Incidental Mutation 'R5719:Top3b'
| ID |
451380 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Top3b
|
| Ensembl Gene |
ENSMUSG00000022779 |
| Gene Name |
topoisomerase (DNA) III beta |
| Synonyms |
Topo III beta |
| MMRRC Submission |
043339-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.248)
|
| Stock # |
R5719 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
16 |
| Chromosomal Location |
16688600-16710854 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 16703700 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 285
(V285A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000118398
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023465]
[ENSMUST00000119787]
[ENSMUST00000139740]
[ENSMUST00000156502]
[ENSMUST00000232080]
[ENSMUST00000232017]
[ENSMUST00000232581]
|
| AlphaFold |
Q9Z321 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000023465
AA Change: V285A
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000023465
Gene: ENSMUSG00000022779
AA Change: V285A
| Domain | Start | End | E-Value | Type |
|---|
|
TOPRIM
|
3 |
138 |
2.64e-27 |
SMART |
|
TOP1Bc
|
146 |
242 |
3.84e-38 |
SMART |
|
TOP1Ac
|
289 |
545 |
2.28e-104 |
SMART |
|
low complexity region
|
824 |
850 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000118424
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000119787
AA Change: V285A
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000112913
Gene: ENSMUSG00000022779
AA Change: V285A
| Domain | Start | End | E-Value | Type |
|---|
|
TOPRIM
|
3 |
138 |
2.64e-27 |
SMART |
|
TOP1Bc
|
146 |
242 |
3.84e-38 |
SMART |
|
TOP1Ac
|
289 |
545 |
2.28e-104 |
SMART |
|
low complexity region
|
824 |
850 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000124185
|
| SMART Domains |
Protein: ENSMUSP00000117491
Gene: ENSMUSG00000022779
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:RING
|
99 |
152 |
1e-13 |
BLAST |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000128407
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000128497
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000129969
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000147531
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000135597
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000139740
AA Change: V285A
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000118398
Gene: ENSMUSG00000022779
AA Change: V285A
| Domain | Start | End | E-Value | Type |
|---|
|
TOPRIM
|
3 |
138 |
2.64e-27 |
SMART |
|
TOP1Bc
|
146 |
242 |
3.84e-38 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150424
|
| Predicted Effect |
|
| SMART Domains |
Protein: ENSMUSP00000115214
Gene: ENSMUSG00000022779
AA Change: V79A
| Domain | Start | End | E-Value | Type |
|---|
|
TOP1Ac
|
84 |
340 |
2.28e-104 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000156502
|
| SMART Domains |
Protein: ENSMUSP00000115491
Gene: ENSMUSG00000022779
| Domain | Start | End | E-Value | Type |
|---|
|
TOPRIM
|
3 |
138 |
2.64e-27 |
SMART |
|
TOP1Bc
|
146 |
234 |
4.29e-27 |
SMART |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000232117
AA Change: V79A
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000232080
AA Change: V285A
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000232153
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000231432
