Incidental Mutation 'R5806:Top3a'
| ID |
448525 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Top3a
|
| Ensembl Gene |
ENSMUSG00000002814 |
| Gene Name |
topoisomerase (DNA) III alpha |
| Synonyms |
Top IIIa |
| MMRRC Submission |
043392-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R5806 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
60630884-60668191 bp(-) (GRCm39) |
| Type of Mutation |
critical splice donor site (2 bp from exon) |
| DNA Base Change (assembly) |
A to G
at 60667746 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000115727
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000002891]
[ENSMUST00000056907]
[ENSMUST00000102667]
[ENSMUST00000102668]
[ENSMUST00000117743]
[ENSMUST00000120417]
[ENSMUST00000130068]
|
| AlphaFold |
O70157 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000002891
|
| SMART Domains |
Protein: ENSMUSP00000002891
Gene: ENSMUSG00000002814
| 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 benign
Transcript: ENSMUST00000056907
|
| SMART Domains |
Protein: ENSMUSP00000055926
Gene: ENSMUSG00000049323
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
13 |
30 |
N/A |
INTRINSIC |
|
Pfam:Folliculin
|
78 |
262 |
5e-12 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000102667
|
| SMART Domains |
Protein: ENSMUSP00000099728
Gene: ENSMUSG00000049323
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
13 |
30 |
N/A |
INTRINSIC |
|
Pfam:Folliculin
|
87 |
255 |
8e-10 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000102668
|
| SMART Domains |
Protein: ENSMUSP00000099729
Gene: ENSMUSG00000002814
| 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 null
Transcript: ENSMUST00000117743
|
| SMART Domains |
Protein: ENSMUSP00000113057
Gene: ENSMUSG00000002814
| 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 null
Transcript: ENSMUST00000120417
|
| SMART Domains |
Protein: ENSMUSP00000113653
Gene: ENSMUSG00000002814
| 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 |
probably null
Transcript: ENSMUST00000130068
|
| SMART Domains |
Protein: ENSMUSP00000115727
Gene: ENSMUSG00000002814
| Domain | Start | End | E-Value | Type |
|---|
|
PDB:4CGY|A
|
1 |
85 |
2e-48 |
PDB |
|
SCOP:d1gkub3
|
5 |
85 |
7e-12 |
SMART |
|
Blast:TOPRIM
|
10 |
85 |
7e-50 |
BLAST |
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.3%
- 20x: 95.5%
|
| 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: 75 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A930011G23Rik |
A |
G |
5: 99,388,731 (GRCm39) |
M216T |
probably benign |
Het |
| Abhd4 |
A |
G |
14: 54,499,147 (GRCm39) |
N36D |
probably benign |
Het |
| Ankra2 |
T |
C |
13: 98,405,005 (GRCm39) |
|
probably null |
Het |
| Btd |
A |
G |
14: 31,389,469 (GRCm39) |
T397A |
probably benign |
Het |
| Ccbe1 |
T |
A |
18: 66,209,426 (GRCm39) |
K205* |
probably null |
