn1 |
A |
T |
12: 80,221,328 (GRCm39) |
V575E |
possibly damaging |
Het |
| Arhgef1 |
T |
C |
7: 24,612,003 (GRCm39) |
S129P |
probably benign |
Het |
| Aup1 |
T |
C |
6: 83,032,908 (GRCm39) |
V214A |
probably benign |
Het |
| Bbs10 |
A |
G |
10: 111,135,874 (GRCm39) |
E329G |
probably damaging |
Het |
| Brinp2 |
A |
G |
1: 158,094,030 (GRCm39) |
|
probably null |
Het |
| Ccdc3 |
A |
G |
2: 5,142,868 (GRCm39) |
T42A |
possibly damaging |
Het |
| Cd276 |
T |
C |
9: 58,442,810 (GRCm39) |
N215S |
probably benign |
Het |
| Col24a1 |
T |
A |
3: 145,020,772 (GRCm39) |
M381K |
probably benign |
Het |
| Col24a1 |
A |
G |
3: 145,072,656 (GRCm39) |
|
probably null |
Het |
| Col6a4 |
A |
C |
9: 105,960,087 (GRCm39) |
F19V |
probably benign |
Het |
| Crybg1 |
G |
T |
10: 43,865,139 (GRCm39) |
A1446E |
probably benign |
Het |
| Dach1 |
C |
T |
14: 98,140,670 (GRCm39) |
R496K |
probably damaging |
Het |
| Dchs2 |
A |
G |
3: 83,253,513 (GRCm39) |
T2308A |
possibly damaging |
Het |
| Duxf1 |
A |
G |
10: 58,058,885 (GRCm39) |
V623A |
possibly damaging |
Het |
| Dync1h1 |
G |
A |
12: 110,585,080 (GRCm39) |
D828N |
probably damaging |
Het |
| Eif2a |
A |
T |
3: 58,459,991 (GRCm39) |
H462L |
possibly damaging |
Het |
| Flot2 |
A |
G |
11: 77,928,942 (GRCm39) |
|
probably null |
Het |
| Gas2 |
T |
G |
7: 51,643,101 (GRCm39) |
Y263* |
probably null |
Het |
| Gm5111 |
A |
G |
6: 48,567,027 (GRCm39) |
I81V |
unknown |
Het |
| Iqcm |
A |
G |
8: 76,281,539 (GRCm39) |
I7M |
probably benign |
Het |
| Kank1 |
G |
A |
19: 25,389,129 (GRCm39) |
|
probably null |
Het |
| Lnx2 |
A |
T |
5: 146,961,333 (GRCm39) |
V533E |
probably damaging |
Het |
| Mapk8ip3 |
G |
T |
17: 25,120,378 (GRCm39) |
P904T |
possibly damaging |
Het |
| Mcm5 |
C |
A |
8: 75,850,551 (GRCm39) |
H596N |
probably benign |
Het |
| Miip |
A |
T |
4: 147,947,371 (GRCm39) |
V237E |
probably null |
Het |
| Mob3a |
G |
A |
10: 80,525,768 (GRCm39) |
A181V |
probably damaging |
Het |
| Mrpl38 |
G |
A |
11: 116,026,104 (GRCm39) |
R99W |
probably benign |
Het |
| Naa25 |
A |
G |
5: 121,564,042 (GRCm39) |
T486A |
probably benign |
Het |
| Or2z9 |
T |
A |
8: 72,854,030 (GRCm39) |
L142Q |
probably damaging |
Het |
| Or5b102 |
A |
G |
19: 13,041,445 (GRCm39) |
I223M |
probably damaging |
Het |
| Or8g4 |
A |
G |
9: 39,662,597 (GRCm39) |
Y305C |
probably benign |
Het |
| Pcdha8 |
A |
T |
18: 37,126,864 (GRCm39) |
N449Y |
probably damaging |
Het |
| Pcdhb6 |
A |
T |
18: 37,467,562 (GRCm39) |
D161V |
probably damaging |
Het |
| Pdlim3 |
A |
G |
8: 46,361,576 (GRCm39) |
D134G |
probably benign |
Het |
| Phpt1 |
A |
G |
2: 25,464,799 (GRCm39) |
V18A |
probably benign |
Het |
| Prg4 |
T |
C |
1: 150,333,293 (GRCm39) |
K177E |
possibly damaging |
Het |
| Psmb1 |
A |
G |
17: 15,697,509 (GRCm39) |
F202S |
probably benign |
Het |
| Rab14 |
A |
G |
2: 35,073,427 (GRCm39) |
F150L |
|
Het |
| Rgs14 |
A |
G |
13: 55,527,138 (GRCm39) |
D169G |
probably damaging |
Het |
| Rreb1 |
C |
T |
13: 38,114,092 (GRCm39) |
L484F |
possibly damaging |
Het |
| Rsph14 |
A |
T |
10: 74,793,608 (GRCm39) |
Y264* |
probably null |
Het |
| Scly |
T |
C |
1: 91,236,030 (GRCm39) |
I152T |
|
Het |
| Ska1 |
A |
T |
18: 74,335,714 (GRCm39) |
H85Q |
probably damaging |
Het |
| Slc35b3 |
T |
C |
13: 39,128,611 (GRCm39) |
M159V |
probably benign |
Het |
| Smok2b |
A |
G |
17: 13,453,767 (GRCm39) |
|
probably benign |
Het |
| Spock1 |
G |
A |
13: 57,735,472 (GRCm39) |
Q103* |
probably null |
Het |
| Tspan3 |
A |
T |
9: 56,054,803 (GRCm39) |
Y41* |
probably null |
Het |
| Ttll3 |
CAAAGTAA |
CAAAGTAAAGTAA |
6: 113,376,118 (GRCm39) |
|
probably null |
Het |
| Ttn |
T |
G |
2: 76,560,028 (GRCm39) |
I29458L |
possibly damaging |
Het |
| Tubgcp3 |
A |
G |
8: 12,705,974 (GRCm39) |
S183P |
probably benign |
Het |
| Zfat |
C |
A |
15: 68,052,757 (GRCm39) |
E346* |
probably null |
Het |
| Zfp341 |
T |
A |
2: 154,476,000 (GRCm39) |
|
probably null |
Het |
| Zfp54 |
A |
G |
17: 21,654,357 (GRCm39) |
T284A |
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 |
|
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'- GTTCCCGAAACACTGACAGTC -3'
(R):5'- AGACAGGCTTAAGTGTTCTGG -3'
Sequencing Primer
(F):5'- AGTCATTCTGCCAGCCCTCAG -3'
(R):5'- CGGAGAGGTTTTATTAGATAATGCAC -3'
|
| Posted On |
2019-11-12 |
Incidental Mutation