Incidental Mutation 'R6767:Top3a'
| ID |
531994 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Top3a
|
| Ensembl Gene |
ENSMUSG00000002814 |
| Gene Name |
topoisomerase (DNA) III alpha |
| Synonyms |
Top IIIa |
| MMRRC Submission |
044883-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R6767 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
60630884-60668191 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 60641579 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Lysine
at position 368
(N368K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000099729
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000002891]
[ENSMUST00000102668]
[ENSMUST00000117743]
[ENSMUST00000120417]
|
| AlphaFold |
O70157 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000002891
AA Change: N368K
PolyPhen 2
Score 0.842 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000002891
Gene: ENSMUSG00000002814
AA Change: N368K
| 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: N368K
PolyPhen 2
Score 0.842 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000099729
Gene: ENSMUSG00000002814
AA Change: N368K
| 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: N343K
PolyPhen 2
Score 0.824 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000113057
Gene: ENSMUSG00000002814
AA Change: N343K
| 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: N343K
PolyPhen 2
Score 0.267 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000113653
Gene: ENSMUSG00000002814
AA Change: N343K
| 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 |
0.6194 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.6%
- 20x: 95.9%
|
| Validation Efficiency |
100% (67/67) |
| 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: 67 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam34l |
G |
A |
8: 44,079,951 (GRCm39) |
T91I |
probably damaging |
Het |
| Ak7 |
A |
G |
12: 105,732,866 (GRCm39) |
N537D |
probably damaging |
Het |
| Akt3 |
A |
T |
1: 176,877,756 (GRCm39) |
Y337* |
probably null |
Het |
| Atp8a2 |
A |
G |
14: 60,284,171 (GRCm39) |
F47S |
probably damaging |
Het |
| Cadps |
T |
A |
14: 12,550,888 (GRCm38) |
T449S |
probably damaging |
Het |
| Ccdc33 |
C |
G |
9: 57,940,527 (GRCm39) |
Q489H |
possibly damaging |
Het |
| Cd163 |
T |
G |
6: 124,281,738 (GRCm39) |
S14A |
possibly damaging |
Het |
| Cemip |
G |
A |
7: 83,647,832 (GRCm39) |
L83F |
probably damaging |
Het |
| Chrd |
C |
T |
16: 20,557,376 (GRCm39) |
P665L |
probably benign |
Het |
| Cib4 |
T |
A |
5: 30,691,589 (GRCm39) |
H44L |
probably benign |
Het |
| Clic1 |
T |
A |
17: 35,272,029 (GRCm39) |
L99Q |
probably benign |
Het |
| Cnst |
C |
T |
1: 179,437,519 (GRCm39) |
T361I |
possibly damaging |
Het |
| Dnah6 |
C |
A |
6: 73,110,591 (GRCm39) |
V1613L |
probably benign |
Het |
| Dnajb8 |
T |
C |
6: 88,199,634 (GRCm39) |
S57P |
probably damaging |
Het |
| Dyrk3 |
T |
C |
1: 131,057,327 (GRCm39) |
H282R |
probably damaging |
Het |
| Fasn |
T |
C |
11: 120,708,313 (GRCm39) |
I651V |
possibly damaging |
Het |
| Gas6 |
A |
G |
8: 13,515,784 (GRCm39) |
S663P |
probably damaging |
Het |
| Gbp8 |
T |
C |
5: 105,166,478 (GRCm39) |
M284V |
probably benign |
Het |
| Gm12695 |
T |
C |
4: 96,650,933 (GRCm39) |
|
probably null |
Het |
| Gm6034 |
T |
A |
17: 36,354,023 (GRCm39) |
M1K |
probably null |
Het |
| Gm9376 |
A |
G |
14: 118,504,648 (GRCm39) |
T27A |
unknown |
Het |
| Grid2 |
A |
G |
6: 63,907,999 (GRCm39) |
D213G |
probably benign |
Het |
| Gsdma3 |
A |
T |
11: 98,528,710 (GRCm39) |
D388V |
possibly damaging |
Het |
| H4c2 |
T |
A |
13: 23,941,005 (GRCm39) |
M1K |
probably null |
