Incidental Mutation 'R9578:Top3a'
| ID |
722423 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Top3a
|
| Ensembl Gene |
ENSMUSG00000002814 |
| Gene Name |
topoisomerase (DNA) III alpha |
| Synonyms |
Top IIIa |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R9578 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
60630884-60668191 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 60647517 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Glycine
at position 186
(V186G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000002891
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000002891]
[ENSMUST00000102668]
[ENSMUST00000117743]
[ENSMUST00000120417]
|
| AlphaFold |
O70157 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000002891
AA Change: V186G
PolyPhen 2
Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000002891
Gene: ENSMUSG00000002814
AA Change: V186G
| Domain | Start | End | E-Value | Type |
|---|
|
TOPRIM
|
35 |
169 |
5.04e-24 |
SMART |
|
TOP1Bc
|
172 |
269 |
4.99e-37 |
SMART |
|
TOP1Ac
|
315 |
569 |
1.47e-107 |
SMART |
|
Pfam:zf-C4_Topoisom
|
655 |
694 |
1.7e-15 |
PFAM |
|
Pfam:zf-GRF
|
813 |
854 |
9.7e-23 |
PFAM |
|
low complexity region
|
884 |
896 |
N/A |
INTRINSIC |
|
Pfam:zf-GRF
|
897 |
941 |
7.9e-24 |
PFAM |
|
ZnF_C2HC
|
985 |
1001 |
7.06e-2 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000102668
AA Change: V186G
PolyPhen 2
Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000099729
Gene: ENSMUSG00000002814
AA Change: V186G
| Domain | Start | End | E-Value | Type |
|---|
|
TOPRIM
|
35 |
169 |
5.04e-24 |
SMART |
|
TOP1Bc
|
172 |
269 |
4.99e-37 |
SMART |
|
TOP1Ac
|
315 |
569 |
1.47e-107 |
SMART |
|
Pfam:zf-C4_Topoisom
|
655 |
694 |
5.9e-16 |
PFAM |
|
Pfam:zf-GRF
|
813 |
854 |
2.6e-21 |
PFAM |
|
low complexity region
|
884 |
896 |
N/A |
INTRINSIC |
|
Pfam:zf-GRF
|
897 |
941 |
4.2e-22 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000117743
AA Change: V161G
PolyPhen 2
Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000113057
Gene: ENSMUSG00000002814
AA Change: V161G
| Domain | Start | End | E-Value | Type |
|---|
|
TOPRIM
|
10 |
144 |
5.04e-24 |
SMART |
|
TOP1Bc
|
147 |
244 |
4.99e-37 |
SMART |
|
TOP1Ac
|
290 |
544 |
1.47e-107 |
SMART |
|
Pfam:zf-C4_Topoisom
|
630 |
669 |
4.6e-16 |
PFAM |
|
ZnF_C2HC
|
755 |
771 |
7.06e-2 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000120417
AA Change: V161G
PolyPhen 2
Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000113653
Gene: ENSMUSG00000002814
AA Change: V161G
| Domain | Start | End | E-Value | Type |
|---|
|
TOPRIM
|
10 |
144 |
5.04e-24 |
SMART |
|
TOP1Bc
|
147 |
244 |
4.99e-37 |
SMART |
|
TOP1Ac
|
290 |
544 |
1.47e-107 |
SMART |
|
Pfam:zf-C4_Topoisom
|
630 |
666 |
1.9e-13 |
PFAM |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a DNA topoisomerase, an enzyme that controls and alters the topologic states of DNA during transcription. This enzyme catalyzes the transient breaking and rejoining of a single strand of DNA which allows the strands to pass through one another, thus reducing the number of supercoils and altering the topology of DNA. This enzyme forms a complex with BLM which functions in the regulation of recombination in somatic cells. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Mar 2016]
