Incidental Mutation 'R1839:Top3a'
| ID |
205619 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Top3a
|
| Ensembl Gene |
ENSMUSG00000002814 |
| Gene Name |
topoisomerase (DNA) III alpha |
| Synonyms |
Top IIIa |
| MMRRC Submission |
045015-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R1839 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
60630884-60668191 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 60644714 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 305
(V305A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000113057
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000002891]
[ENSMUST00000102668]
[ENSMUST00000117743]
[ENSMUST00000120417]
|
| AlphaFold |
O70157 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000002891
AA Change: V330A
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000002891
Gene: ENSMUSG00000002814
AA Change: V330A
| 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: V330A
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000099729
Gene: ENSMUSG00000002814
AA Change: V330A
| 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 damaging
Transcript: ENSMUST00000117743
AA Change: V305A
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000113057
Gene: ENSMUSG00000002814
AA Change: V305A
| 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: V305A
PolyPhen 2
Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000113653
Gene: ENSMUSG00000002814
AA Change: V305A
| 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
|
| Meta Mutation Damage Score |
0.8455 |
| Coding Region Coverage |
- 1x: 97.4%
- 3x: 96.7%
- 10x: 94.7%
- 20x: 90.6%
|
| Validation Efficiency |
98% (90/92) |
| 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: 84 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700006A11Rik |
T |
C |
3: 124,203,369 (GRCm39) |
T403A |
probably damaging |
Het |
| Acat3 |
T |
A |
17: 13,147,493 (GRCm39) |
R175* |
probably null |
Het |
| Adam1b |
C |
A |
5: 121,639,104 (GRCm39) |
C647F |
probably damaging |
Het |
| Adam28 |
T |
C |
14: 68,876,659 (GRCm39) |
N197S |
possibly damaging |
Het |
| Adcy2 |
C |
T |
13: 68,837,380 (GRCm39) |
|
probably null |
Het |
| Adcy5 |
A |
T |
16: 35,069,310 (GRCm39) |
N426I |
probably damaging |
Het |
| Adgre1 |
T |
C |
17: 57,748,299 (GRCm39) |
S500P |
probably benign |
Het |
| Aloxe3 |
A |
G |
11: 69,020,911 (GRCm39) |
Y212C |
probably damaging |
Het |
| Ap3d1 |
A |
G |
10: 80,562,942 (GRCm39) |
S180P |
probably damaging |
Het |
| Arhgap20 |
C |
T |
9: 51,760,626 (GRCm39) |
R790W |
probably damaging |
Het |
| Atp8b4 |
C |
A |
2: 126,203,702 (GRCm39) |
A757S |
possibly damaging |
Het |
| Begain |
G |
A |
12: 109,001,249 (GRCm39) |
|
probably benign |
Het |
| Ccdc141 |
T |
C |
2: 76,842,009 (GRCm39) |
E1474G |
probably benign |
Het |
| Ccdc88b |
A |
G |
19: 6,831,477 (GRCm39) |
|
