Incidental Mutation 'R0044:Topbp1'
| ID |
32885 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Topbp1
|
| Ensembl Gene |
ENSMUSG00000032555 |
| Gene Name |
topoisomerase (DNA) II binding protein 1 |
| Synonyms |
1110031N14Rik, 2810429C13Rik, D430026L04Rik |
| MMRRC Submission |
038338-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R0044 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
(trace)
|
| Chromosome |
9 |
| Chromosomal Location |
103182414-103227627 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 103202972 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Asparagine
at position 721
(I721N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000035164
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000035164]
|
| AlphaFold |
Q6ZQF0 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000035164
AA Change: I721N
PolyPhen 2
Score 0.935 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000035164
Gene: ENSMUSG00000032555
AA Change: I721N
| 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 |
noncoding transcript
Transcript: ENSMUST00000186897
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000188840
|
| Meta Mutation Damage Score |
0.1795 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.4%
- 10x: 96.6%
- 20x: 93.6%
|
| Validation Efficiency |
100% (77/77) |
| 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: 70 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 6430571L13Rik |
A |
C |
9: 107,219,698 (GRCm39) |
R50S |
probably damaging |
Het |
| Actn2 |
G |
T |
13: 12,290,013 (GRCm39) |
T176N |
possibly damaging |
Het |
| Adamts7 |
T |
C |
9: 90,053,641 (GRCm39) |
V62A |
possibly damaging |
Het |
| Adcy2 |
A |
G |
13: 68,876,018 (GRCm39) |
S495P |
possibly damaging |
Het |
| Agbl3 |
A |
T |
6: 34,776,834 (GRCm39) |
M447L |
probably damaging |
Het |
| Asxl1 |
C |
T |
2: 153,242,129 (GRCm39) |
T893I |
probably benign |
Het |
| Atp11b |
T |
A |
3: 35,866,401 (GRCm39) |
I400N |
probably damaging |
Het |
| Bpifb2 |
C |
T |
2: 153,724,599 (GRCm39) |
|
probably benign |
Het |
| Capn1 |
T |
A |
19: 6,064,373 (GRCm39) |
Y42F |
probably benign |
Het |
| Cdk5rap2 |
A |
T |
4: 70,279,138 (GRCm39) |
L190H |
probably damaging |
Het |
| Cfap54 |
T |
C |
10: 92,871,295 (GRCm39) |
I594V |
probably null |
Het |
| Cpsf1 |
A |
G |
15: 76,483,753 (GRCm39) |
V830A |
probably benign |
Het |
| Cyp2c70 |
T |
A |
19: 40,153,815 (GRCm39) |
N258I |
possibly damaging |
Het |
| Dctn1 |
T |
G |
6: 83,168,116 (GRCm39) |
Y386D |
probably damaging |
Het |
| Degs2 |
T |
C |
12: 108,658,413 (GRCm39) |
N189D |
probably damaging |
Het |
| Dido1 |
C |
T |
2: 180,303,612 (GRCm39) |
A1431T |
probably damaging |
Het |
| Diras1 |
G |
T |
10: 80,857,972 (GRCm39) |
S93* |
probably null |
Het |
| E130308A19Rik |
T |
A |
4: 59,690,290 (GRCm39) |
H41Q |
possibly damaging |
Het |
| Ebf2 |
C |
T |
14: 67,548,417 (GRCm39) |
|
probably benign |
Het |
| Fcho2 |
A |
G |
13: 98,892,052 (GRCm39) |
|
probably benign |
Het |
| Gbe1 |
T |
A |
16: 70,358,020 (GRCm39) |
Y681* |
probably null |
Het |
| Gm10036 |
A |
C |
18: 15,965,873 (GRCm39) |
K8T |
probably benign |
Het |
| Herc1 |
T |
A |
9: 66,355,457 (GRCm39) |
M2236K |
probably benign |
Het |
| Hmcn2 |
A |
T |
2: 31,302,520 (GRCm39) |
Y2948F |
probably damaging |
Het |
| Jakmip2 |
A |
T |
18: 43,715,170 (GRCm39) |
C119S |
probably benign |
Het |
| Kif1b |
A |
G |
4: 149,348,058 (GRCm39) |
|
probably benign |
Het |
| Kif6 |
T |
C |
17: 50,139,284 (GRCm39) |
|
probably benign |
Het |
| Lpin1 |
