Incidental Mutation 'R9774:Top3a'
| ID |
733595 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Top3a
|
| Ensembl Gene |
ENSMUSG00000002814 |
| Gene Name |
topoisomerase (DNA) III alpha |
| Synonyms |
Top IIIa |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R9774 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
60630884-60668191 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 60638998 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Leucine
at position 551
(V551L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000002891
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000002891]
[ENSMUST00000102668]
[ENSMUST00000117743]
[ENSMUST00000120417]
|
| AlphaFold |
O70157 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000002891
AA Change: V551L
PolyPhen 2
Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000002891
Gene: ENSMUSG00000002814
AA Change: V551L
| 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: V551L
PolyPhen 2
Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000099729
Gene: ENSMUSG00000002814
AA Change: V551L
| 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: V526L
PolyPhen 2
Score 0.942 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000113057
Gene: ENSMUSG00000002814
AA Change: V526L
| 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: V526L
PolyPhen 2
Score 0.960 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000113653
Gene: ENSMUSG00000002814
AA Change: V526L
| 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 |
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.8%
- 10x: 99.3%
- 20x: 98.3%
|
| 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: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2200002J24Rik |
A |
C |
7: 30,399,261 (GRCm39) |
Q18H |
possibly damaging |
Het |
| Adam23 |
C |
T |
1: 63,585,583 (GRCm39) |
T390I |
probably benign |
Het |
| Adh7 |
T |
A |
3: 137,929,847 (GRCm39) |
C174* |
probably null |
Het |
| Brip1 |
A |
G |
11: 86,077,838 (GRCm39) |
S197P |
possibly damaging |
Het |
| Ccdc146 |
G |
T |
5: 21,506,247 (GRCm39) |
D731E |
probably benign |
Het |
| Cfi |
T |
C |
3: 129,668,645 (GRCm39) |
V557A |
probably damaging |
Het |
| Col4a4 |
A |
T |
1: 82,484,665 (GRCm39) |
|
probably null |
Het |
| Csnka2ip |
T |
C |
16: 64,299,093 (GRCm39) |
I424V |
unknown |
Het |
| Cubn |
C |
T |
2: 13,433,530 (GRCm39) |
V1127I |
probably benign |
Het |
| Ehhadh |
T |
C |
16: 21,581,976 (GRCm39) |
T339A |
probably benign |
Het |
| Ezh2 |
T |
A |
6: 47,519,315 (GRCm39) |
I506L |
probably benign |
Het |
| Fbxw21 |
T |
C |
9: 108,991,057 (GRCm39) |
M1V |
probably null |
Het |
| Herc1 |
T |
A |
9: 66,372,032 (GRCm39) |
V567E |
probably null |
Het |
| Hrh1 |
A |
T |
6: 114,457,241 (GRCm39) |
E174V |
probably benign |
Het |
| Il12rb1 |
A |
G |
8: 71,272,040 (GRCm39) |
S585G |
possibly damaging |
Het |
| Kcnq4 |
C |
A |
4: 120,573,076 (GRCm39) |
A242S |
probably damaging |
Het |
| Ltbp3 |
A |
G |
19: 5,804,014 (GRCm39) |
N842S |
probably benign |
Het |
| Mbd1 |
A |
G |
18: 74,408,274 (GRCm39) |
Q309R |
probably benign |
Het |
| Mcm5 |
C |
T |
8: 75,844,168 (GRCm39) |
S313F |
probably benign |
Het |
| Mroh2b |
T |
C |
15: 4,943,613 (GRCm39) |
I383T |
probably benign |
Het |
| Mrto4 |
T |
C |
4: 139,075,287 (GRCm39) |
D172G |
probably benign |
Het |
| Muc2 |
T |
G |
7: 141,285,811 (GRCm39) |
S19A |
probably benign |
Het |
| Ndufb2 |
T |
C |
6: 39,575,301 (GRCm39) |
|
probably null |
Het |
| Npas3 |
A |
T |
12: 53,994,108 (GRCm39) |
T246S |
probably damaging |
Het |
| Or8u8 |
C |
T |
2: 86,012,015 (GRCm39) |
V147M |
possibly damaging |
Het |
| Pappa2 |
T |
A |
1: 158,675,920 (GRCm39) |
N942I |
probably damaging |
Het |
| Pdzph1 |
A |
G |
17: 59,281,751 (GRCm39) |
V177A |
probably benign |
Het |
| Rab5b |
A |
G |
10: 128,522,658 (GRCm39) |
V41A |
probably benign |
Het |
| Rnf111 |
T |
C |
9: 70,334,303 (GRCm39) |
D980G |
probably damaging |
Het |
| Rreb1 |
A |
G |
13: 38,114,185 (GRCm39) |
T515A |
probably benign |
Het |
| Rsf1 |
GCGGC |
GCGGCGGCGTCGGC |
7: 97,229,138 (GRCm39) |
|
probably benign |
Het |
| Serpinb13 |
T |
A |
1: 106,923,579 (GRCm39) |
F95I |
probably benign |
Het |
| Sgsm3 |
C |
T |
15: 80,890,673 (GRCm39) |
R76C |
possibly damaging |
Het |
| Slc1a1 |
C |
T |
19: 28,870,283 (GRCm39) |
A94V |
probably damaging |
Het |
| Slc22a6 |
T |
C |
19: 8,603,134 (GRCm39) |
V494A |
probably benign |
Het |
| Spag9 |
A |
G |
11: 94,005,062 (GRCm39) |
E1182G |
probably damaging |
Het |
| Spata13 |
T |
C |
14: 60,944,196 (GRCm39) |
S530P |
probably benign |
Het |
| Spatc1l |
A |
G |
10: 76,405,168 (GRCm39) |
|
probably null |
Het |
| Spg11 |
A |
G |
2: 121,938,965 (GRCm39) |
S330P |
probably damaging |
Het |
| Stau2 |
A |
T |
1: 16,445,010 (GRCm39) |
M306K |
probably damaging |
Het |
| Tcea2 |
C |
T |
2: 181,328,664 (GRCm39) |
T239I |
probably damaging |
Het |
| Tlcd2 |
A |
G |
11: 75,359,131 (GRCm39) |
D34G |
probably damaging |
Het |
| Tmem132a |
C |
T |
19: 10,842,904 (GRCm39) |
W190* |
probably null |
Het |
| Trpm1 |
G |
A |
7: 63,898,041 (GRCm39) |
E1225K |
possibly damaging |
Het |
| Tti2 |
A |
G |
8: 31,645,660 (GRCm39) |
H350R |
probably damaging |
Het |
| Ttn |
C |
T |
2: 76,715,357 (GRCm39) |
E7912K |
unknown |
Het |
| Tyw3 |
T |
C |
3: 154,302,584 (GRCm39) |
D27G |
probably damaging |
Het |
| Usp36 |
G |
A |
11: 118,153,875 (GRCm39) |
A1012V |
probably damaging |
Het |
| Vmn2r14 |
G |
A |
5: 109,369,126 (GRCm39) |
T149I |
probably benign |
Het |
| Vps13c |
T |
A |
9: 67,791,873 (GRCm39) |
S380T |
possibly 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 |
|
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 |
|
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'- AGGTCAGGCTTGGACATCTC -3'
(R):5'- TGCTGTATCACCTCAGAATAATGGG -3'
Sequencing Primer
(F):5'- GGTCAGGCTTGGACATCTCATAAC -3'
(R):5'- ACACCTGCAATTCCAGTAGTTG -3'
|
| Posted On |
2022-11-14 |
Incidental Mutation