Incidental Mutation 'IGL02335:Topbp1'
| ID |
289674 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Topbp1
|
| Ensembl Gene |
ENSMUSG00000032555 |
| Gene Name |
topoisomerase (DNA) II binding protein 1 |
| Synonyms |
D430026L04Rik, 2810429C13Rik, 1110031N14Rik |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL02335
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
9 |
| Chromosomal Location |
103305215-103350428 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 103328523 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Aspartic acid
at position 787
(N787D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000035164
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000035164]
|
| AlphaFold |
Q6ZQF0 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000035164
AA Change: N787D
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000035164
Gene: ENSMUSG00000032555
AA Change: N787D
| 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
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000186897
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000188840
|
| Coding Region Coverage |
|
| 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: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A4gnt |
C |
T |
9: 99,620,213 (GRCm38) |
T142I |
probably benign |
Het |
| Aadacl2fm2 |
G |
A |
3: 59,743,605 (GRCm38) |
M49I |
probably benign |
Het |
| Acaca |
A |
G |
11: 84,214,258 (GRCm38) |
T147A |
possibly damaging |
Het |
| Agbl3 |
A |
G |
6: 34,799,750 (GRCm38) |
D397G |
probably damaging |
Het |
| Ank1 |
C |
T |
8: 23,135,638 (GRCm38) |
T1597M |
possibly damaging |
Het |
| Arl4d |
A |
G |
11: 101,666,929 (GRCm38) |
T94A |
possibly damaging |
Het |
| Cd22 |
A |
G |
7: 30,876,134 (GRCm38) |
I161T |
probably damaging |
Het |
| Clcn7 |
C |
T |
17: 25,146,847 (GRCm38) |
L166F |
probably benign |
Het |
| Cnbd1 |
G |
T |
4: 19,055,095 (GRCm38) |
N110K |
possibly damaging |
Het |
| Col14a1 |
A |
T |
15: 55,463,769 (GRCm38) |
|
probably benign |
Het |
| Col6a6 |
C |
T |
9: 105,784,101 (GRCm38) |
V270M |
probably damaging |
Het |
| Cox8b |
C |
A |
7: 140,899,077 (GRCm38) |
G42W |
probably damaging |
Het |
| Csn1s1 |
A |
T |
5: 87,680,845 (GRCm38) |
D275V |
probably benign |
Het |
| Cubn |
T |
A |
2: 13,427,834 (GRCm38) |
|
probably null |
Het |
| Dctn2 |
T |
C |
10: 127,275,821 (GRCm38) |
|
probably benign |
Het |
| Dnm1l |
A |
G |
16: 16,342,740 (GRCm38) |
|
probably benign |
Het |
| Dpp4 |
T |
C |
2: 62,334,644 (GRCm38) |
E687G |
probably benign |
Het |
| Fbxw20 |
T |
C |
9: 109,223,309 (GRCm38) |
K249E |
possibly damaging |
Het |
| Fhl2 |
C |
T |
1: 43,128,390 (GRCm38) |
W181* |
probably null |
Het |
| G2e3 |
T |
A |
12: 51,369,158 (GRCm38) |
M559K |
probably benign |
Het |
| Gdap1l1 |
A |
T |
2: 163,447,595 (GRCm38) |
Y160F |
possibly damaging |
Het |
| Gm1110 |
T |
C |
9: 26,881,763 (GRCm38) |
I572M |
probably benign |
Het |
| Gpatch2l |
T |
A |
12: 86,256,937 (GRCm38) |
|
probably benign |
Het |
| Kcnq4 |
A |
G |
4: 120,715,854 (GRCm38) |
L250P |
probably damaging |
Het |
| Lamc2 |
A |
T |
1: 153,166,216 (GRCm38) |
N57K |
probably benign |
Het |
| Lingo1 |
A |
G |
9: 56,620,081 (GRCm38) |
L408P |
probably damaging |
Het |
| Mmrn1 |
A |
T |
6: 60,977,147 (GRCm38) |
N804I |
possibly damaging |
Het |
| Mroh7 |
A |
G |
4: 106,707,782 (GRCm38) |
L545S |
probably damaging |
Het |
| Nup188 |
T |
A |
2: 30,323,636 (GRCm38) |
|
probably null |
Het |