probably benign |
Het |
| Ccnk |
A |
G |
12: 108,161,333 (GRCm39) |
T195A |
probably damaging |
Het |
| Cd55b |
C |
A |
1: 130,341,842 (GRCm39) |
C265F |
probably damaging |
Het |
| Celsr3 |
A |
G |
9: 108,707,105 (GRCm39) |
H1196R |
probably benign |
Het |
| Cenpt |
T |
C |
8: 106,575,646 (GRCm39) |
S190G |
possibly damaging |
Het |
| Chd8 |
T |
C |
14: 52,442,340 (GRCm39) |
S2077G |
probably benign |
Het |
| Col6a5 |
G |
A |
9: 105,742,032 (GRCm39) |
H2296Y |
probably benign |
Het |
| Cxxc4 |
C |
A |
3: 133,946,414 (GRCm39) |
H332N |
probably damaging |
Het |
| Cyp24a1 |
T |
C |
2: 170,338,661 (GRCm39) |
I12V |
probably benign |
Het |
| Cyp3a57 |
T |
A |
5: 145,318,111 (GRCm39) |
L364Q |
probably damaging |
Het |
| Ddi2 |
T |
C |
4: 141,440,837 (GRCm39) |
I47V |
probably benign |
Het |
| Ddx5 |
A |
T |
11: 106,675,723 (GRCm39) |
D322E |
probably benign |
Het |
| Dhx40 |
A |
G |
11: 86,680,123 (GRCm39) |
C405R |
possibly damaging |
Het |
| Emc1 |
T |
C |
4: 139,087,796 (GRCm39) |
F100S |
probably damaging |
Het |
| Exoc2 |
T |
C |
13: 31,090,480 (GRCm39) |
|
probably benign |
Het |
| Gm10110 |
A |
T |
14: 90,135,272 (GRCm39) |
|
noncoding transcript |
Het |
| Gm17332 |
T |
C |
11: 31,132,386 (GRCm39) |
H26R |
possibly damaging |
Het |
| Gna12 |
T |
C |
5: 140,748,367 (GRCm39) |
N183S |
probably benign |
Het |
| Gpx6 |
A |
G |
13: 21,496,497 (GRCm39) |
N24D |
probably benign |
Het |
| Gsdma3 |
C |
T |
11: 98,520,684 (GRCm39) |
A105V |
probably benign |
Het |
| Hsd3b5 |
T |
C |
3: 98,527,044 (GRCm39) |
Y134C |
probably benign |
Het |
| Ifi213 |
T |
C |
1: 173,417,166 (GRCm39) |
I415M |
probably damaging |
Het |
| Ints9 |
C |
A |
14: 65,253,979 (GRCm39) |
P278T |
probably damaging |
Het |
| Krt79 |
C |
T |
15: 101,846,373 (GRCm39) |
E192K |
possibly damaging |
Het |
| Lrrk2 |
A |
G |
15: 91,567,337 (GRCm39) |
N132S |
probably benign |
Het |
| Ltn1 |
T |
A |
16: 87,213,152 (GRCm39) |
K470* |
probably null |
Het |
| Magi2 |
A |
T |
5: 20,670,825 (GRCm39) |
T163S |
probably damaging |
Het |
| Mcm9 |
A |
G |
10: 53,417,649 (GRCm39) |
M18T |
probably damaging |
Het |
| Med12l |
A |
G |
3: 58,975,740 (GRCm39) |
T212A |
probably benign |
Het |
| Mfhas1 |
T |
C |
8: 36,058,012 (GRCm39) |
L829P |
possibly damaging |
Het |
| Mgme1 |
T |
A |
2: 144,121,407 (GRCm39) |
C288S |
probably benign |
Het |
| Muc4 |
G |
C |
16: 32,753,919 (GRCm38) |
R1265P |
probably benign |
Het |
| Myh7 |
T |
C |
14: 55,210,637 (GRCm39) |
N1725S |
possibly damaging |
Het |
| Naa80 |
G |
A |
9: 107,460,216 (GRCm39) |
R37H |
possibly damaging |
Het |
| Nme4 |
A |
T |
17: 26,311,071 (GRCm39) |
W165R |
probably damaging |
Het |
| Nup205 |
T |
A |
6: 35,196,649 (GRCm39) |
D1128E |
probably benign |
Het |
| Or2t48 |
A |
T |
11: 58,420,199 (GRCm39) |
Y204* |
probably null |
Het |
| Or5ae2 |
T |
C |
7: 84,505,756 (GRCm39) |
Y60H |
probably damaging |