Het |
| Hdac9 |
T |
A |
12: 34,337,528 (GRCm39) |
H716L |
probably damaging |
Het |
| Hivep1 |
T |
C |
13: 42,308,203 (GRCm39) |
S148P |
probably damaging |
Het |
| Kctd1 |
T |
C |
18: 15,195,232 (GRCm39) |
T464A |
possibly damaging |
Het |
| Kera |
A |
G |
10: 97,445,034 (GRCm39) |
D131G |
possibly damaging |
Het |
| Kif2c |
C |
T |
4: 117,035,385 (GRCm39) |
R21Q |
probably benign |
Het |
| Luc7l3 |
G |
T |
11: 94,183,779 (GRCm39) |
D453E |
probably damaging |
Het |
| Mrpl9 |
A |
G |
3: 94,357,528 (GRCm39) |
|
probably benign |
Het |
| Mtss1 |
T |
C |
15: 58,825,430 (GRCm39) |
S257G |
probably benign |
Het |
| N4bp2 |
T |
C |
5: 65,974,530 (GRCm39) |
F1467L |
probably damaging |
Het |
| Naa25 |
T |
C |
5: 121,577,928 (GRCm39) |
V945A |
probably damaging |
Het |
| Nrg1 |
T |
C |
8: 32,407,923 (GRCm39) |
I103M |
probably damaging |
Het |
| Or2w1b |
C |
T |
13: 21,300,227 (GRCm39) |
R122C |
probably benign |
Het |
| Orm3 |
C |
T |
4: 63,274,531 (GRCm39) |
T32I |
probably damaging |
Het |
| Pi4ka |
A |
G |
16: 17,194,846 (GRCm39) |
L184P |
possibly damaging |
Het |
| Plch1 |
A |
T |
3: 63,662,765 (GRCm39) |
M246K |
probably damaging |
Het |
| Pld4 |
A |
C |
12: 112,730,549 (GRCm39) |
D144A |
possibly damaging |
Het |
| Prelp |
C |
A |
1: 133,840,448 (GRCm39) |
V345L |
probably benign |
Het |
| Rnf121 |
A |
G |
7: 101,672,619 (GRCm39) |
F238L |
probably damaging |
Het |
| Rnf40 |
A |
G |
7: 127,195,757 (GRCm39) |
K667R |
possibly damaging |
Het |
| Scgb1b12 |
A |
T |
7: 32,033,920 (GRCm39) |
N60I |
probably damaging |
Het |
| Serpina3n |
T |
G |
12: 104,375,321 (GRCm39) |
V131G |
probably benign |
Het |
| Slc22a21 |
T |
C |
11: 53,870,328 (GRCm39) |
Y119C |
probably damaging |
Het |
| Slc22a28 |
A |
G |
19: 8,094,409 (GRCm39) |
F204S |
probably damaging |
Het |
| Smc6 |
T |
A |
12: 11,321,821 (GRCm39) |
D29E |
possibly damaging |
Het |
| Smgc |
T |
A |
15: 91,725,601 (GRCm39) |
F40Y |
possibly damaging |
Het |
| Sorcs3 |
G |
T |
19: 48,702,010 (GRCm39) |
L630F |
probably damaging |
Het |
| Sphk1 |
A |
G |
11: 116,426,982 (GRCm39) |
K306E |
possibly damaging |
Het |
| Spmip2 |
A |
T |
3: 79,337,330 (GRCm39) |
D46V |
probably benign |
Het |
| Spsb1 |
C |
T |
4: 149,991,301 (GRCm39) |
G89D |
probably damaging |
Het |
| Stat4 |
G |
T |
1: 52,115,742 (GRCm39) |
M227I |
probably benign |
Het |
| Syngr4 |
A |
G |
7: 45,536,915 (GRCm39) |
V116A |
possibly damaging |
Het |
| Tacc1 |
T |
C |
8: 25,730,816 (GRCm39) |
M1V |
probably null |
Het |
| Tcf7l1 |
T |
G |
6: 72,608,275 (GRCm39) |
K355Q |
probably damaging |
Het |
| Tmem192 |
T |
C |
8: 65,416,888 (GRCm39) |
S36P |
probably damaging |
Het |
| Tpk1 |
T |
A |
6: 43,323,727 (GRCm39) |
I241F |
possibly damaging |
Het |
| Trappc10 |
A |
G |
10: 78,029,345 (GRCm39) |
I1064T |
possibly damaging |
Het |
| Vmn1r18 |
T |
A |
6: 57,367,206 (GRCm39) |
K116M |
probably damaging |
Het |
| Vmn2r40 |
A |
T |
7: 8,923,139 (GRCm39) |
H407Q |
unknown |
Het |
| Vmn2r91 |
T |
A |
17: 18,327,807 (GRCm39) |
L467H |
probably damaging |
Het |
| Wdr59 |
G |
T |
8: 112,202,733 (GRCm39) |
S603R |
probably damaging |
Het |
| Wwc2 |
A |
G |
8: 48,353,826 (GRCm39) |
Y103H |
possibly damaging |
Het |
| Zfp324 |
A |
C |
7: 12,704,527 (GRCm39) |
K74N |
probably null |
Het |
| Zfyve16 |
A |
G |
13: 92,644,707 (GRCm39) |
L1165P |
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 |
|
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'- AGGCCTCATTACCTGTCCTG -3'
(R):5'- CTAATGCTTCTGACCCCTTGAGG -3'
Sequencing Primer
(F):5'- GGGCTCACACTCAGAGGAAC -3'
(R):5'- TTGAGGGGGCCAATCTCCAAC -3'
|
| Posted On |
2018-08-29 |
Incidental Mutation