Incidental Mutation 'PIT4377001:Topbp1'
| ID |
554932 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Topbp1
|
| Ensembl Gene |
ENSMUSG00000032555 |
| Gene Name |
topoisomerase (DNA) II binding protein 1 |
| Synonyms |
1110031N14Rik, 2810429C13Rik, D430026L04Rik |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
PIT4377001 (G1)
|
| Quality Score |
213.009 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
103182414-103227627 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 103187088 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Lysine
at position 98
(E98K)
|
| 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: E98K
PolyPhen 2
Score 0.900 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000035164
Gene: ENSMUSG00000032555
AA Change: E98K
| 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: E98K
PolyPhen 2
Score 0.900 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000139773
Gene: ENSMUSG00000032555
AA Change: E98K
| 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: 92.9%
- 3x: 90.8%
- 10x: 85.9%
- 20x: 75.6%
|
| 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: 61 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700009N14Rik |
T |
C |
4: 39,451,129 (GRCm39) |
C112R |
possibly damaging |
Het |
| Acadl |
G |
A |
1: 66,877,564 (GRCm39) |
T329M |
probably damaging |
Het |
| Adgrv1 |
A |
G |
13: 81,677,104 (GRCm39) |
L1909P |
probably damaging |
Het |
| Aff3 |
A |
C |
1: 38,578,044 (GRCm39) |
V31G |
probably damaging |
Het |
| Bag3 |
A |
G |
7: 128,147,441 (GRCm39) |
D352G |
probably damaging |
Het |
| Bcas3 |
A |
T |
11: 85,386,668 (GRCm39) |
T368S |
probably damaging |
Het |
| Bmp3 |
A |
G |
5: 99,027,608 (GRCm39) |
I434V |
unknown |
Het |
| Casq1 |
T |
A |
1: 172,039,568 (GRCm39) |
T336S |
probably benign |
Het |
| Cib2 |
T |
G |
9: 54,467,271 (GRCm39) |
E11A |
probably damaging |
Het |
| Cttn |
C |
A |
7: 143,993,833 (GRCm39) |
E393D |
possibly damaging |
Het |
| Dchs1 |
G |
A |
7: 105,406,795 (GRCm39) |
R2237W |
probably damaging |
Het |
| Dclre1a |
C |
T |
19: 56,532,837 (GRCm39) |
A586T |
probably benign |
Het |
| Defb1 |
C |
A |
8: 22,266,716 (GRCm39) |
Q17K |
possibly damaging |
Het |
| Dgat2 |
T |
C |
7: 98,806,342 (GRCm39) |
Y285C |
probably damaging |
Het |
| Dhx57 |
A |
T |
17: 80,571,404 (GRCm39) |
F732Y |
probably damaging |
Het |
| Dock2 |
T |
G |
11: 34,611,835 (GRCm39) |
D176A |
probably benign |
Het |
| Epha6 |
A |
G |
16: 60,025,915 (GRCm39) |
I509T |
probably damaging |
Het |
| Fblim1 |
C |
T |
4: 141,322,720 (GRCm39) |
R21H |
probably damaging |
Het |
| Fbxw20 |
T |
A |
9: 109,050,795 (GRCm39) |
H371L |
probably benign |
Het |
| Foxa1 |
T |
A |
12: 57,589,567 (GRCm39) |
I218F |
probably damaging |
Het |
| Fstl1 |
A |
T |
16: 37,636,167 (GRCm39) |
I53F |
probably benign |
Het |
| Gdnf |
A |
G |
15: 7,864,011 (GRCm39) |
R141G |
probably benign |
Het |
| Gemin7 |
G |
A |
7: 19,299,242 (GRCm39) |
R118* |
probably null |
Het |
| Gm43218 |
T |
C |
6: 70,217,565 (GRCm39) |
T64A |
probably benign |
Het |
| Gnat3 |
G |
A |
5: 18,220,557 (GRCm39) |
