Incidental Mutation 'R5419:Top3a'
| ID |
427941 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Top3a
|
| Ensembl Gene |
ENSMUSG00000002814 |
| Gene Name |
topoisomerase (DNA) III alpha |
| Synonyms |
Top IIIa |
| MMRRC Submission |
042987-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R5419 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
60630884-60668191 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 60653348 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Isoleucine
at position 42
(T42I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000115727
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000002891]
[ENSMUST00000102668]
[ENSMUST00000117743]
[ENSMUST00000120417]
[ENSMUST00000130068]
|
| AlphaFold |
O70157 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000002891
AA Change: T87I
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000002891
Gene: ENSMUSG00000002814
AA Change: T87I
| 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: T87I
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000099729
Gene: ENSMUSG00000002814
AA Change: T87I
| 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: T62I
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000113057
Gene: ENSMUSG00000002814
AA Change: T62I
| 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: T62I
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000113653
Gene: ENSMUSG00000002814
AA Change: T62I
| 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 damaging
Transcript: ENSMUST00000130068
AA Change: T42I
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000115727
Gene: ENSMUSG00000002814
AA Change: T42I
| 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: 99.3%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.4%
|
| 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: 61 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4931429L15Rik |
C |
T |
9: 46,220,624 (GRCm39) |
|
probably null |
Het |
| Abca13 |
T |
A |
11: 9,143,533 (GRCm39) |
|
probably null |
Het |
| Akap13 |
A |
T |
7: 75,259,991 (GRCm39) |
T69S |
probably benign |
Het |
| Arl1 |
T |
A |
10: 88,572,966 (GRCm39) |
C80S |
probably damaging |
Het |
| Bltp2 |
T |
A |
11: 78,162,916 (GRCm39) |
L926* |
probably null |
Het |
| Brsk1 |
A |
G |
7: 4,712,003 (GRCm39) |
T618A |
possibly damaging |
Het |
| Cep295 |
T |
C |
9: 15,235,533 (GRCm39) |
H1982R |
probably damaging |
Het |
| Ces5a |
A |
T |
8: 94,226,059 (GRCm39) |
S559T |
unknown |
Het |
| Clcf1 |
A |
G |
19: 4,272,213 (GRCm39) |
N90S |
possibly damaging |
Het |
| Clec16a |
G |
A |
16: 10,549,543 (GRCm39) |
C872Y |
probably damaging |
Het |
| Cobll1 |
A |
T |
2: 64,933,701 (GRCm39) |
D430E |
possibly damaging |
Het |
| Cyp1a2 |
T |
A |
9: 57,589,794 (GRCm39) |
I7F |
probably benign |
Het |
| Cyp2b23 |
G |
A |
7: 26,380,848 (GRCm39) |
R126* |
probably null |
Het |
| Daam2 |
A |
G |
17: 49,787,782 (GRCm39) |
W444R |
possibly damaging |
Het |
| Dcbld2 |
T |
A |
16: 58,275,621 (GRCm39) |
C446S |
probably damaging |
Het |
| Dnase1l1 |
C |
T |
X: 73,320,644 (GRCm39) |
|
probably null |
Het |
| Eif2d |
T |
C |
1: 131,086,035 (GRCm39) |
*177R |
probably null |
Het |
| Fkbp15 |
G |
A |
4: 62,246,114 (GRCm39) |
A438V |
probably damaging |
Het |
| Gjb5 |
G |
A |
4: 127,249,652 (GRCm39) |
A164V |
probably benign |
Het |
| Grin1 |
A |
T |
2: 25,188,285 (GRCm39) |
|
probably null |
Het |
| Grm3 |
A |
G |
