Incidental Mutation 'R2418:Top3a'
| ID |
249089 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Top3a
|
| Ensembl Gene |
ENSMUSG00000002814 |
| Gene Name |
topoisomerase (DNA) III alpha |
| Synonyms |
Top IIIa |
| MMRRC Submission |
040380-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R2418 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
60630884-60668191 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 60638842 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glycine to Valine
at position 551
(G551V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000113057
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000002891]
[ENSMUST00000102668]
[ENSMUST00000117743]
[ENSMUST00000120417]
|
| AlphaFold |
O70157 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000002891
AA Change: G576V
PolyPhen 2
Score 0.947 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000002891
Gene: ENSMUSG00000002814
AA Change: G576V
| 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 |
possibly damaging
Transcript: ENSMUST00000102668
AA Change: G576V
PolyPhen 2
Score 0.947 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000099729
Gene: ENSMUSG00000002814
AA Change: G576V
| 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 |
possibly damaging
Transcript: ENSMUST00000117743
AA Change: G551V
PolyPhen 2
Score 0.947 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000113057
Gene: ENSMUSG00000002814
AA Change: G551V
| 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: G551V
PolyPhen 2
Score 0.279 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000113653
Gene: ENSMUSG00000002814
AA Change: G551V
| 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 |
noncoding transcript
Transcript: ENSMUST00000124799
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 94.8%
|
| 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: 59 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca2 |
G |
A |
2: 25,328,001 (GRCm39) |
A768T |
probably benign |
Het |
| Acox3 |
A |
G |
5: 35,761,982 (GRCm39) |
N442S |
probably benign |
Het |
| Acp5 |
C |
A |
9: 22,041,248 (GRCm39) |
V60L |
probably benign |
Het |
| Arap3 |
T |
C |
18: 38,122,997 (GRCm39) |
D501G |
probably damaging |
Het |
| Bcorl1 |
A |
G |
X: 47,459,418 (GRCm39) |
T425A |
probably damaging |
Het |
| Btd |
G |
A |
14: 31,363,093 (GRCm39) |
|
probably null |
Het |
| Cfap251 |
A |
C |
5: 123,392,331 (GRCm39) |
|
probably benign |
Het |
| Cfap74 |
T |
A |
4: 155,540,166 (GRCm39) |
|
probably benign |
Het |
| Cnot8 |
G |
A |
11: 58,006,136 (GRCm39) |
G222R |
probably damaging |
Het |
| Col4a4 |
G |
T |
1: 82,510,657 (GRCm39) |
A205E |
unknown |
Het |
| Cwf19l1 |
T |
C |
19: 44,119,911 (GRCm39) |
T77A |
probably benign |
Het |
| Cyp2b9 |
A |
G |
7: 25,886,132 (GRCm39) |
T100A |
probably benign |
Het |
| Ddx24 |
A |
G |
12: 103,383,996 (GRCm39) |
L485P |
probably damaging |
Het |
| Dnah9 |
A |
T |
11: 65,986,241 (GRCm39) |
L1131* |
probably null |
Het |
| Dnase1l3 |
T |
A |
14: 7,968,089 (GRCm38) |
E272V |
possibly damaging |
Het |
| Dscc1 |
G |
A |
15: 54,946,820 (GRCm39) |
R302* |
probably null |
Het |
| Elk3 |
T |
C |
10: 93,120,689 (GRCm39) |
N50S |
probably damaging |
Het |
| Fmo3 |
A |
T |
1: 162,794,527 (GRCm39) |
I181K |
probably benign |
Het |
| Golga3 |
T |
C |
5: 110,349,734 (GRCm39) |
I655T |
probably damaging |
