Incidental Mutation 'R3905:Toporsl'
| ID |
309134 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Toporsl
|
| Ensembl Gene |
ENSMUSG00000028314 |
| Gene Name |
topoisomerase I binding, arginine/serine-rich like |
| Synonyms |
4930547C10Rik |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R3905 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
52596274-52612430 bp(+) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
A to T
at 52611750 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Stop codon
at position 548
(R548*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000103298
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029995]
[ENSMUST00000107671]
|
| AlphaFold |
Q9D2F8 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000029995
AA Change: R548*
|
| SMART Domains |
Protein: ENSMUSP00000029995
Gene: ENSMUSG00000028314
AA Change: R548*
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
256 |
263 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000107671
AA Change: R548*
|
| SMART Domains |
Protein: ENSMUSP00000103298
Gene: ENSMUSG00000028314
AA Change: R548*
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
256 |
263 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 94.8%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca12 |
A |
T |
1: 71,307,389 (GRCm39) |
I1964N |
possibly damaging |
Het |
| Abca12 |
A |
G |
1: 71,318,616 (GRCm39) |
F1796L |
probably benign |
Het |
| Abca17 |
T |
A |
17: 24,515,257 (GRCm39) |
M821L |
probably benign |
Het |
| Adamts3 |
C |
A |
5: 90,009,214 (GRCm39) |
G150C |
probably damaging |
Het |
| Ap4b1 |
A |
T |
3: 103,726,209 (GRCm39) |
I262F |
possibly damaging |
Het |
| Atp1a1 |
T |
A |
3: 101,497,928 (GRCm39) |
E286D |
probably benign |
Het |
| Bard1 |
T |
C |
1: 71,106,339 (GRCm39) |
I429M |
possibly damaging |
Het |
| Bcl7c |
T |
C |
7: 127,266,155 (GRCm39) |
R198G |
possibly damaging |
Het |
| Cacna1s |
T |
A |
1: 136,012,007 (GRCm39) |
M483K |
probably damaging |
Het |
| Ccdc159 |
T |
A |
9: 21,845,815 (GRCm39) |
|
probably null |
Het |
| Cct7 |
A |
T |
6: 85,443,690 (GRCm39) |
I353F |
possibly damaging |
Het |
| Cfap57 |
A |
G |
4: 118,453,036 (GRCm39) |
Y556H |
probably damaging |
Het |
| Fat1 |
G |
C |
8: 45,476,072 (GRCm39) |
R1706T |
probably benign |
Het |
| Fn1 |
C |
T |
1: 71,647,072 (GRCm39) |
G1482R |
probably damaging |
Het |
| Gcat |
T |
C |
15: 78,927,531 (GRCm39) |
L324P |
possibly damaging |
Het |
| Hspa1a |
C |
T |
17: 35,190,703 (GRCm39) |
V67M |
probably damaging |
Het |
| Il22 |
C |
T |
10: 118,041,529 (GRCm39) |
R81* |
probably null |
Het |
| Impa1 |
T |
C |
3: 10,381,094 (GRCm39) |
T263A |
probably benign |
Het |
| Kif13a |
T |
C |
13: 46,956,166 (GRCm39) |
Y609C |
probably damaging |
Het |
| Kmt2e |
A |
G |
5: 23,706,624 (GRCm39) |
N1396D |
probably benign |
Het |
| Lrfn1 |
G |
A |
7: 28,166,294 (GRCm39) |
G563R |
possibly damaging |
Het |
| Mark1 |
A |
C |
1: 184,640,632 (GRCm39) |
|
probably null |
Het |
| Mxd1 |
G |
T |
6: 86,627,942 (GRCm39) |
Q199K |
probably benign |
Het |
| Myo3a |
T |
A |
2: 22,448,227 (GRCm39) |
Y1N |
probably damaging |
Het |
| Nek3 |
T |
C |
8: 22,623,107 (GRCm39) |
E309G |
probably benign |
Het |
| Or10h28 |
T |
C |
17: 33,487,749 (GRCm39) |
F17S |
probably damaging |
Het |
| Otoa |
A |
T |
7: 120,724,788 (GRCm39) |
Q489L |
probably damaging |
Het |
| Oxsr1 |
T |
C |
9: 119,076,178 (GRCm39) |
E376G |
probably benign |
Het |
| Piezo1 |
C |
T |
8: 123,208,882 (GRCm39) |
E2494K |
probably damaging |
Het |
| Pkd1l3 |
A |
G |
8: 110,373,511 (GRCm39) |
H1349R |
probably benign |
Het |
| Psmd2 |
A |
G |
16: 20,474,392 (GRCm39) |
D316G |
probably benign |
Het |
| Pwwp3a |
T |
C |
10: 80,074,150 (GRCm39) |
V401A |
probably damaging |
Het |
| Robo4 |
T |
A |
