Incidental Mutation 'R8122:Top2a'
| ID |
631561 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Top2a
|
| Ensembl Gene |
ENSMUSG00000020914 |
| Gene Name |
topoisomerase (DNA) II alpha |
| Synonyms |
DNA Topoisomerase II alpha, Top-2 |
| MMRRC Submission |
067551-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.971)
|
| Stock # |
R8122 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
98883769-98915015 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 98889993 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Valine
at position 1237
(I1237V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000068896
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000068031]
|
| AlphaFold |
Q01320 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000068031
AA Change: I1237V
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000068896
Gene: ENSMUSG00000020914
AA Change: I1237V
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
10 |
21 |
N/A |
INTRINSIC |
|
Blast:TOP2c
|
22 |
60 |
3e-12 |
BLAST |
|
HATPase_c
|
75 |
224 |
1.81e-2 |
SMART |
|
TOP2c
|
79 |
669 |
N/A |
SMART |
|
TOP4c
|
692 |
1166 |
3.58e-234 |
SMART |
|
low complexity region
|
1192 |
1202 |
N/A |
INTRINSIC |
|
low complexity region
|
1226 |
1238 |
N/A |
INTRINSIC |
|
low complexity region
|
1261 |
1273 |
N/A |
INTRINSIC |
|
low complexity region
|
1291 |
1306 |
N/A |
INTRINSIC |
|
low complexity region
|
1407 |
1418 |
N/A |
INTRINSIC |
|
Pfam:DTHCT
|
1425 |
1518 |
1.1e-18 |
PFAM |
|
| Meta Mutation Damage Score |
0.0590 |
| Coding Region Coverage |
- 1x: 99.8%
- 3x: 99.7%
- 10x: 99.0%
- 20x: 97.5%
|
| Validation Efficiency |
98% (47/48) |
| 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 nuclear enzyme is involved in processes such as chromosome condensation, chromatid separation, and the relief of torsional stress that occurs during DNA transcription and replication. It catalyzes the transient breaking and rejoining of two strands of duplex DNA which allows the strands to pass through one another, thus altering the topology of DNA. Two forms of this enzyme exist as likely products of a gene duplication event. The gene encoding this form, alpha, is localized to chromosome 17 and the beta gene is localized to chromosome 3. The gene encoding this enzyme functions as the target for several anticancer agents and a variety of mutations in this gene have been associated with the development of drug resistance. Reduced activity of this enzyme may also play a role in ataxia-telangiectasia. [provided by RefSeq, Jul 2010]
|
| Allele List at MGI |
All alleles(47) : Targeted(1) Gene trapped(46)
|
| Other mutations in this stock |
Total: 47 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abat |
A |
G |
16: 8,433,761 (GRCm39) |
Y426C |
probably damaging |
Het |
| Acsbg3 |
T |
A |
17: 57,193,670 (GRCm39) |
V672E |
possibly damaging |
Het |
| Adgrv1 |
A |
G |
13: 81,419,037 (GRCm39) |
V5986A |
probably damaging |
Het |
| Adgrv1 |
A |
T |
13: 81,588,344 (GRCm39) |
V4414E |
possibly damaging |
Het |
| Ahnak2 |
T |
C |
12: 112,742,510 (GRCm39) |
S521G |
possibly damaging |
Het |
| Amer2 |
A |
T |
14: 60,616,791 (GRCm39) |
M329L |
possibly damaging |
Het |
| Arhgap20 |
A |
G |
9: 51,761,293 (GRCm39) |
N1048S |
