Incidental Mutation 'R0039:Topors'
ID |
18581 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Topors
|
Ensembl Gene |
ENSMUSG00000036822 |
Gene Name |
topoisomerase I binding, arginine/serine-rich |
Synonyms |
|
MMRRC Submission |
038333-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.484)
|
Stock # |
R0039 (G1)
|
Quality Score |
|
Status
|
Validated
|
Chromosome |
4 |
Chromosomal Location |
40259601-40269850 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 40262772 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Proline
at position 171
(S171P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000046843
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000042575]
|
AlphaFold |
Q80Z37 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000042575
AA Change: S171P
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000046843 Gene: ENSMUSG00000036822 AA Change: S171P
Domain | Start | End | E-Value | Type |
low complexity region
|
2 |
18 |
N/A |
INTRINSIC |
low complexity region
|
29 |
44 |
N/A |
INTRINSIC |
RING
|
104 |
142 |
7.27e-7 |
SMART |
low complexity region
|
196 |
209 |
N/A |
INTRINSIC |
low complexity region
|
381 |
391 |
N/A |
INTRINSIC |
low complexity region
|
434 |
454 |
N/A |
INTRINSIC |
low complexity region
|
465 |
478 |
N/A |
INTRINSIC |
low complexity region
|
494 |
505 |
N/A |
INTRINSIC |
low complexity region
|
522 |
535 |
N/A |
INTRINSIC |
low complexity region
|
589 |
610 |
N/A |
INTRINSIC |
low complexity region
|
620 |
696 |
N/A |
INTRINSIC |
low complexity region
|
756 |
780 |
N/A |
INTRINSIC |
low complexity region
|
837 |
860 |
N/A |
INTRINSIC |
low complexity region
|
877 |
894 |
N/A |
INTRINSIC |
|
Meta Mutation Damage Score |
0.3710 |
Coding Region Coverage |
- 1x: 82.5%
- 3x: 74.4%
- 10x: 54.3%
- 20x: 37.4%
|
Validation Efficiency |
95% (60/63) |
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a nuclear protein which is serine and arginine rich, and contains a RING-type zinc finger domain. It is highly expressed in the testis, and functions as an ubiquitin-protein E3 ligase. Mutations in this gene are associated with retinitis pigmentosa type 31. Alternatively spliced transcript variants, encoding different isoforms, have been observed for this locus. [provided by RefSeq, Sep 2010]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 29 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Arhgap5 |
C |
T |
12: 52,565,518 (GRCm39) |
Q830* |
probably null |
Het |
Atic |
A |
T |
1: 71,617,009 (GRCm39) |
E523V |
possibly damaging |
Het |
Cass4 |
T |
A |
2: 172,268,900 (GRCm39) |
F329L |
probably damaging |
Het |
Cdk17 |
A |
T |
10: 93,062,640 (GRCm39) |
|
probably benign |
Het |
Cep120 |
C |
T |
18: 53,819,033 (GRCm39) |
R886H |
probably benign |
Het |
Cep170 |
A |
C |
1: 176,610,061 (GRCm39) |
|
probably null |
Het |
Dsg3 |
A |
G |
18: 20,654,541 (GRCm39) |
K82E |
probably benign |
Het |
Dtd1 |
C |
T |
2: 144,588,896 (GRCm39) |
R185W |
probably damaging |
Het |
Glt6d1 |
C |
A |
2: 25,684,739 (GRCm39) |
|
probably null |
Het |
Hectd1 |
T |
G |
12: 51,800,608 (GRCm39) |
E2070A |
possibly damaging |
Het |
Ifit1bl2 |
T |
A |
19: 34,596,846 (GRCm39) |
K257* |
probably null |
Het |
Ighv8-5 |
T |
A |
12: 115,031,207 (GRCm39) |
T111S |
possibly damaging |
Het |
Lmtk2 |
G |
T |
5: 144,103,205 (GRCm39) |
L321F |
probably damaging |
Het |
Mcoln2 |
C |
T |
3: 145,889,316 (GRCm39) |
T374M |
probably damaging |
Het |
Mfn1 |
T |
C |
3: 32,592,416 (GRCm39) |
|
probably benign |
Het |
Miox |
C |
T |
15: 89,220,477 (GRCm39) |
L189F |
possibly damaging |
Het |
Mroh8 |
T |
C |
2: 157,071,849 (GRCm39) |
H552R |
possibly damaging |
Het |
Myh2 |
T |
A |
11: 67,069,103 (GRCm39) |
L304Q |
probably damaging |
Het |
Prune1 |
T |
A |
3: 95,169,678 (GRCm39) |
T175S |
probably damaging |
Het |
Rdh10 |
C |
T |
1: 16,199,508 (GRCm39) |
T238I |
probably damaging |
Het |
Rlf |
T |
A |
4: 121,004,039 (GRCm39) |
H1647L |
possibly damaging |
Het |
Rreb1 |
C |
