Incidental Mutation 'R3606:Tsr1'
ID |
269093 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Tsr1
|
Ensembl Gene |
ENSMUSG00000038335 |
Gene Name |
TSR1 20S rRNA accumulation |
Synonyms |
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.963)
|
Stock # |
R3606 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
11 |
Chromosomal Location |
74788906-74800166 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 74796059 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Proline
at position 562
(S562P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000039027
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000045807]
[ENSMUST00000065211]
[ENSMUST00000108447]
[ENSMUST00000108448]
[ENSMUST00000121738]
[ENSMUST00000153316]
[ENSMUST00000123855]
[ENSMUST00000128556]
[ENSMUST00000128230]
[ENSMUST00000155702]
|
AlphaFold |
Q5SWD9 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000045807
AA Change: S562P
PolyPhen 2
Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
|
SMART Domains |
Protein: ENSMUSP00000039027 Gene: ENSMUSG00000038335 AA Change: S562P
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 |
noncoding transcript
Transcript: ENSMUST00000130910
|
Predicted Effect |
silent
Transcript: ENSMUST00000153316
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000144019
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000127499
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000155785
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000123855
|
SMART Domains |
Protein: ENSMUSP00000118485 Gene: ENSMUSG00000001323
Domain | Start | End | E-Value | Type |
Pfam:PALP
|
19 |
166 |
1.5e-39 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000128556
|
SMART Domains |
Protein: ENSMUSP00000120012 Gene: ENSMUSG00000001323
Domain | Start | End | E-Value | Type |
Pfam:PALP
|
19 |
182 |
2.6e-44 |
PFAM |
|
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 |
|
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 |
|
Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.6%
- 10x: 97.0%
- 20x: 93.8%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 20 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Arid4b |
T |
C |
13: 14,294,826 (GRCm39) |
V36A |
probably damaging |
Het |
Cd101 |
A |
T |
3: 100,927,913 (GRCm39) |
I56N |
probably damaging |
Het |
Cs |
A |
T |
10: 128,195,892 (GRCm39) |
H367L |
probably benign |
Het |
Ddb1 |
A |
G |
19: 10,605,857 (GRCm39) |
E1095G |
probably damaging |
Het |
Fgfrl1 |
C |
A |
5: 108,853,289 (GRCm39) |
T213K |
probably damaging |
Het |
Ift70a1 |
T |
C |
2: 75,811,621 (GRCm39) |
D154G |
probably benign |
Het |
Kprp |
C |
A |
3: 92,731,588 (GRCm39) |
Q487H |
unknown |
Het |
Myom2 |
T |
C |
8: 15,119,775 (GRCm39) |
V177A |
probably damaging |
Het |
Nelfcd |
A |
G |
2: 174,268,337 (GRCm39) |
Y525C |
probably benign |
Het |
Or2t49 |
C |
T |
11: 58,392,957 (GRCm39) |
V148M |
possibly damaging |
Het |
Or5i1 |
C |
A |
2: 87,613,551 (GRCm39) |
F222L |
probably benign |
Het |
Pcdhgc5 |
A |
G |
18: 37,953,560 (GRCm39) |
D278G |
probably benign |
Het |
Peg3 |
T |
C |
7: 6,711,508 (GRCm39) |
E1238G |
probably damaging |
Het |
Plekha7 |
T |
C |
7: 115,763,477 (GRCm39) |
D313G |
possibly damaging |
Het |
Ppp1r9a |
A |
G |
6: 5,113,674 (GRCm39) |
N726S |
possibly damaging |
Het |
Psmd3 |
C |
T |
11: 98,581,780 (GRCm39) |
R302W |
probably damaging |
Het |
Ptbp2 |
A |
G |
3: 119,541,281 (GRCm39) |
L223P |
probably damaging |
Het |
Ranbp10 |
A |
G |
8: 106,502,667 (GRCm39) |
S300P |
probably benign |
Het |
Rundc3b |
A |
T |
5: 8,562,386 (GRCm39) |
D327E |
probably damaging |
Het |
Ube3c |
A |
G |
5: 29,803,936 (GRCm39) |
T180A |
possibly 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 |
IGL03358:Tsr1
|
APN |
11 |
74,794,824 (GRCm39) |
missense |
probably benign |
0.13 |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- GCAGTCAGAGATGAGTAGCC -3'
(R):5'- TCAGACATCTTGGGCATGACC -3'
Sequencing Primer
(F):5'- TGAGTAGCCGAGGTTGAATC -3'
(R):5'- TGGGCATGACCATCATTGAC -3'
|
Posted On |
2015-02-19 |