Het |
| Clspn |
A |
G |
4: 126,479,899 (GRCm39) |
K1081E |
probably damaging |
Het |
| Cmya5 |
A |
G |
13: 93,230,445 (GRCm39) |
S1548P |
possibly damaging |
Het |
| Coq8b |
T |
A |
7: 26,950,050 (GRCm39) |
Y376* |
probably null |
Het |
| Cpxm1 |
C |
A |
2: 130,239,393 (GRCm39) |
A12S |
probably damaging |
Het |
| Cttn |
T |
C |
7: 144,015,005 (GRCm39) |
T68A |
probably damaging |
Het |
| Cyp2a12 |
T |
A |
7: 26,728,504 (GRCm39) |
|
probably null |
Het |
| Ddx46 |
A |
G |
13: 55,811,150 (GRCm39) |
Q582R |
possibly damaging |
Het |
| Ddx55 |
A |
G |
5: 124,697,262 (GRCm39) |
E208G |
probably damaging |
Het |
| Dnaaf4 |
T |
C |
9: 72,869,336 (GRCm39) |
L182P |
probably benign |
Het |
| Dync1h1 |
A |
T |
12: 110,618,087 (GRCm39) |
T3209S |
probably damaging |
Het |
| Ep400 |
A |
T |
5: 110,903,420 (GRCm39) |
L393* |
probably null |
Het |
| Ern1 |
G |
C |
11: 106,289,531 (GRCm39) |
S924C |
probably damaging |
Het |
| Fanci |
T |
C |
7: 79,098,596 (GRCm39) |
I1249T |
probably damaging |
Het |
| Fgfbp3 |
T |
G |
19: 36,895,949 (GRCm39) |
D223A |
probably damaging |
Het |
| Frmd6 |
T |
C |
12: 70,936,794 (GRCm39) |
L313P |
probably damaging |
Het |
| Galnt17 |
A |
G |
5: 130,906,657 (GRCm39) |
Y504H |
probably damaging |
Het |
| Gjb5 |
A |
G |
4: 127,249,718 (GRCm39) |
I142T |
probably benign |
Het |
| Gvin1 |
T |
C |
7: 105,757,413 (GRCm39) |
D2352G |
probably benign |
Het |
| H2-M2 |
G |
A |
17: 37,792,617 (GRCm39) |
T218I |
probably damaging |
Het |
| Hal |
A |
G |
10: 93,326,846 (GRCm39) |
T161A |
probably damaging |
Het |
| Helb |
G |
A |
10: 119,928,424 (GRCm39) |
R806C |
probably damaging |
Het |
| Ift80 |
T |
A |
3: 68,857,809 (GRCm39) |
I279F |
probably benign |
Het |
| Itln1 |
A |
T |
1: 171,358,720 (GRCm39) |
I149N |
possibly damaging |
Het |
| Kcnt2 |
A |
C |
1: 140,437,234 (GRCm39) |
T556P |
probably damaging |
Het |
| Klk1b22 |
A |
T |
7: 43,765,301 (GRCm39) |
E84D |
possibly damaging |
Het |
| Krt78 |
A |
G |
15: 101,858,937 (GRCm39) |
L305P |
probably damaging |
Het |
| Lzts2 |
T |
C |
19: 45,014,806 (GRCm39) |
|
probably benign |
Het |
| Macf1 |
A |
G |
4: 123,265,680 (GRCm39) |
L6843P |
probably damaging |
Het |
| Magi2 |
C |
A |
5: 20,856,202 (GRCm39) |
H841Q |
probably benign |
Het |
| Mdm1 |
A |
T |
10: 118,002,563 (GRCm39) |
H628L |
probably benign |
Het |
| Med23 |
A |
G |
10: 24,783,119 (GRCm39) |
D734G |
probably damaging |
Het |
| Mfsd13a |
T |
C |
19: 46,354,849 (GRCm39) |
W9R |
probably benign |
Het |
| Mki67 |
T |
C |
7: 135,306,334 (GRCm39) |
H576R |
probably damaging |
Het |
| Muc5b |
A |
G |
7: 141,416,572 (GRCm39) |
T3173A |
possibly damaging |
Het |
| Mx1 |
A |
T |
16: 97,255,351 (GRCm39) |
V234E |
possibly damaging |
Het |
| Myh2 |
T |
C |
11: 67,072,141 (GRCm39) |
L623P |
probably damaging |
Het |
| Naip1 |
C |
T |
13: 100,581,243 (GRCm39) |
M1I |