| Or10q1 |
A |
G |
19: 13,749,934 (GRCm38) |
D276G |
probably benign |
Het |
| Or11a4 |
A |
G |
17: 37,225,326 (GRCm38) |
N67S |
probably damaging |
Het |
| Or5b94 |
T |
C |
19: 12,674,238 (GRCm38) |
I11T |
probably damaging |
Het |
| Pls1 |
A |
T |
9: 95,784,183 (GRCm38) |
N138K |
probably benign |
Het |
| Prkch |
C |
A |
12: 73,702,512 (GRCm38) |
N345K |
probably benign |
Het |
| Reps1 |
T |
C |
10: 18,056,117 (GRCm38) |
|
probably null |
Het |
| Rrp7a |
T |
C |
15: 83,122,691 (GRCm38) |
E15G |
probably benign |
Het |
| Scart2 |
A |
T |
7: 140,296,540 (GRCm38) |
N526Y |
probably damaging |
Het |
| Scn1a |
T |
A |
2: 66,277,661 (GRCm38) |
T1557S |
possibly damaging |
Het |
| Smtn |
T |
C |
11: 3,526,215 (GRCm38) |
E602G |
probably damaging |
Het |
| Syvn1 |
T |
C |
19: 6,050,093 (GRCm38) |
|
probably null |
Het |
| Tbxas1 |
A |
G |
6: 39,023,080 (GRCm38) |
D267G |
probably damaging |
Het |
| Vmn2r22 |
T |
G |
6: 123,638,092 (GRCm38) |
S180R |
probably damaging |
Het |
| Zfp345 |
T |
A |
2: 150,474,543 (GRCm38) |
E48D |
possibly damaging |
Het |
| Zfp608 |
G |
A |
18: 54,897,437 (GRCm38) |
Q1144* |
probably null |
Het |
| Zfp936 |
T |
A |
7: 43,187,267 (GRCm38) |
L34Q |
probably damaging |
Het |
|
| Other mutations in Topbp1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00228:Topbp1
|
APN |
9 |
103,344,943 (GRCm38) |
missense |
probably benign |
|
|
IGL01524:Topbp1
|
APN |
9 |
103,311,645 (GRCm38) |
missense |
possibly damaging |
0.92 |
|
IGL02441:Topbp1
|
APN |
9 |
103,320,239 (GRCm38) |
missense |
possibly damaging |
0.49 |
|
IGL02943:Topbp1
|
APN |
9 |
103,328,440 (GRCm38) |
missense |
probably benign |
0.00 |
|
IGL02953:Topbp1
|
APN |
9 |
103,328,435 (GRCm38) |
missense |
probably benign |
0.26 |
|
IGL03040:Topbp1
|
APN |
9 |
103,328,667 (GRCm38) |
missense |
possibly damaging |
0.51 |
|
PIT4377001:Topbp1
|
UTSW |
9 |
103,309,889 (GRCm38) |
missense |
possibly damaging |
0.90 |
|
R0044:Topbp1
|
UTSW |
9 |
103,325,773 (GRCm38) |
missense |
possibly damaging |
0.94 |
|
R0344:Topbp1
|
UTSW |
9 |
103,308,733 (GRCm38) |
splice site |
probably benign |
|
|
R0344:Topbp1
|
UTSW |
9 |
103,328,687 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R0591:Topbp1
|
UTSW |
9 |
103,349,838 (GRCm38) |
missense |
probably benign |
0.01 |
|
R0666:Topbp1
|
UTSW |
9 |
103,308,812 (GRCm38) |
missense |
probably benign |
|
|
R0785:Topbp1
|
UTSW |
9 |
103,315,090 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0906:Topbp1
|
UTSW |
9 |
103,328,593 (GRCm38) |
missense |
probably benign |
0.00 |
|
R1352:Topbp1
|
UTSW |
9 |
103,347,008 (GRCm38) |
missense |
probably benign |
|
|
R1745:Topbp1
|
UTSW |
9 |
103,308,845 (GRCm38) |
missense |
probably benign |
0.36 |
|
R2104:Topbp1
|
UTSW |
9 |
103,317,982 (GRCm38) |
splice site |
probably benign |
|
|
R2166:Topbp1
|
UTSW |
9 |
103,312,929 (GRCm38) |
splice site |
probably null |
|
|
R2230:Topbp1
|
UTSW |
9 |
103,345,848 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2967:Topbp1
|
UTSW |
9 |
103,342,140 (GRCm38) |
missense |
probably benign |
0.01 |
|
R3845:Topbp1
|
UTSW |
9 |
103,309,923 (GRCm38) |
missense |
possibly damaging |
0.87 |
|
R4089:Topbp1
|
UTSW |
9 |
103,324,501 (GRCm38) |
critical splice donor site |
probably null |
|
|
R4110:Topbp1
|
UTSW |
9 |
103,309,959 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R4454:Topbp1
|
UTSW |
9 |
103,344,871 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4521:Topbp1
|
UTSW |
