Incidental Mutation 'R4110:Topbp1'
| ID |
366524 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Topbp1
|
| Ensembl Gene |
ENSMUSG00000032555 |
| Gene Name |
topoisomerase (DNA) II binding protein 1 |
| Synonyms |
1110031N14Rik, 2810429C13Rik, D430026L04Rik |
| MMRRC Submission |
040988-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R4110 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
103182414-103227627 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 103187158 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Leucine
at position 121
(R121L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000139773
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000035164]
[ENSMUST00000142540]
[ENSMUST00000187065]
|
| AlphaFold |
Q6ZQF0 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000035164
AA Change: R121L
PolyPhen 2
Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000035164
Gene: ENSMUSG00000032555
AA Change: R121L
| 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: R121L
PolyPhen 2
Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000139773
Gene: ENSMUSG00000032555
AA Change: R121L
| 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 |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000189631
|
| Meta Mutation Damage Score |
0.6467 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.3%
- 20x: 95.6%
|
| Validation Efficiency |
100% (61/61) |
| 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 |
|---|
| 1700012B07Rik |
G |
T |
11: 109,684,980 (GRCm39) |
C172* |
probably null |
Het |
| Acot10 |
A |
T |
15: 20,666,612 (GRCm39) |
L43Q |
probably damaging |
Het |
| Alms1 |
G |
A |
6: 85,597,870 (GRCm39) |
V1368I |
probably benign |
Het |
| Als2cl |
T |
C |
9: 110,713,115 (GRCm39) |
S2P |
probably benign |
Het |
| AW209491 |
T |
C |
13: 14,812,158 (GRCm39) |
V337A |
probably damaging |
Het |
| Bace2 |
A |
G |
16: 97,237,856 (GRCm39) |
T436A |
probably benign |
Het |
| BC023105 |
A |
G |
18: 60,575,356 (GRCm39) |
|
noncoding transcript |
Het |
| Blvra |
T |
C |
2: 126,937,075 (GRCm39) |
V176A |
probably damaging |
Het |
| Casp2 |
G |
A |
6: 42,244,828 (GRCm39) |
A76T |
probably damaging |
Het |
| Ccdc88c |
A |
G |
12: 100,911,332 (GRCm39) |
L34P |
probably damaging |
Het |
| Cep250 |
G |
A |
2: 155,834,552 (GRCm39) |
R2159K |
probably damaging |
Het |
| Col6a2 |
T |
A |
10: 76,442,003 (GRCm39) |
|
probably null |
Het |
| Cse1l |
T |
C |
2: 166,783,970 (GRCm39) |
Y488H |
probably benign |
Het |
| Dip2c |
G |
T |
13: 9,687,137 (GRCm39) |
G1254C |
probably damaging |
Het |
| Dnajb12 |
T |
A |
10: 59,730,136 (GRCm39) |
S270R |
possibly damaging |
Het |
| Dnajc28 |
G |
A |
16: 91,413,755 (GRCm39) |
T187M |
probably damaging |
Het |
| Dscaml1 |
G |
A |
9: 45,643,366 (GRCm39) |
A1262T |
probably benign |
Het |
| Dtwd2 |
A |
C |
18: 49,831,373 (GRCm39) |
|
probably benign |
Het |
| Fadd |
C |
A |
7: 144,134,488 (GRCm39) |
K132N |
possibly damaging |
Het |
| Fndc3c1 |
T |
C |
X: 105,487,897 (GRCm39) |
N462S |
probably benign |
Het |
| Fzd3 |
A |
G |
14: 65,472,616 (GRCm39) |
V384A |
probably benign |
Het |
| Gm6370 |
T |
C |
5: 146,430,702 (GRCm39) |
