Incidental Mutation 'R3035:Topors'
| ID |
264813 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Topors
|
| Ensembl Gene |
ENSMUSG00000036822 |
| Gene Name |
topoisomerase I binding, arginine/serine-rich |
| Synonyms |
|
| MMRRC Submission |
040551-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.484)
|
| Stock # |
R3035 (G1)
|
| Quality Score |
119 |
|
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: 97.1%
- 20x: 94.4%
|
| 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: 19 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4932414N04Rik |
T |
A |
2: 68,575,762 (GRCm39) |
V687D |
probably benign |
Het |
| Ahctf1 |
T |
A |
1: 179,581,435 (GRCm39) |
Q1589L |
probably damaging |
Het |
| Apba2 |
T |
C |
7: 64,389,540 (GRCm39) |
S479P |
probably benign |
Het |
| C1galt1 |
A |
G |
6: 7,866,762 (GRCm39) |
K203E |
probably benign |
Het |
| Dennd5a |
A |
G |
7: 109,520,559 (GRCm39) |
S433P |
probably benign |
Het |
| Dock9 |
A |
G |
14: 121,844,249 (GRCm39) |
S1181P |
possibly damaging |
Het |
| Gsc2 |
A |
G |
16: 17,732,792 (GRCm39) |
S26P |
probably damaging |
Het |
| Hcn4 |
T |
C |
9: 58,730,963 (GRCm39) |
S57P |
unknown |
Het |
| Herc1 |
C |
A |
9: 66,391,217 (GRCm39) |
Q4007K |
possibly damaging |
Het |
| Ighv1-54 |
C |
A |
12: 115,157,597 (GRCm39) |
V17F |
probably damaging |
Het |
| Kctd12 |
T |
A |
14: 103,218,942 (GRCm39) |
E312V |
possibly damaging |
Het |
| Kdf1 |
A |
G |
4: 133,255,373 (GRCm39) |
N30S |
probably benign |
Het |
| Kif11 |
T |
A |
19: 37,395,501 (GRCm39) |
S587T |
possibly damaging |
Het |
| Mbl1 |
C |
A |
14: 40,880,790 (GRCm39) |
S226Y |
probably damaging |
Het |
| Mgam |
A |
G |
6: 40,640,464 (GRCm39) |
I511V |
probably benign |
Het |
| Rab36 |
G |
A |
10: 74,880,328 (GRCm39) |
V63I |
probably damaging |
Het |
| Rap1gap2 |
C |
A |
11: 74,298,148 (GRCm39) |
A491S |
possibly damaging |
Het |
| Serpinb9b |
T |
A |
13: 33,213,529 (GRCm39) |
C29S |
possibly damaging |
Het |
| Slc12a5 |
C |
A |
2: 164,822,178 (GRCm39) |
L343I |
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 |
|
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TTCCCTCTGCTGCCTGAAAG -3'
(R):5'- TCTAACACAGTGCAGCCCAG -3'
Sequencing Primer
(F):5'- CCTGAAAGGCGGGCTAGG -3'
(R):5'- AAAAGCGTGTCCTCCAGG -3'
|
| Posted On |
2015-02-05 |
Incidental Mutation