Incidental Mutation 'R6381:Top3a'
| ID |
515325 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Top3a
|
| Ensembl Gene |
ENSMUSG00000002814 |
| Gene Name |
topoisomerase (DNA) III alpha |
| Synonyms |
Top IIIa |
| MMRRC Submission |
044530-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R6381 (G1)
|
| Quality Score |
223.009 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
60630884-60668191 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 60634849 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Tyrosine
at position 660
(C660Y)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000113653
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000002891]
[ENSMUST00000102668]
[ENSMUST00000117743]
[ENSMUST00000120417]
|
| AlphaFold |
O70157 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000002891
AA Change: C685Y
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000002891
Gene: ENSMUSG00000002814
AA Change: C685Y
| 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: C685Y
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000099729
Gene: ENSMUSG00000002814
AA Change: C685Y
| 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: C660Y
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000113057
Gene: ENSMUSG00000002814
AA Change: C660Y
| 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: C660Y
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000113653
Gene: ENSMUSG00000002814
AA Change: C660Y
| 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 |
|
| Meta Mutation Damage Score |
0.9504 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.2%
- 20x: 97.2%
|
| Validation Efficiency |
97% (56/58) |
| 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: 56 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930503L19Rik |
T |
A |
18: 70,600,788 (GRCm39) |
M365L |
probably damaging |
Het |
| Aars2 |
A |
G |
17: 45,829,471 (GRCm39) |
E786G |
probably benign |
Het |
| Adamts12 |
G |
T |
15: 11,257,080 (GRCm39) |
V478F |
possibly damaging |
Het |
| Akr1c21 |
T |
A |
13: 4,624,183 (GRCm39) |
D12E |
probably damaging |
Het |
| Aplf |
A |
T |
6: 87,635,959 (GRCm39) |
M118K |
probably damaging |
Het |
| Apobec1 |
A |
G |
6: 122,555,890 (GRCm39) |
L189P |
probably damaging |
Het |
| BC061237 |
A |
G |
14: 44,741,713 (GRCm39) |
Q152R |
possibly damaging |
Het |
| Bche |
A |
G |
3: 73,609,132 (GRCm39) |
I98T |
probably benign |
Het |
| Cc2d2a |
G |
T |
5: 43,873,118 (GRCm39) |
R983L |
possibly damaging |
Het |
| Ccnd3 |
T |
C |
17: 47,816,149 (GRCm39) |
|
probably benign |
Het |
| Cd74 |
G |
T |
18: 60,944,435 (GRCm39) |
C215F |
probably damaging |
Het |
| Cep97 |
C |
T |
16: 55,742,534 (GRCm39) |
A138T |
probably damaging |
Het |
| Ces1e |
T |
A |
8: 93,944,206 (GRCm39) |
N204I |
probably damaging |
Het |
| Dicer1 |
T |
C |
12: 104,662,721 (GRCm39) |
D1620G |
probably benign |
Het |
| Dnah17 |
A |
G |
11: 118,020,011 (GRCm39) |
V12A |
probably benign |
Het |
| Dstyk |
T |
A |
1: 132,384,503 (GRCm39) |
|
probably null |
Het |
| Elapor1 |
T |
C |
3: 108,389,130 (GRCm39) |
K222E |
possibly damaging |
Het |
| Eml2 |
G |
A |
7: 18,935,088 (GRCm39) |
V432I |
probably damaging |
Het |
| Entr1 |
A |
