Incidental Mutation 'R8446:Topbp1'
| ID |
654504 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Topbp1
|
| Ensembl Gene |
ENSMUSG00000032555 |
| Gene Name |
topoisomerase (DNA) II binding protein 1 |
| Synonyms |
1110031N14Rik, 2810429C13Rik, D430026L04Rik |
| MMRRC Submission |
067827-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R8446 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
103182414-103227627 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 103186061 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Isoleucine
at position 68
(F68I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000035164
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000035164]
[ENSMUST00000142540]
[ENSMUST00000187065]
|
| AlphaFold |
Q6ZQF0 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000035164
AA Change: F68I
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000035164
Gene: ENSMUSG00000032555
AA Change: F68I
| 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 damaging
Transcript: ENSMUST00000187065
AA Change: F68I
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000139773
Gene: ENSMUSG00000032555
AA Change: F68I
| 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: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.2%
|
| 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: 47 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcf2 |
G |
A |
5: 24,771,641 (GRCm39) |
R529* |
probably null |
Het |
| Afap1 |
T |
A |
5: 36,144,645 (GRCm39) |
S122T |
|
Het |
| Arnt |
TG |
T |
3: 95,382,014 (GRCm39) |
|
probably null |
Het |
| Bbs1 |
G |
A |
19: 4,947,633 (GRCm39) |
T307I |
probably benign |
Het |
| Cacna1c |
A |
T |
6: 118,604,411 (GRCm39) |
S1439T |
|
Het |
| Camk4 |
T |
A |
18: 33,289,810 (GRCm39) |
H152Q |
probably damaging |
Het |
| Capn2 |
A |
T |
1: 182,311,796 (GRCm39) |
M426K |
possibly damaging |
Het |
| Chrm3 |
C |
T |
13: 9,928,338 (GRCm39) |
G233S |
probably damaging |
Het |
| Clca3a1 |
A |
T |
3: 144,454,248 (GRCm39) |
Y461N |
probably damaging |
Het |
| Clip1 |
G |
C |
5: 123,794,008 (GRCm39) |
P12A |
probably damaging |
Het |
| Cmya5 |
A |
G |
13: 93,230,336 (GRCm39) |
L1584P |
possibly damaging |
Het |
| Commd5 |
T |
C |
15: 76,785,094 (GRCm39) |
S164P |
probably damaging |
Het |
| Csgalnact1 |
A |
G |
8: 68,913,743 (GRCm39) |
V154A |
probably damaging |
Het |
| Ddias |
C |
A |
7: 92,515,818 (GRCm39) |
C25F |
probably damaging |
Het |
| Dnah7b |
A |
T |
1: 46,329,875 (GRCm39) |
I3240F |
probably damaging |
Het |
| Fam186a |
T |
G |
15: 99,845,335 (GRCm39) |
D303A |
unknown |
Het |
| Igkv8-27 |
A |
G |
6: 70,148,932 (GRCm39) |
I74T |
probably damaging |
Het |
| Itgb2l |
G |
T |
16: 96,233,857 (GRCm39) |
Q278K |
probably damaging |
Het |
| Itgb7 |
T |
C |
15: 102,127,043 (GRCm39) |
E464G |
probably damaging |
Het |
| Kdm2a |
G |
A |
19: 4,406,916 (GRCm39) |
Q116* |
probably null |
Het |
| Krtap5-2 |
TCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACCACAGCCCCCACAGGAACTACA |
TCCACAGGAACTACA |
7: 141,728,845 (GRCm39) |
|
probably benign |
Het |
| Larp1 |
T |
C |
11: 57,942,035 (GRCm39) |
|
probably null |
Het |
| Lnx2 |
A |
G |
5: 146,970,169 (GRCm39) |
L191S |
probably benign |
Het |
| Mtmr7 |
G |
A |
8: 41,059,927 (GRCm39) |
A62V |
possibly damaging |
Het |
| Myh4 |
T |
A |
11: 67,144,347 (GRCm39) |
M1239K |
probably benign |
Het |
| Nckap5l |
C |
A |
15: 99,323,930 (GRCm39) |
G858C |
probably benign |
Het |
| Nelfa |
A |
T |
5: 34,058,982 (GRCm39) |
L262Q |
probably damaging |
Het |
| Or2j3 |
A |
G |
17: 38,615,638 (GRCm39) |
V238A |
probably benign |
Het |
| Or8b46 |
A |
T |
9: 38,450,964 (GRCm39) |
M258L |
probably benign |
Het |
| Pdgfa |
T |
C |
5: 138,964,395 (GRCm39) |
T211A |
unknown |
Het |
| Prl3d2 |
A |
T |
13: 27,307,976 (GRCm39) |
I86F |
probably benign |
Het |
| Rpf2 |
T |
A |
10: 40,115,752 (GRCm39) |
T76S |
probably benign |
Het |
| Setbp1 |
C |
T |
18: 78,900,971 (GRCm39) |
D899N |
probably damaging |
Het |
| Slc35c1 |
T |
A |
2: 92,284,707 (GRCm39) |
E315D |
probably benign |
Het |
| Slc6a3 |
A |
T |
13: 73,719,674 (GRCm39) |
M568L |
possibly damaging |
Het |
| Sorbs1 |
T |
C |
19: 40,314,602 (GRCm39) |
M737V |
probably benign |
Het |
| Sox17 |
A |
G |
1: 4,562,316 (GRCm39) |
Y295H |
possibly damaging |
Het |
| Tex44 |
A |
T |
1: 86,354,696 (GRCm39) |
I202F |
possibly damaging |
Het |
| Tinagl1 |
C |
T |
4: 130,060,694 (GRCm39) |
|
probably null |
Het |
| Tlr4 |
T |
A |
4: 66,757,673 (GRCm39) |
N155K |
probably damaging |
Het |
| Tmem245 |
T |
C |
4: 56,906,261 (GRCm39) |
Q548R |
probably benign |
Het |
| Trim67 |
G |
T |
8: 125,520,730 (GRCm39) |
A31S |
probably damaging |
Het |
| Triobp |
C |
T |
15: 78,878,326 (GRCm39) |
H1750Y |
possibly damaging |
Het |
| Ttn |
A |
C |
2: 76,778,553 (GRCm39) |
M1316R |
unknown |
Het |
| Usp40 |
T |
C |
1: 87,906,190 (GRCm39) |
T682A |
probably benign |
Het |
| Wfs1 |
A |
T |
5: 37,128,953 (GRCm39) |
D272E |
probably benign |
Het |
| Zfp763 |
A |
T |
17: 33,238,473 (GRCm39) |
M224K |
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 |
|
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 |
|
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'- CATGCATGGGTCTAGGTGAG -3'
(R):5'- CCAAGGTACTCGTAGCACTC -3'
Sequencing Primer
(F):5'- GCTCTGAGCACTTAGTAGGAC -3'
(R):5'- GGTACTCGTAGCACTCATGATAG -3'
|
| Posted On |
2020-10-20 |
Incidental Mutation