Incidental Mutation 'R8186:Toporsl'
| ID |
634853 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Toporsl
|
| Ensembl Gene |
ENSMUSG00000028314 |
| Gene Name |
topoisomerase I binding, arginine/serine-rich like |
| Synonyms |
4930547C10Rik |
| MMRRC Submission |
067609-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8186 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
52596274-52612430 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 52610489 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Leucine
at position 127
(F127L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000029995
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029995]
[ENSMUST00000107671]
|
| AlphaFold |
Q9D2F8 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000029995
AA Change: F127L
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000029995
Gene: ENSMUSG00000028314
AA Change: F127L
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
256 |
263 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000107671
AA Change: F127L
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000103298
Gene: ENSMUSG00000028314
AA Change: F127L
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
256 |
263 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.6329 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.6%
|
| Validation Efficiency |
100% (43/43) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Add2 |
G |
A |
6: 86,085,002 (GRCm39) |
V543M |
probably benign |
Het |
| Agl |
A |
G |
3: 116,552,557 (GRCm39) |
I459T |
possibly damaging |
Het |
| Arhgap45 |
G |
A |
10: 79,863,706 (GRCm39) |
A819T |
probably damaging |
Het |
| Atg16l2 |
C |
T |
7: 100,945,714 (GRCm39) |
|
probably null |
Het |
| Bltp2 |
A |
G |
11: 78,177,457 (GRCm39) |
T1921A |
probably damaging |
Het |
| C130073F10Rik |
G |
A |
4: 101,748,031 (GRCm39) |
R48* |
probably null |
Het |
| Cdc25b |
C |
T |
2: 131,031,050 (GRCm39) |
T125M |
probably benign |
Het |
| Cdc42bpg |
T |
A |
19: 6,356,895 (GRCm39) |
F50L |
probably damaging |
Het |
| Chd9 |
T |
A |
8: 91,725,233 (GRCm39) |
D1187E |
unknown |
Het |
| Col4a2 |
T |
C |
8: 11,475,542 (GRCm39) |
|
probably null |
Het |
| Cped1 |
T |
C |
6: 22,123,587 (GRCm39) |
S447P |
probably benign |
Het |
| Ddx19a |
T |
A |
8: 111,710,274 (GRCm39) |
M109L |
probably benign |
Het |
| Def8 |
C |
A |
8: 124,188,215 (GRCm39) |
Y431* |
probably null |
Het |
| Gata4 |
A |
G |
14: 63,438,962 (GRCm39) |
S373P |
probably benign |
Het |
| Gm9837 |
A |
T |
11: 53,361,136 (GRCm39) |
L26* |
probably null |
Het |
| Hspa1b |
A |
T |
17: 35,176,557 (GRCm39) |
V476E |
probably damaging |
Het |
| Htr5b |
G |
A |
1: 121,456,108 (GRCm39) |
|
probably benign |
Het |
| Hydin |
T |
C |
8: 111,336,277 (GRCm39) |
V5018A |
probably benign |
Het |
| Ighv1-85 |
A |
G |
12: 115,963,923 (GRCm39) |
S26P |
probably benign |
Het |
| Kics2 |
T |
A |
10: 121,581,247 (GRCm39) |
F83I |
possibly damaging |
Het |
| Lrrc2 |
A |
G |
9: 110,789,910 (GRCm39) |
K56E |
possibly damaging |
Het |
| Macf1 |
A |
T |
4: 123,266,219 (GRCm39) |
I6793N |
probably damaging |
Het |
| Macf1 |
A |
C |
4: 123,275,923 (GRCm39) |
V6215G |
possibly damaging |
Het |
| Nbeal1 |
G |
C |
1: 60,276,310 (GRCm39) |
V684L |
probably benign |
Het |
| Nfxl1 |
A |
G |
5: 72,716,355 (GRCm39) |
|
probably null |
Het |
| Odad4 |
A |
G |
11: 100,454,505 (GRCm39) |
D430G |
probably benign |
Het |
| Oprk1 |
A |
T |
1: 5,672,540 (GRCm39) |
M226L |
probably benign |
Het |
| Or1e1 |
T |
C |
11: 73,245,247 (GRCm39) |
S223P |
possibly damaging |
Het |
| Phf2 |
A |
G |
13: 48,961,227 (GRCm39) |
L821P |
unknown |
Het |
| Rdh7 |
C |
A |
10: 127,723,284 (GRCm39) |
|
probably null |
Het |
| Rpl11 |
A |
G |
4: 135,778,968 (GRCm39) |
V74A |
possibly damaging |
Het |
| Safb2 |
G |
A |
17: 56,873,051 (GRCm39) |
R790C |
possibly damaging |
Het |
| Sgpp2 |
T |
C |
1: 78,393,609 (GRCm39) |
F204S |
probably benign |
Het |
| Sgsm3 |
A |
C |
15: 80,893,643 (GRCm39) |
I426L |
possibly damaging |
Het |
| Speer1b |
A |
G |
5: 11,823,926 (GRCm39) |
D158G |
probably damaging |
Het |
| Styxl2 |
A |
G |
1: 165,927,648 (GRCm39) |
S655P |
probably damaging |
Het |
| Tbccd1 |
A |
G |
16: 22,637,189 (GRCm39) |
L545P |
probably damaging |
Het |
| Ttn |
T |
G |
2: 76,749,256 (GRCm39) |
Q3931P |
probably damaging |
Het |
| Tuba1c |
C |
A |
15: 98,935,396 (GRCm39) |
L286I |
probably benign |
Het |
| Usp48 |
A |
G |
4: 137,348,507 (GRCm39) |
R528G |
possibly damaging |
Het |
| Utrn |
T |
C |
10: 12,573,867 (GRCm39) |
T1068A |
probably benign |
Het |
| Vmn2r103 |
A |
T |
17: 20,032,205 (GRCm39) |
T660S |
probably damaging |
Het |
| Vmn2r105 |
G |
T |
17: 20,444,880 (GRCm39) |
Y537* |
probably null |
Het |
| Vmn2r88 |
A |
T |
14: 51,656,157 (GRCm39) |
I744F |
|
Het |
| Wnt9b |
T |
C |
11: 103,621,601 (GRCm39) |
E352G |
probably damaging |
Het |
| Zfp78 |
A |
G |
7: 6,376,228 (GRCm39) |
N46D |
probably damaging |
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 |
|
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 |
|
|
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'- ACGTTTCTCGCTTCAGAGG -3'
(R):5'- TCGTCATGTGATGGAGAATGGC -3'
Sequencing Primer
(F):5'- TCTCGCTTCAGAGGAGGAAAGTTC -3'
(R):5'- TGTGTAACCATAGTCTCCACAG -3'
|
| Posted On |
2020-07-13 |
Incidental Mutation