M243I |
|
Het |
| Gramd1a |
A |
T |
7: 30,843,095 (GRCm39) |
I71N |
possibly damaging |
Het |
| H4c12 |
C |
G |
13: 21,934,654 (GRCm39) |
G8R |
unknown |
Het |
| Htt |
A |
T |
5: 35,033,309 (GRCm39) |
D1859V |
probably benign |
Het |
| Hyal1 |
T |
C |
9: 107,456,468 (GRCm39) |
F415S |
probably damaging |
Het |
| Ighv1-47 |
T |
C |
12: 114,954,858 (GRCm39) |
N74S |
probably benign |
Het |
| Igkv1-131 |
T |
C |
6: 67,743,192 (GRCm39) |
R64G |
probably benign |
Het |
| Itgb1 |
T |
A |
8: 129,436,864 (GRCm39) |
V95D |
probably damaging |
Het |
| Jak1 |
A |
C |
4: 101,036,748 (GRCm39) |
N297K |
probably benign |
Het |
| Kcna4 |
T |
A |
2: 107,127,205 (GRCm39) |
N646K |
possibly damaging |
Het |
| Krt42 |
A |
G |
11: 100,153,931 (GRCm39) |
S442P |
probably damaging |
Het |
| Mcm3ap |
G |
A |
10: 76,338,596 (GRCm39) |
S1408N |
possibly damaging |
Het |
| Mdga2 |
T |
A |
12: 66,763,469 (GRCm39) |
Q278L |
probably damaging |
Het |
| Mkln1 |
C |
T |
6: 31,451,289 (GRCm39) |
T410M |
probably damaging |
Het |
| Nav3 |
T |
C |
10: 109,552,466 (GRCm39) |
E1792G |
probably damaging |
Het |
| Ndrg1 |
A |
G |
15: 66,820,288 (GRCm39) |
C49R |
probably benign |
Het |
| Neurl4 |
A |
G |
11: 69,801,232 (GRCm39) |
H1201R |
probably benign |
Het |
| Nfasc |
T |
C |
1: 132,510,804 (GRCm39) |
Y1073C |
unknown |
Het |
| Nrbp2 |
A |
G |
15: 75,958,945 (GRCm39) |
Y253H |
probably benign |
Het |
| Or10c1 |
T |
A |
17: 37,521,980 (GRCm39) |
I255F |
probably benign |
Het |
| Or4g16 |
T |
A |
2: 111,137,225 (GRCm39) |
V225D |
probably damaging |
Het |
| Or4k45 |
T |
C |
2: 111,395,556 (GRCm39) |
T78A |
probably damaging |
Het |
| Pcsk5 |
A |
T |
19: 17,416,466 (GRCm39) |
C1661S |
probably damaging |
Het |
| Qsox2 |
T |
G |
2: 26,110,924 (GRCm39) |
D147A |
probably damaging |
Het |
| Siglec15 |
T |
A |
18: 78,100,590 (GRCm39) |
|
probably benign |
Het |
| Skint5 |
T |
A |
4: 113,454,900 (GRCm39) |
T1011S |
unknown |
Het |
| Slc9a2 |
A |
G |
1: 40,783,001 (GRCm39) |
T422A |
probably damaging |
Het |
| Tert |
C |
T |
13: 73,776,380 (GRCm39) |
T377I |
possibly damaging |
Het |
| Tex15 |
T |
A |
8: 34,061,129 (GRCm39) |
S186R |
probably damaging |
Het |
| Tgfb1 |
A |
G |
7: 25,396,343 (GRCm39) |
D212G |
probably benign |
Het |
| Tnc |
T |
G |
4: 63,935,973 (GRCm39) |
D321A |
probably damaging |
Het |
| Ugp2 |
C |
A |
11: 21,320,203 (GRCm39) |
M1I |
probably null |
Het |
| Vipr2 |
G |
A |
12: 116,058,418 (GRCm39) |
D112N |
probably benign |
Het |
| Vps13a |
T |
C |
19: 16,718,265 (GRCm39) |
E485G |
probably damaging |
Het |
| Vps37a |
T |
A |
8: 40,990,087 (GRCm39) |
I198N |
possibly damaging |
Het |
| Zbtb9 |
T |
C |
17: 27,193,735 (GRCm39) |
V380A |
probably damaging |
Het |
| Zfhx4 |
G |
C |
3: 5,307,802 (GRCm39) |
V343L |
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 |
|
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 |
|
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'- AAGTCTGCTGGCTGTGAAC -3'
Sequencing Primer
(F):5'- TGCTTGCTTGAGAAATTATGTGATAG -3'
(R):5'- TGAACCCCACGTGTGAGG -3'
|
| Posted On |
2019-06-07 |
Incidental Mutation