9 |
103,334,202 (GRCm38) |
intron |
probably benign |
|
|
R4745:Topbp1
|
UTSW |
9 |
103,323,571 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4923:Topbp1
|
UTSW |
9 |
103,312,836 (GRCm38) |
missense |
probably benign |
0.00 |
|
R4934:Topbp1
|
UTSW |
9 |
103,328,369 (GRCm38) |
unclassified |
probably benign |
|
|
R4963:Topbp1
|
UTSW |
9 |
103,320,605 (GRCm38) |
missense |
probably benign |
0.04 |
|
R5199:Topbp1
|
UTSW |
9 |
103,346,672 (GRCm38) |
unclassified |
probably benign |
|
|
R5461:Topbp1
|
UTSW |
9 |
103,315,196 (GRCm38) |
missense |
probably benign |
0.00 |
|
R5517:Topbp1
|
UTSW |
9 |
103,336,114 (GRCm38) |
missense |
probably benign |
0.03 |
|
R5563:Topbp1
|
UTSW |
9 |
103,311,513 (GRCm38) |
missense |
possibly damaging |
0.46 |
|
R5564:Topbp1
|
UTSW |
9 |
103,334,078 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5683:Topbp1
|
UTSW |
9 |
103,312,804 (GRCm38) |
missense |
possibly damaging |
0.93 |
|
R5774:Topbp1
|
UTSW |
9 |
103,328,499 (GRCm38) |
missense |
probably benign |
0.06 |
|
R5785:Topbp1
|
UTSW |
9 |
103,323,528 (GRCm38) |
missense |
probably benign |
0.00 |
|
R6029:Topbp1
|
UTSW |
9 |
103,344,953 (GRCm38) |
missense |
probably benign |
0.00 |
|
R6077:Topbp1
|
UTSW |
9 |
103,332,990 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6122:Topbp1
|
UTSW |
9 |
103,346,961 (GRCm38) |
missense |
probably benign |
0.06 |
|
R6133:Topbp1
|
UTSW |
9 |
103,311,764 (GRCm38) |
splice site |
probably null |
|
|
R6213:Topbp1
|
UTSW |
9 |
103,332,751 (GRCm38) |
missense |
probably benign |
0.12 |
|
R6773:Topbp1
|
UTSW |
9 |
103,343,692 (GRCm38) |
missense |
possibly damaging |
0.90 |
|
R6922:Topbp1
|
UTSW |
9 |
103,335,846 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6938:Topbp1
|
UTSW |
9 |
103,328,554 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7305:Topbp1
|
UTSW |
9 |
103,328,637 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7419:Topbp1
|
UTSW |
9 |
103,323,344 (GRCm38) |
missense |
probably benign |
|
|
R7517:Topbp1
|
UTSW |
9 |
103,332,733 (GRCm38) |
missense |
possibly damaging |
0.82 |
|
R7605:Topbp1
|
UTSW |
9 |
103,332,706 (GRCm38) |
missense |
probably benign |
0.41 |
|
R7701:Topbp1
|
UTSW |
9 |
103,332,985 (GRCm38) |
missense |
probably damaging |
0.96 |
|
R7741:Topbp1
|
UTSW |
9 |
103,320,557 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R8115:Topbp1
|
UTSW |
9 |
103,320,541 (GRCm38) |
missense |
probably benign |
|
|
R8177:Topbp1
|
UTSW |
9 |
103,320,541 (GRCm38) |
missense |
probably benign |
0.01 |
|
R8269:Topbp1
|
UTSW |
9 |
103,328,593 (GRCm38) |
missense |
possibly damaging |
0.67 |
|
R8446:Topbp1
|
UTSW |
9 |
103,308,862 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8520:Topbp1
|
UTSW |
9 |
103,308,977 (GRCm38) |
splice site |
probably null |
|
|
R8547:Topbp1
|
UTSW |
9 |
103,336,065 (GRCm38) |
missense |
probably benign |
0.00 |
|
R8549:Topbp1
|
UTSW |
9 |
103,324,378 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9003:Topbp1
|
UTSW |
9 |
103,323,528 (GRCm38) |
missense |
probably benign |
0.00 |
|
R9006:Topbp1
|
UTSW |
9 |
103,305,300 (GRCm38) |
unclassified |
probably benign |
|
|
R9163:Topbp1
|
UTSW |
9 |
103,328,568 (GRCm38) |
missense |
probably benign |
|
|
R9584:Topbp1
|
UTSW |
9 |
103,342,043 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9763:Topbp1
|
UTSW |
9 |
103,346,724 (GRCm38) |
missense |
probably benign |
0.00 |
|
| Posted On |
2015-04-16 |
Incidental Mutation