Incidental Mutation 'R6383:Top3a'
| ID |
515454 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Top3a
|
| Ensembl Gene |
ENSMUSG00000002814 |
| Gene Name |
topoisomerase (DNA) III alpha |
| Synonyms |
Top IIIa |
| MMRRC Submission |
044532-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R6383 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
60630884-60668191 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 60640285 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Asparagine
at position 446
(I446N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000113653
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000002891]
[ENSMUST00000102668]
[ENSMUST00000117743]
[ENSMUST00000120417]
|
| AlphaFold |
O70157 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000002891
AA Change: I471N
PolyPhen 2
Score 0.209 (Sensitivity: 0.92; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000002891
Gene: ENSMUSG00000002814
AA Change: I471N
| 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
AA Change: I471N
PolyPhen 2
Score 0.209 (Sensitivity: 0.92; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000099729
Gene: ENSMUSG00000002814
AA Change: I471N
| 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
AA Change: I446N
PolyPhen 2
Score 0.209 (Sensitivity: 0.92; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000113057
Gene: ENSMUSG00000002814
AA Change: I446N
| 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
AA Change: I446N
PolyPhen 2
Score 0.300 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000113653
Gene: ENSMUSG00000002814
AA Change: I446N
| 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 |
noncoding transcript
Transcript: ENSMUST00000124799
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.4%
- 20x: 97.9%
|
| Validation Efficiency |
97% (73/75) |
| 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: 76 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca12 |
A |
T |
1: 71,286,343 (GRCm39) |
M2497K |
probably benign |
Het |
| Abtb2 |
C |
T |
2: 103,397,721 (GRCm39) |
T217I |
probably damaging |
Het |
| Adam29 |
T |
A |
8: 56,324,543 (GRCm39) |
N637I |
probably damaging |
Het |
| Adgb |
T |
A |
10: 10,325,772 (GRCm39) |
E59V |
probably damaging |
Het |
| Adh7 |
C |
T |
3: 137,933,778 (GRCm39) |
R312C |
probably benign |
Het |
| Adprh |
A |
G |
16: 38,267,814 (GRCm39) |
I157T |
probably damaging |
Het |
| Ap2b1 |
T |
C |
11: 83,237,651 (GRCm39) |
S572P |
probably damaging |
Het |
| Asic1 |
T |
C |
15: 99,596,761 (GRCm39) |
L519P |
probably damaging |
Het |
| Atp2a2 |
G |
C |
5: 122,639,712 (GRCm39) |
L13V |
probably benign |
Het |
| Bst2 |
A |
T |
8: 71,989,932 (GRCm39) |
I47N |
possibly damaging |
Het |
| Cacng6 |
G |
A |
7: 3,473,509 (GRCm39) |
|
probably null |
Het |
| Cenpe |
A |
G |
3: 134,957,289 (GRCm39) |
E1849G |
probably damaging |
Het |
| Cep295 |
T |
A |
9: 15,244,050 (GRCm39) |
T213S |
probably damaging |
Het |
| Chia1 |
A |
G |
3: 106,039,127 (GRCm39) |
T406A |
probably benign |
Het |
| Chmp4c |
G |
T |
3: 10,432,277 (GRCm39) |
K62N |
probably damaging |
Het |
| Cldn15 |
A |
G |
5: 136,996,979 (GRCm39) |
T7A |
probably benign |
Het |
| Cmpk2 |
T |
A |
12: 26,528,019 (GRCm39) |
M412K |
probably benign |
Het |
| Cnnm1 |
T |
C |
19: 43,453,705 (GRCm39) |
|
probably null |
Het |
| Cubn |
A |
C |
2: 13,432,646 (GRCm39) |
|
probably null |
Het |
| Dop1b |
T |
C |
16: 93,579,136 (GRCm39) |
V1668A |
possibly damaging |
Het |
| Erg28 |
T |
A |
12: 85,863,203 (GRCm39) |
Y77F |
probably damaging |
Het |
| F830045P16Rik |
C |
T |
2: 129,378,358 (GRCm39) |
A9T |
probably benign |
Het |
| Gli3 |
A |
G |
13: 15,898,140 (GRCm39) |
D740G |
probably damaging |
Het |
| Gpat2 |
G |
C |
2: 127,273,838 (GRCm39) |
G294R |
possibly damaging |
Het |
| Gpat3 |
A |
T |
5: 101,041,010 (GRCm39) |
M357L |
probably benign |
Het |
| Gpr179 |
A |
G |
11: 97,227,973 (GRCm39) |
V1394A |
possibly damaging |
Het |
| Grn |
T |
A |
11: 102,327,621 (GRCm39) |
|
probably benign |
Het |
| H2-Q6 |
G |
A |
17: 35,647,359 (GRCm39) |
|
