Incidental Mutation 'R7741:Topbp1'
ID |
596554 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Topbp1
|
Ensembl Gene |
ENSMUSG00000032555 |
Gene Name |
topoisomerase (DNA) II binding protein 1 |
Synonyms |
1110031N14Rik, 2810429C13Rik, D430026L04Rik |
MMRRC Submission |
045797-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R7741 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
9 |
Chromosomal Location |
103182414-103227627 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 103197756 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Isoleucine
at position 445
(N445I)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000035164
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000035164]
|
AlphaFold |
Q6ZQF0 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000035164
AA Change: N445I
PolyPhen 2
Score 0.970 (Sensitivity: 0.77; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000035164 Gene: ENSMUSG00000032555 AA Change: N445I
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 |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
Validation Efficiency |
100% (53/53) |
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: 53 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2610028H24Rik |
C |
T |
10: 76,290,551 (GRCm39) |
P118S |
probably damaging |
Het |
Adgrl1 |
T |
A |
8: 84,656,343 (GRCm39) |
D215E |
probably damaging |
Het |
Afap1l2 |
T |
C |
19: 56,902,914 (GRCm39) |
D755G |
probably damaging |
Het |
Akr1c18 |
T |
A |
13: 4,194,332 (GRCm39) |
D109V |
possibly damaging |
Het |
Brdt |
G |
A |
5: 107,506,752 (GRCm39) |
R445H |
probably benign |
Het |
Capn2 |
C |
A |
1: 182,307,288 (GRCm39) |
E517* |
probably null |
Het |
Celsr1 |
A |
T |
15: 85,863,303 (GRCm39) |
V1243E |
possibly damaging |
Het |
Cenpe |
C |
G |
3: 134,953,096 (GRCm39) |
|
probably null |
Het |
Cep135 |
A |
G |
5: 76,778,817 (GRCm39) |
E748G |
probably damaging |
Het |
Cfap119 |
C |
A |
7: 127,187,159 (GRCm39) |
V35L |
probably benign |
Het |
Cfap57 |
C |
T |
4: 118,472,128 (GRCm39) |
V84I |
probably benign |
Het |
Col6a1 |
C |
A |
10: 76,545,743 (GRCm39) |
A910S |
unknown |
Het |
Cyp4a14 |
T |
A |
4: 115,347,156 (GRCm39) |
|
probably null |
Het |
Dot1l |
C |
T |
10: 80,619,378 (GRCm39) |
R412W |
probably damaging |
Het |
Dyrk2 |
T |
C |
10: 118,695,594 (GRCm39) |
T555A |
probably benign |
Het |
Foxn3 |
T |
C |
12: 99,162,587 (GRCm39) |
N438S |
probably damaging |
Het |
Gdpd5 |
T |
C |
7: 99,103,001 (GRCm39) |
F320S |
probably damaging |
Het |
Grn |
A |
G |
11: 102,326,560 (GRCm39) |
H413R |
probably damaging |
Het |
Gstm7 |
A |
T |
3: 107,838,963 (GRCm39) |
M3K |
possibly damaging |
Het |
Il17rd |
A |
G |
14: 26,822,293 (GRCm39) |
E673G |
probably damaging |
Het |
Klhl29 |
T |
C |
12: 5,187,500 (GRCm39) |
D288G |
possibly damaging |
Het |
Klk1b11 |
G |
A |
7: 43,426,421 (GRCm39) |
A79T |
probably benign |
Het |
Kmt2a |
A |
G |
9: 44,719,359 (GRCm39) |
V3914A |
unknown |
Het |
Map2k2 |
T |
C |
10: 80,956,877 (GRCm39) |
V307A |
probably benign |
Het |
Mst1r |
G |
T |
9: 107,784,319 (GRCm39) |
|
probably benign |
Het |
Nr3c2 |
A |
G |
8: 77,937,275 (GRCm39) |
E834G |
probably damaging |
Het |
Oga |
A |
T |
19: 45,764,501 (GRCm39) |
L213H |
probably damaging |
Het |
Ogfod3 |
T |
G |
11: 121,074,362 (GRCm39) |
|
probably null |
Het |
Or5b102 |
A |
T |
19: 13,041,423 (GRCm39) |
Y216F |
probably damaging |
Het |
Or8d2 |
T |
C |
9: 38,759,614 (GRCm39) |
L68P |
probably damaging |
Het |
Plscr4 |
A |
T |
9: 92,364,693 (GRCm39) |
|
probably null |
Het |
Pou2f1 |
A |
G |
1: 165,703,444 (GRCm39) |
S749P |
probably damaging |
Het |
Ppp4r3b |
T |
G |
11: 29,155,701 (GRCm39) |
L556V |
possibly damaging |
Het |
Psd4 |
T |
G |
2: 24,291,108 (GRCm39) |
|
probably null |
Het |
Rbbp4 |
T |
C |
4: 129,228,356 (GRCm39) |
D33G |
probably damaging |
Het |
Rif1 |
T |
A |
2: 51,975,153 (GRCm39) |
M354K |
probably damaging |
Het |
Rmi1 |
A |
G |
13: 58,557,067 (GRCm39) |
K439E |
probably benign |
Het |
Scgb2b7 |
A |
G |
7: 31,404,454 (GRCm39) |
|
probably null |
Het |
Sdc1 |
A |
G |
12: 8,841,370 (GRCm39) |
D237G |
probably benign |
Het |
Sel1l3 |
T |
C |
5: 53,357,593 (GRCm39) |
Y133C |
probably damaging |
Het |
Snx31 |
A |
G |
15: 36,523,587 (GRCm39) |
|
probably null |
Het |
Snx7 |
A |
G |
3: 117,632,488 (GRCm39) |
F201S |
probably damaging |
Het |
Tas2r131 |
C |
T |
6: 132,934,438 (GRCm39) |
V124I |
possibly damaging |
Het |
Tbx20 |
A |
T |
9: 24,651,581 (GRCm39) |
|
probably null |
Het |
Tpx2 |
T |
A |
2: 152,709,263 (GRCm39) |
I31K |
possibly damaging |
Het |
Trpv3 |
T |
A |
11: 73,179,088 (GRCm39) |
V499E |
probably damaging |
Het |
Tshr |
G |
A |
12: 91,500,743 (GRCm39) |
W258* |
probably null |
Het |
Usp32 |
G |
T |
11: 84,878,107 (GRCm39) |
D1543E |
probably damaging |
Het |
Usp39 |
A |
G |
6: 72,315,521 (GRCm39) |
|
probably benign |
Het |
Vac14 |
T |
C |
8: 111,361,020 (GRCm39) |
S197P |
probably damaging |
Het |
Vars2 |
A |
G |
17: 35,971,835 (GRCm39) |
S497P |
probably damaging |
Het |
Zfp462 |
C |
A |
4: 55,008,637 (GRCm39) |
P201Q |
probably benign |
Het |
Zkscan5 |
A |
G |
5: 145,157,847 (GRCm39) |
Q783R |
possibly 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 |
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 |
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'- AGCACTTGGTACAGGGATGG -3'
(R):5'- GGCCTTGCCTGGTTACAAAG -3'
Sequencing Primer
(F):5'- CACTTGGTACAGGGATGGTTTGG -3'
(R):5'- GGCAGCTATCATGCATTATCTATTGC -3'
|
Posted On |
2019-11-26 |