Incidental Mutation 'R6743:Tsr1'
ID |
532748 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Tsr1
|
Ensembl Gene |
ENSMUSG00000038335 |
Gene Name |
TSR1 20S rRNA accumulation |
Synonyms |
|
MMRRC Submission |
044860-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.963)
|
Stock # |
R6743 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
11 |
Chromosomal Location |
74788906-74800166 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 74799177 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 786
(V786A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000039027
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000045807]
[ENSMUST00000065211]
[ENSMUST00000108447]
[ENSMUST00000108448]
[ENSMUST00000121738]
[ENSMUST00000123855]
[ENSMUST00000128230]
[ENSMUST00000128556]
[ENSMUST00000138612]
[ENSMUST00000153316]
[ENSMUST00000155702]
|
AlphaFold |
Q5SWD9 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000045807
AA Change: V786A
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
SMART Domains |
Protein: ENSMUSP00000039027 Gene: ENSMUSG00000038335 AA Change: V786A
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 |
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 |
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: 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: 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: ENSMUST00000138612
|
SMART Domains |
Protein: ENSMUSP00000119256 Gene: ENSMUSG00000001323
Domain | Start | End | E-Value | Type |
Pfam:PALP
|
19 |
112 |
4.1e-28 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000153316
|
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: 99.9%
- 3x: 99.7%
- 10x: 98.6%
- 20x: 96.2%
|
Validation Efficiency |
100% (39/39) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 40 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcg1 |
C |
T |
17: 31,327,321 (GRCm39) |
R339C |
possibly damaging |
Het |
Adamts6 |
G |
A |
13: 104,565,436 (GRCm39) |
G721R |
probably damaging |
Het |
Adnp2 |
A |
G |
18: 80,171,274 (GRCm39) |
V1045A |
probably benign |
Het |
Agbl3 |
T |
C |
6: 34,823,888 (GRCm39) |
I856T |
probably benign |
Het |
Anapc1 |
T |
A |
2: 128,526,454 (GRCm39) |
K115* |
probably null |
Het |
Arc |
A |
G |
15: 74,543,636 (GRCm39) |
S196P |
probably benign |
Het |
Atp10a |
T |
C |
7: 58,447,562 (GRCm39) |
I768T |
possibly damaging |
Het |
Blk |
C |
T |
14: 63,622,375 (GRCm39) |
R55H |
probably benign |
Het |
Ccdc158 |
T |
C |
5: 92,810,005 (GRCm39) |
S168G |
probably benign |
Het |
Cda |
G |
T |
4: 138,066,253 (GRCm39) |
T128K |
probably benign |
Het |
Celsr1 |
T |
A |
15: 85,791,799 (GRCm39) |
T2601S |
probably damaging |
Het |
Dmxl1 |
T |
C |
18: 50,013,847 (GRCm39) |
V1545A |
possibly damaging |
Het |
Dst |
T |
A |
1: 34,309,971 (GRCm39) |
N6264K |
probably damaging |
Het |
Ednra |
T |
C |
8: 78,401,718 (GRCm39) |
S191G |
probably damaging |
Het |
Elk3 |
A |
T |
10: 93,100,912 (GRCm39) |
S280T |
possibly damaging |
Het |
Etnk1 |
A |
G |
6: 143,126,343 (GRCm39) |
I63V |
possibly damaging |
Het |
Fscb |
A |
G |
12: 64,518,347 (GRCm39) |
S1040P |
unknown |
Het |
Gm14295 |
T |
G |
2: 176,502,420 (GRCm39) |
C637G |
probably damaging |
Het |
Gm5114 |
T |
C |
7: 39,057,997 (GRCm39) |
T541A |
probably benign |
Het |
Man2c1 |
T |
C |
9: 57,042,849 (GRCm39) |
F240L |
probably benign |
Het |
Map2 |
A |
T |
1: 66,454,766 (GRCm39) |
I1219L |
probably benign |
Het |
Map3k13 |
A |
G |
16: 21,711,173 (GRCm39) |
Y152C |
probably damaging |
Het |
Morc1 |
G |
A |
16: 48,322,683 (GRCm39) |
A327T |
probably damaging |
Het |
Myo3a |
A |
T |
2: 22,366,475 (GRCm39) |
Y553F |
probably benign |
Het |
Myo9b |
T |
A |
8: 71,804,803 (GRCm39) |
|
probably null |
Het |
Or14j1 |
A |
C |
17: 38,146,694 (GRCm39) |
D268A |
probably damaging |
Het |
Or5b3 |
C |
T |
19: 13,387,957 (GRCm39) |
T8I |
probably damaging |
Het |
Pam |
A |
G |
1: 97,823,774 (GRCm39) |
V219A |
probably benign |
Het |
Panx1 |
A |
G |
9: 14,918,929 (GRCm39) |
I310T |
possibly damaging |
Het |
Pde6a |
T |
A |
18: 61,397,057 (GRCm39) |
F634L |
possibly damaging |
Het |
Pkd1l2 |
C |
A |
8: 117,757,370 (GRCm39) |
C1556F |
probably damaging |
Het |
Prdm5 |
G |
A |
6: 65,860,635 (GRCm39) |
V440I |
probably damaging |
Het |
Rasa2 |
T |
C |
9: 96,493,493 (GRCm39) |
T64A |
probably damaging |
Het |
Sec24b |
A |
T |
3: 129,834,881 (GRCm39) |
Y106N |
probably damaging |
Het |
Sfswap |
C |
T |
5: 129,627,883 (GRCm39) |
Q689* |
probably null |
Het |
Slamf8 |
C |
T |
1: 172,417,965 (GRCm39) |
|
probably null |
Het |
Tektl1 |
G |
A |
10: 78,588,726 (GRCm39) |
T28M |
probably benign |
Het |
Tmt1a3 |
A |
G |
15: 100,233,123 (GRCm39) |
K105E |
probably benign |
Het |
Yod1 |
G |
A |
1: 130,645,275 (GRCm39) |
G19S |
probably damaging |
Het |
Zmynd10 |
T |
C |
9: 107,425,079 (GRCm39) |
I58T |
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 |
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 |
|
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'- TAGGTAAGAGCCTGGGATTCC -3'
(R):5'- CTTAGCAGAGACATGGACAACTG -3'
Sequencing Primer
(F):5'- AGACTGTGGGCTGTAAGTTCAC -3'
(R):5'- CAGAGACATGGACAACTGAAATAC -3'
|
Posted On |
2018-08-29 |