9: 37,314,801 (GRCm39) |
C218* |
probably null |
Het |
| Rxfp2 |
A |
T |
5: 149,979,450 (GRCm39) |
|
probably null |
Het |
| Slc10a1 |
A |
G |
12: 81,014,441 (GRCm39) |
I93T |
probably damaging |
Het |
| Tarbp1 |
C |
T |
8: 127,154,891 (GRCm39) |
R1411Q |
probably damaging |
Het |
| Tbl3 |
C |
T |
17: 24,921,006 (GRCm39) |
D563N |
probably damaging |
Het |
| Tec |
A |
G |
5: 72,917,705 (GRCm39) |
S505P |
probably damaging |
Het |
| Vmn1r39 |
G |
A |
6: 66,781,479 (GRCm39) |
Q243* |
probably null |
Het |
| Vmn2r9 |
C |
A |
5: 108,995,785 (GRCm39) |
A288S |
probably benign |
Het |
|
| Other mutations in Toporsl |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00870:Toporsl
|
APN |
4 |
52,610,172 (GRCm39) |
missense |
probably benign |
0.21 |
|
IGL01611:Toporsl
|
APN |
4 |
52,610,794 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02638:Toporsl
|
APN |
4 |
52,611,624 (GRCm39) |
missense |
probably benign |
0.39 |
|
IGL02642:Toporsl
|
APN |
4 |
52,611,114 (GRCm39) |
missense |
probably benign |
0.09 |
|
IGL03410:Toporsl
|
APN |
4 |
52,611,134 (GRCm39) |
missense |
probably benign |
0.07 |
|
torsion
|
UTSW |
4 |
52,610,489 (GRCm39) |
missense |
probably damaging |
1.00 |
|
wound
|
UTSW |
4 |
52,612,140 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
IGL03134:Toporsl
|
UTSW |
4 |
52,610,281 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R0548:Toporsl
|
UTSW |
4 |
52,612,140 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R1444:Toporsl
|
UTSW |
4 |
52,610,254 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2165:Toporsl
|
UTSW |
4 |
52,612,072 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
R2295:Toporsl
|
UTSW |
4 |
52,610,176 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R3410:Toporsl
|
UTSW |
4 |
52,610,970 (GRCm39) |
missense |
probably benign |
0.10 |
|
R4719:Toporsl
|
UTSW |
4 |
52,611,996 (GRCm39) |
missense |
probably benign |
0.21 |
|
R4782:Toporsl
|
UTSW |
4 |
52,610,845 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5642:Toporsl
|
UTSW |
4 |
52,611,515 (GRCm39) |
nonsense |
probably null |
|
|
R5724:Toporsl
|
UTSW |
4 |
52,611,346 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5728:Toporsl
|
UTSW |
4 |
52,611,469 (GRCm39) |
missense |
probably benign |
|
|
R6433:Toporsl
|
UTSW |
4 |
52,611,548 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R7023:Toporsl
|
UTSW |
4 |
52,611,211 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
R7292:Toporsl
|
UTSW |
4 |
52,611,630 (GRCm39) |
missense |
probably benign |
0.14 |
|
R7294:Toporsl
|
UTSW |
4 |
52,611,903 (GRCm39) |
missense |
probably benign |
0.03 |
|
R7408:Toporsl
|
UTSW |
4 |
52,612,108 (GRCm39) |
missense |
probably benign |
0.12 |
|
R7673:Toporsl
|
UTSW |
4 |
52,610,679 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7974:Toporsl
|
UTSW |
4 |
52,611,645 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8156:Toporsl
|
UTSW |
4 |
52,609,975 (GRCm39) |
start gained |
probably benign |
|
|
R8186:Toporsl
|
UTSW |
4 |
52,610,489 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8744:Toporsl
|
UTSW |
4 |
52,611,967 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9117:Toporsl
|
UTSW |
4 |
52,609,943 (GRCm39) |
start gained |
probably benign |
|
|
R9451:Toporsl
|
UTSW |
4 |
52,611,663 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R9512:Toporsl
|
UTSW |
4 |
52,610,382 (GRCm39) |
missense |
probably benign |
0.28 |
|
X0065:Toporsl
|
UTSW |
4 |
52,610,539 (GRCm39) |
missense |
probably damaging |
0.99 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGTCTCCGAAAATAGCACCTCTC -3'
(R):5'- TCACAATGTCCTCCAGTTTGAG -3'
Sequencing Primer
(F):5'- GCACCTCTCCTACTAGAAATGATAAG -3'
(R):5'- GAGATTCACCTTCACCCATGGATG -3'
|
| Posted On |
2015-04-17 |
Incidental Mutation