Incidental Mutation 'R4090:Topors'
| ID |
317551 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Topors
|
| Ensembl Gene |
ENSMUSG00000036822 |
| Gene Name |
topoisomerase I binding, arginine/serine-rich |
| Synonyms |
|
| MMRRC Submission |
040983-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.484)
|
| Stock # |
R4090 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
40259601-40269850 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 40260794 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 830
(D830G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000046843
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000042575]
|
| AlphaFold |
Q80Z37 |
| Predicted Effect |
unknown
Transcript: ENSMUST00000042575
AA Change: D830G
|
| SMART Domains |
Protein: ENSMUSP00000046843
Gene: ENSMUSG00000036822
AA Change: D830G
| 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 |
0.0631 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.7%
|
| Validation Efficiency |
96% (53/55) |
| 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: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acss3 |
T |
G |
10: 106,889,313 (GRCm39) |
Y169S |
probably damaging |
Het |
| Apc2 |
A |
G |
10: 80,141,378 (GRCm39) |
K268E |
probably damaging |
Het |
| Arhgef2 |
G |
C |
3: 88,551,185 (GRCm39) |
R765P |
probably benign |
Het |
| Bptf |
T |
C |
11: 106,972,349 (GRCm39) |
K840E |
probably damaging |
Het |
| Carf |
A |
G |
1: 60,175,506 (GRCm39) |
R245G |
possibly damaging |
Het |
| Cd36 |
A |
G |
5: 17,990,718 (GRCm39) |
|
probably null |
Het |
| Cep250 |
G |
A |
2: 155,834,552 (GRCm39) |
R2159K |
probably damaging |
Het |
| Cldn34c4 |
A |
T |
X: 126,629,011 (GRCm39) |
V153E |
probably damaging |
Het |
| Col4a4 |
T |
A |
1: 82,501,643 (GRCm39) |
Y370F |
unknown |
Het |
| Cplane1 |
T |
A |
15: 8,241,842 (GRCm39) |
|
probably null |
Het |
| Ddx4 |
A |
G |
13: 112,750,295 (GRCm39) |
V386A |
probably benign |
Het |
| Exoc6 |
A |
G |
19: 37,560,360 (GRCm39) |
T126A |
probably benign |
Het |
| Fam83f |
A |
T |
15: 80,576,393 (GRCm39) |
N348I |
possibly damaging |
Het |
| Gja8 |
A |
G |
3: 96,826,468 (GRCm39) |
V398A |
probably benign |
Het |
| Gkn3 |
C |
T |
6: 87,360,507 (GRCm39) |
A163T |
probably damaging |
Het |
| Gm12789 |
A |
T |
4: 101,845,526 (GRCm39) |
T72S |
possibly damaging |
Het |
| Gm1988 |
A |
G |
7: 38,820,292 (GRCm39) |
|
noncoding transcript |
Het |
| Gm21370 |
A |
G |
13: 120,488,489 (GRCm39) |
V20A |
probably benign |
Het |
| Hjurp |
G |
C |
1: 88,204,937 (GRCm39) |
|
probably benign |
Het |
| Hsd17b13 |
T |
A |
5: 104,113,720 (GRCm39) |
S245C |
probably benign |
Het |
| Htr1f |
T |
C |
16: 64,746,324 (GRCm39) |
K323E |
probably benign |
Het |
| Igkc |
T |
C |
6: 70,703,442 (GRCm39) |
|
probably benign |
Het |
| Ksr1 |
T |
C |
11: 78,918,303 (GRCm39) |
E535G |
probably damaging |
Het |
| Mlxipl |
A |
T |
5: 135,161,381 (GRCm39) |
E433D |
probably benign |
Het |
| Npc1 |
T |
C |
18: 12,331,219 (GRCm39) |
|
probably null |
Het |
| Or10ak7 |
C |
T |
4: 118,791,230 (GRCm39) |
E272K |
probably benign |
Het |
| Or1e29 |
A |
G |
11: 73,667,667 (GRCm39) |
L162P |
probably damaging |
Het |
| Or6y1 |
A |
G |
1: 174,276,500 (GRCm39) |
T104A |
probably benign |
Het |
| Or7g17 |
T |
C |
9: 18,768,398 (GRCm39) |
I159T |
probably benign |
Het |
| Pcdha3 |
A |
G |
18: 37,081,504 (GRCm39) |
R749G |
probably benign |
Het |
| Ppme1 |
A |
T |
7: 99,997,044 (GRCm39) |
N122K |
possibly damaging |
Het |
| Rasal1 |
G |
A |
5: 120,813,674 (GRCm39) |
V657M |
possibly damaging |
Het |
| Rbm47 |
A |
G |
5: 66,180,080 (GRCm39) |
M409T |
probably benign |
Het |
| Rragd |
C |
T |
4: 33,007,155 (GRCm39) |
T161M |
probably damaging |
Het |
| Slurp1 |
T |
C |
15: 74,598,724 (GRCm39) |
H89R |
possibly damaging |
Het |
| Snap23 |
A |
G |
2: 120,416,061 (GRCm39) |
I42V |
probably benign |
Het |
| Sypl2 |
A |
G |
3: 108,124,992 (GRCm39) |
I123T |
possibly damaging |
Het |
| Taar8a |
T |
A |
10: 23,953,062 (GRCm39) |
V222E |
probably damaging |
Het |
| Tmem171 |
A |
T |
13: 98,829,096 (GRCm39) |
V18D |
probably damaging |
Het |
| Traf3ip3 |
A |
G |
1: 192,863,628 (GRCm39) |
V414A |
probably damaging |
Het |
| Tubg1 |
T |
A |
11: 101,015,364 (GRCm39) |
M270K |
possibly damaging |
Het |
| Vmn1r188 |
T |
C |
13: 22,272,772 (GRCm39) |
V242A |
probably benign |
Het |
| Vmn1r19 |
T |
A |
6: 57,381,720 (GRCm39) |
I91N |
probably damaging |
Het |
| Vmn2r12 |
T |
A |
5: 109,239,412 (GRCm39) |
M384L |
probably benign |
Het |
| Wdr26 |
T |
C |
1: 181,030,679 (GRCm39) |
E205G |
probably damaging |
Het |
| Zfp281 |
T |
A |
1: 136,553,859 (GRCm39) |
I279N |
probably damaging |
Het |
| Zfp398 |
T |
A |
6: 47,843,159 (GRCm39) |
C272S |
probably damaging |
Het |
| Zfp975 |
A |
G |
7: 42,312,298 (GRCm39) |
V105A |
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 |
|
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'- GACCGTGAAGTATTATCTCCATGG -3'
(R):5'- TACTATGAAAGGCGCCGGTC -3'
Sequencing Primer
(F):5'- GTGAAGTATTATCTCCATGGTGTTTC -3'
(R):5'- AGCGTGTCCAGTAACAGGTC -3'
|
| Posted On |
2015-05-15 |
Incidental Mutation