Incidental Mutation 'IGL03358:Tsr1'
ID |
420012 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Tsr1
|
Ensembl Gene |
ENSMUSG00000038335 |
Gene Name |
TSR1 20S rRNA accumulation |
Synonyms |
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.963)
|
Stock # |
IGL03358
|
Quality Score |
|
Status
|
|
Chromosome |
11 |
Chromosomal Location |
74788906-74800166 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 74794824 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 493
(V493A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000039027
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000045807]
[ENSMUST00000065211]
[ENSMUST00000108447]
[ENSMUST00000108448]
[ENSMUST00000121738]
[ENSMUST00000153316]
[ENSMUST00000155702]
[ENSMUST00000128230]
|
AlphaFold |
Q5SWD9 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000045807
AA Change: V493A
PolyPhen 2
Score 0.127 (Sensitivity: 0.93; Specificity: 0.86)
|
SMART Domains |
Protein: ENSMUSP00000039027 Gene: ENSMUSG00000038335 AA Change: V493A
Domain | Start | End | E-Value | Type |
low complexity region
|
16 |
25 |
N/A |
INTRINSIC |
AARP2CN
|
228 |
309 |
1.14e-28 |
SMART |
low complexity region
|
373 |
383 |
N/A |
INTRINSIC |
low complexity region
|
407 |
421 |
N/A |
INTRINSIC |
low complexity region
|
429 |
452 |
N/A |
INTRINSIC |
coiled coil region
|
453 |
478 |
N/A |
INTRINSIC |
DUF663
|
486 |
772 |
2.6e-179 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000065211
|
SMART Domains |
Protein: ENSMUSP00000067552 Gene: ENSMUSG00000001323
Domain | Start | End | E-Value | Type |
Pfam:PALP
|
19 |
314 |
3.3e-75 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000104305
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000104449
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000108447
|
SMART Domains |
Protein: ENSMUSP00000104086 Gene: ENSMUSG00000001323
Domain | Start | End | E-Value | Type |
Pfam:PALP
|
19 |
179 |
1.8e-41 |
PFAM |
Pfam:PALP
|
173 |
289 |
4.2e-19 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000108448
|
SMART Domains |
Protein: ENSMUSP00000104087 Gene: ENSMUSG00000001323
Domain | Start | End | E-Value | Type |
Pfam:PALP
|
19 |
314 |
2.1e-75 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000121738
|
SMART Domains |
Protein: ENSMUSP00000113372 Gene: ENSMUSG00000001323
Domain | Start | End | E-Value | Type |
Pfam:PALP
|
19 |
314 |
3.3e-75 |
PFAM |
|
Predicted Effect |
unknown
Transcript: ENSMUST00000153316
AA Change: V10A
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000130910
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000127499
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000144019
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000155785
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000155702
|
SMART Domains |
Protein: ENSMUSP00000119868 Gene: ENSMUSG00000038335
Domain | Start | End | E-Value | Type |
low complexity region
|
16 |
25 |
N/A |
INTRINSIC |
low complexity region
|
39 |
58 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000128230
|
SMART Domains |
Protein: ENSMUSP00000121384 Gene: ENSMUSG00000038335
Domain | Start | End | E-Value | Type |
low complexity region
|
16 |
25 |
N/A |
INTRINSIC |
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 24 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930453N24Rik |
T |
C |
16: 64,586,909 (GRCm39) |
I272V |
possibly damaging |
Het |
4930590J08Rik |
A |
G |
6: 91,905,716 (GRCm39) |
N496D |
probably damaging |
Het |
Adcy2 |
C |
T |
13: 68,877,396 (GRCm39) |
G448E |
probably damaging |
Het |
Alad |
G |
A |
4: 62,428,844 (GRCm39) |
|
probably benign |
Het |
Ank2 |
C |
A |
3: 126,749,519 (GRCm39) |
E503D |
probably damaging |
Het |
Appbp2 |
A |
T |
11: 85,100,860 (GRCm39) |
M193K |
probably benign |
Het |
Cd300a |
G |
A |
11: 114,788,623 (GRCm39) |
M204I |
possibly damaging |
Het |
Cep350 |
T |
A |
1: 155,804,285 (GRCm39) |
M933L |