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000231966
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000231278
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000231834
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000232017
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000232581
AA Change: V285A
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000232656
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000232531
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000232523
|
| Meta Mutation Damage Score |
0.7390 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.3%
|
| Validation Efficiency |
98% (79/81) |
| 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 relaxing the supercoils and altering the topology of DNA. The enzyme interacts with DNA helicase SGS1 and plays a role in DNA recombination, cellular aging and maintenance of genome stability. Low expression of this gene may be related to higher survival rates in breast cancer patients. This gene has a pseudogene on chromosome 22. Alternate splicing results in multiple transcript variants. Additional alternatively spliced transcript variants of this gene have been described, but their full-length nature is not known. [provided by RefSeq, Aug 2013]
PHENOTYPE: Homozygous null mice develop to maturity but die prematurely showing enlargement of lymphatic organs and glomerulonephritis. Intercrossing of mutant mice progressively results in infertility that is correlated to increased aneuploidy in germ cells. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 69 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A130051J06Rik |
C |
T |
15: 95,688,641 (GRCm39) |
|
probably benign |
Het |
| A630001G21Rik |
T |
A |
1: 85,651,106 (GRCm39) |
R110W |
probably benign |
Het |
| Abca4 |
T |
C |
3: 121,928,915 (GRCm39) |
|
probably null |
Het |
| Abcc3 |
T |
C |
11: 94,241,894 (GRCm39) |
N1379S |
probably damaging |
Het |
| Actrt3 |
A |
C |
3: 30,652,276 (GRCm39) |
F273V |
probably benign |
Het |
| Adam22 |
T |
C |
5: 8,417,217 (GRCm39) |
D75G |
probably benign |
Het |
| Ash1l |
C |
A |
3: 88,961,805 (GRCm39) |
D2392E |
possibly damaging |
Het |
| Ash1l |
T |
C |
3: 88,965,933 (GRCm39) |
I2445T |
probably damaging |
Het |
| Bltp2 |
T |
A |
11: 78,164,071 (GRCm39) |
H1137Q |
probably damaging |
Het |
| Cacna2d2 |
A |
G |
9: 107,401,851 (GRCm39) |
I762V |
probably benign |
Het |
| Ccdc127 |
T |
A |
13: 74,505,187 (GRCm39) |
|
probably benign |
Het |
| Ccdc91 |
C |
G |
6: 147,477,001 (GRCm39) |
L230V |
unknown |
Het |
| Cdk13 |
A |
G |
13: 17,894,240 (GRCm39) |
I1129T |
probably damaging |
Het |
| Cnot1 |
C |
T |
8: 96,470,924 (GRCm39) |
R1308H |
possibly damaging |
Het |
| Crhr2 |
T |
C |
6: 55,080,207 (GRCm39) |
H144R |
probably damaging |
Het |
| Dnmt1 |
T |
C |
9: 20,823,891 (GRCm39) |
N993S |
possibly damaging |
Het |
| Eif4g1 |
T |
A |
16: 20,507,761 (GRCm39) |
V1182D |
probably damaging |
Het |
| Eml2 |
G |
A |
7: 18,935,088 (GRCm39) |
V432I |
probably damaging |
Het |
| Fam234a |
T |
A |
17: 26,433,627 (GRCm39) |
Q399L |
possibly damaging |
Het |
| Fyb1 |
A |
T |
15: 6,610,350 (GRCm39) |
K308* |
probably null |
Het |
| Gfral |
C |
T |
9: 76,104,328 (GRCm39) |
R228Q |
probably benign |
Het |
| Gm10309 |
A |
T |
17: 86,806,421 (GRCm39) |
|
probably benign |
Het |
| Gm11595 |
G |
A |
11: 99,663,381 (GRCm39) |
R100C |
unknown |
Het |
