Incidental Mutation 'R6919:Top3a'
ID |
539517 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Top3a
|
Ensembl Gene |
ENSMUSG00000002814 |
Gene Name |
topoisomerase (DNA) III alpha |
Synonyms |
Top IIIa |
MMRRC Submission |
045039-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R6919 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
11 |
Chromosomal Location |
60630884-60668191 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 60640319 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Phenylalanine
at position 460
(I460F)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000099729
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000002891]
[ENSMUST00000102668]
[ENSMUST00000117743]
[ENSMUST00000120417]
|
AlphaFold |
O70157 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000002891
AA Change: I460F
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000002891 Gene: ENSMUSG00000002814 AA Change: I460F
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: I460F
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000099729 Gene: ENSMUSG00000002814 AA Change: I460F
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: I435F
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000113057 Gene: ENSMUSG00000002814 AA Change: I435F
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: I435F
PolyPhen 2
Score 0.125 (Sensitivity: 0.93; Specificity: 0.86)
|
SMART Domains |
Protein: ENSMUSP00000113653 Gene: ENSMUSG00000002814 AA Change: I435F
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 |
0.8048 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.3%
- 20x: 97.8%
|
Validation Efficiency |
99% (84/85) |
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: 83 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700086D15Rik |
A |
G |
11: 65,043,356 (GRCm39) |
|
probably benign |
Het |
6430548M08Rik |
T |
C |
8: 120,872,221 (GRCm39) |
S50P |
probably damaging |
Het |
Aacs |
A |
G |
5: 125,583,227 (GRCm39) |
D261G |
probably benign |
Het |
Abcc4 |
T |
A |
14: 118,832,306 (GRCm39) |
T775S |
probably benign |
Het |
Acsl6 |
A |
G |
11: 54,232,582 (GRCm39) |
|
probably null |
Het |
Agbl5 |
T |
A |
5: 31,062,061 (GRCm39) |
F196I |
probably benign |
Het |
Ahnak2 |
T |
C |
12: 112,741,118 (GRCm39) |
T985A |
possibly damaging |
Het |
Ak1 |
A |
T |
2: 32,521,134 (GRCm39) |
D101V |
possibly damaging |
Het |
Alx1 |
A |
G |
10: 102,861,061 (GRCm39) |
Y156H |
probably damaging |
Het |
Angptl7 |
T |
A |
4: 148,584,488 (GRCm39) |
S87C |
probably benign |
Het |
Ankrd36 |
A |
G |
11: 5,579,299 (GRCm39) |
T188A |
probably benign |
Het |
Arhgap11a |
A |
C |
2: 113,670,054 (GRCm39) |
S356R |
possibly damaging |
Het |
Ascc3 |
G |
T |
10: 50,521,849 (GRCm39) |
E455* |
probably null |
Het |
Atp6v0a2 |
G |
A |
5: 124,789,225 (GRCm39) |
|
probably null |
Het |
B3gnt7 |
T |
C |
1: 86,233,416 (GRCm39) |
W104R |
probably damaging |
Het |
Bbs9 |
G |
A |
9: 22,723,840 (GRCm39) |
|
probably null |
Het |
Cc2d2a |
T |
A |
5: 43,860,557 (GRCm39) |
D544E |
probably benign |
Het |
Cic |
C |
T |
7: 24,971,202 (GRCm39) |
T311I |
probably benign |
Het |
Cngb1 |
T |
A |
8: 95,975,003 (GRCm39) |
R1157W |
probably null |
Het |
Cntln |
A |
G |
4: 85,033,605 (GRCm39) |
H1310R |
probably benign |
Het |
Cntnap5c |
A |
T |
17: 58,600,948 (GRCm39) |
I764F |
probably benign |
Het |
Col26a1 |
T |
C |
5: 136,773,088 (GRCm39) |
Q362R |
possibly damaging |
Het |
Cyp2c29 |
G |
A |
19: 39,279,585 (GRCm39) |
R100K |
probably benign |
Het |
D17H6S53E |
C |
G |
17: 35,346,222 (GRCm39) |
D44E |
probably damaging |
Het |
Dap3 |
A |
G |
3: 88,838,296 (GRCm39) |
V65A |
probably damaging |
Het |
Dna2 |
A |
T |
10: 62,792,782 (GRCm39) |
I266F |
probably damaging |
Het |
Dnah14 |
G |
A |
1: 181,412,631 (GRCm39) |
G57E |
probably benign |
Het |
Dock9 |
A |
T |
14: 121,880,564 (GRCm39) |
V333E |
probably benign |
Het |
Dpm1 |
A |
G |
2: 168,072,195 (GRCm39) |
Y27H |
probably damaging |
Het |
Dsp |
A |
T |
13: 38,351,631 (GRCm39) |
Y150F |
possibly damaging |
Het |
Emilin3 |
A |
T |
2: 160,750,018 (GRCm39) |
I577N |
probably damaging |
Het |
