Incidental Mutation 'R3842:Topors'
ID |
277195 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Topors
|
Ensembl Gene |
ENSMUSG00000036822 |
Gene Name |
topoisomerase I binding, arginine/serine-rich |
Synonyms |
|
MMRRC Submission |
040782-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.484)
|
Stock # |
R3842 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
4 |
Chromosomal Location |
40259601-40269850 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 40262123 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Histidine
at position 387
(R387H)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000046843
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000042575]
|
AlphaFold |
Q80Z37 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000042575
AA Change: R387H
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
SMART Domains |
Protein: ENSMUSP00000046843 Gene: ENSMUSG00000036822 AA Change: R387H
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 |
0.0898 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 94.7%
|
Validation Efficiency |
100% (37/37) |
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: 35 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acox2 |
C |
T |
14: 8,251,543 (GRCm38) |
R318H |
probably damaging |
Het |
Adamts16 |
T |
C |
13: 70,887,010 (GRCm39) |
Y958C |
possibly damaging |
Het |
Apol7e |
A |
G |
15: 77,601,789 (GRCm39) |
E129G |
probably damaging |
Het |
Bmp2k |
A |
G |
5: 97,235,010 (GRCm39) |
|
probably benign |
Het |
Camk2g |
T |
C |
14: 20,814,966 (GRCm39) |
H26R |
probably damaging |
Het |
Cpn2 |
A |
G |
16: 30,079,336 (GRCm39) |
S122P |
probably damaging |
Het |
Dhcr24 |
G |
T |
4: 106,443,002 (GRCm39) |
G346C |
probably damaging |
Het |
Egf |
G |
A |
3: 129,491,442 (GRCm39) |
R351* |
probably null |
Het |
Exosc10 |
T |
A |
4: 148,648,322 (GRCm39) |
Y260* |
probably null |
Het |
Fabp3 |
C |
T |
4: 130,206,180 (GRCm39) |
T57I |
probably benign |
Het |
Fam83h |
C |
T |
15: 75,874,499 (GRCm39) |
R946K |
probably benign |
Het |
Fbxo30 |
A |
G |
10: 11,165,856 (GRCm39) |
S193G |
probably damaging |
Het |
Grik3 |
T |
C |
4: 125,587,747 (GRCm39) |
|
probably benign |
Het |
Gtf3c6 |
A |
T |
10: 40,130,317 (GRCm39) |
|
probably null |
Het |
Hivep1 |
T |
C |
13: 42,311,203 (GRCm39) |
S1148P |
probably benign |
Het |
Hmgb2 |
T |
A |
8: 57,966,388 (GRCm39) |
S121T |
probably benign |
Het |
Hyal2 |
T |
C |
9: 107,449,320 (GRCm39) |
S359P |
probably damaging |
Het |
Itgbl1 |
A |
G |
14: 124,077,977 (GRCm39) |
T156A |
possibly damaging |
Het |
Lrrk2 |
C |
A |
15: 91,640,119 (GRCm39) |
Q1555K |
probably benign |
Het |
Myom1 |
T |
C |
17: 71,352,619 (GRCm39) |
V349A |
probably damaging |
Het |
Naa40 |
A |
T |
19: 7,207,174 (GRCm39) |
|
probably benign |
Het |
Ncam2 |
A |
G |
16: 81,231,698 (GRCm39) |
Y54C |
probably damaging |
Het |
Nemf |
C |
T |
12: 69,378,723 (GRCm39) |
S533N |
probably damaging |
Het |
Nkain1 |
T |
A |
4: 130,537,296 (GRCm38) |
I80F |
probably damaging |
Het |
Or10ak12 |
A |
G |
4: 118,666,452 (GRCm39) |
V203A |
probably damaging |
Het |
Or2ag13 |
G |
A |
7: 106,473,302 (GRCm39) |
T50I |
probably benign |
Het |
Or9k2 |
G |
A |
10: 129,998,770 (GRCm39) |
R142C |
probably benign |
Het |
Pde3b |
T |
C |
7: 114,126,102 (GRCm39) |
S779P |
probably damaging |
Het |
Prkar2a |
A |
G |
9: 108,605,467 (GRCm39) |
Y175C |
probably damaging |
Het |
Slc44a5 |
T |
C |
3: 153,967,031 (GRCm39) |
|
probably benign |
Het |
Smgc |
T |
A |
15: 91,744,460 (GRCm39) |
|
probably benign |
Het |
Tasp1 |
T |
A |
2: 139,793,421 (GRCm39) |
S252C |
probably damaging |
Het |
Tgfbrap1 |
A |
T |
1: 43,098,314 (GRCm39) |
Y489N |
probably damaging |
Het |
Ttn |
A |
G |
2: 76,619,963 (GRCm39) |
S15902P |
probably damaging |
Het |
Ttn |
T |
C |
2: 76,680,647 (GRCm39) |
|
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 |
R0039:Topors
|
UTSW |
4 |
40,262,772 (GRCm39) |
missense |
probably damaging |
1.00 |
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 |
|
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 |
|
|
Predicted Primers |
PCR Primer
(F):5'- GACAAGCTCTTCATCTGAACTGTC -3'
(R):5'- TATCGTCCAGCACATCATCATG -3'
Sequencing Primer
(F):5'- AGCTCTTCATCTGAACTGTCTGAAG -3'
(R):5'- GTCCAGCACATCATCATGAGTAATG -3'
|
Posted On |
2015-04-06 |