| Gm5501 |
G |
A |
18: 9,917,417 (GRCm39) |
|
noncoding transcript |
Het |
| Gm6309 |
A |
T |
5: 146,104,992 (GRCm39) |
V307D |
probably benign |
Het |
| Gm9871 |
T |
A |
6: 101,773,148 (GRCm39) |
|
noncoding transcript |
Het |
| Greb1l |
G |
A |
18: 10,542,427 (GRCm39) |
E1341K |
probably damaging |
Het |
| Herc3 |
T |
A |
6: 58,871,528 (GRCm39) |
V70E |
possibly damaging |
Het |
| Hes7 |
A |
G |
11: 69,012,415 (GRCm39) |
E41G |
probably damaging |
Het |
| Ifi27l2b |
T |
C |
12: 103,422,046 (GRCm39) |
D106G |
unknown |
Het |
| Igfbp6 |
A |
T |
15: 102,056,616 (GRCm39) |
Y184F |
probably damaging |
Het |
| Isyna1 |
A |
G |
8: 71,047,352 (GRCm39) |
Y25C |
probably damaging |
Het |
| Kcng3 |
G |
T |
17: 83,938,563 (GRCm39) |
T162K |
possibly damaging |
Het |
| Krt36 |
T |
C |
11: 99,994,987 (GRCm39) |
D195G |
possibly damaging |
Het |
| Lrwd1 |
A |
T |
5: 136,161,093 (GRCm39) |
|
probably null |
Het |
| Lsg1 |
C |
T |
16: 30,380,593 (GRCm39) |
A615T |
probably benign |
Het |
| Myo5a |
A |
T |
9: 75,059,213 (GRCm39) |
E480D |
probably damaging |
Het |
| Myrf |
T |
A |
19: 10,194,087 (GRCm39) |
D690V |
probably damaging |
Het |
| N4bp1 |
T |
C |
8: 87,578,312 (GRCm39) |
I684M |
probably damaging |
Het |
| Nlrc3 |
C |
T |
16: 3,781,589 (GRCm39) |
A607T |
probably damaging |
Het |
| Nuak1 |
A |
T |
10: 84,245,584 (GRCm39) |
I87N |
probably damaging |
Het |
| Odad2 |
G |
T |
18: 7,211,496 (GRCm39) |
Q793K |
probably benign |
Het |
| Or5p66 |
T |
G |
7: 107,885,599 (GRCm39) |
T245P |
probably damaging |
Het |
| Or5w11 |
T |
C |
2: 87,459,475 (GRCm39) |
|
probably null |
Het |
| Or8b4 |
A |
T |
9: 37,830,647 (GRCm39) |
E236D |
probably damaging |
Het |
| Osbpl9 |
T |
A |
4: 108,919,763 (GRCm39) |
R689* |
probably null |
Het |
| Ppargc1b |
T |
A |
18: 61,440,639 (GRCm39) |
M744L |
probably benign |
Het |
| Prss40 |
A |
T |
1: 34,591,598 (GRCm39) |
|
probably benign |
Het |
| Ptprd |
T |
A |
4: 75,972,839 (GRCm39) |
|
probably null |
Het |
| Rft1 |
T |
C |
14: 30,385,183 (GRCm39) |
|
probably benign |
Het |
| Rftn2 |
C |
T |
1: 55,253,445 (GRCm39) |
V53I |
probably damaging |
Het |
| Rnaset2a |
T |
C |
17: 8,350,879 (GRCm39) |
Y167C |
probably damaging |
Het |
| Schip1 |
T |
C |
3: 68,315,560 (GRCm39) |
|
probably benign |
Het |
| Scn5a |
A |
C |
9: 119,359,118 (GRCm39) |
L643R |
possibly damaging |
Het |
| Shroom3 |
T |
A |
5: 93,090,877 (GRCm39) |
M1128K |
probably benign |
Het |
| Skint8 |
C |
A |
4: 111,807,390 (GRCm39) |
L359M |
probably damaging |
Het |
| Slc14a2 |
A |
G |
18: 78,252,257 (GRCm39) |
L18P |
probably benign |
Het |
| Slc22a3 |
C |
T |
17: 12,642,691 (GRCm39) |
V509M |
probably damaging |
Het |
| Slc7a5 |
A |
C |
8: 122,610,381 (GRCm39) |
F478V |
probably benign |
Het |
| Smc1b |
T |
A |
15: 84,980,859 (GRCm39) |
N803I |
probably benign |
Het |
| Snf8 |
T |
A |
11: 95,932,551 (GRCm39) |
N115K |
probably damaging |
Het |
| Stox2 |
T |
A |
8: 47,866,172 (GRCm39) |
K57* |
probably null |
Het |
| Tmem248 |
T |
A |
5: 130,258,429 (GRCm39) |
F41I |
probably damaging |
Het |
| Tmprss7 |
T |
C |
16: 45,506,793 (GRCm39) |
S90G |
probably damaging |
Het |
| Tsen15 |
T |
C |
1: 152,247,534 (GRCm39) |
T153A |
probably damaging |
Het |
| Usp34 |
T |
G |
11: 23,304,846 (GRCm39) |
S360A |
probably benign |
Het |
| Wdr24 |
T |
C |
17: 26,047,314 (GRCm39) |
|
probably null |
Het |
| Zbtb2 |
G |
A |