probably damaging |
Het |
| Asah1 |
T |
C |
8: 41,796,767 (GRCm39) |
E305G |
probably benign |
Het |
| AW551984 |
T |
A |
9: 39,510,665 (GRCm39) |
K223N |
probably damaging |
Het |
| Bptf |
C |
A |
11: 106,927,417 (GRCm39) |
|
probably null |
Het |
| C1qtnf6 |
T |
C |
15: 78,411,446 (GRCm39) |
N77D |
probably benign |
Het |
| Capn13 |
T |
A |
17: 73,674,205 (GRCm39) |
I83F |
probably damaging |
Het |
| Cd6 |
A |
G |
19: 10,770,231 (GRCm39) |
F487L |
probably damaging |
Het |
| Cit |
T |
C |
5: 116,107,069 (GRCm39) |
V1067A |
probably damaging |
Het |
| Cspg4b |
A |
T |
13: 113,455,442 (GRCm39) |
D496V |
|
Het |
| Csrnp1 |
T |
C |
9: 119,802,273 (GRCm39) |
D262G |
probably damaging |
Het |
| Cyp2d11 |
T |
A |
15: 82,276,744 (GRCm39) |
Q65L |
probably benign |
Het |
| Dbt |
T |
A |
3: 116,313,891 (GRCm39) |
C19* |
probably null |
Het |
| Dgkg |
A |
C |
16: 22,385,295 (GRCm39) |
|
probably null |
Het |
| Eif4g2 |
T |
C |
7: 110,677,760 (GRCm39) |
I118V |
possibly damaging |
Het |
| Evl |
C |
T |
12: 108,647,783 (GRCm39) |
R295* |
probably null |
Het |
| Gpr158 |
A |
T |
2: 21,831,674 (GRCm39) |
M925L |
probably benign |
Het |
| Kcnn2 |
T |
G |
18: 45,810,005 (GRCm39) |
V414G |
probably damaging |
Het |
| Lama2 |
G |
A |
10: 26,930,592 (GRCm39) |
H2055Y |
possibly damaging |
Het |
| Loxl3 |
T |
A |
6: 83,026,240 (GRCm39) |
W443R |
probably damaging |
Het |
| Mab21l1 |
A |
T |
3: 55,690,905 (GRCm39) |
D164V |
probably benign |
Het |
| Mroh7 |
T |
C |
4: 106,559,726 (GRCm39) |
T734A |
probably damaging |
Het |
| Or2y1f |
C |
A |
11: 49,184,401 (GRCm39) |
N84K |
probably damaging |
Het |
| Or8g35 |
A |
G |
9: 39,381,822 (GRCm39) |
S67P |
probably damaging |
Het |
| Pkhd1 |
C |
T |
1: 20,632,682 (GRCm39) |
E578K |
probably damaging |
Het |
| Pld2 |
T |
A |
11: 70,432,259 (GRCm39) |
L126* |
probably null |
Het |
| Polk |
A |
T |
13: 96,620,291 (GRCm39) |
N716K |
probably benign |
Het |
| Ppl |
C |
T |
16: 4,906,725 (GRCm39) |
R1190H |
probably damaging |
Het |
| Prom1 |
T |
C |
5: 44,170,295 (GRCm39) |
K669E |
probably benign |
Het |
| Sag |
A |
G |
1: 87,762,289 (GRCm39) |
D318G |
probably damaging |
Het |
| Scfd1 |
T |
A |
12: 51,480,052 (GRCm39) |
V528E |
possibly damaging |
Het |
| Scn4a |
A |
G |
11: 106,221,157 (GRCm39) |
L834P |
probably benign |
Het |
| Shank1 |
G |
T |
7: 43,983,015 (GRCm39) |
G637V |
unknown |
Het |
| Slc12a6 |
A |
G |
2: 112,097,167 (GRCm39) |
M1V |
probably null |
Het |
| St6gal1 |
A |
G |
16: 23,173,644 (GRCm39) |
K242R |
probably benign |
Het |
| Syt3 |
A |
G |
7: 44,045,153 (GRCm39) |
Y495C |
probably damaging |
Het |
| Taar8c |
C |
T |
10: 23,977,107 (GRCm39) |
S235N |
probably benign |
Het |
| Tmem183a |
A |
T |
1: 134,282,503 (GRCm39) |
C201S |
probably benign |
Het |
| Trub1 |
G |
T |
19: 57,473,563 (GRCm39) |
V207L |
probably benign |
Het |
| Ttll13 |
T |
A |
7: 79,909,217 (GRCm39) |
I634N |
probably benign |
Het |
| Ube2j1 |
T |
G |
4: 33,045,145 (GRCm39) |
N208K |
probably benign |
Het |
| Wdr17 |
A |
G |
8: 55,118,011 (GRCm39) |
S569P |
probably damaging |
Het |
|
| Other mutations in Top2a |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00518:Top2a
|
APN |
11 |
98,909,647 (GRCm39) |
nonsense |
probably null |
|
|
IGL01285:Top2a
|
APN |
