Incidental Mutation 'IGL02935:Top3a'
| ID |
364281 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Top3a
|
| Ensembl Gene |
ENSMUSG00000002814 |
| Gene Name |
topoisomerase (DNA) III alpha |
| Synonyms |
Top IIIa |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL02935
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
11 |
| Chromosomal Location |
60630884-60668191 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 60653354 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Lysine
at position 85
(I85K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000002891
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000002891]
[ENSMUST00000102668]
[ENSMUST00000117743]
[ENSMUST00000120417]
[ENSMUST00000130068]
|
| AlphaFold |
O70157 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000002891
AA Change: I85K
PolyPhen 2
Score 0.534 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000002891
Gene: ENSMUSG00000002814
AA Change: I85K
| 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: I85K
PolyPhen 2
Score 0.365 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000099729
Gene: ENSMUSG00000002814
AA Change: I85K
| 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: I60K
PolyPhen 2
Score 0.184 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000113057
Gene: ENSMUSG00000002814
AA Change: I60K
| 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: I60K
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000113653
Gene: ENSMUSG00000002814
AA Change: I60K
| 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 benign
Transcript: ENSMUST00000130068
AA Change: I40K
PolyPhen 2
Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)
|
| SMART Domains |
Protein: ENSMUSP00000115727
Gene: ENSMUSG00000002814
AA Change: I40K
| 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 |
|
| 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: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4833439L19Rik |
G |
A |
13: 54,709,675 (GRCm39) |
P13L |
possibly damaging |
Het |
| A930016O22Rik |
A |
T |
7: 19,154,338 (GRCm39) |
|
probably benign |
Het |
| Ajuba |
A |
G |
14: 54,807,924 (GRCm39) |
F436S |
probably damaging |
Het |
| Bptf |
C |
A |
11: 106,971,625 (GRCm39) |
A961S |
probably damaging |
Het |
| Brca1 |
A |
G |
11: 101,380,693 (GRCm39) |
V1780A |
probably benign |
Het |
| Bub1 |
A |
G |
2: 127,643,215 (GRCm39) |
L1043S |
probably damaging |
Het |
| Cngb3 |
T |
A |
4: 19,425,491 (GRCm39) |
M433K |
possibly damaging |
Het |
| Col4a1 |
T |
C |
8: 11,269,166 (GRCm39) |
D928G |
probably damaging |
Het |
| Colq |
G |
A |
14: 31,257,591 (GRCm39) |
P259S |
probably damaging |
Het |
| Csmd1 |
T |
C |
8: 16,273,348 (GRCm39) |
Y828C |
probably damaging |
Het |
| Dennd5a |
T |
C |
7: 109,520,514 (GRCm39) |
R448G |
possibly damaging |
Het |
| Dip2c |
A |
G |
13: 9,712,182 (GRCm39) |
D1435G |
probably damaging |
Het |
| Dst |
T |
A |
1: 34,225,926 (GRCm39) |
L1188* |
probably null |
Het |
| Duox1 |
G |
T |
2: 122,155,000 (GRCm39) |
G462C |
possibly damaging |
Het |
| Flcn |
A |
T |
11: 59,686,062 (GRCm39) |
I402N |
possibly damaging |
Het |
| Fuca2 |
G |
A |
10: 13,383,063 (GRCm39) |
E344K |
probably null |
Het |
| Golim4 |
T |
C |
3: 75,802,299 (GRCm39) |
H331R |
possibly damaging |
Het |
| Grid1 |
A |
T |
14: 34,544,515 (GRCm39) |
I29F |
possibly damaging |
Het |
| Hltf |
T |
A |
3: 20,123,215 (GRCm39) |
F201Y |
probably damaging |
Het |
| Ipo8 |
A |
T |
6: 148,691,339 (GRCm39) |
I677N |
probably benign |
Het |
| Meioc |
A |
G |
11: 102,563,017 (GRCm39) |
T72A |
probably benign |
Het |
| Meox2 |
A |
T |
12: 37,159,104 (GRCm39) |
H92L |
probably damaging |
Het |
| Mlec |
C |
A |
5: 115,295,873 (GRCm39) |
R74L |
probably benign |
Het |
| Mrpl58 |
G |
A |
11: 115,301,054 (GRCm39) |
|
probably benign |
Het |
| Mtch1 |
T |
C |
17: 29,555,184 (GRCm39) |
D288G |
probably benign |
Het |
| Myo16 |
A |
G |
8: 10,582,990 (GRCm39) |
E1090G |
probably benign |
Het |
| Nicn1 |
A |
G |
9: 108,167,845 (GRCm39) |
N39S |
probably benign |
Het |
| Nlrp9c |
A |
G |
7: 26,084,701 (GRCm39) |
S293P |
probably benign |
Het |
| Or2bd2 |
G |
A |
7: 6,443,753 (GRCm39) |
V285M |
possibly damaging |
Het |
| Or51b4 |
T |
C |
7: 103,530,871 (GRCm39) |
N193S |
probably damaging |
Het |
| Or5al1 |
G |
T |
2: 85,990,714 (GRCm39) |
|
probably benign |
Het |
| Pcdh20 |
T |
A |
14: 88,704,438 (GRCm39) |
|
probably benign |
Het |
| Peg3 |
C |
A |
7: 6,714,128 (GRCm39) |
V365F |
probably damaging |
Het |
| Penk |
A |
G |
4: 4,133,843 (GRCm39) |
F268S |
probably damaging |
Het |
| Pitrm1 |
T |
A |
13: 6,603,300 (GRCm39) |
Y116N |
probably damaging |
Het |
| Prex1 |
C |
A |
2: 166,412,265 (GRCm39) |
G389C |
probably damaging |
Het |
| Ptch2 |
C |
T |
4: 116,971,967 (GRCm39) |
A1163V |
probably damaging |
Het |
| Rasgrp3 |
G |
A |
17: 75,804,065 (GRCm39) |
V123I |
probably benign |
Het |
| Slc36a2 |
G |
T |
11: 55,060,854 (GRCm39) |
N185K |
possibly damaging |
Het |
| Sox9 |
G |
T |
11: 112,676,175 (GRCm39) |
G455C |
probably damaging |
Het |
| St6galnac1 |
G |
T |
11: 116,660,171 (GRCm39) |
D47E |
probably benign |
Het |
| Taar5 |
A |
T |
10: 23,847,415 (GRCm39) |
D271V |
probably damaging |
Het |
| Ttll8 |
T |
A |
15: 88,798,759 (GRCm39) |
M659L |
probably benign |
Het |
| Ythdc2 |
C |
T |
18: 44,988,112 (GRCm39) |
R656C |
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 |
|
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 |
|
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 |
|
|
| Posted On |
2015-12-18 |
Incidental Mutation