Incidental Mutation 'R0591:Topbp1'
| ID |
55984 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Topbp1
|
| Ensembl Gene |
ENSMUSG00000032555 |
| Gene Name |
topoisomerase (DNA) II binding protein 1 |
| Synonyms |
1110031N14Rik, 2810429C13Rik, D430026L04Rik |
| MMRRC Submission |
038781-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R0591 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
103182414-103227627 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 103227037 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Lysine
at position 1490
(N1490K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000035164
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000035164]
[ENSMUST00000035484]
[ENSMUST00000072249]
[ENSMUST00000116517]
[ENSMUST00000185305]
[ENSMUST00000190226]
|
| AlphaFold |
Q6ZQF0 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000035164
AA Change: N1490K
PolyPhen 2
Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000035164
Gene: ENSMUSG00000032555
AA Change: N1490K
| 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: ENSMUST00000035484
|
| SMART Domains |
Protein: ENSMUSP00000044420
Gene: ENSMUSG00000032803
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
14 |
100 |
N/A |
INTRINSIC |
|
Pfam:CDV3
|
106 |
226 |
3.4e-41 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000072249
|
| SMART Domains |
Protein: ENSMUSP00000072101
Gene: ENSMUSG00000032803
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
14 |
100 |
N/A |
INTRINSIC |
|
Pfam:CDV3
|
105 |
231 |
7.4e-69 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000116517
|
| SMART Domains |
Protein: ENSMUSP00000112216
Gene: ENSMUSG00000032803
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:CDV3
|
1 |
104 |
2.9e-55 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000185305
|
| SMART Domains |
Protein: ENSMUSP00000140862
Gene: ENSMUSG00000032555
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:BRCT
|
30 |
59 |
2e-14 |
BLAST |
|
PDB:3AL3|A
|
32 |
59 |
1e-8 |
PDB |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000185972
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000189349
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000190712
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000190226
|
| SMART Domains |
Protein: ENSMUSP00000140900
Gene: ENSMUSG00000032803
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:CDV3
|
1 |
104 |
1.3e-51 |
PFAM |
|
| Meta Mutation Damage Score |
0.0746 |
| Coding Region Coverage |
- 1x: 99.7%
- 3x: 99.2%
- 10x: 97.7%
- 20x: 95.3%
|
| Validation Efficiency |
100% (62/62) |
| 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: 59 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1110002E22Rik |
G |
T |
3: 137,774,704 (GRCm39) |
E1298* |
probably null |
Het |
| Aadacl2fm2 |
C |
A |
3: 59,659,550 (GRCm39) |
Y334* |
probably null |
Het |
| Adam19 |
T |
C |
11: 46,012,238 (GRCm39) |
|
probably benign |
Het |
| Agt |
A |
T |
8: 125,283,678 (GRCm39) |
S480R |
possibly damaging |
Het |
| Anapc1 |
G |
T |
2: 128,461,252 (GRCm39) |
D1769E |
probably benign |
Het |
| Aox4 |
T |
C |
1: 58,278,261 (GRCm39) |
|
probably benign |
Het |
| Apol9b |
G |
A |
15: 77,619,830 (GRCm39) |
V209I |
possibly damaging |
Het |
| Appl2 |
A |
T |
10: 83,460,509 (GRCm39) |
I116K |
possibly damaging |
Het |
| BC051665 |
A |
G |
13: 60,932,422 (GRCm39) |
|
probably benign |
Het |
| Cactin |
G |
T |
10: 81,159,837 (GRCm39) |
E89* |
probably null |
Het |
| Carf |
G |
T |
1: 60,165,073 (GRCm39) |
|
probably benign |
Het |
| Ccdc167 |
A |
G |
17: 29,924,235 (GRCm39) |
|
probably benign |
Het |
| Ceacam3 |
G |
A |
7: 16,885,808 (GRCm39) |
|
probably null |
Het |
| Clca4b |
T |
A |
