Incidental Mutation 'R9103:Top3a'
| ID |
691832 |
| 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 # |
R9103 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
60630884-60668191 bp(-) (GRCm39) |
| Type of Mutation |
critical splice acceptor site |
| DNA Base Change (assembly) |
T to G
at 60654253 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000002891
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000002891]
[ENSMUST00000102668]
[ENSMUST00000117743]
[ENSMUST00000120417]
[ENSMUST00000130068]
|
| AlphaFold |
O70157 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000002891
|
| SMART Domains |
Protein: ENSMUSP00000002891
Gene: ENSMUSG00000002814
| 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 benign
Transcript: ENSMUST00000102668
|
| SMART Domains |
Protein: ENSMUSP00000099729
Gene: ENSMUSG00000002814
| 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 benign
Transcript: ENSMUST00000117743
|
| SMART Domains |
Protein: ENSMUSP00000113057
Gene: ENSMUSG00000002814
| 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 benign
Transcript: ENSMUST00000120417
|
| SMART Domains |
Protein: ENSMUSP00000113653
Gene: ENSMUSG00000002814
| 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 |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000130068
|
| SMART Domains |
Protein: ENSMUSP00000115727
Gene: ENSMUSG00000002814
| Domain | Start | End | E-Value | Type |
|---|
|
PDB:4CGY|A
|
1 |
85 |
2e-48 |
PDB |
|
SCOP:d1gkub3
|
5 |
85 |
7e-12 |
SMART |
|
Blast:TOPRIM
|
10 |
85 |
7e-50 |
BLAST |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.3%
|
| Validation Efficiency |
100% (73/73) |
| 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: 73 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam6b |
T |
A |
12: 113,454,558 (GRCm39) |
C458* |
probably null |
Het |
| Adgra2 |
G |
A |
8: 27,603,436 (GRCm39) |
G407D |
probably damaging |
Het |
| Aox4 |
G |
A |
1: 58,296,441 (GRCm39) |
G1046E |
probably damaging |
Het |
| Arhgap27 |
A |
G |
11: 103,251,540 (GRCm39) |
Y63H |
probably damaging |
Het |
| Ascl3 |
A |
T |
7: 109,327,127 (GRCm39) |
M64K |
probably benign |
Het |
| Cacna2d3 |
G |
A |
14: 29,068,971 (GRCm39) |
T252I |
probably damaging |
Het |
| Capn7 |
A |
G |
14: 31,091,732 (GRCm39) |
T710A |
probably benign |
Het |
| Carmil1 |
A |
G |
13: 24,295,836 (GRCm39) |
C393R |
probably benign |
Het |
| Chd5 |
A |
C |
4: 152,461,444 (GRCm39) |
E1215A |
possibly damaging |
Het |
| Cntnap1 |
A |
G |
11: 101,072,094 (GRCm39) |
N449S |
probably benign |
Het |
| Cpz |
G |
A |
5: 35,675,054 (GRCm39) |
S65L |
probably benign |
Het |
| Cyp2c68 |
T |
A |
19: 39,727,625 (GRCm39) |
N118I |
possibly damaging |
Het |
| Ddx25 |
A |
T |
9: 35,458,085 (GRCm39) |
F345I |
probably benign |
Het |
| Dennd2d |
T |
C |
3: 106,397,684 (GRCm39) |
Y161H |
|
Het |
| Egfl8 |
C |
T |
17: 34,833,210 (GRCm39) |
D179N |
probably benign |
Het |
| Eif2a |
A |
G |
3: 58,452,461 (GRCm39) |
N174S |
|
Het |
| Farp1 |
C |
T |
14: 121,509,104 (GRCm39) |
H643Y |
possibly damaging |
Het |
| Fat1 |
G |
T |
8: 45,404,850 (GRCm39) |
V534L |
probably benign |
Het |
| Fbxo48 |
A |
G |
11: 16,903,556 (GRCm39) |
T61A |
probably benign |
Het |
| Fnbp4 |
A |
G |
2: 90,608,187 (GRCm39) |
T970A |
probably benign |
Het |
| Foxd1 |
T |
A |
13: 98,491,763 (GRCm39) |
D212E |
possibly damaging |
Het |
| Fstl4 |
C |
A |
11: 52,664,696 (GRCm39) |
H9N |
probably benign |
Het |
| Fyb1 |
A |
G |
15: 6,673,232 (GRCm39) |
D622G |
possibly damaging |
Het |
| Gm4787 |
T |
A |
12: 81,425,489 (GRCm39) |
H223L |
probably benign |
Het |
| Grin3a |
A |
G |
4: 49,771,179 (GRCm39) |
V531A |
probably damaging |
Het |
| Gzmb |
T |
C |
14: 56,498,622 (GRCm39) |
D42G |
probably benign |
Het |
| Herc2 |
T |
A |
7: 55,784,803 (GRCm39) |
Y1416N |
possibly damaging |
Het |
| Hps4 |
G |
A |
5: 112,525,905 (GRCm39) |
S642N |