11 |
98,896,985 (GRCm39) |
splice site |
probably benign |
|
|
IGL01445:Top2a
|
APN |
11 |
98,901,856 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01451:Top2a
|
APN |
11 |
98,901,856 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01456:Top2a
|
APN |
11 |
98,901,856 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01458:Top2a
|
APN |
11 |
98,901,856 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01481:Top2a
|
APN |
11 |
98,901,856 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01485:Top2a
|
APN |
11 |
98,901,856 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01753:Top2a
|
APN |
11 |
98,898,100 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL03029:Top2a
|
APN |
11 |
98,909,625 (GRCm39) |
missense |
probably benign |
0.03 |
|
PIT4581001:Top2a
|
UTSW |
11 |
98,893,790 (GRCm39) |
missense |
probably damaging |
0.97 |
|
PIT4585001:Top2a
|
UTSW |
11 |
98,892,199 (GRCm39) |
missense |
probably benign |
0.02 |
|
R0008:Top2a
|
UTSW |
11 |
98,893,729 (GRCm39) |
nonsense |
probably null |
|
|
R0047:Top2a
|
UTSW |
11 |
98,888,682 (GRCm39) |
missense |
probably benign |
|
|
R0047:Top2a
|
UTSW |
11 |
98,888,682 (GRCm39) |
missense |
probably benign |
|
|
R0070:Top2a
|
UTSW |
11 |
98,905,886 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R0070:Top2a
|
UTSW |
11 |
98,905,886 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R0116:Top2a
|
UTSW |
11 |
98,894,416 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0245:Top2a
|
UTSW |
11 |
98,900,922 (GRCm39) |
missense |
probably benign |
0.37 |
|
R0276:Top2a
|
UTSW |
11 |
98,900,733 (GRCm39) |
splice site |
probably benign |
|
|
R0288:Top2a
|
UTSW |
11 |
98,907,249 (GRCm39) |
splice site |
probably benign |
|
|
R0335:Top2a
|
UTSW |
11 |
98,913,781 (GRCm39) |
missense |
probably benign |
0.08 |
|
R0422:Top2a
|
UTSW |
11 |
98,900,679 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0546:Top2a
|
UTSW |
11 |
98,890,052 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R0558:Top2a
|
UTSW |
11 |
98,887,665 (GRCm39) |
missense |
probably benign |
|
|
R0599:Top2a
|
UTSW |
11 |
98,892,243 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0727:Top2a
|
UTSW |
11 |
98,902,974 (GRCm39) |
nonsense |
probably null |
|
|
R1565:Top2a
|
UTSW |
11 |
98,891,880 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1674:Top2a
|
UTSW |
11 |
98,900,099 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R1844:Top2a
|
UTSW |
11 |
98,906,895 (GRCm39) |
missense |
probably benign |
0.06 |
|
R1959:Top2a
|
UTSW |
11 |
98,886,803 (GRCm39) |
splice site |
probably null |
|
|
R2124:Top2a
|
UTSW |
11 |
98,895,054 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2128:Top2a
|
UTSW |
11 |
98,900,633 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R3707:Top2a
|
UTSW |
11 |
98,887,651 (GRCm39) |
missense |
probably benign |
0.13 |
|
R4110:Top2a
|
UTSW |
11 |
98,913,786 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4112:Top2a
|
UTSW |
11 |
98,913,786 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4423:Top2a
|
UTSW |
11 |
98,892,231 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4425:Top2a
|
UTSW |
11 |
98,892,231 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4914:Top2a
|
UTSW |
11 |