10: 4,319,456 (GRCm39) |
T190I |
probably benign |
Het |
| Zranb3 |
T |
C |
1: 127,891,613 (GRCm39) |
S788G |
probably benign |
Het |
|
| Other mutations in Top3b |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00823:Top3b
|
APN |
16 |
16,705,486 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL01512:Top3b
|
APN |
16 |
16,709,286 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
IGL01552:Top3b
|
APN |
16 |
16,705,687 (GRCm39) |
splice site |
probably benign |
|
|
IGL01738:Top3b
|
APN |
16 |
16,698,468 (GRCm39) |
missense |
probably benign |
0.04 |
|
IGL02090:Top3b
|
APN |
16 |
16,709,334 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R0143:Top3b
|
UTSW |
16 |
16,701,389 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R0883:Top3b
|
UTSW |
16 |
16,697,301 (GRCm39) |
splice site |
probably benign |
|
|
R1386:Top3b
|
UTSW |
16 |
16,698,493 (GRCm39) |
missense |
probably benign |
0.29 |
|
R1440:Top3b
|
UTSW |
16 |
16,710,641 (GRCm39) |
nonsense |
probably null |
|
|
R1958:Top3b
|
UTSW |
16 |
16,702,166 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
R1970:Top3b
|
UTSW |
16 |
16,701,383 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4211:Top3b
|
UTSW |
16 |
16,700,396 (GRCm39) |
splice site |
probably null |
|
|
R4292:Top3b
|
UTSW |
16 |
16,701,383 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4307:Top3b
|
UTSW |
16 |
16,707,481 (GRCm39) |
splice site |
probably benign |
|
|
R4832:Top3b
|
UTSW |
16 |
16,708,526 (GRCm39) |
nonsense |
probably null |
|
|
R5047:Top3b
|
UTSW |
16 |
16,709,282 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5364:Top3b
|
UTSW |
16 |
16,704,834 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5590:Top3b
|
UTSW |
16 |
16,709,441 (GRCm39) |
intron |
probably benign |
|
|
R5604:Top3b
|
UTSW |
16 |
16,707,399 (GRCm39) |
nonsense |
probably null |
|
|
R5969:Top3b
|
UTSW |
16 |
16,701,429 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6018:Top3b
|
UTSW |
16 |
16,710,756 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6144:Top3b
|
UTSW |
16 |
16,697,005 (GRCm39) |
splice site |
probably null |
|
|
R6155:Top3b
|
UTSW |
16 |
16,709,373 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6341:Top3b
|
UTSW |
16 |
16,696,935 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6700:Top3b
|
UTSW |
16 |
16,710,533 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R7417:Top3b
|
UTSW |
16 |
16,695,714 (GRCm39) |
start gained |
probably benign |
|
|
R7586:Top3b
|
UTSW |
16 |
16,709,232 (GRCm39) |
missense |
probably benign |
0.44 |
|
R7747:Top3b
|
UTSW |
16 |
16,705,585 (GRCm39) |
missense |
probably benign |
0.17 |
|
R8382:Top3b
|
UTSW |
16 |
16,705,867 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8438:Top3b
|
UTSW |
16 |
16,709,364 (GRCm39) |
missense |
probably benign |
0.04 |
|
R9142:Top3b
|
UTSW |
16 |
16,701,299 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9311:Top3b
|
UTSW |
16 |
16,700,563 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9630:Top3b
|
UTSW |
16 |
16,710,354 (GRCm39) |
missense |
probably benign |
0.03 |
|
X0011:Top3b
|
UTSW |
16 |
16,708,053 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACGTGGCCTCTGTTGACTTC -3'
(R):5'- GGGTTACAGTATTGGCCCTG -3'
Sequencing Primer
(F):5'- AACAGAGGATGCGTGTGCTCTC -3'
(R):5'- GCCCTGTACCAGTCTCAAGATG -3'
|
| Posted On |
2017-01-03 |
Incidental Mutation