Incidental Mutation 'IGL00870:Toporsl'
| ID |
8470 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| 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 # |
IGL00870
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
4 |
| Chromosomal Location |
52596274-52612430 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 52610172 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 22
(S22P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000103298
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029995]
[ENSMUST00000107671]
|
| AlphaFold |
Q9D2F8 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000029995
AA Change: S22P
PolyPhen 2
Score 0.209 (Sensitivity: 0.92; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000029995
Gene: ENSMUSG00000028314
AA Change: S22P
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
256 |
263 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000107671
AA Change: S22P
PolyPhen 2
Score 0.209 (Sensitivity: 0.92; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000103298
Gene: ENSMUSG00000028314
AA Change: S22P
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
256 |
263 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ahnak |
T |
A |
19: 8,991,062 (GRCm39) |
D4115E |
probably damaging |
Het |
| Asb5 |
T |
C |
8: 55,036,695 (GRCm39) |
|
probably null |
Het |
| Cpeb3 |
A |
T |
19: 37,031,695 (GRCm39) |
I569N |
probably damaging |
Het |
| Cpsf7 |
T |
C |
19: 10,517,014 (GRCm39) |
|
probably null |
Het |
| Dlat |
A |
G |
9: 50,562,169 (GRCm39) |
L285P |
probably damaging |
Het |
| Dytn |
T |
C |
1: 63,716,272 (GRCm39) |
|
probably benign |
Het |
| Ears2 |
A |
T |
7: 121,654,899 (GRCm39) |
L123Q |
probably damaging |
Het |
| Gad2 |
T |
C |
2: 22,519,983 (GRCm39) |
V212A |
probably benign |
Het |
| Gon4l |
T |
C |
3: 88,764,492 (GRCm39) |
Y358H |
probably damaging |
Het |
| Gys1 |
T |
C |
7: 45,097,437 (GRCm39) |
|
probably null |
Het |
| Hnrnpm |
C |
A |
17: 33,868,876 (GRCm39) |
R517L |
probably damaging |
Het |
| Krtap20-2 |
G |
A |
16: 89,002,875 (GRCm39) |
G25D |
unknown |
Het |
| Lrif1 |
T |
C |
3: 106,641,957 (GRCm39) |
|
probably null |
Het |
| Naip2 |
A |
G |
13: 100,288,568 (GRCm39) |
|
probably benign |
Het |
| Or8b37 |
A |
T |
9: 37,959,036 (GRCm39) |
I173F |
probably damaging |
Het |
| Oxct1 |
T |
A |
15: 4,131,300 (GRCm39) |
L396Q |
probably damaging |
Het |
| Pclo |
A |
T |
5: 14,589,997 (GRCm39) |
R766W |
unknown |
Het |
| Pkhd1 |
T |
A |
1: 20,641,614 (GRCm39) |
I275F |
probably damaging |
Het |
| Rxfp3 |
A |
G |
15: 11,036,301 (GRCm39) |
F357S |
probably damaging |
Het |
| Rxfp3 |
A |
G |
15: 11,036,391 (GRCm39) |
V327A |
probably damaging |
Het |
| Serpinb2 |
A |
G |
1: 107,450,800 (GRCm39) |
I181V |
probably damaging |
Het |
| Smad5 |
A |
G |
13: 56,871,480 (GRCm39) |
D25G |
probably benign |
Het |
| Strada |
A |
G |
11: 106,062,083 (GRCm39) |
L82P |
probably damaging |
Het |
| Tek |
T |
A |
4: 94,761,318 (GRCm39) |
Y1079* |
probably null |
Het |
| Tenm3 |
T |
C |
8: 48,870,167 (GRCm39) |
T209A |
probably benign |
Het |
| Tnks1bp1 |
C |
T |
2: 84,892,580 (GRCm39) |
Q836* |
probably null |
Het |
| Ttc17 |
T |
C |
2: 94,202,078 (GRCm39) |
|
probably null |
Het |
| Ttc39a |
A |
G |
4: 109,299,542 (GRCm39) |
|
probably benign |
Het |
| Vangl1 |
T |
C |
3: 102,096,756 (GRCm39) |
D60G |
probably damaging |
Het |
| Vmn1r13 |
A |
T |
6: 57,187,098 (GRCm39) |
M86L |
probably benign |
Het |
| Vmn1r220 |
C |
T |
13: 23,368,647 (GRCm39) |
M16I |
probably null |
Het |
|
| Other mutations in Toporsl |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
R3905:Toporsl
|
UTSW |
4 |
52,611,750 (GRCm39) |
nonsense |
probably null |
|
|
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 |
|
| Posted On |
2012-12-06 |
Incidental Mutation