Incidental Mutation 'R7442:Top3a'
| ID |
577037 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Top3a
|
| Ensembl Gene |
ENSMUSG00000002814 |
| Gene Name |
topoisomerase (DNA) III alpha |
| Synonyms |
Top IIIa |
| MMRRC Submission |
045518-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R7442 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
60630884-60668191 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 60644744 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Asparagine
at position 320
(S320N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000002891
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000002891]
[ENSMUST00000102668]
[ENSMUST00000117743]
[ENSMUST00000120417]
|
| AlphaFold |
O70157 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000002891
AA Change: S320N
PolyPhen 2
Score 0.659 (Sensitivity: 0.86; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000002891
Gene: ENSMUSG00000002814
AA Change: S320N
| 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: S320N
PolyPhen 2
Score 0.659 (Sensitivity: 0.86; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000099729
Gene: ENSMUSG00000002814
AA Change: S320N
| 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: S295N
PolyPhen 2
Score 0.411 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000113057
Gene: ENSMUSG00000002814
AA Change: S295N
| 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: S295N
PolyPhen 2
Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)
|
| SMART Domains |
Protein: ENSMUSP00000113653
Gene: ENSMUSG00000002814
AA Change: S295N
| 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 |
0.1197 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
100% (76/76) |
| 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: 75 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700011L22Rik |
A |
G |
8: 79,946,919 (GRCm39) |
I109T |
probably damaging |
Het |
| A430033K04Rik |
T |
C |
5: 138,645,509 (GRCm39) |
S465P |
possibly damaging |
Het |
| Acap3 |
T |
C |
4: 155,990,078 (GRCm39) |
F753L |
probably damaging |
Het |
| Adam9 |
A |
T |
8: 25,457,223 (GRCm39) |
V635E |
probably damaging |
Het |
| Adgre4 |
T |
A |
17: 56,159,340 (GRCm39) |
V675E |
probably benign |
Het |
| Anapc4 |
T |
C |
5: 53,014,543 (GRCm39) |
Y469H |
probably benign |
Het |
| Ankdd1b |
T |
G |
13: 96,561,268 (GRCm39) |
K325N |
possibly damaging |
Het |
| Aox1 |
T |
C |
1: 58,121,172 (GRCm39) |
V881A |
probably damaging |
Het |
| Arhgap5 |
A |
G |
12: 52,563,739 (GRCm39) |
T237A |
probably benign |
Het |
| Asah1 |
T |
C |
8: 41,796,602 (GRCm39) |
D331G |
possibly damaging |
Het |
| Atp5f1a |
G |
A |
18: 77,866,820 (GRCm39) |
R231H |
probably benign |
Het |
| Bod1l |
G |
A |
5: 41,964,522 (GRCm39) |
P2694L |
probably damaging |
Het |
| Bst1 |
T |
C |
5: 43,979,084 (GRCm39) |
S143P |
probably benign |
Het |
| Cacna1b |
A |
C |
2: 24,497,513 (GRCm39) |
S2132A |
probably benign |
Het |
| Caps2 |
G |
T |
10: 112,044,259 (GRCm39) |
R486L |
probably damaging |
Het |
| Ccdc168 |
A |
G |
1: 44,097,868 (GRCm39) |
S1077P |
possibly damaging |
Het |
| Cd68 |
T |
C |
11: 69,556,754 (GRCm39) |
T18A |
probably benign |
Het |
| Cdk8 |
T |
C |
5: 146,229,579 (GRCm39) |
|
probably null |
Het |
| Col18a1 |
A |
T |
10: 76,932,072 (GRCm39) |
I127N |
unknown |
Het |
| Dsc3 |
T |
C |
18: 20,114,213 (GRCm39) |
D347G |
probably damaging |
Het |
| Dyrk2 |
T |
C |
10: 118,695,786 (GRCm39) |
S491G |
probably damaging |
Het |
| Edem1 |
T |
A |
6: 108,828,266 (GRCm39) |
Y530* |
probably null |
Het |
| Enc1 |
A |
T |
13: 97,383,248 (GRCm39) |
H586L |
probably benign |
Het |
| Ephb6 |
T |
G |
6: 41,594,981 (GRCm39) |
|
probably null |
Het |
| Etv5 |
G |
T |
16: 22,254,809 (GRCm39) |
Q48K |
probably damaging |
Het |
| Exoc3l |
A |
G |
8: 106,019,558 (GRCm39) |
W404R |
probably damaging |
Het |
| Fbn1 |
C |
A |
2: 125,245,132 (GRCm39) |
A252S |
possibly damaging |
Het |
| Foxe3 |
A |
G |
4: 114,782,490 (GRCm39) |
S241P |
