Incidental Mutation 'R4695:Top3a'
| ID |
355644 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Top3a
|
| Ensembl Gene |
ENSMUSG00000002814 |
| Gene Name |
topoisomerase (DNA) III alpha |
| Synonyms |
Top IIIa |
| MMRRC Submission |
042016-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R4695 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
60630884-60668191 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 60633238 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 953
(S953P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000099729
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000002891]
[ENSMUST00000102668]
[ENSMUST00000117743]
[ENSMUST00000120417]
|
| AlphaFold |
O70157 |
| Predicted Effect |
probably benign
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
AA Change: S953P
PolyPhen 2
Score 0.399 (Sensitivity: 0.89; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000099729
Gene: ENSMUSG00000002814
AA Change: S953P
| 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 |
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 95.0%
|
| 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: 68 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts10 |
T |
A |
17: 33,750,713 (GRCm39) |
M251K |
possibly damaging |
Het |
| Adcy2 |
A |
T |
13: 68,875,962 (GRCm39) |
H513Q |
possibly damaging |
Het |
| Afg2a |
T |
G |
3: 37,512,474 (GRCm39) |
F713C |
probably damaging |
Het |
| Ahctf1 |
A |
G |
1: 179,580,619 (GRCm39) |
L1861P |
possibly damaging |
Het |
| Apc2 |
C |
A |
10: 80,146,877 (GRCm39) |
R615S |
probably damaging |
Het |
| Arhgap45 |
A |
C |
10: 79,861,364 (GRCm39) |
D509A |
probably damaging |
Het |
| Atp6v1c2 |
T |
C |
12: 17,351,208 (GRCm39) |
T108A |
probably benign |
Het |
| Blm |
T |
A |
7: 80,143,976 (GRCm39) |
D821V |
probably damaging |
Het |
| C3 |
T |
A |
17: 57,528,057 (GRCm39) |
I721L |
probably benign |
Het |
| Ccdc13 |
A |
T |
9: 121,649,826 (GRCm39) |
V207E |
probably damaging |
Het |
| Ccndbp1 |
C |
T |
2: 120,845,208 (GRCm39) |
|
probably benign |
Het |
| Cd180 |
A |
C |
13: 102,842,268 (GRCm39) |
Q438P |
probably benign |
Het |
| Cd248 |
C |
T |
19: 5,118,473 (GRCm39) |
T107M |
probably damaging |
Het |
| Cdan1 |
G |
A |
2: 120,558,864 (GRCm39) |
R445C |
probably damaging |
Het |
| Cic |
C |
A |
7: 24,973,013 (GRCm39) |
H915N |
possibly damaging |
Het |
| Cox8c |
T |
C |
12: 102,865,742 (GRCm39) |
S40P |
possibly damaging |
Het |
| Cyp2d34 |
A |
T |
15: 82,501,092 (GRCm39) |
C347S |
probably benign |
Het |
| Dhx30 |
A |
T |
9: 109,914,356 (GRCm39) |
F974I |
probably damaging |
Het |
| Dlec1 |
A |
T |
9: 118,972,221 (GRCm39) |
T1414S |
probably benign |
Het |
| Dlg2 |
C |
A |
7: 92,087,170 (GRCm39) |
|
probably null |
Het |
| Dynlt5 |
T |
A |
4: 102,861,426 (GRCm39) |
I136K |
probably damaging |
Het |
| Dzip1l |
T |
A |
9: 99,529,258 (GRCm39) |
M329K |
probably benign |
Het |
| Dzip3 |
A |
T |
16: 48,771,924 (GRCm39) |
L582I |
probably damaging |
Het |
| Emilin2 |
T |
C |
17: 71,559,773 (GRCm39) |
Y1068C |
probably damaging |
Het |
| Fam221b |
T |
A |
4: 43,659,622 (GRCm39) |
|
probably null |
Het |
| Fbxw22 |
A |
G |
9: 109,207,939 (GRCm39) |
I444T |
probably damaging |
Het |
| Flnc |
T |
A |
6: 29,440,428 (GRCm39) |
N245K |
probably damaging |
Het |
| Fnip1 |
T |
A |
11: 54,390,245 (GRCm39) |
I380N |
probably damaging |
Het |
| Gbf1 |
C |