A |
T |
12: 16,618,530 (GRCm39) |
|
probably benign |
Het |
| Lrp2 |
T |
C |
2: 69,357,899 (GRCm39) |
I377V |
probably benign |
Het |
| Mavs |
C |
A |
2: 131,083,944 (GRCm39) |
T147N |
probably damaging |
Het |
| Mcoln2 |
C |
T |
3: 145,889,316 (GRCm39) |
T374M |
probably damaging |
Het |
| Mreg |
T |
G |
1: 72,201,534 (GRCm39) |
T153P |
probably damaging |
Het |
| Naglu |
T |
C |
11: 100,962,043 (GRCm39) |
I172T |
probably damaging |
Het |
| Odad4 |
A |
T |
11: 100,457,827 (GRCm39) |
I477F |
probably damaging |
Het |
| Ogdhl |
T |
C |
14: 32,061,285 (GRCm39) |
V492A |
possibly damaging |
Het |
| Or4a72 |
A |
G |
2: 89,405,974 (GRCm39) |
I32T |
possibly damaging |
Het |
| Parvg |
A |
G |
15: 84,222,083 (GRCm39) |
E323G |
probably benign |
Het |
| Pgap1 |
A |
G |
1: 54,532,527 (GRCm39) |
L664S |
probably damaging |
Het |
| Pgm2l1 |
A |
G |
7: 99,899,539 (GRCm39) |
N51S |
probably benign |
Het |
| Pik3r6 |
A |
G |
11: 68,435,576 (GRCm39) |
T609A |
probably benign |
Het |
| Plcb4 |
T |
A |
2: 135,813,776 (GRCm39) |
V705E |
probably damaging |
Het |
| Plppr5 |
T |
A |
3: 117,465,538 (GRCm39) |
|
probably null |
Het |
| Prkg2 |
C |
A |
5: 99,120,989 (GRCm39) |
D411Y |
probably damaging |
Het |
| Ptprd |
A |
G |
4: 76,004,566 (GRCm39) |
V63A |
probably benign |
Het |
| Ptprz1 |
T |
A |
6: 23,007,402 (GRCm39) |
I1655N |
probably damaging |
Het |
| Raf1 |
T |
A |
6: 115,600,476 (GRCm39) |
D10V |
probably benign |
Het |
| Rexo1 |
T |
A |
10: 80,380,212 (GRCm39) |
Q928L |
probably benign |
Het |
| Rpl7l1 |
A |
C |
17: 47,089,456 (GRCm39) |
|
probably null |
Het |
| Rrm2b |
A |
G |
15: 37,953,932 (GRCm39) |
S39P |
possibly damaging |
Het |
| Scn5a |
A |
G |
9: 119,321,113 (GRCm39) |
|
probably null |
Het |
| Sgtb |
A |
G |
13: 104,265,768 (GRCm39) |
T93A |
probably benign |
Het |
| Sigirr |
G |
T |
7: 140,672,226 (GRCm39) |
|
probably null |
Het |
| Slc16a7 |
T |
C |
10: 125,063,951 (GRCm39) |
D462G |
probably benign |
Het |
| Slc25a30 |
C |
T |
14: 76,007,089 (GRCm39) |
A85T |
probably benign |
Het |
| Spata24 |
A |
G |
18: 35,789,887 (GRCm39) |
S167P |
probably damaging |
Het |
| Spock3 |
C |
T |
8: 63,597,041 (GRCm39) |
T115I |
possibly damaging |
Het |
| Srgap2 |
A |
G |
1: 131,247,289 (GRCm39) |
I581T |
possibly damaging |
Het |
| Syn2 |
A |
T |
6: 115,112,108 (GRCm39) |
M23L |
unknown |
Het |
| Synrg |
G |
A |
11: 83,900,007 (GRCm39) |
V839I |
probably damaging |
Het |
| Tmtc1 |
A |
G |
6: 148,314,327 (GRCm39) |
|
probably benign |
Het |
| Tnfaip3 |
C |
A |
10: 18,887,374 (GRCm39) |
M50I |
probably damaging |
Het |
| Ttc22 |
T |
G |
4: 106,494,003 (GRCm39) |
V321G |
probably benign |
Het |
| Ubr2 |
A |
G |
17: 47,303,911 (GRCm39) |
|
probably benign |
Het |
| Ubr4 |
T |
C |
4: 139,164,369 (GRCm39) |
|
probably benign |
Het |
| Usp24 |
T |
C |
4: 106,269,281 (GRCm39) |
|
probably benign |
Het |
| Vmn2r100 |
A |
T |
17: 19,742,441 (GRCm39) |
I272L |
possibly damaging |
Het |
| Vrtn |
T |
A |
12: 84,695,379 (GRCm39) |
L43H |
probably damaging |
Het |
| Wnk1 |
G |
T |
6: 120,014,110 (GRCm39) |
R162S |
probably damaging |
Het |
| Xkr9 |
G |
A |
1: 13,754,286 (GRCm39) |
W93* |
probably null |
Het |
| Zfp804b |
G |
T |
5: 6,819,655 (GRCm39) |
P1136H |
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 |
|
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'- GAGGGGTAGAGTCACAGcaggg -3'
(R):5'- GAGAGATGGCACCACTGACAAACAA -3'
Sequencing Primer
(F):5'- aaccctctctccgtagacc -3'
(R):5'- GGTGCGTTGTCAACCAGAAAA -3'
|
| Posted On |
2013-05-09 |
Incidental Mutation