unknown |
Het |
| Gm49380 |
T |
A |
9: 44,023,709 (GRCm39) |
M180L |
probably benign |
Het |
| Hoxd1 |
A |
T |
2: 74,593,903 (GRCm39) |
D153V |
probably damaging |
Het |
| Ifi207 |
C |
T |
1: 173,554,997 (GRCm39) |
S895N |
probably benign |
Het |
| Igf1r |
G |
A |
7: 67,823,026 (GRCm39) |
V385M |
probably damaging |
Het |
| Ints9 |
C |
T |
14: 65,232,513 (GRCm39) |
Q191* |
probably null |
Het |
| Ktn1 |
A |
G |
14: 47,952,097 (GRCm39) |
E979G |
probably benign |
Het |
| Lama3 |
G |
A |
18: 12,605,238 (GRCm39) |
|
probably null |
Het |
| Lrtm2 |
C |
T |
6: 119,294,392 (GRCm39) |
M246I |
probably damaging |
Het |
| Mdm1 |
T |
C |
10: 117,982,590 (GRCm39) |
V75A |
probably benign |
Het |
| Mia3 |
T |
C |
1: 183,140,220 (GRCm39) |
E165G |
probably benign |
Het |
| Mrps21 |
T |
C |
3: 95,770,128 (GRCm39) |
E67G |
probably damaging |
Het |
| Mybpc1 |
A |
C |
10: 88,362,155 (GRCm39) |
I995S |
probably damaging |
Het |
| Mylk2 |
T |
G |
2: 152,753,346 (GRCm39) |
|
probably benign |
Het |
| Myo16 |
G |
A |
8: 10,322,537 (GRCm39) |
C11Y |
probably damaging |
Het |
| Nudt18 |
A |
C |
14: 70,816,798 (GRCm39) |
D134A |
probably benign |
Het |
| Obox1 |
G |
T |
7: 15,289,491 (GRCm39) |
K93N |
probably benign |
Het |
| Or12d2 |
T |
A |
17: 37,624,816 (GRCm39) |
H153L |
possibly damaging |
Het |
| Or2r3 |
A |
T |
6: 42,448,434 (GRCm39) |
M226K |
probably benign |
Het |
| Or56a4 |
T |
C |
7: 104,806,289 (GRCm39) |
Y200C |
probably damaging |
Het |
| Or5ar1 |
A |
T |
2: 85,672,096 (GRCm39) |
V13D |
probably benign |
Het |
| Pkd2l1 |
T |
C |
19: 44,145,668 (GRCm39) |
H185R |
probably benign |
Het |
| Ptpn18 |
A |
G |
1: 34,501,831 (GRCm39) |
T48A |
probably benign |
Het |
| Ptprd |
A |
T |
4: 75,978,058 (GRCm39) |
Y583* |
probably null |
Het |
| Ptprk |
G |
A |
10: 28,450,815 (GRCm39) |
G992D |
probably damaging |
Het |
| Setdb2 |
A |
G |
14: 59,656,700 (GRCm39) |
F206L |
probably damaging |
Het |
| Slain1 |
A |
G |
14: 103,923,150 (GRCm39) |
D247G |
probably damaging |
Het |
| Slc10a2 |
A |
T |
8: 5,139,086 (GRCm39) |
V286E |
possibly damaging |
Het |
| Slc44a2 |
C |
T |
9: 21,256,819 (GRCm39) |
T367I |
probably damaging |
Het |
| Slco4a1 |
T |
C |
2: 180,115,919 (GRCm39) |
V685A |
probably benign |
Het |
| Srp54c |
T |
A |
12: 55,302,347 (GRCm39) |
Y333N |
probably damaging |
Het |
| Srrm2 |
T |
C |
17: 24,039,091 (GRCm39) |
S1912P |
unknown |
Het |
| St7l |
A |
G |
3: 104,796,645 (GRCm39) |
T253A |
possibly damaging |
Het |
| Styxl2 |
T |
C |
1: 165,928,584 (GRCm39) |
K343E |
probably benign |
Het |
| Sun3 |
T |
G |
11: 8,981,445 (GRCm39) |
Y53S |
possibly damaging |
Het |
| Tktl2 |
A |
G |
8: 66,965,561 (GRCm39) |
N373S |
possibly damaging |
Het |
| Tmco3 |
T |
A |
8: 13,370,781 (GRCm39) |
S648R |
probably damaging |
Het |
| Tmem178 |
T |
A |
17: 81,252,185 (GRCm39) |
V23D |
probably damaging |
Het |
| Tmem229a |
C |
A |
6: 24,955,689 (GRCm39) |
G22W |
probably damaging |
Het |
| Treml1 |
C |
A |
17: 48,673,719 (GRCm39) |
D243E |
probably damaging |
Het |
| Trim42 |
C |
T |
9: 97,244,998 (GRCm39) |
V601M |
probably damaging |
Het |
| Ttn |
A |
G |
2: 76,573,350 (GRCm39) |
S25848P |
probably damaging |
Het |
| Vmn1r86 |
A |
T |
7: 12,835,983 (GRCm39) |
F298I |
possibly damaging |
Het |
| Vmn2r96 |
T |
C |
17: 18,793,662 (GRCm39) |
F2S |
probably benign |
Het |
| Xpc |
A |
G |
6: 91,481,631 (GRCm39) |
L230P |
probably damaging |
Het |
| Xpo4 |
A |
G |
14: 57,867,680 (GRCm39) |
V189A |
probably benign |
Het |
| Zfhx3 |
A |
G |
8: 109,519,468 (GRCm39) |
T197A |
probably damaging |
Het |
| Zswim1 |
A |
G |
2: 164,667,710 (GRCm39) |
K321E |
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 |
|
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 |
|
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'- TTAAGAGGCTGGGATAACGC -3'
(R):5'- CGGCATCCACTCTGTAATCC -3'
Sequencing Primer
(F):5'- GAATTTGCTCTGTCGACCAGGC -3'
(R):5'- TCTGTAATCCACGCACAGAATGAG -3'
|
| Posted On |
2019-10-07 |
Incidental Mutation