5: 9,620,233 (GRCm39) |
F337S |
probably damaging |
Het |
| Hey2 |
T |
A |
10: 30,710,019 (GRCm39) |
T245S |
probably benign |
Het |
| Ifi206 |
T |
C |
1: 173,308,797 (GRCm39) |
T400A |
probably benign |
Het |
| Itga7 |
G |
A |
10: 128,779,902 (GRCm39) |
E480K |
probably null |
Het |
| Itpr1 |
T |
C |
6: 108,470,755 (GRCm39) |
Y2227H |
possibly damaging |
Het |
| Krt8 |
T |
C |
15: 101,912,337 (GRCm39) |
D113G |
probably damaging |
Het |
| Lgr6 |
C |
T |
1: 134,921,748 (GRCm39) |
A199T |
probably damaging |
Het |
| Lins1 |
A |
G |
7: 66,357,843 (GRCm39) |
|
probably benign |
Het |
| Lmf1 |
A |
T |
17: 25,881,610 (GRCm39) |
D553V |
possibly damaging |
Het |
| Lnpep |
A |
G |
17: 17,786,992 (GRCm39) |
S536P |
probably damaging |
Het |
| Lrp1b |
A |
T |
2: 40,620,716 (GRCm39) |
C3587* |
probably null |
Het |
| Macf1 |
A |
T |
4: 123,290,917 (GRCm39) |
D3435E |
possibly damaging |
Het |
| Mmp1b |
T |
C |
9: 7,384,897 (GRCm39) |
I251V |
possibly damaging |
Het |
| Myg1 |
A |
T |
15: 102,245,397 (GRCm39) |
N206I |
probably damaging |
Het |
| Myl12a |
T |
G |
17: 71,301,694 (GRCm39) |
R144S |
probably benign |
Het |
| Myo5a |
T |
A |
9: 75,055,179 (GRCm39) |
I454K |
probably damaging |
Het |
| Nwd2 |
A |
G |
5: 63,965,051 (GRCm39) |
D1545G |
probably benign |
Het |
| Ogdhl |
T |
G |
14: 32,061,181 (GRCm39) |
D457E |
probably damaging |
Het |
| Or5ac20 |
T |
A |
16: 59,104,704 (GRCm39) |
D52V |
probably damaging |
Het |
| Or9s18 |
A |
C |
13: 65,300,588 (GRCm39) |
L183F |
probably damaging |
Het |
| Paf1 |
A |
G |
7: 28,095,095 (GRCm39) |
I112V |
possibly damaging |
Het |
| Pate7 |
T |
A |
9: 35,689,407 (GRCm39) |
|
probably null |
Het |
| Pcdhga4 |
C |
T |
18: 37,819,798 (GRCm39) |
P449L |
probably damaging |
Het |
| Pla2g6 |
A |
T |
15: 79,183,342 (GRCm39) |
I495N |
possibly damaging |
Het |
| Ptgs1 |
A |
G |
2: 36,127,234 (GRCm39) |
Y40C |
probably damaging |
Het |
| Ptprn2 |
A |
T |
12: 117,148,267 (GRCm39) |
I676F |
probably damaging |
Het |
| Rev3l |
T |
C |
10: 39,700,927 (GRCm39) |
L1808P |
possibly damaging |
Het |
| Sall2 |
A |
G |
14: 52,550,586 (GRCm39) |
S868P |
probably damaging |
Het |
| Shoc1 |
A |
T |
4: 59,049,017 (GRCm39) |
M1116K |
probably benign |
Het |
| Slc47a2 |
A |
G |
11: 61,198,412 (GRCm39) |
F428L |
probably benign |
Het |
| Slco1a7 |
C |
T |
6: 141,681,826 (GRCm39) |
|
probably null |
Het |
| Slco3a1 |
A |
T |
7: 73,934,363 (GRCm39) |
F603Y |
possibly damaging |
Het |
| Smyd2 |
A |
T |
1: 189,642,090 (GRCm39) |
C65* |
probably null |
Het |
| Ssu72 |
T |
C |
4: 155,800,007 (GRCm39) |
F57L |
probably damaging |
Het |
| Tanc2 |
A |
G |
11: 105,813,709 (GRCm39) |
T1718A |
probably benign |
Het |
| Tnks |
G |
C |
8: 35,432,720 (GRCm39) |
P34A |
unknown |
Het |
| Trank1 |
T |
C |
9: 111,220,369 (GRCm39) |
S2369P |
probably damaging |
Het |
| Ttn |
A |
T |
2: 76,641,587 (GRCm39) |
L5176Q |
possibly damaging |
Het |
| Ubqln1 |
T |
C |
13: 58,330,997 (GRCm39) |
Q410R |
probably damaging |
Het |
| Vmn2r11 |
A |
G |
5: 109,207,224 (GRCm39) |
I32T |
possibly damaging |
Het |
| Xcr1 |
A |
G |
9: 123,685,375 (GRCm39) |
F129S |
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 |
|
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'- TCCAGGTTGCACTGAAAAGAGTG -3'
(R):5'- AATGGTGGCTGTATCAACATGG -3'
Sequencing Primer
(F):5'- CTTACAGCAGGTCATATAGCCTTAGG -3'
(R):5'- ATCAACATGGTTTTGGTTTTGCC -3'
|
| Posted On |
2016-09-01 |
Incidental Mutation