S296P |
probably benign |
Het |
| Gsdmc |
T |
A |
15: 63,651,876 (GRCm39) |
H245L |
probably benign |
Het |
| H13 |
T |
C |
2: 152,523,029 (GRCm39) |
I114T |
probably damaging |
Het |
| Hhipl2 |
A |
G |
1: 183,204,920 (GRCm39) |
R78G |
probably benign |
Het |
| Hrh3 |
C |
A |
2: 179,744,643 (GRCm39) |
R99L |
possibly damaging |
Het |
| Ldc1 |
A |
T |
4: 130,112,967 (GRCm39) |
L143Q |
probably damaging |
Het |
| Man2c1 |
A |
G |
9: 57,044,055 (GRCm39) |
N330S |
probably damaging |
Het |
| Muc19 |
T |
A |
15: 91,781,816 (GRCm39) |
|
noncoding transcript |
Het |
| Myh14 |
T |
G |
7: 44,277,974 (GRCm39) |
M1092L |
probably benign |
Het |
| Neb |
A |
G |
2: 52,038,778 (GRCm39) |
I2899T |
probably benign |
Het |
| Neb |
T |
A |
2: 52,134,137 (GRCm39) |
Q3282L |
probably damaging |
Het |
| Nqo2 |
A |
T |
13: 34,163,620 (GRCm39) |
Q93L |
probably benign |
Het |
| Or13a18 |
C |
A |
7: 140,190,177 (GRCm39) |
L33M |
probably benign |
Het |
| Or13a18 |
T |
A |
7: 140,190,178 (GRCm39) |
L33Q |
possibly damaging |
Het |
| Or4a2 |
C |
A |
2: 89,248,444 (GRCm39) |
L104F |
probably benign |
Het |
| Or51i2 |
T |
C |
7: 103,689,609 (GRCm39) |
V202A |
probably damaging |
Het |
| Pcsk1 |
A |
G |
13: 75,244,488 (GRCm39) |
N122S |
probably damaging |
Het |
| Pdzrn4 |
A |
G |
15: 92,668,745 (GRCm39) |
I966V |
probably benign |
Het |
| Phldb1 |
G |
A |
9: 44,627,128 (GRCm39) |
T439I |
possibly damaging |
Het |
| Pign |
A |
G |
1: 105,481,540 (GRCm39) |
|
probably benign |
Het |
| Pkn1 |
A |
T |
8: 84,417,828 (GRCm39) |
D120E |
probably benign |
Het |
| Ptpru |
A |
G |
4: 131,546,348 (GRCm39) |
Y301H |
probably damaging |
Het |
| Raly |
C |
T |
2: 154,699,378 (GRCm39) |
Q61* |
probably null |
Het |
| Rpl24 |
T |
C |
16: 55,791,723 (GRCm39) |
V148A |
probably benign |
Het |
| S100a16 |
A |
G |
3: 90,449,379 (GRCm39) |
N18S |
probably damaging |
Het |
| Sec31b |
G |
T |
19: 44,512,968 (GRCm39) |
T507N |
possibly damaging |
Het |
| Sgca |
T |
C |
11: 94,863,396 (GRCm39) |
T27A |
possibly damaging |
Het |
| Slc22a12 |
C |
A |
19: 6,590,658 (GRCm39) |
R203L |
probably damaging |
Het |
| Ssbp3 |
C |
A |
4: 106,904,393 (GRCm39) |
|
probably benign |
Het |
| Sucnr1 |
C |
G |
3: 59,994,215 (GRCm39) |
R248G |
probably damaging |
Het |
| Tbr1 |
C |
T |
2: 61,642,076 (GRCm39) |
P184L |
probably benign |
Het |
| Thsd7b |
A |
T |
1: 130,044,356 (GRCm39) |
D1112V |
probably benign |
Het |
| Tnc |
A |
G |
4: 63,933,188 (GRCm39) |
V692A |
probably damaging |
Het |
| Top2a |
C |
A |
11: 98,913,786 (GRCm39) |
K18N |
probably damaging |
Het |
| Unc79 |
T |
C |
12: 103,025,629 (GRCm39) |
C339R |
probably damaging |
Het |
| Wdfy3 |
C |
T |
5: 102,047,924 (GRCm39) |
|
probably null |
Het |
| Zbtb3 |
G |
C |
19: 8,780,384 (GRCm39) |
|
probably benign |
Het |
| Zfp715 |
T |
A |
7: 42,947,304 (GRCm39) |
K885N |
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 |
|
|
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'- GCTGTTAGCTTCTGTGAGTAAC -3'
(R):5'- ACAATCATATTCCACTTTCCCCAGG -3'
Sequencing Primer
(F):5'- CAGGATTGTTGGTCCTCA -3'
(R):5'- CATTATGCAGACTAAGCGGGTTG -3'
|
| Posted On |
2015-12-28 |
Incidental Mutation