Incidental Mutation 'R9732:Top3a'
| ID |
731486 |
| 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 # |
R9732 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
60630884-60668191 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 60640391 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Leucine
at position 436
(F436L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000002891
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000002891]
[ENSMUST00000102668]
[ENSMUST00000117743]
[ENSMUST00000120417]
|
| AlphaFold |
O70157 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000002891
AA Change: F436L
PolyPhen 2
Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)
|
| SMART Domains |
Protein: ENSMUSP00000002891
Gene: ENSMUSG00000002814
AA Change: F436L
| 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: ENSMUST00000102668
AA Change: F436L
PolyPhen 2
Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)
|
| SMART Domains |
Protein: ENSMUSP00000099729
Gene: ENSMUSG00000002814
AA Change: F436L
| 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 benign
Transcript: ENSMUST00000117743
AA Change: F411L
PolyPhen 2
Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000113057
Gene: ENSMUSG00000002814
AA Change: F411L
| 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: F411L
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000113653
Gene: ENSMUSG00000002814
AA Change: F411L
| 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: 99.5%
- 20x: 99.0%
|
| 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: 76 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Agrn |
A |
T |
4: 156,258,446 (GRCm39) |
S1007T |
probably benign |
Het |
| Akap10 |
A |
T |
11: 61,787,545 (GRCm39) |
C466S |
probably damaging |
Het |
| Apol9b |
C |
T |
15: 77,619,566 (GRCm39) |
P121S |
possibly damaging |
Het |
| Atr |
T |
A |
9: 95,743,438 (GRCm39) |
Y26N |
probably damaging |
Het |
| Cadm2 |
G |
A |
16: 66,528,297 (GRCm39) |
T346I |
probably benign |
Het |
| Capn7 |
T |
C |
14: 31,090,031 (GRCm39) |
I628T |
probably damaging |
Het |
| Cfap43 |
A |
G |
19: 47,775,446 (GRCm39) |
S609P |
probably damaging |
Het |
| Chst2 |
C |
T |
9: 95,287,951 (GRCm39) |
G132S |
probably benign |
Het |
| Clip2 |
C |
T |
5: 134,533,616 (GRCm39) |
R487Q |
probably benign |
Het |
| Coq10a |
A |
G |
10: 128,199,516 (GRCm39) |
F253L |
probably benign |
Het |
| Cyp2t4 |
C |
T |
7: 26,854,657 (GRCm39) |
P46S |
probably damaging |
Het |
| Ddx54 |
T |
C |
5: 120,763,911 (GRCm39) |
|
probably null |
Het |
| Dip2a |
T |
A |
10: 76,110,077 (GRCm39) |
I1180L |
probably benign |
Het |
| Dpp8 |
G |
T |
9: 64,970,862 (GRCm39) |
|
probably null |
Het |
| Efr3a |
T |
A |
15: 65,720,139 (GRCm39) |
N378K |
probably benign |
Het |
| Etl4 |
C |
T |
2: 20,748,373 (GRCm39) |
T237I |
probably damaging |
Het |
| Exo1 |
T |
A |
1: 175,727,065 (GRCm39) |
S459T |
probably benign |
Het |
| Fam81b |
G |
A |
13: 76,399,985 (GRCm39) |
T91I |
probably benign |
Het |
| Fry |
A |
G |
5: 150,328,758 (GRCm39) |
E1297G |
probably benign |
Het |
| Gm11110 |
G |
A |
17: 57,410,382 (GRCm39) |
L39F |
unknown |
Het |
| Gm3233 |
G |
T |
10: 77,595,147 (GRCm39) |
Q124K |
unknown |
Het |
| Gm7145 |
C |
G |
1: 117,913,839 (GRCm39) |
H240Q |
probably benign |
Het |
| Gnrh1 |
G |
T |
14: 67,985,316 (GRCm39) |
R67L |
possibly damaging |
Het |
| Grip2 |
T |
A |
6: 91,761,686 (GRCm39) |
E236V |
probably damaging |
Het |
| H3c10 |
A |
T |
13: 21,902,186 (GRCm39) |
I120F |
probably benign |
Het |
| Hectd4 |
G |
T |
5: 121,392,254 (GRCm39) |
E173* |
probably null |
Het |
| Hgf |
T |
A |
5: 16,820,748 (GRCm39) |
L632I |
probably damaging |
Het |
| Igsf11 |
T |
C |
16: 38,843,652 (GRCm39) |
V255A |
probably benign |
Het |
| Jmjd4 |
G |
T |
11: 59,341,339 (GRCm39) |
|
probably null |
Het |
| Khdrbs3 |
C |
A |
15: 68,885,212 (GRCm39) |
N71K |
probably damaging |
Het |
| Kif20b |
A |
G |
19: 34,930,353 (GRCm39) |
