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 |
Incidental Mutation