possibly damaging |
Het |
| Hsd17b6 |
A |
G |
10: 127,833,876 (GRCm39) |
W2R |
probably damaging |
Het |
| Hspa4l |
T |
C |
3: 40,715,349 (GRCm39) |
|
probably null |
Het |
| Igtp |
A |
G |
11: 58,097,726 (GRCm39) |
E299G |
|
Het |
| Klhl28 |
T |
C |
12: 64,990,300 (GRCm39) |
D547G |
possibly damaging |
Het |
| Leng8 |
G |
C |
7: 4,146,897 (GRCm39) |
R473P |
probably damaging |
Het |
| Lin37 |
T |
A |
7: 30,257,055 (GRCm39) |
N53Y |
possibly damaging |
Het |
| Lrp1 |
G |
A |
10: 127,430,979 (GRCm39) |
Q357* |
probably null |
Het |
| Lrrfip2 |
A |
T |
9: 111,034,840 (GRCm39) |
K176N |
probably damaging |
Het |
| Ltbp4 |
A |
G |
7: 27,028,186 (GRCm39) |
S390P |
unknown |
Het |
| Map3k2 |
G |
A |
18: 32,353,625 (GRCm39) |
R465H |
possibly damaging |
Het |
| Mthfd1 |
T |
A |
12: 76,350,517 (GRCm39) |
V665E |
probably damaging |
Het |
| Myh3 |
A |
T |
11: 66,989,451 (GRCm39) |
I1524F |
probably benign |
Het |
| Myo1g |
A |
G |
11: 6,466,153 (GRCm39) |
S339P |
possibly damaging |
Het |
| Nf1 |
A |
G |
11: 79,450,332 (GRCm39) |
K506R |
probably damaging |
Het |
| Nudt21 |
A |
G |
8: 94,746,321 (GRCm39) |
I225T |
probably benign |
Het |
| Or4c31 |
A |
G |
2: 88,291,942 (GRCm39) |
K105R |
probably benign |
Het |
| Or56b1b |
A |
T |
7: 108,164,780 (GRCm39) |
L74Q |
probably benign |
Het |
| Or5g9 |
T |
A |
2: 85,552,527 (GRCm39) |
Y259* |
probably null |
Het |
| Or8b3 |
A |
G |
9: 38,314,518 (GRCm39) |
Y116C |
probably damaging |
Het |
| Or8c18 |
A |
T |
9: 38,203,969 (GRCm39) |
I243F |
probably damaging |
Het |
| Pax2 |
C |
T |
19: 44,806,968 (GRCm39) |
T299I |
probably benign |
Het |
| Pde4dip |
C |
T |
3: 97,749,044 (GRCm39) |
S99N |
probably damaging |
Het |
| Pdlim5 |
T |
A |
3: 142,010,174 (GRCm39) |
H147L |
possibly damaging |
Het |
| Pfkfb3 |
T |
A |
2: 11,487,381 (GRCm39) |
Y343F |
probably damaging |
Het |
| Phf10 |
A |
G |
17: 15,174,382 (GRCm39) |
I232T |
probably damaging |
Het |
| Plcb3 |
C |
T |
19: 6,936,288 (GRCm39) |
G745D |
probably benign |
Het |
| Pramel11 |
G |
A |
4: 143,624,381 (GRCm39) |
L39F |
probably damaging |
Het |
| Recql |
C |
A |
6: 142,322,515 (GRCm39) |
C129F |
possibly damaging |
Het |
| Rrp1 |
C |
T |
10: 78,240,876 (GRCm39) |
D288N |
unknown |
Het |
| Samd4 |
T |
C |
14: 47,254,066 (GRCm39) |
Y177H |
probably benign |
Het |
| Sim1 |
T |
A |
10: 50,785,525 (GRCm39) |
M198K |
possibly damaging |
Het |
| Six4 |
T |
C |
12: 73,155,964 (GRCm39) |
I334M |
probably damaging |
Het |
| Slc27a6 |
T |
C |
18: 58,705,268 (GRCm39) |
S217P |
probably damaging |
Het |
| Slc2a4 |
T |
A |
11: 69,836,218 (GRCm39) |
K264N |
probably benign |
Het |
| Slc8b1 |
A |
T |
5: 120,670,939 (GRCm39) |
I476F |
probably benign |
Het |
| Smcp |
T |
C |
3: 92,491,838 (GRCm39) |
D3G |
unknown |
Het |
| Tagap |
A |
T |
17: 8,152,335 (GRCm39) |
M507L |
probably benign |
Het |
| Thap11 |
A |
G |
8: 106,582,780 (GRCm39) |
E263G |
probably damaging |
Het |
| Tmco1 |
C |
T |
1: 167,136,132 (GRCm39) |
|
probably benign |
Het |
| Ube2q2l |
T |
A |
6: 136,378,011 (GRCm39) |
D273V |
probably benign |
Het |
| Vmn1r31 |
A |
G |
6: 58,449,073 (GRCm39) |
V264A |
unknown |
Het |
| Vti1a |
A |
C |
19: 55,316,865 (GRCm39) |
M81L |
probably benign |
Het |
| Wscd1 |
T |
C |
11: 71,674,245 (GRCm39) |
|
probably null |
Het |
| Zfp595 |
T |
C |
13: 67,464,676 (GRCm39) |
E532G |
probably damaging |
Het |
| Zranb1 |
T |
A |
7: 132,584,167 (GRCm39) |
V539D |
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 |
|
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 |
|
R9578:Top3a
|
UTSW |
11 |
60,647,517 (GRCm39) |
missense |
probably damaging |
0.99 |
|
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'- GGGTTAAAGGTCAGAGGATCCA -3'
(R):5'- GCCAACACTACTCTTAGCATCTTG -3'
Sequencing Primer
(F):5'- GTCTTGGCTTCTATAAGAAAGCAGGC -3'
(R):5'- GAATGCTAGAGTGTCAAGTTGCATC -3'
|
| Posted On |
2021-12-30 |
Incidental Mutation