D1286G |
probably benign |
Het |
| Lpin3 |
T |
A |
2: 160,734,196 (GRCm39) |
L27Q |
probably damaging |
Het |
| Macroh2a1 |
G |
C |
13: 56,243,976 (GRCm39) |
F183L |
probably benign |
Het |
| Mcm5 |
C |
T |
8: 75,844,168 (GRCm39) |
S313F |
probably benign |
Het |
| Mipep |
T |
A |
14: 61,033,637 (GRCm39) |
F184I |
probably damaging |
Het |
| Mst1 |
A |
T |
9: 107,959,425 (GRCm39) |
D237V |
possibly damaging |
Het |
| Mycbp2 |
T |
C |
14: 103,448,749 (GRCm39) |
D1803G |
probably damaging |
Het |
| Ncoa6 |
T |
G |
2: 155,244,636 (GRCm39) |
K1978T |
probably damaging |
Het |
| Nkain4 |
G |
A |
2: 180,585,901 (GRCm39) |
T54I |
probably damaging |
Het |
| Olig3 |
G |
A |
10: 19,233,151 (GRCm39) |
A259T |
probably benign |
Het |
| Or5w14 |
T |
C |
2: 87,541,489 (GRCm39) |
T254A |
possibly damaging |
Het |
| Pacs1 |
A |
G |
19: 5,184,997 (GRCm39) |
W943R |
probably damaging |
Het |
| Pkp4 |
T |
A |
2: 59,138,797 (GRCm39) |
L349Q |
possibly damaging |
Het |
| Polh |
A |
T |
17: 46,498,997 (GRCm39) |
H239Q |
probably benign |
Het |
| Ptprq |
G |
C |
10: 107,412,767 (GRCm39) |
C1777W |
probably damaging |
Het |
| Rhod |
A |
T |
19: 4,476,740 (GRCm39) |
V127E |
probably damaging |
Het |
| Rnf6 |
A |
G |
5: 146,152,931 (GRCm39) |
S84P |
probably benign |
Het |
| Rundc3b |
T |
C |
5: 8,562,406 (GRCm39) |
T321A |
probably damaging |
Het |
| Rxfp2 |
G |
A |
5: 149,993,767 (GRCm39) |
A620T |
probably damaging |
Het |
| Sacm1l |
A |
G |
9: 123,381,863 (GRCm39) |
E155G |
probably benign |
Het |
| Saxo5 |
C |
T |
8: 3,526,167 (GRCm39) |
H107Y |
possibly damaging |
Het |
| Sdad1 |
A |
T |
5: 92,438,942 (GRCm39) |
D471E |
probably benign |
Het |
| Sema6a |
T |
A |
18: 47,381,925 (GRCm39) |
N874I |
probably damaging |
Het |
| Serinc4 |
C |
A |
2: 121,283,631 (GRCm39) |
W283L |
possibly damaging |
Het |
| Simc1 |
GCAGTCACTAAGAAGTGTAATGCAGTCATCAGGAGGTGTGACACAGTCACTAAGAAGTGTGATGCAGTCACCAGGAGGTGTGA |
GCAGTCACTAAGAAGTGTGATGCAGTCACCAGGAGGTGTGA |
13: 54,673,177 (GRCm39) |
|
probably benign |
Het |
| Slc24a3 |
A |
T |
2: 145,458,591 (GRCm39) |
S524C |
probably damaging |
Het |
| Slc4a10 |
T |
G |
2: 62,135,086 (GRCm39) |
S1042R |
probably damaging |
Het |
| Smg7 |
A |
T |
1: 152,736,212 (GRCm39) |
V190D |
probably damaging |
Het |
| Sub1 |
T |
A |
15: 11,986,650 (GRCm39) |
I66F |
possibly damaging |
Het |
| Svop |
G |
A |
5: 114,201,142 (GRCm39) |
P109S |
probably damaging |
Het |
| Synj1 |
G |
A |
16: 90,761,414 (GRCm39) |
P684L |
probably damaging |
Het |
| Synm |
A |
G |
7: 67,385,652 (GRCm39) |
V670A |
probably damaging |
Het |
| Tep1 |
T |
C |
14: 51,088,162 (GRCm39) |
I792V |
probably benign |
Het |
| Tex22 |
A |
G |
12: 113,052,196 (GRCm39) |
T85A |
possibly damaging |
Het |
| Tmem151a |
C |
T |
19: 5,131,937 (GRCm39) |
S423N |
probably damaging |
Het |
| Tnks1bp1 |
T |
A |
2: 84,889,727 (GRCm39) |
W685R |
probably damaging |
Het |
| Trim55 |
A |
T |
3: 19,716,039 (GRCm39) |
I200F |
probably damaging |
Het |
| Trpv6 |
T |
A |
6: 41,603,862 (GRCm39) |
R186* |
probably null |
Het |
| Ttc6 |
G |
A |
12: 57,775,335 (GRCm39) |
C1677Y |
probably benign |
Het |
| Ttn |
C |
T |
2: 76,769,206 (GRCm39) |
V2831I |
unknown |
Het |
| Tyrp1 |
T |
A |
4: 80,758,930 (GRCm39) |
S268T |
possibly damaging |
Het |
| Unc5d |
C |
T |
8: 29,381,319 (GRCm39) |
|
probably null |
Het |
| Usb1 |
G |
T |
8: 96,065,375 (GRCm39) |
V129L |
probably damaging |
Het |
| Usp22 |
G |
A |
11: 61,051,437 (GRCm39) |
T302M |
probably damaging |
Het |
| Vmn1r210 |
C |
A |
13: 23,011,379 (GRCm39) |
L302F |
possibly damaging |
Het |
| Zfp689 |
C |
A |
7: 127,044,283 (GRCm39) |
E116* |
probably null |
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 |
|
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'- TTGTCCTCAGGCTCCATCAG -3'
(R):5'- TCACGTCTTTGCAGGCCTTG -3'
Sequencing Primer
(F):5'- TCCATCAGGAGTCACAGGCTG -3'
(R):5'- CCTTGAGGAGCCATGGGTTC -3'
|
| Posted On |
2022-11-14 |
Incidental Mutation