G |
2: 26,275,093 (GRCm39) |
|
probably null |
Het |
| Gm10570 |
G |
T |
4: 130,202,021 (GRCm39) |
|
probably benign |
Het |
| Gm7145 |
C |
T |
1: 117,913,669 (GRCm39) |
Q184* |
probably null |
Het |
| Gpat2 |
G |
C |
2: 127,273,838 (GRCm39) |
G294R |
possibly damaging |
Het |
| Gtse1 |
G |
A |
15: 85,746,349 (GRCm39) |
R55H |
probably benign |
Het |
| Hdac4 |
G |
T |
1: 91,912,247 (GRCm39) |
Q381K |
possibly damaging |
Het |
| Ifit3b |
T |
C |
19: 34,589,871 (GRCm39) |
I349T |
probably benign |
Het |
| Inpp5a |
A |
T |
7: 138,980,589 (GRCm39) |
D9V |
probably benign |
Het |
| Irs1 |
T |
C |
1: 82,265,405 (GRCm39) |
N937S |
possibly damaging |
Het |
| Kcna4 |
T |
C |
2: 107,125,317 (GRCm39) |
M17T |
probably benign |
Het |
| Lipa |
T |
A |
19: 34,502,146 (GRCm39) |
M33L |
probably benign |
Het |
| Marchf6 |
G |
T |
15: 31,467,838 (GRCm39) |
Q790K |
probably benign |
Het |
| Mccc1 |
G |
A |
3: 36,030,876 (GRCm39) |
P397S |
probably benign |
Het |
| Mrgprb2 |
T |
C |
7: 48,202,138 (GRCm39) |
I196V |
probably benign |
Het |
| Myh15 |
T |
A |
16: 48,921,844 (GRCm39) |
S463R |
probably damaging |
Het |
| Nab2 |
T |
C |
10: 127,500,220 (GRCm39) |
K291E |
probably damaging |
Het |
| Neto2 |
T |
C |
8: 86,369,138 (GRCm39) |
T294A |
probably damaging |
Het |
| Nkx1-1 |
T |
C |
5: 33,591,320 (GRCm39) |
M1V |
probably null |
Het |
| Or2h2 |
C |
T |
17: 37,396,977 (GRCm39) |
V27I |
probably benign |
Het |
| Pla2g4c |
C |
T |
7: 13,077,933 (GRCm39) |
T357I |
probably benign |
Het |
| Psmd2 |
A |
G |
16: 20,474,023 (GRCm39) |
E242G |
probably benign |
Het |
| Rnase12 |
A |
C |
14: 51,294,551 (GRCm39) |
Y43D |
probably damaging |
Het |
| Rpl18 |
T |
A |
7: 45,369,016 (GRCm39) |
F58I |
probably damaging |
Het |
| Ryr1 |
T |
G |
7: 28,774,682 (GRCm39) |
M2313L |
possibly damaging |
Het |
| Scn4a |
G |
T |
11: 106,211,137 (GRCm39) |
Q1627K |
probably damaging |
Het |
| Scnn1g |
A |
G |
7: 121,366,722 (GRCm39) |
S640G |
probably benign |
Het |
| Sdr9c7 |
T |
A |
10: 127,739,542 (GRCm39) |
M219K |
probably benign |
Het |
| Soat1 |
A |
T |
1: 156,263,373 (GRCm39) |
M392K |
probably damaging |
Het |
| Spata18 |
G |
T |
5: 73,832,559 (GRCm39) |
K337N |
probably damaging |
Het |
| Supt16 |
A |
G |
14: 52,417,003 (GRCm39) |
V325A |
probably benign |
Het |
| Syt2 |
A |
G |
1: 134,674,588 (GRCm39) |
E342G |
probably damaging |
Het |
| Tars2 |
A |
T |
3: 95,661,799 (GRCm39) |
L37* |
probably null |
Het |
| Tep1 |
T |
C |
14: 51,082,888 (GRCm39) |
D1040G |
probably damaging |
Het |
| Tmc8 |
A |
T |
11: 117,682,426 (GRCm39) |
S613C |
probably null |
Het |
| Tpsg1 |
C |
T |
17: 25,591,543 (GRCm39) |
R48C |
probably damaging |
Het |
| Vmn2r57 |
T |
C |
7: 41,078,242 (GRCm39) |
N72S |
probably benign |
Het |
| Whrn |
G |
A |
4: 63,390,921 (GRCm39) |
T269I |
probably benign |
Het |
| Zfp759 |
T |
A |
13: 67,286,969 (GRCm39) |
Y173* |
probably null |
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 |
|
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'- TGAGAACAGCATTGCCTAGAG -3'
(R):5'- GTGTGTTCCAAGTGTAAGCCAAG -3'
Sequencing Primer
(F):5'- CTACAGGTTGAGAACTTCTGCCCTAG -3'
(R):5'- TAGAGTCTGGTGGCACATACC -3'
|
| Posted On |
2018-05-04 |
Incidental Mutation