PHENOTYPE: Mice homozygous for a null allele die shortly after implantation and the induction of decidual reaction. [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 |
|---|
| 4933405L10Rik |
G |
A |
8: 106,436,505 (GRCm39) |
G234S |
probably damaging |
Het |
| Aipl1 |
C |
T |
11: 71,928,253 (GRCm39) |
G11D |
probably damaging |
Het |
| Aldh8a1 |
A |
G |
10: 21,253,281 (GRCm39) |
I14M |
probably damaging |
Het |
| Arhgap11a |
A |
G |
2: 113,670,125 (GRCm39) |
S333P |
possibly damaging |
Het |
| Atp1b3 |
A |
T |
9: 96,220,754 (GRCm39) |
D180E |
probably benign |
Het |
| B3gnt8 |
T |
C |
7: 25,328,089 (GRCm39) |
L173P |
probably damaging |
Het |
| Cabin1 |
A |
G |
10: 75,590,185 (GRCm39) |
F37S |
probably damaging |
Het |
| Carmil3 |
G |
T |
14: 55,741,293 (GRCm39) |
|
probably null |
Het |
| Cfi |
G |
T |
3: 129,659,024 (GRCm39) |
M327I |
probably benign |
Het |
| Cltc |
G |
A |
11: 86,593,237 (GRCm39) |
S1542F |
probably benign |
Het |
| Col7a1 |
G |
A |
9: 108,789,350 (GRCm39) |
G854D |
unknown |
Het |
| Cux1 |
A |
T |
5: 136,282,919 (GRCm39) |
|
probably null |
Het |
| Dcdc2c |
G |
T |
12: 28,602,234 (GRCm39) |
N23K |
probably damaging |
Het |
| Dclre1a |
A |
G |
19: 56,528,734 (GRCm39) |
I807T |
probably damaging |
Het |
| Dnah14 |
T |
C |
1: 181,502,007 (GRCm39) |
F1770L |
probably benign |
Het |
| Dnajc13 |
A |
G |
9: 104,115,726 (GRCm39) |
F28L |
probably benign |
Het |
| Dtna |
A |
G |
18: 23,728,612 (GRCm39) |
D269G |
probably damaging |
Het |
| Dusp4 |
G |
T |
8: 35,274,822 (GRCm39) |
|
probably benign |
Het |
| Ece1 |
T |
C |
4: 137,641,133 (GRCm39) |
S19P |
probably benign |
Het |
| Gas1 |
T |
C |
13: 60,323,905 (GRCm39) |
D243G |
possibly damaging |
Het |
| Ggnbp2 |
A |
G |
11: 84,744,989 (GRCm39) |
C178R |
probably benign |
Het |
| Gm12185 |
T |
A |
11: 48,806,408 (GRCm39) |
N261I |
probably benign |
Het |
| Grm4 |
A |
T |
17: 27,669,183 (GRCm39) |
F362I |
possibly damaging |
Het |
| Icos |
T |
A |
1: 61,032,871 (GRCm39) |
N23K |
probably benign |
Het |
| Kcnk2 |
CAAA |
CAA |
1: 188,988,891 (GRCm39) |
|
probably null |
Het |
| Krt5 |
T |
C |
15: 101,620,153 (GRCm39) |
K188R |
probably damaging |
Het |
| Mindy3 |
C |
T |
2: 12,361,715 (GRCm39) |
|
probably null |
Het |
| Ncdn |
C |
T |
4: 126,645,795 (GRCm39) |
R38H |
probably damaging |
Het |
| Nol9 |
A |
G |
4: 152,125,706 (GRCm39) |
K219R |
probably benign |
Het |
| Opalin |
A |
T |
19: 41,060,668 (GRCm39) |
S2R |
probably damaging |
Het |
| Or8g35 |
A |
T |
9: 39,381,201 (GRCm39) |
S274T |
probably damaging |
Het |
| Pask |
G |
A |
1: 93,263,390 (GRCm39) |
S122L |
probably benign |
Het |
| Pcdha11 |
T |
C |
18: 37,140,176 (GRCm39) |
S602P |
probably damaging |
Het |
| Pclo |
A |
G |
5: 14,816,753 (GRCm39) |
K1271R |
|
Het |
| Piezo1 |
T |
C |
8: 123,224,214 (GRCm39) |
H763R |
|
Het |
| Pigr |
A |
G |
1: 130,777,350 (GRCm39) |
K719E |
probably benign |
Het |
| Piwil4 |
A |
T |
9: 14,638,790 (GRCm39) |
V245E |
probably damaging |
Het |
| Plcb4 |
A |
G |
2: 135,829,444 (GRCm39) |
M925V |
probably benign |
Het |
| Pomt1 |
G |
A |
2: 32,133,543 (GRCm39) |
|
probably null |
Het |
| Pou2f2 |
C |
A |
7: 24,796,569 (GRCm39) |
A302S |
probably benign |
Het |
| Rapgef4 |
A |