98,893,786 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4939:Top2a
|
UTSW |
11 |
98,900,918 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4944:Top2a
|
UTSW |
11 |
98,888,676 (GRCm39) |
missense |
probably benign |
0.37 |
|
R4971:Top2a
|
UTSW |
11 |
98,884,667 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5362:Top2a
|
UTSW |
11 |
98,909,738 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5477:Top2a
|
UTSW |
11 |
98,907,306 (GRCm39) |
nonsense |
probably null |
|
|
R5499:Top2a
|
UTSW |
11 |
98,913,202 (GRCm39) |
missense |
probably benign |
0.20 |
|
R5911:Top2a
|
UTSW |
11 |
98,907,291 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R7126:Top2a
|
UTSW |
11 |
98,905,818 (GRCm39) |
missense |
probably benign |
0.09 |
|
R7131:Top2a
|
UTSW |
11 |
98,895,008 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R7174:Top2a
|
UTSW |
11 |
98,914,922 (GRCm39) |
start gained |
probably benign |
|
|
R7329:Top2a
|
UTSW |
11 |
98,895,072 (GRCm39) |
missense |
possibly damaging |
0.57 |
|
R7560:Top2a
|
UTSW |
11 |
98,891,663 (GRCm39) |
missense |
probably benign |
|
|
R7563:Top2a
|
UTSW |
11 |
98,907,005 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7740:Top2a
|
UTSW |
11 |
98,884,640 (GRCm39) |
missense |
probably benign |
0.34 |
|
R7841:Top2a
|
UTSW |
11 |
98,913,176 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7894:Top2a
|
UTSW |
11 |
98,900,431 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8260:Top2a
|
UTSW |
11 |
98,891,595 (GRCm39) |
missense |
probably null |
0.87 |
|
R8504:Top2a
|
UTSW |
11 |
98,905,567 (GRCm39) |
missense |
probably benign |
|
|
R8550:Top2a
|
UTSW |
11 |
98,886,744 (GRCm39) |
missense |
probably benign |
|
|
R8558:Top2a
|
UTSW |
11 |
98,912,549 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8693:Top2a
|
UTSW |
11 |
98,900,868 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8851:Top2a
|
UTSW |
11 |
98,900,677 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9143:Top2a
|
UTSW |
11 |
98,900,705 (GRCm39) |
missense |
probably benign |
0.14 |
|
R9240:Top2a
|
UTSW |
11 |
98,901,368 (GRCm39) |
nonsense |
probably null |
|
|
R9294:Top2a
|
UTSW |
11 |
98,891,904 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9301:Top2a
|
UTSW |
11 |
98,897,790 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9383:Top2a
|
UTSW |
11 |
98,901,884 (GRCm39) |
nonsense |
probably null |
|
|
R9450:Top2a
|
UTSW |
11 |
98,894,434 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R9515:Top2a
|
UTSW |
11 |
98,902,970 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9655:Top2a
|
UTSW |
11 |
98,905,334 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9683:Top2a
|
UTSW |
11 |
98,887,683 (GRCm39) |
missense |
probably benign |
0.21 |
|
R9689:Top2a
|
UTSW |
11 |
98,914,883 (GRCm39) |
missense |
probably benign |
0.01 |
|
U24488:Top2a
|
UTSW |
11 |
98,913,252 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0025:Top2a
|
UTSW |
11 |
98,886,767 (GRCm39) |
missense |
probably benign |
0.32 |
|
| Predicted Primers |
PCR Primer
(F):5'- CACAACCATCTGTAATGACCTG -3'
(R):5'- TCCCTTTCATAGGTTGTCGAGG -3'
Sequencing Primer
(F):5'- ACCATCTGTAATGACCTGATGCC -3'
(R):5'- TCATAGGTTGTCGAGGCCAAG -3'
|
| Posted On |
2020-06-30 |
Incidental Mutation