Incidental Mutation 'R3037:Topors'
| ID |
264838 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Topors
|
| Ensembl Gene |
ENSMUSG00000036822 |
| Gene Name |
topoisomerase I binding, arginine/serine-rich |
| Synonyms |
|
| MMRRC Submission |
040553-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.614)
|
| Stock # |
R3037 (G1)
|
| Quality Score |
143 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
40259601-40269850 bp(-) (GRCm39) |
| Type of Mutation |
critical splice donor site (1 bp from exon) |
| DNA Base Change (assembly) |
C to T
at 40269673 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000046843
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000042575]
[ENSMUST00000042575]
[ENSMUST00000042575]
[ENSMUST00000095128]
[ENSMUST00000108108]
[ENSMUST00000129758]
|
| AlphaFold |
Q80Z37 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000042575
|
| SMART Domains |
Protein: ENSMUSP00000046843
Gene: ENSMUSG00000036822
| 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 |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000042575
|
| SMART Domains |
Protein: ENSMUSP00000046843
Gene: ENSMUSG00000036822
| 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 |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000042575
|
| SMART Domains |
Protein: ENSMUSP00000046843
Gene: ENSMUSG00000036822
| 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 |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000095128
|
| SMART Domains |
Protein: ENSMUSP00000092746
Gene: ENSMUSG00000071014
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:NDUF_B6
|
1 |
128 |
2e-52 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000108108
|
| SMART Domains |
Protein: ENSMUSP00000103743
Gene: ENSMUSG00000071014
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:NDUF_B6
|
1 |
62 |
1.5e-22 |
PFAM |
|
Pfam:NDUF_B6
|
55 |
97 |
3.7e-13 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000129758
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000207780
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 94.8%
|
| Validation Efficiency |
|
| 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: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ap3b1 |
T |
C |
13: 94,582,486 (GRCm39) |
|
probably null |
Het |
| Bco1 |
A |
G |
8: 117,854,278 (GRCm39) |
Y401C |
probably benign |
Het |
| Bod1l |
A |
T |
5: 41,979,380 (GRCm39) |
S645T |
probably damaging |
Het |
| Cat |
A |
G |
2: 103,298,122 (GRCm39) |
Y274H |
probably benign |
Het |
| Cdh19 |
C |
A |
1: 110,882,337 (GRCm39) |
V52F |
probably damaging |
Het |
| Cntnap2 |
G |
A |
6: 45,992,200 (GRCm39) |
V376I |
possibly damaging |
Het |
| Dll3 |
A |
G |
7: 27,998,542 (GRCm39) |
L141P |
probably damaging |
Het |
| Ets2 |
C |
A |
16: 95,517,109 (GRCm39) |
N280K |
probably benign |
Het |
| Fam186a |
G |
T |
15: 99,841,675 (GRCm39) |
P1523Q |
probably damaging |
Het |
| Fcgbp |
A |
G |
7: 27,802,127 (GRCm39) |
I1352V |
possibly damaging |
Het |
| Fcsk |
A |
T |
8: 111,621,350 (GRCm39) |
|
probably null |
Het |
| Gng11 |
A |
G |
6: 4,008,051 (GRCm39) |
E38G |
probably benign |
Het |
| Gsdmc2 |
A |
T |
15: 63,705,180 (GRCm39) |
F178I |
probably benign |
Het |
| Il11ra1 |
T |
A |
4: 41,765,074 (GRCm39) |
S133R |
possibly damaging |
Het |
| Kcnab2 |
T |
A |
4: 152,478,213 (GRCm39) |
I349F |
possibly damaging |
Het |
| Kctd10 |
A |
G |
5: 114,513,061 (GRCm39) |
V38A |
probably damaging |
Het |
| Lrig3 |
A |
G |
10: 125,845,901 (GRCm39) |
R777G |
probably damaging |
Het |
| Naip2 |
A |
C |
13: 100,291,457 (GRCm39) |
D1160E |
probably benign |
Het |
| Nanog |
C |
A |
6: 122,690,227 (GRCm39) |
Q186K |
possibly damaging |
Het |
| Nlrc3 |
T |
C |
16: 3,770,272 (GRCm39) |
N249S |
probably damaging |
Het |
| Nup214 |
A |
T |
2: 31,866,632 (GRCm39) |
T56S |
probably benign |
Het |
| Or8k41 |
A |
T |
2: 86,313,987 (GRCm39) |
I33N |
probably damaging |
Het |
| Pcdhb1 |
T |
G |
18: 37,398,166 (GRCm39) |
M39R |
probably damaging |
Het |
| Pced1a |
A |
C |
2: 130,261,779 (GRCm39) |
D291E |
probably benign |
Het |
| Pdia6 |
C |
T |
12: 17,329,646 (GRCm39) |
R261W |
probably damaging |
Het |
| Pdlim4 |
C |
A |
11: 53,947,083 (GRCm39) |
G72V |
probably benign |
Het |
| Plce1 |
G |
A |
19: 38,766,328 (GRCm39) |
D2104N |
probably damaging |
Het |
| Ptprk |
T |
C |
10: 28,456,474 (GRCm39) |
L7P |
probably damaging |
Het |
| Rad21l |
A |
T |
2: 151,502,700 (GRCm39) |
F170Y |
probably damaging |
Het |
| Scaf1 |
T |
C |
7: 44,656,771 (GRCm39) |
|
probably benign |
Het |
| Trpm5 |
G |
A |
7: 142,639,200 (GRCm39) |
T239I |
probably benign |
Het |
| Tspan5 |
G |
A |
3: 138,604,116 (GRCm39) |
G167D |
probably damaging |
Het |
| Ttyh3 |
C |
A |
5: 140,634,597 (GRCm39) |
|
probably benign |
Het |
| Usp15 |
C |
A |
10: 122,999,522 (GRCm39) |
W220L |
probably damaging |
Het |
| Vmn2r77 |
A |
T |
7: 86,450,191 (GRCm39) |
I146L |
probably benign |
Het |
| Ythdf3 |
T |
C |
3: 16,259,355 (GRCm39) |
F501L |
probably benign |
Het |
| Zc3h4 |
A |
G |
7: 16,155,410 (GRCm39) |
D241G |
unknown |
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 |
|
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- ATTCCCTCTGCTGCCTGAAAG -3'
(R):5'- TAACACAGTGCAGCCCAGAG -3'
Sequencing Primer
(F):5'- CCTGAAAGGCGGGCTAGG -3'
(R):5'- AAAAGCGTGTCCTCCAGG -3'
|
| Posted On |
2015-02-05 |
Incidental Mutation