T |
2: 72,026,052 (GRCm39) |
H359L |
probably damaging |
Het |
| Rfesd |
C |
T |
13: 76,156,299 (GRCm39) |
V36I |
possibly damaging |
Het |
| Rims1 |
G |
A |
1: 22,523,823 (GRCm39) |
T421M |
probably damaging |
Het |
| Serpinf2 |
T |
A |
11: 75,327,615 (GRCm39) |
H150L |
probably benign |
Het |
| Syt10 |
A |
T |
15: 89,675,122 (GRCm39) |
M408K |
possibly damaging |
Het |
| Tcea1 |
T |
A |
1: 4,961,021 (GRCm39) |
|
probably null |
Het |
| Tia1 |
T |
C |
6: 86,407,347 (GRCm39) |
*387R |
probably null |
Het |
| Upk3b |
T |
A |
5: 136,067,736 (GRCm39) |
S27R |
unknown |
Het |
| Usp18 |
A |
G |
6: 121,239,726 (GRCm39) |
S274G |
probably benign |
Het |
| Vmn1r230 |
C |
A |
17: 21,067,163 (GRCm39) |
C117* |
probably null |
Het |
| Vmn1r72 |
T |
C |
7: 11,404,347 (GRCm39) |
I34V |
probably benign |
Het |
| Vmn2r74 |
T |
C |
7: 85,606,101 (GRCm39) |
D415G |
probably benign |
Het |
| Zfp54 |
A |
G |
17: 21,655,186 (GRCm39) |
Y560C |
probably damaging |
Het |
|
| Other mutations in Top3a |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01712:Top3a
|
APN |
11 |
60,652,562 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02935:Top3a
|
APN |
11 |
60,653,354 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R0057:Top3a
|
UTSW |
11 |
60,631,510 (GRCm39) |
missense |
probably benign |
|
|
R0057:Top3a
|
UTSW |
11 |
60,631,510 (GRCm39) |
missense |
probably benign |
|
|
R0369:Top3a
|
UTSW |
11 |
60,633,615 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1171:Top3a
|
UTSW |
11 |
60,641,419 (GRCm39) |
missense |
probably benign |
0.02 |
|
R1459:Top3a
|
UTSW |
11 |
60,650,188 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1621:Top3a
|
UTSW |
11 |
60,641,433 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1812:Top3a
|
UTSW |
11 |
60,650,188 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1839:Top3a
|
UTSW |
11 |
60,644,714 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1873:Top3a
|
UTSW |
11 |
60,638,810 (GRCm39) |
nonsense |
probably null |
|
|
R2004:Top3a
|
UTSW |
11 |
60,633,315 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2277:Top3a
|
UTSW |
11 |
60,636,700 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R2406:Top3a
|
UTSW |
11 |
60,646,838 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2418:Top3a
|
UTSW |
11 |
60,638,842 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R3196:Top3a
|
UTSW |
11 |
60,650,182 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3879:Top3a
|
UTSW |
11 |
60,634,765 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R4695:Top3a
|
UTSW |
11 |
60,633,238 (GRCm39) |
missense |
probably benign |
0.40 |
|
R4715:Top3a
|
UTSW |
11 |
60,633,823 (GRCm39) |
nonsense |
probably null |
|
|
R4768:Top3a
|
UTSW |
11 |
60,653,316 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4910:Top3a
|
UTSW |
11 |
60,643,204 (GRCm39) |
splice site |
probably benign |
|
|
R5305:Top3a
|
UTSW |
11 |
60,653,365 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
R5387:Top3a
|
UTSW |
11 |
60,653,316 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5419:Top3a
|
UTSW |
11 |
60,653,348 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5806:Top3a
|
UTSW |
11 |
60,667,746 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6162:Top3a
