Incidental Mutation 'R8767:Tsr1'
| ID |
667927 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tsr1
|
| Ensembl Gene |
ENSMUSG00000038335 |
| Gene Name |
TSR1 20S rRNA accumulation |
| Synonyms |
|
| MMRRC Submission |
068601-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.963)
|
| Stock # |
R8767 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
74788906-74800166 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 74799149 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 777
(T777A)
|
| 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 damaging
Transcript: ENSMUST00000045807
AA Change: T777A
PolyPhen 2
Score 0.961 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000039027
Gene: ENSMUSG00000038335
AA Change: T777A
| 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: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
100% (36/36) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ankrd31 |
A |
G |
13: 96,969,224 (GRCm39) |
T954A |
probably damaging |
Het |
| Arhgap24 |
A |
T |
5: 103,039,740 (GRCm39) |
M319L |
probably benign |
Het |
| Aste1 |
A |
G |
9: 105,274,098 (GRCm39) |
N113D |
possibly damaging |
Het |
| Ccnh |
C |
T |
13: 85,356,959 (GRCm39) |
Q275* |
probably null |
Het |
| Cfi |
G |
A |
3: 129,644,497 (GRCm39) |
|
probably null |
Het |
| Cntn1 |
G |
A |
15: 92,132,347 (GRCm39) |
V148M |
probably damaging |
Het |
| Crybg3 |
T |
A |
16: 59,376,500 (GRCm39) |
M1585L |
probably benign |
Het |
| D630036H23Rik |
A |
G |
12: 36,431,441 (GRCm39) |
S186P |
unknown |
Het |
| Dnhd1 |
T |
C |
7: 105,301,330 (GRCm39) |
L229P |
probably damaging |
Het |
| Dtymk |
A |
T |
1: 93,728,635 (GRCm39) |
|
probably benign |
Het |
| Eif4g3 |
T |
A |
4: 137,930,779 (GRCm39) |
I1511K |
probably damaging |
Het |
| Entrep3 |
T |
G |
3: 89,091,725 (GRCm39) |
|
probably benign |
Het |
| Fastkd2 |
A |
G |
1: 63,775,080 (GRCm39) |
D342G |
probably benign |
Het |
| Hcar1 |
A |
G |
5: 124,017,113 (GRCm39) |
F193L |
probably damaging |
Het |
| Hivep2 |
T |
G |
10: 14,004,992 (GRCm39) |
L530R |
probably damaging |
Het |
| Ilrun |
T |
C |
17: 27,987,043 (GRCm39) |
T228A |
probably benign |
Het |
| Krtap5-2 |
TCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACCACAGCCCCCACAGGAACTACA |
TCCACAGGAACTACA |
7: 141,728,845 (GRCm39) |
|
probably benign |
Het |
| Lats2 |
G |
A |
14: 57,931,781 (GRCm39) |
T879M |
probably damaging |
Het |
| Lin54 |
G |
A |
5: 100,600,884 (GRCm39) |
T503I |
probably benign |
Het |
| Mmp16 |
T |
G |
4: 18,051,714 (GRCm39) |
|
probably benign |
Het |
| Muc6 |
A |
G |
7: 141,229,549 (GRCm39) |
Y1186H |
probably damaging |
Het |
| Nr3c1 |
A |
G |
18: 39,619,387 (GRCm39) |
F300S |
probably damaging |
Het |
| Or2y1g |
A |
G |
11: 49,171,227 (GRCm39) |
N84S |
possibly damaging |
Het |
| Or7g21 |
A |
C |
9: 19,032,922 (GRCm39) |
I221L |
possibly damaging |
Het |
| Pcdha4 |
T |
C |
18: 37,086,905 (GRCm39) |
S363P |
possibly damaging |
Het |
| Ptdss1 |
C |
T |
13: 67,101,608 (GRCm39) |
A99V |
probably benign |
Het |
| Ptprz1 |
T |
A |
6: 22,986,187 (GRCm39) |
L329Q |
probably damaging |
Het |
| Rnf115 |
T |
C |
3: 96,695,907 (GRCm39) |
V231A |
probably damaging |
Het |
| Sh3pxd2a |
A |
G |
19: 47,257,345 (GRCm39) |
Y486H |
probably damaging |
Het |
| Shh |
T |
A |
5: 28,671,487 (GRCm39) |
N92I |
possibly damaging |
Het |
| Slc13a4 |
T |
A |
6: 35,245,783 (GRCm39) |
I621F |
probably benign |
Het |
| Srrm1 |
T |
C |
4: 135,059,532 (GRCm39) |
T438A |
unknown |
Het |
| Synj1 |
A |
C |
16: 90,758,406 (GRCm39) |
F813V |
probably damaging |
Het |
| Tnrc6a |
A |
G |
7: 122,783,133 (GRCm39) |
|
probably benign |
Het |
| Trir |
T |
A |
8: 85,753,690 (GRCm39) |
F55I |
probably damaging |
Het |
| Vmn2r5 |
G |
A |
3: 64,415,103 (GRCm39) |
R86C |
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 |
|
|
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 |
|
|
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'- CTAGGTAAGAGCCTGGGATTCC -3'
(R):5'- ACTTAGCAGAGACATGGACAACTG -3'
Sequencing Primer
(F):5'- ATTCCCAGGGGTTGGCTATC -3'
(R):5'- CAGAGACATGGACAACTGAAATAC -3'
|
| Posted On |
2021-03-08 |
Incidental Mutation