Het |
| Hspa1l |
A |
T |
17: 35,196,164 (GRCm39) |
T68S |
probably benign |
Het |
| Itgax |
C |
T |
7: 127,741,505 (GRCm39) |
R839W |
probably damaging |
Het |
| Itk |
A |
G |
11: 46,229,044 (GRCm39) |
F379L |
probably damaging |
Het |
| Kif7 |
C |
A |
7: 79,348,441 (GRCm39) |
R1300L |
probably benign |
Het |
| Klkb1 |
A |
T |
8: 45,742,149 (GRCm39) |
D43E |
possibly damaging |
Het |
| Kmt5b |
C |
T |
19: 3,857,266 (GRCm39) |
A318V |
probably benign |
Het |
| Krt78 |
T |
C |
15: 101,855,069 (GRCm39) |
Y914C |
probably benign |
Het |
| Lactb2 |
T |
C |
1: 13,730,563 (GRCm39) |
T38A |
possibly damaging |
Het |
| Lmbr1l |
A |
C |
15: 98,805,418 (GRCm39) |
F361C |
possibly damaging |
Het |
| Magi1 |
T |
C |
6: 93,722,891 (GRCm39) |
D329G |
probably damaging |
Het |
| Map3k5 |
T |
A |
10: 19,986,603 (GRCm39) |
V939E |
probably benign |
Het |
| Mcm8 |
C |
T |
2: 132,666,658 (GRCm39) |
A233V |
probably benign |
Het |
| Mcur1 |
C |
T |
13: 43,703,013 (GRCm39) |
V241M |
possibly damaging |
Het |
| Mical2 |
G |
T |
7: 111,919,941 (GRCm39) |
|
probably null |
Het |
| Nudt13 |
A |
G |
14: 20,361,581 (GRCm39) |
E219G |
probably damaging |
Het |
| Or4c107 |
A |
G |
2: 88,789,380 (GRCm39) |
N190S |
probably benign |
Het |
| Or52d3 |
A |
T |
7: 104,229,141 (GRCm39) |
H96L |
probably benign |
Het |
| Or6b1 |
A |
G |
6: 42,814,983 (GRCm39) |
H56R |
probably benign |
Het |
| Osbpl7 |
A |
C |
11: 96,950,004 (GRCm39) |
D395A |
probably benign |
Het |
| Osbpl9 |
A |
G |
4: 108,923,415 (GRCm39) |
C495R |
probably damaging |
Het |
| Pcdhac1 |
T |
C |
18: 37,224,381 (GRCm39) |
L398P |
probably benign |
Het |
| Pcnx4 |
T |
A |
12: 72,603,037 (GRCm39) |
F433Y |
probably damaging |
Het |
| Pdp1 |
G |
A |
4: 11,961,838 (GRCm39) |
P158S |
probably damaging |
Het |
| Pkd1l3 |
A |
C |
8: 110,397,353 (GRCm39) |
*2152C |
probably null |
Het |
| Plcxd3 |
G |
T |
15: 4,604,245 (GRCm39) |
K284N |
probably benign |
Het |
| Plxnb2 |
A |
G |
15: 89,045,272 (GRCm39) |
V1058A |
possibly damaging |
Het |
| Ptbp1 |
T |
C |
10: 79,695,511 (GRCm39) |
Y187H |
probably damaging |
Het |
| Resp18 |
T |
C |
1: 75,248,955 (GRCm39) |
*176W |
probably null |
Het |
| Rps6ka2 |
A |
C |
17: 7,566,738 (GRCm39) |
Q665H |
possibly damaging |
Het |
| Rtn1 |
T |
C |
12: 72,351,052 (GRCm39) |
T386A |
probably benign |
Het |
| Samt2 |
A |
T |
X: 153,358,223 (GRCm39) |
|
probably null |
Het |
| Scn1a |
T |
C |
2: 66,104,187 (GRCm39) |
N1663S |
probably damaging |
Het |
| Smyd1 |
A |
T |
6: 71,216,537 (GRCm39) |
I70N |
probably damaging |
Het |
| Tas2r105 |
T |
C |
6: 131,664,410 (GRCm39) |
E6G |
probably damaging |
Het |
| Tchh |
G |
T |
3: 93,352,936 (GRCm39) |
R792L |
unknown |
Het |
| Tenm3 |
C |
T |
8: 48,729,693 (GRCm39) |
D1438N |
possibly damaging |
Het |
| Tmem184b |
A |
G |
15: 79,250,143 (GRCm39) |
Y211H |
possibly damaging |
Het |
| Vmn1r168 |
A |
T |
7: 23,240,824 (GRCm39) |
N227I |
probably benign |
Het |
| Vmn1r203 |
T |
A |
13: 22,709,004 (GRCm39) |
S262T |
possibly damaging |
Het |
| Vmn1r204 |
T |
G |
13: 22,740,420 (GRCm39) |
L17R |
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 |
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TACAGACACCAGCATAGGGG -3'
(R):5'- TTTCTAGGTACTGATGCAACTCATG -3'
Sequencing Primer
(F):5'- GAGCAGGGTCTGGCACTCAC -3'
(R):5'- TGAGACCATCAAAGCCCGGATG -3'
|
| Posted On |
2014-11-12 |
Incidental Mutation