Erap1 |
A |
G |
13: 74,819,552 (GRCm39) |
T189A |
probably benign |
Het |
Fat2 |
A |
G |
11: 55,173,597 (GRCm39) |
I2372T |
possibly damaging |
Het |
Fbn2 |
A |
T |
18: 58,257,259 (GRCm39) |
|
probably null |
Het |
Gnl1 |
A |
T |
17: 36,298,425 (GRCm39) |
R390* |
probably null |
Het |
Hivep1 |
A |
G |
13: 42,336,928 (GRCm39) |
I2336V |
probably benign |
Het |
Il17rb |
C |
G |
14: 29,726,228 (GRCm39) |
|
probably null |
Het |
Itga9 |
T |
C |
9: 118,716,883 (GRCm39) |
W396R |
probably damaging |
Het |
Katnal2 |
A |
G |
18: 77,098,734 (GRCm39) |
V152A |
probably benign |
Het |
Kcnk3 |
A |
G |
5: 30,779,744 (GRCm39) |
T265A |
probably benign |
Het |
Klhl1 |
T |
C |
14: 96,374,030 (GRCm39) |
Y672C |
probably benign |
Het |
Leng8 |
C |
A |
7: 4,146,625 (GRCm39) |
N412K |
possibly damaging |
Het |
Lrrc9 |
T |
A |
12: 72,553,167 (GRCm39) |
F1356L |
probably benign |
Het |
Map7 |
A |
G |
10: 20,046,828 (GRCm39) |
|
probably benign |
Het |
Mei1 |
T |
C |
15: 81,966,131 (GRCm39) |
F251S |
probably damaging |
Het |
Mia2 |
A |
G |
12: 59,176,681 (GRCm39) |
E9G |
possibly damaging |
Het |
Ms4a13 |
C |
A |
19: 11,149,249 (GRCm39) |
W182C |
probably benign |
Het |
Muc16 |
C |
T |
9: 18,571,595 (GRCm39) |
R308K |
unknown |
Het |
Or4c103 |
G |
A |
2: 88,514,028 (GRCm39) |
T16I |
possibly damaging |
Het |
Or8g22 |
A |
G |
9: 38,958,827 (GRCm39) |
|
probably benign |
Het |
Pcnt |
A |
G |
10: 76,221,632 (GRCm39) |
V1998A |
probably benign |
Het |
Pgm2 |
A |
T |
5: 64,254,368 (GRCm39) |
N51I |
probably benign |
Het |
Piezo1 |
T |
A |
8: 123,217,020 (GRCm39) |
H1333L |
probably damaging |
Het |
Prg2 |
G |
A |
2: 84,813,600 (GRCm39) |
V199M |
probably damaging |
Het |
Prss51 |
T |
C |
14: 64,334,937 (GRCm39) |
V182A |
probably damaging |
Het |
Psmb9 |
A |
T |
17: 34,402,199 (GRCm39) |
Y132* |
probably null |
Het |
Ralyl |
T |
C |
3: 13,842,091 (GRCm39) |
Y76H |
probably damaging |
Het |
Rnaset2a |
A |
T |
17: 8,349,114 (GRCm39) |
D174E |
probably benign |
Het |
Rnft1 |
G |
A |
11: 86,386,156 (GRCm39) |
|
probably null |
Het |
Robo2 |
T |
C |
16: 73,758,755 (GRCm39) |
Y676C |
probably damaging |
Het |
Samd9l |
T |
G |
6: 3,376,313 (GRCm39) |
Y316S |
possibly damaging |
Het |
Siah3 |
T |
A |
14: 75,693,578 (GRCm39) |
F28Y |
possibly damaging |
Het |
Slc28a3 |
C |
T |
13: 58,721,257 (GRCm39) |
|
probably null |
Het |
Slc8a1 |
A |
G |
17: 81,696,301 (GRCm39) |
F911S |
probably damaging |
Het |
Spata31e2 |
T |
C |
1: 26,722,015 (GRCm39) |
Y1055C |
probably benign |
Het |
Speg |
T |
A |
1: 75,364,552 (GRCm39) |
L156* |
probably null |
Het |
Spopl |
T |
G |
2: 23,407,873 (GRCm39) |
M269L |
probably benign |
Het |
Tacr1 |
C |
T |
6: 82,534,054 (GRCm39) |
T360I |
probably benign |
Het |
Tasor |
T |
A |
14: 27,171,758 (GRCm39) |
L397* |
probably null |
Het |
Tmem262 |
A |
G |
19: 6,130,767 (GRCm39) |
E95G |
probably benign |
Het |
Tmem68 |
G |
T |
4: 3,569,669 (GRCm39) |
T7N |
possibly damaging |
Het |
Trafd1 |
G |
A |
5: 121,522,137 (GRCm39) |
R5* |
probably null |
Het |
Trim16 |
T |
A |
11: 62,731,695 (GRCm39) |
V435D |
possibly damaging |
Het |
Tspan17 |
A |
G |
13: 54,943,846 (GRCm39) |
D236G |
probably damaging |
Het |
Tssk2 |
A |
T |
16: 17,717,565 (GRCm39) |
M323L |
probably benign |
Het |
Ubqln5 |
A |
G |
7: 103,778,215 (GRCm39) |
V203A |
probably benign |
Het |
Utrn |
A |
T |
10: 12,569,214 (GRCm39) |
L1134* |
probably null |
Het |
Vmn1r37 |
C |
T |
6: 66,708,704 (GRCm39) |
S73F |
possibly damaging |
Het |
Vps13c |
A |
G |
9: 67,834,734 (GRCm39) |
K1688E |
probably damaging |
Het |
Zbtb39 |
A |
G |
10: 127,577,711 (GRCm39) |
D95G |
probably damaging |
Het |
Zfhx3 |
T |
A |
8: 109,527,160 (GRCm39) |
I1019N |
probably damaging |
Het |
Zfp207 |
C |
T |
11: 80,286,329 (GRCm39) |
|
probably benign |
Het |
Zmiz1 |
C |
T |
14: 25,644,062 (GRCm39) |
T169M |
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 |
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'- TCAGATCAGTTGTCCTCAGGCTC -3'
(R):5'- AGGAGCCATGGGTTCTGTTC -3'
Sequencing Primer
(F):5'- TCCATCAGGAGTCACAGGCTG -3'
(R):5'- CTCACAGTGGCGTAAATCAAGTTG -3'
|
Posted On |
2018-11-06 |