T |
13: 38,083,613 (GRCm39) |
T92M |
probably damaging |
Het |
Scn9a |
A |
T |
2: 66,392,788 (GRCm39) |
M268K |
probably damaging |
Het |
Sec16a |
A |
G |
2: 26,313,926 (GRCm39) |
V1893A |
probably benign |
Het |
Snd1 |
T |
A |
6: 28,745,209 (GRCm39) |
L518Q |
probably damaging |
Het |
Stat1 |
T |
A |
1: 52,179,819 (GRCm39) |
V343D |
probably damaging |
Het |
Tubd1 |
C |
T |
11: 86,440,221 (GRCm39) |
Q82* |
probably null |
Het |
Unc13c |
A |
G |
9: 73,576,847 (GRCm39) |
|
probably benign |
Het |
Wdr43 |
G |
T |
17: 71,960,487 (GRCm39) |
G590* |
probably null |
Het |
|
Other mutations in Topors |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01450:Topors
|
APN |
4 |
40,262,417 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01541:Topors
|
APN |
4 |
40,262,364 (GRCm39) |
missense |
possibly damaging |
0.70 |
IGL02093:Topors
|
APN |
4 |
40,261,467 (GRCm39) |
missense |
probably damaging |
0.98 |
R0483:Topors
|
UTSW |
4 |
40,261,952 (GRCm39) |
missense |
probably damaging |
0.96 |
R0645:Topors
|
UTSW |
4 |
40,260,333 (GRCm39) |
missense |
unknown |
|
R1413:Topors
|
UTSW |
4 |
40,261,982 (GRCm39) |
missense |
probably benign |
0.01 |
R1507:Topors
|
UTSW |
4 |
40,261,829 (GRCm39) |
missense |
probably damaging |
0.99 |
R1677:Topors
|
UTSW |
4 |
40,261,776 (GRCm39) |
missense |
probably damaging |
0.99 |
R1863:Topors
|
UTSW |
4 |
40,262,149 (GRCm39) |
nonsense |
probably null |
|
R1960:Topors
|
UTSW |
4 |
40,261,044 (GRCm39) |
missense |
unknown |
|
R2035:Topors
|
UTSW |
4 |
40,262,879 (GRCm39) |
missense |
probably damaging |
1.00 |
R2155:Topors
|
UTSW |
4 |
40,262,790 (GRCm39) |
missense |
possibly damaging |
0.72 |
R2519:Topors
|
UTSW |
4 |
40,261,714 (GRCm39) |
nonsense |
probably null |
|
R3035:Topors
|
UTSW |
4 |
40,269,673 (GRCm39) |
critical splice donor site |
probably null |
|
R3037:Topors
|
UTSW |
4 |
40,269,673 (GRCm39) |
critical splice donor site |
probably null |
|
R3842:Topors
|
UTSW |
4 |
40,262,123 (GRCm39) |
missense |
probably benign |
0.01 |
R4090:Topors
|
UTSW |
4 |
40,260,794 (GRCm39) |
missense |
unknown |
|
R4668:Topors
|
UTSW |
4 |
40,262,669 (GRCm39) |
missense |
probably damaging |
0.98 |
R4686:Topors
|
UTSW |
4 |
40,261,694 (GRCm39) |
missense |
probably benign |
0.03 |
R4694:Topors
|
UTSW |
4 |
40,261,442 (GRCm39) |
missense |
possibly damaging |
0.94 |
R4749:Topors
|
UTSW |
4 |
40,261,015 (GRCm39) |
missense |
unknown |
|
R5228:Topors
|
UTSW |
4 |
40,262,367 (GRCm39) |
missense |
probably damaging |
1.00 |
R5304:Topors
|
UTSW |
4 |
40,262,541 (GRCm39) |
missense |
possibly damaging |
0.50 |
R5725:Topors
|
UTSW |
4 |
40,261,952 (GRCm39) |
missense |
probably damaging |
0.96 |
R6617:Topors
|
UTSW |
4 |
40,261,896 (GRCm39) |
nonsense |
probably null |
|
R6699:Topors
|
UTSW |
4 |
40,262,300 (GRCm39) |
missense |
probably damaging |
0.97 |
R6869:Topors
|
UTSW |
4 |
40,261,201 (GRCm39) |
missense |
unknown |
|
R7103:Topors
|
UTSW |
4 |
40,261,706 (GRCm39) |
missense |
probably benign |
0.03 |
R7319:Topors
|
UTSW |
4 |
40,260,540 (GRCm39) |
missense |
unknown |
|
R7543:Topors
|
UTSW |
4 |
40,268,312 (GRCm39) |
missense |
probably damaging |
0.99 |
R7545:Topors
|
UTSW |
4 |
40,262,173 (GRCm39) |
missense |
possibly damaging |
0.91 |
R7559:Topors
|
UTSW |
4 |
40,261,401 (GRCm39) |
missense |
unknown |
|
R7748:Topors
|
UTSW |
4 |
40,262,654 (GRCm39) |
missense |
probably damaging |
1.00 |
R7899:Topors
|
UTSW |
4 |
40,260,356 (GRCm39) |
missense |
unknown |
|
R8045:Topors
|
UTSW |
4 |
40,261,988 (GRCm39) |
missense |
probably benign |
0.17 |
R8056:Topors
|
UTSW |
4 |
40,262,221 (GRCm39) |
missense |
probably benign |
0.30 |
R8221:Topors
|
UTSW |
4 |
40,260,686 (GRCm39) |
missense |
unknown |
|
R8846:Topors
|
UTSW |
4 |
40,262,952 (GRCm39) |
missense |
probably damaging |
0.98 |
R9001:Topors
|
UTSW |
4 |
40,261,696 (GRCm39) |
missense |
possibly damaging |
0.65 |
R9582:Topors
|
UTSW |
4 |
40,260,460 (GRCm39) |
missense |
unknown |
|
|
Posted On |
2013-03-25 |