T |
19: 46,247,606 (GRCm39) |
R181* |
probably null |
Het |
| Igkv6-17 |
T |
A |
6: 70,348,486 (GRCm39) |
F12I |
probably benign |
Het |
| Itln1 |
C |
A |
1: 171,358,645 (GRCm39) |
G174V |
probably damaging |
Het |
| Lrrc52 |
A |
G |
1: 167,293,660 (GRCm39) |
|
probably null |
Het |
| LTO1 |
T |
C |
7: 144,482,715 (GRCm39) |
|
probably null |
Het |
| Matn2 |
A |
G |
15: 34,403,071 (GRCm39) |
Y432C |
probably damaging |
Het |
| Metap1d |
A |
G |
2: 71,355,305 (GRCm39) |
*336W |
probably null |
Het |
| Mgam2-ps |
T |
A |
6: 40,779,489 (GRCm39) |
|
noncoding transcript |
Het |
| Mrps9 |
T |
A |
1: 42,901,675 (GRCm39) |
V61D |
possibly damaging |
Het |
| Myh7b |
T |
C |
2: 155,456,097 (GRCm39) |
Y161H |
probably damaging |
Het |
| Myh9 |
T |
A |
15: 77,653,053 (GRCm39) |
D1428V |
probably damaging |
Het |
| N4bp3 |
A |
T |
11: 51,535,306 (GRCm39) |
|
probably null |
Het |
| Nat9 |
T |
A |
11: 115,075,416 (GRCm39) |
Q75L |
probably benign |
Het |
| Nop2 |
T |
C |
6: 125,121,519 (GRCm39) |
V767A |
probably benign |
Het |
| Ntrk2 |
A |
G |
13: 59,274,307 (GRCm39) |
K728E |
probably damaging |
Het |
| Or51e1 |
T |
G |
7: 102,358,764 (GRCm39) |
C99W |
probably damaging |
Het |
| Or5p72 |
G |
A |
7: 108,022,196 (GRCm39) |
M139I |
probably benign |
Het |
| Or7g21 |
T |
A |
9: 19,032,306 (GRCm39) |
H15Q |
probably null |
Het |
| Pcdhgb2 |
A |
G |
18: 37,825,375 (GRCm39) |
T789A |
probably benign |
Het |
| Pcyt2 |
T |
C |
11: 120,502,000 (GRCm39) |
D321G |
probably benign |
Het |
| Rad9a |
G |
A |
19: 4,250,560 (GRCm39) |
R85C |
probably damaging |
Het |
| Rbbp8 |
A |
T |
18: 11,854,839 (GRCm39) |
K355* |
probably null |
Het |
| Rhag |
T |
C |
17: 41,147,358 (GRCm39) |
Y407H |
probably damaging |
Het |
| Robo4 |
G |
A |
9: 37,314,495 (GRCm39) |
V161M |
probably damaging |
Het |
| Rpl27-ps3 |
C |
A |
18: 6,332,922 (GRCm39) |
N97K |
probably benign |
Het |
| Slc45a4 |
A |
G |
15: 73,453,924 (GRCm39) |
I691T |
possibly damaging |
Het |
| Slc9a9 |
A |
T |
9: 94,818,502 (GRCm39) |
|
probably benign |
Het |
| Stard13 |
A |
G |
5: 150,984,280 (GRCm39) |
F619L |
probably benign |
Het |
| Stt3b |
A |
T |
9: 115,083,862 (GRCm39) |
V438E |
probably damaging |
Het |
| Tacr3 |
C |
T |
3: 134,535,182 (GRCm39) |
T50I |
probably benign |
Het |
| Tacr3 |
G |
T |
3: 134,635,690 (GRCm39) |
C298F |
probably damaging |
Het |
| Taok3 |
C |
T |
5: 117,366,131 (GRCm39) |
T394M |
probably benign |
Het |
| Tgfb1i1 |
A |
G |
7: 127,848,348 (GRCm39) |
D128G |
probably damaging |
Het |
| Tgfbr3l |
G |
T |
8: 4,300,574 (GRCm39) |
V251L |
probably benign |
Het |
| Tom1l2 |
C |
G |
11: 60,161,259 (GRCm39) |
R84P |
probably damaging |
Het |
| Trappc10 |
T |
C |
10: 78,033,697 (GRCm39) |
K957E |
probably damaging |
Het |
| Ttn |
T |
A |
2: 76,565,668 (GRCm39) |
E28228V |
probably damaging |
Het |
| Ttn |
T |
A |
2: 76,585,168 (GRCm39) |
I22042F |
probably damaging |
Het |
| Vdr |
A |
T |
15: 97,756,801 (GRCm39) |
|
probably null |
Het |
| Zfp42 |
A |
T |
8: 43,749,168 (GRCm39) |
L111Q |
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 |
|
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 |
|
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'- CTACCTCACTTGTGAAATTGTGATG -3'
(R):5'- ACAGTGATGGAGGTACACCC -3'
Sequencing Primer
(F):5'- TGTAATGCAGATGAAAGATGCCTG -3'
(R):5'- AGGTACACCCTGCCTGTG -3'
|
| Posted On |
2015-10-21 |
Incidental Mutation