Incidental Mutation 'R2185:Tsr1'
ID |
237834 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Tsr1
|
Ensembl Gene |
ENSMUSG00000038335 |
Gene Name |
TSR1 20S rRNA accumulation |
Synonyms |
|
MMRRC Submission |
040187-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.963)
|
Stock # |
R2185 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
11 |
Chromosomal Location |
74788906-74800166 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 74792906 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Valine
at position 405
(I405V)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000039027
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000045807]
[ENSMUST00000065211]
[ENSMUST00000108447]
[ENSMUST00000108448]
[ENSMUST00000155702]
[ENSMUST00000153316]
[ENSMUST00000128230]
[ENSMUST00000121738]
|
AlphaFold |
Q5SWD9 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000045807
AA Change: I405V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000039027 Gene: ENSMUSG00000038335 AA Change: I405V
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 |
noncoding transcript
Transcript: ENSMUST00000130910
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000155785
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000127499
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000144019
|
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: ENSMUST00000153316
|
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: ENSMUST00000121738
|
SMART Domains |
Protein: ENSMUSP00000113372 Gene: ENSMUSG00000001323
Domain | Start | End | E-Value | Type |
Pfam:PALP
|
19 |
314 |
3.3e-75 |
PFAM |
|
Meta Mutation Damage Score |
0.1746 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.6%
- 20x: 96.0%
|
Validation Efficiency |
100% (48/48) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 49 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700123K08Rik |
T |
C |
5: 138,561,829 (GRCm39) |
D119G |
probably damaging |
Het |
Abca1 |
A |
G |
4: 53,089,830 (GRCm39) |
M427T |
probably benign |
Het |
Ankra2 |
T |
C |
13: 98,402,912 (GRCm39) |
F53S |
probably damaging |
Het |
Ano3 |
T |
C |
2: 110,605,390 (GRCm39) |
E272G |
probably benign |
Het |
Aqr |
C |
T |
2: 113,961,015 (GRCm39) |
|
probably null |
Het |
Ccdc168 |
G |
A |
1: 44,100,541 (GRCm39) |
H186Y |
probably benign |
Het |
Cibar1 |
A |
T |
4: 12,169,041 (GRCm39) |
|
probably benign |
Het |
Clca4b |
T |
C |
3: 144,634,317 (GRCm39) |
Y92C |
probably damaging |
Het |
Crebbp |
A |
T |
16: 3,902,002 (GRCm39) |
N2374K |
probably damaging |
Het |
Cspg4 |
A |
T |
9: 56,794,256 (GRCm39) |
I664L |
probably benign |
Het |
Ctnnd1 |
A |
T |
2: 84,442,892 (GRCm39) |
D626E |
probably damaging |
Het |
Dnai3 |
A |
G |
3: 145,772,619 (GRCm39) |
S476P |
possibly damaging |
Het |
Eml2 |
A |
G |
7: 18,927,953 (GRCm39) |
Y254C |
probably damaging |
Het |
Gabrr3 |
T |
C |
16: 59,255,031 (GRCm39) |
S239P |
probably damaging |
Het |
Gen1 |
T |
C |
12: 11,311,041 (GRCm39) |
T64A |
probably null |
Het |
Gm14399 |
C |
A |
2: 174,973,188 (GRCm39) |
C189F |
probably damaging |
Het |
Gm9476 |
T |
G |
10: 100,143,040 (GRCm39) |
|
noncoding transcript |
Het |
Kcnh5 |
A |
T |
12: 75,177,705 (GRCm39) |
F134I |
possibly damaging |
Het |
Kdm4b |
G |
C |
17: 56,700,750 (GRCm39) |
A474P |
probably benign |
Het |
Kif2b |
TTCTCTCTCT |
TTCTCTCT |
11: 91,467,797 (GRCm39) |
|
probably null |
Het |
Klk14 |
G |
A |
7: 43,341,501 (GRCm39) |
C51Y |
probably damaging |
Het |
Lrrc28 |
C |
T |
7: 67,195,201 (GRCm39) |
R203Q |
possibly damaging |
Het |
Lrrc8e |
G |
T |
8: 4,284,986 (GRCm39) |
E404* |
probably null |
Het |
Macf1 |
A |
T |
4: 123,369,349 (GRCm39) |
M239K |
probably damaging |
Het |
Mamdc4 |
A |
G |
2: 25,459,704 (GRCm39) |
|
probably null |
Het |
Matr3 |
A |
G |
18: 35,714,278 (GRCm39) |
Y75C |
probably damaging |
Het |
Myo19 |
T |
C |
11: 84,783,047 (GRCm39) |
V187A |
probably benign |
Het |
Ncbp2 |
A |
G |
16: 31,775,195 (GRCm39) |
D116G |
probably damaging |
Het |
Or1d2 |
A |
T |
11: 74,255,572 (GRCm39) |
I26F |
probably benign |
Het |
Or4p8 |
A |
C |
2: 88,727,047 (GRCm39) |
V298G |
probably damaging |
Het |
Or56a3 |
T |
A |
7: 104,735,509 (GRCm39) |
D195E |
possibly damaging |
Het |
Or9g3 |
T |
C |
2: 85,590,363 (GRCm39) |
Y119C |
probably damaging |
Het |
Pkd1l3 |
T |
A |
8: 110,359,827 (GRCm39) |
M894K |
possibly damaging |
Het |
Prpf8 |
C |
T |
11: 75,377,939 (GRCm39) |
R8* |
probably null |
Het |
Prss12 |
T |
A |
3: 123,280,793 (GRCm39) |
S493T |
probably benign |
Het |
Ptov1 |
T |
G |
7: 44,516,707 (GRCm39) |
|
probably benign |
Het |
Rfpl4 |
A |
T |
7: 5,118,499 (GRCm39) |
L24M |
probably damaging |
Het |
Rundc1 |
C |
A |
11: 101,316,157 (GRCm39) |
D76E |
probably benign |
Het |
Slc5a11 |
G |
T |
7: 122,872,421 (GRCm39) |
A673S |
probably damaging |
Het |
Smg5 |
T |
C |
3: 88,258,868 (GRCm39) |
M613T |
probably benign |
Het |
Swt1 |
T |
A |
1: 151,260,219 (GRCm39) |
H677L |
probably damaging |
Het |
Tas2r107 |
T |
C |
6: 131,636,566 (GRCm39) |
N161S |
probably damaging |
Het |
Trp73 |
A |
T |
4: 154,189,274 (GRCm39) |
|
probably null |
Het |
Ttll4 |
A |
G |
1: 74,718,988 (GRCm39) |
T280A |
possibly damaging |
Het |
Ube2q2 |
A |
G |
9: 55,102,366 (GRCm39) |
|
probably null |
Het |
Usp5 |
T |
C |
6: 124,794,373 (GRCm39) |
E769G |
probably damaging |
Het |
Vmn2r68 |
T |
A |
7: 84,882,901 (GRCm39) |
K284* |
probably null |
Het |
Zfp963 |
C |
A |
8: 70,195,561 (GRCm39) |
K297N |
probably benign |
Het |
Zfp975 |
C |
A |
7: 42,311,105 (GRCm39) |
A503S |
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 |
|
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 |
|
Predicted Primers |
PCR Primer
(F):5'- ATGACATTAGGCCCACTGC -3'
(R):5'- CCCTTAGTTACAGCAGCTGAC -3'
Sequencing Primer
(F):5'- CCACTGCAGGGTTTATTTAGC -3'
(R):5'- AGCTGACTTTACAGTACAGCCTTGG -3'
|
Posted On |
2014-10-02 |