Incidental Mutation 'IGL02441:Topbp1'
| ID |
293993 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| 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 # |
IGL02441
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
9 |
| Chromosomal Location |
103182414-103227627 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 103197438 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 386
(V386A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000035164
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000035164]
|
| AlphaFold |
Q6ZQF0 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000035164
AA Change: V386A
PolyPhen 2
Score 0.489 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000035164
Gene: ENSMUSG00000032555
AA Change: V386A
| 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 |
|
| 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: 58 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Alg8 |
C |
T |
7: 97,029,504 (GRCm39) |
R179C |
probably benign |
Het |
| Als2 |
A |
G |
1: 59,254,631 (GRCm39) |
M242T |
probably damaging |
Het |
| Atad1 |
C |
T |
19: 32,684,348 (GRCm39) |
V17I |
probably benign |
Het |
| Bag4 |
A |
G |
8: 26,258,136 (GRCm39) |
V397A |
probably damaging |
Het |
| Brd7 |
A |
G |
8: 89,070,218 (GRCm39) |
V396A |
probably damaging |
Het |
| Cdc45 |
C |
T |
16: 18,617,479 (GRCm39) |
M200I |
probably benign |
Het |
| Cdhr4 |
T |
A |
9: 107,870,466 (GRCm39) |
I123N |
possibly damaging |
Het |
| Cep68 |
A |
G |
11: 20,189,186 (GRCm39) |
F609L |
probably benign |
Het |
| Clec3b |
C |
A |
9: 122,980,178 (GRCm39) |
P24T |
possibly damaging |
Het |
| Ctsg |
T |
A |
14: 56,339,869 (GRCm39) |
T9S |
probably benign |
Het |
| Dalrd3 |
A |
T |
9: 108,448,725 (GRCm39) |
|
probably benign |
Het |
| Dock6 |
A |
T |
9: 21,753,222 (GRCm39) |
V286E |
possibly damaging |
Het |
| Dpep2 |
G |
A |
8: 106,711,723 (GRCm39) |
A568V |
probably benign |
Het |
| Dph5 |
A |
C |
3: 115,720,390 (GRCm39) |
Q192P |
possibly damaging |
Het |
| Eppin |
T |
A |
2: 164,433,698 (GRCm39) |
R37* |
probably null |
Het |
| Esyt1 |
A |
G |
10: 128,348,293 (GRCm39) |
L865P |
possibly damaging |
Het |
| Exoc6b |
A |
G |
6: 84,981,990 (GRCm39) |
L102P |
probably damaging |
Het |
| Foxo6 |
A |
G |
4: 120,125,232 (GRCm39) |
I521T |
possibly damaging |
Het |
| Guca1a |
A |
T |
17: 47,705,578 (GRCm39) |
|
probably benign |
Het |
| Hpx |
A |
G |
7: 105,241,430 (GRCm39) |
F327S |
probably damaging |
Het |
| Hspa12b |
A |
G |
2: 130,980,515 (GRCm39) |
M145V |
probably null |
Het |
| Hspa4 |
A |
T |
11: 53,161,809 (GRCm39) |
S448T |
probably benign |
Het |
| Kbtbd6 |
T |
C |
14: 79,690,759 (GRCm39) |
Y422H |
probably benign |
Het |
| Lama4 |
A |
T |
10: 38,937,441 (GRCm39) |
D677V |
probably benign |
Het |
| Ldb1 |
C |
T |
19: 46,024,195 (GRCm39) |
E111K |
probably damaging |
Het |
| Macf1 |
A |
G |
4: 123,281,029 (GRCm39) |
S3823P |
probably damaging |
Het |
| Man1a2 |
G |
A |
3: 100,499,189 (GRCm39) |
T415I |
probably benign |
Het |
| Map3k2 |
T |
C |
18: 32,333,099 (GRCm39) |
|
probably benign |
Het |
| Morn5 |
T |
A |
2: 35,945,038 (GRCm39) |
Y87* |
probably null |
Het |
| Mpp3 |
T |
C |
11: 101,900,501 (GRCm39) |
D326G |
probably benign |
Het |
| Mrgprx1 |
T |
C |
7: 47,671,336 (GRCm39) |
H137R |
probably benign |
Het |
| Nav2 |
C |
A |
7: 49,102,260 (GRCm39) |
P292T |
probably damaging |
Het |
| Nlrp2 |
C |
A |
7: 5,338,566 (GRCm39) |
|
probably null |
Het |
| Noxo1 |
G |
A |
17: 24,918,030 (GRCm39) |
S112N |
probably damaging |
Het |
| Nudt9 |
G |
T |
5: 104,212,885 (GRCm39) |
K319N |
probably benign |
Het |
| Or8b38 |
A |
T |
9: 37,973,233 (GRCm39) |
I206L |
probably benign |
Het |
| Osbpl7 |
C |
A |
11: 96,958,528 (GRCm39) |
Q728K |
probably damaging |
Het |
| Pcsk1 |
A |
T |
13: 75,280,282 (GRCm39) |
E702D |
probably benign |
Het |
| Piezo2 |
T |
C |
18: 63,205,933 (GRCm39) |
D1492G |
probably damaging |
Het |
| Plekhg1 |
A |
G |
10: 3,908,103 (GRCm39) |
K1007E |
possibly damaging |
Het |
| Ppp6r3 |
G |
A |
19: 3,514,693 (GRCm39) |
P141S |
probably benign |
Het |
| Prrt3 |
T |
C |
6: 113,473,977 (GRCm39) |
T354A |
probably damaging |
Het |
| Ptk2 |
C |
A |
15: 73,192,675 (GRCm39) |
W181L |
probably benign |
Het |
| Rif1 |
T |
A |
2: 51,995,527 (GRCm39) |
H915Q |
probably benign |
Het |
| Selenbp2 |
G |
T |
3: 94,611,371 (GRCm39) |
V361L |
probably benign |
Het |
| Slamf7 |
A |
G |
1: 171,468,625 (GRCm39) |
L89P |
probably damaging |
Het |
| Slc6a21 |
G |
A |
7: 44,937,505 (GRCm39) |
V599M |
probably damaging |
Het |
| Sltm |
G |
T |
9: 70,494,467 (GRCm39) |
S921I |
probably damaging |
Het |
| Smc4 |
C |
A |
3: 68,913,544 (GRCm39) |
A44E |
probably damaging |
Het |
| Tdrd5 |
A |
T |
1: 156,087,513 (GRCm39) |
|
probably benign |
Het |
| Tead2 |
T |
A |
7: 44,866,845 (GRCm39) |
I68N |
probably damaging |
Het |
| Tnks1bp1 |
T |
A |
2: 84,902,143 (GRCm39) |
S1680T |
probably damaging |
Het |
| Tpx2 |
C |
A |
2: 152,724,207 (GRCm39) |
P328T |
possibly damaging |
Het |
| Ttn |
T |
A |
2: 76,576,332 (GRCm39) |
I24854F |
probably damaging |
Het |
| Zbtb11 |
G |
A |
16: 55,794,552 (GRCm39) |
R43H |
possibly damaging |
Het |
| Zfp609 |
A |
G |
9: 65,610,611 (GRCm39) |
L784S |
possibly damaging |
Het |
| Zfp703 |
T |
C |
8: 27,470,036 (GRCm39) |
S567P |
probably damaging |
Het |
| Zfp750 |
A |
G |
11: 121,404,455 (GRCm39) |
I140T |
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 |
|
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 |
|
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 |
|
| Posted On |
2015-04-16 |
Incidental Mutation