Incidental Mutation 'R6699:Topors'
| ID |
528677 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Topors
|
| Ensembl Gene |
ENSMUSG00000036822 |
| Gene Name |
topoisomerase I binding, arginine/serine-rich |
| Synonyms |
|
| MMRRC Submission |
044817-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.614)
|
| Stock # |
R6699 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
40259601-40269850 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 40262300 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 328
(V328A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000046843
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000042575]
|
| AlphaFold |
Q80Z37 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000042575
AA Change: V328A
PolyPhen 2
Score 0.969 (Sensitivity: 0.77; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000046843
Gene: ENSMUSG00000036822
AA Change: V328A
| 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 |
0.1439 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.2%
- 20x: 95.1%
|
| Validation Efficiency |
100% (35/35) |
| 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 |
|---|
| Adam39 |
A |
G |
8: 41,279,694 (GRCm39) |
K695R |
probably benign |
Het |
| Agfg1 |
G |
A |
1: 82,836,175 (GRCm39) |
|
probably null |
Het |
| Ankrd44 |
G |
A |
1: 54,801,604 (GRCm39) |
T241I |
probably damaging |
Het |
| Car15 |
T |
C |
16: 17,654,438 (GRCm39) |
D166G |
probably null |
Het |
| Cpne2 |
G |
A |
8: 95,290,587 (GRCm39) |
V391M |
probably damaging |
Het |
| Ddx27 |
C |
T |
2: 166,862,423 (GRCm39) |
T155I |
possibly damaging |
Het |
| F830045P16Rik |
T |
C |
2: 129,302,341 (GRCm39) |
D417G |
probably damaging |
Het |
| Fam217b |
T |
G |
2: 178,062,210 (GRCm39) |
M58R |
probably benign |
Het |
| Fcgbpl1 |
A |
G |
7: 27,843,793 (GRCm39) |
T894A |
probably damaging |
Het |
| Ftmt |
T |
C |
18: 52,464,737 (GRCm39) |
S18P |
possibly damaging |
Het |
| Gm16494 |
C |
T |
17: 47,327,834 (GRCm39) |
V17M |
probably damaging |
Het |
| Gm36864 |
A |
T |
7: 43,888,196 (GRCm39) |
I342F |
possibly damaging |
Het |
| Grid2 |
C |
G |
6: 63,908,031 (GRCm39) |
R224G |
possibly damaging |
Het |
| H4c12 |
A |
T |
13: 21,934,674 (GRCm39) |
M1K |
probably null |
Het |
| Hmgcr |
T |
C |
13: 96,796,717 (GRCm39) |
E191G |
probably damaging |
Het |
| Hrc |
A |
G |
7: 44,985,119 (GRCm39) |
D90G |
possibly damaging |
Het |
| Kbtbd7 |
A |
G |
14: 79,665,632 (GRCm39) |
E488G |
probably benign |
Het |
| Krtap26-1 |
T |
C |
16: 88,444,603 (GRCm39) |
N6S |
unknown |
Het |
| Mgat2 |
A |
G |
12: 69,231,555 (GRCm39) |
D43G |
probably damaging |
Het |
| Mrps30 |
A |
T |
13: 118,517,134 (GRCm39) |
S362T |
probably damaging |
Het |
| Or10ag58 |
A |
T |
2: 87,265,160 (GRCm39) |
I110F |
probably benign |
Het |
| Or2t43 |
T |
A |
11: 58,458,031 (GRCm39) |
I47L |
possibly damaging |
Het |
| Pcdhb11 |
T |
A |
18: 37,555,990 (GRCm39) |
V440E |
probably damaging |
Het |
| Pcdhb18 |
T |
A |
18: 37,625,005 (GRCm39) |
H778Q |
probably benign |
Het |
| Plekha7 |
T |
C |
7: 115,734,410 (GRCm39) |
E1025G |
probably damaging |
Het |
| Rnf39 |
T |
C |
17: 37,258,121 (GRCm39) |
W96R |
probably damaging |
Het |
| Rph3al |
A |
T |
11: 75,791,663 (GRCm39) |
|
probably benign |
Het |
| Rrm1 |
T |
A |
7: 102,110,032 (GRCm39) |
Y556N |
probably damaging |
Het |
| Saal1 |
A |
T |
7: 46,342,241 (GRCm39) |
C401S |
probably damaging |
Het |
| Sec14l3 |
T |
C |
11: 4,025,193 (GRCm39) |
S268P |
possibly damaging |
Het |
| Tmem54 |
A |
G |
4: 129,005,118 (GRCm39) |
I199M |
probably benign |
Het |
| Tomm70a |
A |
G |
16: 56,963,165 (GRCm39) |
M395V |
probably benign |
Het |
| Vmn2r61 |
T |
G |
7: 41,949,580 (GRCm39) |
S667A |
probably benign |
Het |
| Vmn2r68 |
G |
A |
7: 84,881,583 (GRCm39) |
A499V |
possibly damaging |
Het |
| Zcchc14 |
A |
T |
8: 122,335,355 (GRCm39) |
|
probably benign |
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 |
|
|
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 |
|
|
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'- TGACTGAAGAATCTGAACGGC -3'
(R):5'- TTCAGGCGAACTCTTTATCGTG -3'
Sequencing Primer
(F):5'- GAAGAATCTGAACGGCTGCCTTC -3'
(R):5'- CGAACTCTTTATCGTGCTGGTG -3'
|
| Posted On |
2018-07-24 |
Incidental Mutation