probably null |
Het |
| Igsf3 |
A |
G |
3: 101,342,964 (GRCm39) |
T514A |
probably benign |
Het |
| Il1r1 |
A |
G |
1: 40,352,495 (GRCm39) |
D558G |
possibly damaging |
Het |
| Irx4 |
T |
C |
13: 73,415,832 (GRCm39) |
M207T |
possibly damaging |
Het |
| Kap |
T |
C |
6: 133,828,920 (GRCm39) |
I54V |
probably benign |
Het |
| Kdm2b |
G |
A |
5: 123,072,841 (GRCm39) |
R340C |
probably damaging |
Het |
| Lipo3 |
T |
A |
19: 33,533,831 (GRCm39) |
M334L |
probably benign |
Het |
| Lmbrd1 |
C |
T |
1: 24,745,115 (GRCm39) |
L152F |
probably damaging |
Het |
| Ltbp1 |
G |
A |
17: 75,666,452 (GRCm39) |
V1382I |
probably damaging |
Het |
| Map3k4 |
C |
T |
17: 12,468,470 (GRCm39) |
D1008N |
possibly damaging |
Het |
| Mcf2l |
T |
C |
8: 12,929,912 (GRCm39) |
|
probably benign |
Het |
| Mecom |
T |
G |
3: 30,051,875 (GRCm39) |
D180A |
probably damaging |
Het |
| Meis1 |
T |
C |
11: 18,891,741 (GRCm39) |
D269G |
probably benign |
Het |
| Myh7 |
A |
C |
14: 55,226,351 (GRCm39) |
S430A |
probably benign |
Het |
| Myo1h |
A |
G |
5: 114,474,325 (GRCm39) |
I439V |
probably damaging |
Het |
| Nat1 |
T |
C |
8: 67,944,134 (GRCm39) |
V170A |
possibly damaging |
Het |
| Nlrp12 |
A |
G |
7: 3,282,673 (GRCm39) |
L742P |
probably damaging |
Het |
| Nlrp4c |
A |
G |
7: 6,069,052 (GRCm39) |
T318A |
probably benign |
Het |
| Or4d10 |
T |
A |
19: 12,051,727 (GRCm39) |
I90F |
probably damaging |
Het |
| Or4k47 |
T |
A |
2: 111,451,531 (GRCm39) |
N296I |
probably benign |
Het |
| Or51ai2 |
A |
G |
7: 103,587,030 (GRCm39) |
I148V |
probably benign |
Het |
| Or8g33 |
G |
T |
9: 39,337,530 (GRCm39) |
T279N |
probably damaging |
Het |
| Or8g35 |
A |
T |
9: 39,381,926 (GRCm39) |
L32Q |
probably damaging |
Het |
| Otop3 |
A |
G |
11: 115,235,898 (GRCm39) |
E529G |
probably damaging |
Het |
| Parp6 |
T |
C |
9: 59,531,222 (GRCm39) |
Y35H |
probably damaging |
Het |
| Pcdhb4 |
A |
C |
18: 37,441,074 (GRCm39) |
D128A |
probably damaging |
Het |
| Phldb2 |
C |
T |
16: 45,569,113 (GRCm39) |
D1249N |
probably damaging |
Het |
| Pramel30 |
A |
T |
4: 144,059,717 (GRCm39) |
*476L |
probably null |
Het |
| Ptpn12 |
T |
A |
5: 21,192,466 (GRCm39) |
K765* |
probably null |
Het |
| Ptprb |
T |
A |
10: 116,182,912 (GRCm39) |
Y1529* |
probably null |
Het |
| Ptprc |
A |
T |
1: 138,006,189 (GRCm39) |
Y798N |
possibly damaging |
Het |
| Sdk2 |
G |
A |
11: 113,723,091 (GRCm39) |
T1300I |
probably damaging |
Het |
| Slc28a2b |
T |
C |
2: 122,355,288 (GRCm39) |
I555T |
probably benign |
Het |
| Sptbn2 |
G |
A |
19: 4,782,524 (GRCm39) |
V487I |
possibly damaging |
Het |
| Sptbn5 |
A |
G |
2: 119,876,750 (GRCm39) |
|
probably benign |
Het |
| Srpk1 |
A |
G |
17: 28,809,036 (GRCm39) |
S648P |
probably damaging |
Het |
| Stard9 |
T |
C |
2: 120,496,888 (GRCm39) |
|
probably null |
Het |
| Tmem135 |
A |
T |
7: 88,793,878 (GRCm39) |
I388N |
probably damaging |
Het |
| Trpv1 |
T |
C |
11: 73,136,862 (GRCm39) |
S482P |
probably damaging |
Het |
| Ugt3a1 |
C |
T |
15: 9,306,541 (GRCm39) |
A230V |
probably benign |
Het |
| Vmn2r15 |
A |
C |
5: 109,441,092 (GRCm39) |
Y255* |
probably null |
Het |
| Vmn2r60 |
A |
G |
7: 41,765,895 (GRCm39) |
M1V |
probably null |
Het |
| Vmn2r87 |
A |
G |
10: 130,314,869 (GRCm39) |
V239A |
probably damaging |
Het |
| Vwce |
T |
A |
19: 10,636,956 (GRCm39) |
C679* |
probably null |
Het |
| Zfp385b |
C |
T |
2: 77,246,185 (GRCm39) |
A281T |
probably benign |
Het |
| Zfp398 |
T |
G |
6: 47,843,529 (GRCm39) |
L395W |
probably damaging |
Het |
| Zfp442 |
C |
T |
2: 150,293,321 (GRCm39) |
|
probably null |
Het |
| Zfp606 |
A |
G |
7: 12,226,871 (GRCm39) |
S331G |
probably benign |
Het |
| Zfp882 |
A |
G |
8: 72,668,484 (GRCm39) |
H437R |
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 |
|
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 |
|
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'- CCACCATTTCCACAGTGCTG -3'
(R):5'- TTCTAGAAAAGCACGGTTCTGAAAG -3'
Sequencing Primer
(F):5'- AAGTGGGAGCCTTGTTCATAGAC -3'
(R):5'- CACGGTTCTGAAAGGAGTTTCAC -3'
|
| Posted On |
2018-05-04 |
Incidental Mutation