probably null |
Het |
| Ncapd2 |
A |
T |
6: 125,158,117 (GRCm39) |
V337E |
probably damaging |
Het |
| Nit2 |
G |
A |
16: 56,982,056 (GRCm39) |
T64M |
possibly damaging |
Het |
| Or1e34 |
A |
T |
11: 73,778,373 (GRCm39) |
M275K |
probably damaging |
Het |
| Or4c103 |
T |
C |
2: 88,513,495 (GRCm39) |
N194D |
probably damaging |
Het |
| Or6e1 |
A |
T |
14: 54,520,264 (GRCm39) |
F29L |
probably benign |
Het |
| Otub2 |
A |
G |
12: 103,369,656 (GRCm39) |
E245G |
probably benign |
Het |
| Pde8b |
T |
C |
13: 95,178,548 (GRCm39) |
K524R |
probably damaging |
Het |
| Pih1d2 |
C |
T |
9: 50,529,750 (GRCm39) |
|
probably benign |
Het |
| Pik3cg |
T |
A |
12: 32,254,952 (GRCm39) |
D345V |
possibly damaging |
Het |
| Plekhg4 |
A |
T |
8: 106,105,542 (GRCm39) |
Q669L |
possibly damaging |
Het |
| Prlr |
A |
T |
15: 10,319,290 (GRCm39) |
Y73F |
probably damaging |
Het |
| Ptk6 |
T |
C |
2: 180,841,523 (GRCm39) |
I129V |
possibly damaging |
Het |
| Ranbp3 |
A |
T |
17: 57,017,717 (GRCm39) |
T458S |
probably benign |
Het |
| Ren1 |
T |
A |
1: 133,283,249 (GRCm39) |
Y128* |
probably null |
Het |
| Rimkla |
A |
T |
4: 119,325,663 (GRCm39) |
S249T |
probably damaging |
Het |
| Rnf222 |
T |
C |
11: 68,783,789 (GRCm39) |
S119P |
possibly damaging |
Het |
| Rrbp1 |
T |
A |
2: 143,805,251 (GRCm39) |
E1007V |
probably benign |
Het |
| Septin11 |
G |
A |
5: 93,315,437 (GRCm39) |
E389K |
probably benign |
Het |
| Setbp1 |
A |
G |
18: 78,899,697 (GRCm39) |
|
probably null |
Het |
| Slc25a54 |
T |
C |
3: 108,987,894 (GRCm39) |
S12P |
probably benign |
Het |
| Slc26a5 |
A |
C |
5: 22,028,561 (GRCm39) |
F336V |
probably damaging |
Het |
| Slc5a6 |
T |
C |
5: 31,198,114 (GRCm39) |
T254A |
probably damaging |
Het |
| Smcr8 |
G |
T |
11: 60,671,208 (GRCm39) |
|
probably null |
Het |
| Srcap |
A |
T |
7: 127,158,335 (GRCm39) |
|
probably benign |
Het |
| Srrt |
A |
T |
5: 137,296,179 (GRCm39) |
I509N |
probably damaging |
Het |
| Tcf25 |
T |
A |
8: 124,108,243 (GRCm39) |
H99Q |
probably benign |
Het |
| Tmem40 |
A |
G |
6: 115,713,373 (GRCm39) |
V76A |
probably benign |
Het |
| Tnni3k |
A |
T |
3: 154,533,248 (GRCm39) |
S740T |
possibly damaging |
Het |
| Tpd52l2 |
C |
A |
2: 181,144,680 (GRCm39) |
T109K |
probably damaging |
Het |
| Tsnaxip1 |
C |
A |
8: 106,564,128 (GRCm39) |
D109E |
possibly damaging |
Het |
| Uty |
G |
T |
Y: 1,170,921 (GRCm39) |
D313E |
probably damaging |
Het |
| Zfp143 |
A |
T |
7: 109,685,442 (GRCm39) |
K423* |
probably null |
Het |
| Zfp407 |
C |
T |
18: 84,576,739 (GRCm39) |
G1458D |
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 |
|
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'- AATGCTCCACTGGTATGTGAGC -3'
(R):5'- ACCCTCTTAGCGTTTCAGTG -3'
Sequencing Primer
(F):5'- ATCCGGCGAGCAAAGGTCTATC -3'
(R):5'- TAGCGTTTCAGTGGCACC -3'
|
| Posted On |
2016-12-15 |
Incidental Mutation