3: 144,621,353 (GRCm39) |
K574* |
probably null |
Het |
| Crabp1 |
T |
A |
9: 54,672,887 (GRCm39) |
I64N |
probably damaging |
Het |
| Dgkd |
T |
A |
1: 87,842,826 (GRCm39) |
I118N |
probably damaging |
Het |
| Dglucy |
T |
C |
12: 100,825,777 (GRCm39) |
|
probably benign |
Het |
| Dock10 |
C |
T |
1: 80,518,936 (GRCm39) |
|
probably benign |
Het |
| Ednrb |
A |
T |
14: 104,060,710 (GRCm39) |
|
probably null |
Het |
| Ercc6 |
T |
C |
14: 32,279,973 (GRCm39) |
|
probably benign |
Het |
| Golga3 |
A |
C |
5: 110,336,609 (GRCm39) |
Q416P |
probably damaging |
Het |
| Gpr12 |
A |
G |
5: 146,520,445 (GRCm39) |
V159A |
probably benign |
Het |
| Heatr5a |
A |
T |
12: 51,956,884 (GRCm39) |
|
probably benign |
Het |
| Helz2 |
A |
G |
2: 180,873,909 (GRCm39) |
I2195T |
probably damaging |
Het |
| Hikeshi |
A |
T |
7: 89,569,295 (GRCm39) |
N76K |
possibly damaging |
Het |
| Hsd11b1 |
T |
C |
1: 192,911,984 (GRCm39) |
|
probably benign |
Het |
| Iftap |
A |
T |
2: 101,406,462 (GRCm39) |
D155E |
probably benign |
Het |
| Inhba |
A |
T |
13: 16,201,405 (GRCm39) |
K322N |
probably damaging |
Het |
| Katnal1 |
A |
T |
5: 148,829,326 (GRCm39) |
F291L |
probably damaging |
Het |
| Kcnj9 |
T |
C |
1: 172,150,665 (GRCm39) |
E316G |
probably damaging |
Het |
| Lrsam1 |
A |
G |
2: 32,823,935 (GRCm39) |
|
probably benign |
Het |
| Mcf2l |
T |
G |
8: 13,068,751 (GRCm39) |
S1075A |
probably benign |
Het |
| Mios |
T |
C |
6: 8,215,470 (GRCm39) |
V222A |
possibly damaging |
Het |
| Mycbp2 |
A |
T |
14: 103,433,827 (GRCm39) |
|
probably benign |
Het |
| Nars1 |
A |
T |
18: 64,633,638 (GRCm39) |
I544N |
probably damaging |
Het |
| Or5ak23 |
A |
G |
2: 85,245,034 (GRCm39) |
L63P |
possibly damaging |
Het |
| Pbrm1 |
A |
G |
14: 30,768,387 (GRCm39) |
|
probably benign |
Het |
| Plcb4 |
A |
G |
2: 135,796,932 (GRCm39) |
|
probably benign |
Het |
| Pnliprp1 |
A |
G |
19: 58,723,138 (GRCm39) |
D213G |
probably damaging |
Het |
| Psap |
A |
G |
10: 60,136,634 (GRCm39) |
N538D |
possibly damaging |
Het |
| Ptdss1 |
A |
G |
13: 67,120,714 (GRCm39) |
|
probably benign |
Het |
| Rap1b |
G |
A |
10: 117,654,522 (GRCm39) |
|
probably benign |
Het |
| Rhcg |
T |
A |
7: 79,244,520 (GRCm39) |
|
probably benign |
Het |
| Ryr1 |
G |
A |
7: 28,804,220 (GRCm39) |
T550I |
possibly damaging |
Het |
| Samm50 |
G |
A |
15: 84,095,369 (GRCm39) |
G452R |
probably benign |
Het |
| Scin |
A |
G |
12: 40,130,929 (GRCm39) |
|
probably null |
Het |
| Sesn3 |
T |
C |
9: 14,219,854 (GRCm39) |
L81S |
probably damaging |
Het |
| Skint6 |
A |
C |
4: 112,715,366 (GRCm39) |
|
probably benign |
Het |
| Slc30a4 |
A |
T |
2: 122,527,160 (GRCm39) |
L411H |
probably damaging |
Het |
| Slc44a5 |
C |
T |
3: 153,939,782 (GRCm39) |
|
probably benign |
Het |
| Slc4a3 |
C |
T |
1: 75,525,665 (GRCm39) |
A255V |
probably damaging |
Het |
| Slc9b1 |
A |
G |
3: 135,088,593 (GRCm39) |
N318S |
possibly damaging |
Het |
| Tcp11l2 |
A |
T |
10: 84,440,458 (GRCm39) |
H287L |
probably benign |
Het |
| Tex10 |
C |
T |
4: 48,456,800 (GRCm39) |
R637Q |
probably benign |
Het |
| Tnks2 |
T |
A |
19: 36,849,962 (GRCm39) |
Y605N |
probably damaging |
Het |
| Ube4b |
T |
G |
4: 149,442,034 (GRCm39) |
|
probably benign |
Het |
| Usp4 |
G |
A |
9: 108,225,228 (GRCm39) |
|
probably benign |
Het |
| Vezf1 |
A |
T |
11: 88,068,435 (GRCm38) |
|
probably benign |
Het |
| Vmn1r184 |
A |
T |
7: 25,966,500 (GRCm39) |
D82V |
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 |
|
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'- AGCCATGCTTTACCTGAACTTTGACC -3'
(R):5'- TCATTGTTAAACTCTCTGCTCAGGCTG -3'
Sequencing Primer
(F):5'- ACCCACTGGCAAGCTTTGAG -3'
(R):5'- TGCATCACAGCAATGTTCAGG -3'
|
| Posted On |
2013-07-11 |
Incidental Mutation