Incidental Mutation 'R9102:Top3a'
| ID |
691771 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Top3a
|
| Ensembl Gene |
ENSMUSG00000002814 |
| Gene Name |
topoisomerase (DNA) III alpha |
| Synonyms |
Top IIIa |
| MMRRC Submission |
068916-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R9102 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
60630884-60668191 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 60647155 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Glycine
at position 255
(R255G)
|
| 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: R255G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000002891
Gene: ENSMUSG00000002814
AA Change: R255G
| 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: R255G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000099729
Gene: ENSMUSG00000002814
AA Change: R255G
| 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: R230G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000113057
Gene: ENSMUSG00000002814
AA Change: R230G
| 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: R230G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000113653
Gene: ENSMUSG00000002814
AA Change: R230G
| 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: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
| Validation Efficiency |
97% (62/64) |
| 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: 63 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb9 |
T |
C |
5: 124,228,176 (GRCm39) |
T22A |
possibly damaging |
Het |
| Adam33 |
T |
C |
2: 130,897,737 (GRCm39) |
Q227R |
probably benign |
Het |
| Adgrb2 |
G |
A |
4: 129,912,802 (GRCm39) |
G1276D |
probably benign |
Het |
| Adra1b |
A |
G |
11: 43,667,056 (GRCm39) |
S394P |
possibly damaging |
Het |
| Arap2 |
T |
A |
5: 62,906,341 (GRCm39) |
H226L |
probably benign |
Het |
| Bckdk |
A |
G |
7: 127,506,658 (GRCm39) |
D297G |
probably null |
Het |
| Brwd1 |
T |
C |
16: 95,869,725 (GRCm39) |
T101A |
probably benign |
Het |
| Ciita |
A |
G |
16: 10,324,565 (GRCm39) |
R166G |
probably benign |
Het |
| Cnksr1 |
A |
G |
4: 133,956,323 (GRCm39) |
F587S |
probably damaging |
Het |
| Col4a1 |
A |
T |
8: 11,253,007 (GRCm39) |
C1548S |
possibly damaging |
Het |
| Cxcl15 |
G |
T |
5: 90,949,154 (GRCm39) |
M106I |
|
Het |
| Dennd6a |
T |
C |
14: 26,350,689 (GRCm39) |
I598T |
probably damaging |
Het |
| Dlg5 |
G |
A |
14: 24,199,567 (GRCm39) |
P1446S |
probably damaging |
Het |
| Dnah6 |
A |
T |
6: 73,044,469 (GRCm39) |
I3214N |
probably benign |
Het |
| Dnmt3b |
T |
C |
2: 153,518,703 (GRCm39) |
V622A |
probably damaging |
Het |
| Fam170b |
T |
A |
14: 32,557,404 (GRCm39) |
S80T |
probably damaging |
Het |
| Fbxl13 |
G |
T |
5: 21,837,801 (GRCm39) |
H45Q |
probably benign |
Het |
| Fbxo39 |
T |
C |
11: 72,208,316 (GRCm39) |
F223L |
possibly damaging |
Het |
| Fndc3b |
C |
A |
3: 27,523,014 (GRCm39) |
|
probably null |
Het |
| Gbp3 |
G |
C |
3: 142,273,586 (GRCm39) |
V378L |
probably benign |
Het |
| Gc |
C |
T |
5: 89,591,444 (GRCm39) |
S98N |
probably benign |
Het |
| Gck |
A |
G |
11: 5,856,516 (GRCm39) |
Y214H |
probably damaging |
Het |
| Gpr158 |
A |
T |
2: 21,830,078 (GRCm39) |
S708C |
probably damaging |
Het |
| Hmcn1 |
A |
T |
1: 150,573,331 (GRCm39) |
M2106K |