|
UTSW |
11 |
60,636,763 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6279:Top3a
|
UTSW |
11 |
60,640,234 (GRCm39) |
missense |
probably benign |
0.02 |
|
R6300:Top3a
|
UTSW |
11 |
60,640,234 (GRCm39) |
missense |
probably benign |
0.02 |
|
R6381:Top3a
|
UTSW |
11 |
60,634,849 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6383:Top3a
|
UTSW |
11 |
60,640,285 (GRCm39) |
missense |
probably benign |
0.30 |
|
R6767:Top3a
|
UTSW |
11 |
60,641,579 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R6919:Top3a
|
UTSW |
11 |
60,640,319 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7299:Top3a
|
UTSW |
11 |
60,638,974 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7301:Top3a
|
UTSW |
11 |
60,638,974 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7442:Top3a
|
UTSW |
11 |
60,644,744 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R7690:Top3a
|
UTSW |
11 |
60,647,206 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7786:Top3a
|
UTSW |
11 |
60,667,792 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7792:Top3a
|
UTSW |
11 |
60,633,790 (GRCm39) |
missense |
probably benign |
|
|
R8790:Top3a
|
UTSW |
11 |
60,631,363 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R8818:Top3a
|
UTSW |
11 |
60,633,877 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8867:Top3a
|
UTSW |
11 |
60,633,481 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8914:Top3a
|
UTSW |
11 |
60,631,405 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9031:Top3a
|
UTSW |
11 |
60,636,695 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9102:Top3a
|
UTSW |
11 |
60,647,155 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9103:Top3a
|
UTSW |
11 |
60,654,253 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R9130:Top3a
|
UTSW |
11 |
60,641,401 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9548:Top3a
|
UTSW |
11 |
60,644,768 (GRCm39) |
missense |
probably benign |
0.19 |
|
R9732:Top3a
|
UTSW |
11 |
60,640,391 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9774:Top3a
|
UTSW |
11 |
60,638,998 (GRCm39) |
missense |
probably damaging |
0.98 |
|
X0063:Top3a
|
UTSW |
11 |
60,641,470 (GRCm39) |
nonsense |
probably null |
|
|
X0065:Top3a
|
UTSW |
11 |
60,654,224 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1176:Top3a
|
UTSW |
11 |
60,633,463 (GRCm39) |
missense |
probably benign |
0.32 |
|
Z1177:Top3a
|
UTSW |
11 |
60,633,642 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
Z1186:Top3a
|
UTSW |
11 |
60,641,410 (GRCm39) |
missense |
probably benign |
|
|
Z1187:Top3a
|
UTSW |
11 |
60,641,410 (GRCm39) |
missense |
probably benign |
|
|
Z1188:Top3a
|
UTSW |
11 |
60,641,410 (GRCm39) |
missense |
probably benign |
|
|
Z1189:Top3a
|
UTSW |
11 |
60,641,410 (GRCm39) |
missense |
probably benign |
|
|
Z1190:Top3a
|
UTSW |
11 |
60,641,410 (GRCm39) |
missense |
probably benign |
|
|
Z1191:Top3a
|
UTSW |
11 |
60,641,410 (GRCm39) |
missense |
probably benign |
|
|
Z1192:Top3a
|
UTSW |
11 |
60,641,410 (GRCm39) |
missense |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TCAGGGAAGATCCTCTGGAG -3'
(R):5'- GGTGAAAGGCAAACCAGCTTC -3'
Sequencing Primer
(F):5'- CTTGTGAAGGCAGCTCCTG -3'
(R):5'- GCAAACCAGCTTCTTGGACTG -3'
|
| Posted On |
2022-08-09 |
Incidental Mutation