Het |
| Pcdh1 |
T |
C |
18: 38,332,538 (GRCm39) |
D155G |
possibly damaging |
Het |
| Pex12 |
A |
T |
11: 83,188,648 (GRCm39) |
S116T |
probably damaging |
Het |
| Plekhh1 |
C |
T |
12: 79,125,731 (GRCm39) |
|
probably benign |
Het |
| Plekhh3 |
A |
G |
11: 101,054,426 (GRCm39) |
|
probably benign |
Het |
| Pnpt1 |
T |
C |
11: 29,104,342 (GRCm39) |
M572T |
possibly damaging |
Het |
| Ppp1r12b |
T |
C |
1: 134,765,719 (GRCm39) |
R667G |
probably benign |
Het |
| Rbpms2 |
ACTGCTGCTGCTGCTGC |
ACTGCTGCTGCTGCTGCTGC |
9: 65,558,948 (GRCm39) |
|
probably benign |
Het |
| Rgs14 |
T |
C |
13: 55,530,651 (GRCm39) |
|
probably benign |
Het |
| Rhbdf2 |
A |
T |
11: 116,491,017 (GRCm39) |
V645E |
possibly damaging |
Het |
| Robo3 |
A |
G |
9: 37,333,623 (GRCm39) |
V696A |
probably benign |
Het |
| Sall1 |
A |
G |
8: 89,755,344 (GRCm39) |
F1212L |
possibly damaging |
Het |
| Sdc4 |
T |
C |
2: 164,270,932 (GRCm39) |
E109G |
probably benign |
Het |
| Serpind1 |
G |
T |
16: 17,160,856 (GRCm39) |
R462L |
probably damaging |
Het |
| Smad9 |
CTTT |
CTT |
3: 54,696,600 (GRCm39) |
|
probably benign |
Het |
| Sstr4 |
C |
A |
2: 148,237,453 (GRCm39) |
N21K |
probably benign |
Het |
| Tap1 |
C |
T |
17: 34,407,083 (GRCm39) |
A77V |
possibly damaging |
Het |
| Thap4 |
T |
C |
1: 93,678,009 (GRCm39) |
E259G |
probably benign |
Het |
| Thra |
A |
G |
11: 98,646,969 (GRCm39) |
N30S |
probably benign |
Het |
| Tmem207 |
A |
T |
16: 26,343,571 (GRCm39) |
V27E |
possibly damaging |
Het |
| Trim59 |
A |
T |
3: 68,944,971 (GRCm39) |
I123K |
probably damaging |
Het |
| Ttn |
T |
C |
2: 76,691,839 (GRCm39) |
|
probably benign |
Het |
| Ubac1 |
T |
A |
2: 25,897,750 (GRCm39) |
E290V |
possibly damaging |
Het |
| Unc13b |
T |
C |
4: 43,258,308 (GRCm39) |
|
probably benign |
Het |
| Uri1 |
A |
T |
7: 37,666,814 (GRCm39) |
D206E |
probably benign |
Het |
| Utp4 |
A |
G |
8: 107,640,086 (GRCm39) |
H465R |
probably benign |
Het |
| Uvssa |
T |
C |
5: 33,547,096 (GRCm39) |
S221P |
probably benign |
Het |
| Vmn1r39 |
T |
C |
6: 66,782,217 (GRCm39) |
|
probably null |
Het |
| Vps39 |
A |
T |
2: 120,155,878 (GRCm39) |
L514H |
probably damaging |
Het |
| Vps72 |
G |
A |
3: 95,026,529 (GRCm39) |
R158Q |
possibly damaging |
Het |
| Wdr59 |
T |
C |
8: 112,211,972 (GRCm39) |
D366G |
probably benign |
Het |
| Zfp366 |
C |
A |
13: 99,365,000 (GRCm39) |
Q54K |
probably damaging |
Het |
| Zfp523 |
T |
A |
17: 28,413,967 (GRCm39) |
I34N |
probably damaging |
Het |
| Zfp974 |
G |
A |
7: 27,609,781 (GRCm39) |
P648L |
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 |
|
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 |
|
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'- GCACAGAATGAGTGATGTTGC -3'
Sequencing Primer
(F):5'- GAATTTGCTCTGTCGACCAGGC -3'
(R):5'- CACAGAATGAGTGATGTTGCATGGG -3'
|
| Posted On |
2014-06-23 |
Incidental Mutation