probably benign |
Het |
| Hoxd11 |
T |
A |
2: 74,513,274 (GRCm39) |
Y180N |
possibly damaging |
Het |
| Hydin |
A |
G |
8: 111,235,546 (GRCm39) |
I1844V |
probably benign |
Het |
| Knl1 |
T |
C |
2: 118,917,973 (GRCm39) |
I1777T |
probably benign |
Het |
| Krt33b |
A |
C |
11: 99,915,846 (GRCm39) |
L300R |
probably damaging |
Het |
| Madd |
C |
T |
2: 90,988,404 (GRCm39) |
A1208T |
probably benign |
Het |
| Meis2 |
T |
A |
2: 115,694,760 (GRCm39) |
N461I |
probably benign |
Het |
| Mgat1 |
T |
A |
11: 49,152,165 (GRCm39) |
V216E |
probably damaging |
Het |
| Nox4 |
G |
A |
7: 87,025,448 (GRCm39) |
R525Q |
probably benign |
Het |
| Npc1l1 |
C |
T |
11: 6,164,684 (GRCm39) |
V1122M |
possibly damaging |
Het |
| Nrsn1 |
A |
G |
13: 25,437,517 (GRCm39) |
M137T |
probably benign |
Het |
| Nrxn3 |
T |
C |
12: 90,298,924 (GRCm39) |
S1015P |
probably benign |
Het |
| Nudt22 |
T |
A |
19: 6,972,119 (GRCm39) |
I166F |
probably benign |
Het |
| Or10d1b |
A |
C |
9: 39,613,984 (GRCm39) |
V27G |
probably benign |
Het |
| Or5j1 |
C |
T |
2: 86,879,171 (GRCm39) |
M136I |
possibly damaging |
Het |
| Or6k4 |
A |
T |
1: 173,964,322 (GRCm39) |
N4I |
|
Het |
| Or6n2 |
T |
A |
1: 173,897,176 (GRCm39) |
F104Y |
probably damaging |
Het |
| Or8b4 |
T |
A |
9: 37,829,992 (GRCm39) |
I13N |
probably damaging |
Het |
| Or8g31-ps1 |
C |
T |
9: 39,276,388 (GRCm39) |
P178S |
unknown |
Het |
| Pcdha4 |
T |
A |
18: 37,087,630 (GRCm39) |
N604K |
probably damaging |
Het |
| Plxnc1 |
C |
T |
10: 94,663,107 (GRCm39) |
V1181M |
probably damaging |
Het |
| Pms1 |
G |
C |
1: 53,307,021 (GRCm39) |
H128Q |
probably benign |
Het |
| Prkar2b |
G |
A |
12: 32,013,025 (GRCm39) |
H364Y |
probably benign |
Het |
| Pus7 |
A |
T |
5: 23,957,380 (GRCm39) |
I357K |
possibly damaging |
Het |
| Rsf1 |
GCGGC |
GCGGCGGCGCCGGC |
7: 97,229,138 (GRCm39) |
|
probably benign |
Het |
| Ryr3 |
T |
C |
2: 112,508,906 (GRCm39) |
|
probably benign |
Het |
| Siglec1 |
T |
C |
2: 130,915,389 (GRCm39) |
I1401V |
probably benign |
Het |
| Slc6a6 |
G |
T |
6: 91,731,940 (GRCm39) |
V590L |
probably benign |
Het |
| Slc9b1 |
C |
T |
3: 135,100,725 (GRCm39) |
P490L |
probably damaging |
Het |
| Sprn |
T |
C |
7: 139,733,278 (GRCm39) |
D98G |
possibly damaging |
Het |
| Srrm4 |
T |
C |
5: 116,620,563 (GRCm39) |
D55G |
unknown |
Het |
| Sugct |
A |
G |
13: 17,497,833 (GRCm39) |
V280A |
probably benign |
Het |
| Tbx6 |
A |
G |
7: 126,381,014 (GRCm39) |
E83G |
possibly damaging |
Het |
| Tmem120a |
T |
C |
5: 135,765,455 (GRCm39) |
T209A |
probably benign |
Het |
| Trav6-1 |
T |
A |
14: 52,876,008 (GRCm39) |
F13I |
probably benign |
Het |
| Tsnaxip1 |
A |
G |
8: 106,568,622 (GRCm39) |
E410G |
probably benign |
Het |
| Ubr5 |
A |
G |
15: 38,018,596 (GRCm39) |
V842A |
|
Het |
| Ubtf |
A |
G |
11: 102,201,015 (GRCm39) |
|
probably null |
Het |
| Vwa3b |
G |
A |
1: 37,174,593 (GRCm39) |
M1I |
probably null |
Het |
| Zfp518b |
T |
C |
5: 38,831,181 (GRCm39) |
T275A |
probably benign |
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 |
|
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'- TGCATATGGGCAGGTACAGG -3'
(R):5'- GAGCCAACACAGCTTCATGG -3'
Sequencing Primer
(F):5'- GGCAGGTACAGGGCAGC -3'
(R):5'- CCAACACAGCTTCATGGTTTATGG -3'
|
| Posted On |
2021-12-30 |
Incidental Mutation