probably benign |
Het |
Cyp2s1 |
T |
A |
7: 25,507,573 (GRCm39) |
N292I |
probably damaging |
Het |
Gnl2 |
T |
C |
4: 124,946,387 (GRCm39) |
I536T |
probably damaging |
Het |
Ift140 |
C |
T |
17: 25,306,958 (GRCm39) |
R898C |
probably damaging |
Het |
Oosp2 |
A |
T |
19: 11,628,933 (GRCm39) |
L56* |
probably null |
Het |
Pars2 |
A |
T |
4: 106,510,239 (GRCm39) |
H7L |
probably benign |
Het |
Pbx4 |
T |
C |
8: 70,311,761 (GRCm39) |
S59P |
probably benign |
Het |
Psg20 |
G |
T |
7: 18,414,891 (GRCm39) |
H332N |
probably benign |
Het |
Rigi |
T |
C |
4: 40,206,069 (GRCm39) |
E841G |
possibly damaging |
Het |
Slc6a13 |
G |
A |
6: 121,311,495 (GRCm39) |
V384I |
probably benign |
Het |
Spg21 |
G |
A |
9: 65,387,698 (GRCm39) |
V164I |
probably benign |
Het |
Tnc |
A |
T |
4: 63,935,852 (GRCm39) |
C361* |
probably null |
Het |
Ube2u |
A |
G |
4: 100,404,472 (GRCm39) |
|
probably benign |
Het |
Vav3 |
G |
A |
3: 109,554,989 (GRCm39) |
G79E |
probably damaging |
Het |
Vmn1r81 |
T |
G |
7: 11,994,232 (GRCm39) |
R125S |
possibly damaging |
Het |
Vmn2r45 |
A |
C |
7: 8,474,715 (GRCm39) |
L771R |
probably damaging |
Het |
Vps54 |
T |
A |
11: 21,218,799 (GRCm39) |
H119Q |
probably damaging |
Het |
|
Other mutations in Tsr1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL02568:Tsr1
|
APN |
11 |
74,791,204 (GRCm39) |
missense |
probably benign |
0.19 |
IGL02959:Tsr1
|
APN |
11 |
74,791,075 (GRCm39) |
missense |
probably benign |
0.00 |
IGL03230:Tsr1
|
APN |
11 |
74,791,297 (GRCm39) |
missense |
probably benign |
0.00 |
R0684:Tsr1
|
UTSW |
11 |
74,798,767 (GRCm39) |
missense |
probably damaging |
1.00 |
R1452:Tsr1
|
UTSW |
11 |
74,790,425 (GRCm39) |
missense |
probably benign |
0.21 |
R1484:Tsr1
|
UTSW |
11 |
74,792,914 (GRCm39) |
missense |
probably damaging |
1.00 |
R1831:Tsr1
|
UTSW |
11 |
74,791,182 (GRCm39) |
missense |
probably benign |
0.00 |
R2166:Tsr1
|
UTSW |
11 |
74,798,280 (GRCm39) |
splice site |
probably null |
|
R2185:Tsr1
|
UTSW |
11 |
74,792,906 (GRCm39) |
missense |
probably damaging |
1.00 |
R2273:Tsr1
|
UTSW |
11 |
74,795,653 (GRCm39) |
critical splice acceptor site |
probably null |
|
R2274:Tsr1
|
UTSW |
11 |
74,795,653 (GRCm39) |
critical splice acceptor site |
probably null |
|
R2275:Tsr1
|
UTSW |
11 |
74,795,653 (GRCm39) |
critical splice acceptor site |
probably null |
|
R2289:Tsr1
|
UTSW |
11 |
74,790,111 (GRCm39) |
missense |
probably damaging |
0.98 |
R3606:Tsr1
|
UTSW |
11 |
74,796,059 (GRCm39) |
missense |
probably benign |
0.01 |
R4928:Tsr1
|
UTSW |
11 |
74,798,705 (GRCm39) |
missense |
probably benign |
|
R5260:Tsr1
|
UTSW |
11 |
74,796,781 (GRCm39) |
missense |
probably damaging |
1.00 |
R6020:Tsr1
|
UTSW |
11 |
74,791,119 (GRCm39) |
splice site |
probably null |
|
R6743:Tsr1
|
UTSW |
11 |
74,799,177 (GRCm39) |
missense |
probably benign |
0.00 |
R7068:Tsr1
|
UTSW |
11 |
74,794,745 (GRCm39) |
nonsense |
probably null |
|
R7117:Tsr1
|
UTSW |
11 |
74,790,360 (GRCm39) |
missense |
probably benign |
|
R7868:Tsr1
|
UTSW |
11 |
74,791,158 (GRCm39) |
missense |
possibly damaging |
0.66 |
R8392:Tsr1
|
UTSW |
11 |
74,791,096 (GRCm39) |
missense |
probably benign |
0.40 |
R8734:Tsr1
|
UTSW |
11 |
74,794,652 (GRCm39) |
missense |
probably benign |
|
R8767:Tsr1
|
UTSW |
11 |
74,799,149 (GRCm39) |
missense |
probably damaging |
0.96 |
R8904:Tsr1
|
UTSW |
11 |
74,790,217 (GRCm39) |
nonsense |
probably null |
|
R9261:Tsr1
|
UTSW |
11 |
74,799,056 (GRCm39) |
missense |
probably damaging |
1.00 |
R9295:Tsr1
|
UTSW |
11 |
74,799,135 (GRCm39) |
missense |
probably damaging |
1.00 |
R9345:Tsr1
|
UTSW |
11 |
74,790,126 (GRCm39) |
missense |
probably benign |
0.03 |
R9802:Tsr1
|
UTSW |
11 |
74,799,225 (GRCm39) |
missense |
possibly damaging |
0.54 |
X0010:Tsr1
|
UTSW |
11 |
74,794,700 (GRCm39) |
missense |
possibly damaging |
0.78 |
X0026:Tsr1
|
UTSW |
11 |
74,791,053 (GRCm39) |
missense |
probably benign |
0.04 |
|
Posted On |
2016-08-02 |