Incidental Mutation 'IGL02568:Tsr1'
| ID |
298894 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Tsr1
|
| Ensembl Gene |
ENSMUSG00000038335 |
| Gene Name |
TSR1 20S rRNA accumulation |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.963)
|
| Stock # |
IGL02568
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
11 |
| Chromosomal Location |
74788906-74800166 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 74791204 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 261
(V261A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000039027
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000045807]
[ENSMUST00000057631]
[ENSMUST00000081799]
[ENSMUST00000128230]
[ENSMUST00000153316]
[ENSMUST00000155702]
|
| AlphaFold |
Q5SWD9 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000045807
AA Change: V261A
PolyPhen 2
Score 0.192 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000039027
Gene: ENSMUSG00000038335
AA Change: V261A
| 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: ENSMUST00000057631
|
| SMART Domains |
Protein: ENSMUSP00000050496
Gene: ENSMUSG00000038351
| Domain | Start | End | E-Value | Type |
|---|
|
RUN
|
128 |
188 |
4.3e-18 |
SMART |
|
low complexity region
|
453 |
476 |
N/A |
INTRINSIC |
|
TBC
|
563 |
965 |
3.57e-34 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000081799
|
| SMART Domains |
Protein: ENSMUSP00000080489
Gene: ENSMUSG00000038351
| Domain | Start | End | E-Value | Type |
|---|
|
RUN
|
128 |
188 |
4.3e-18 |
SMART |
|
low complexity region
|
446 |
453 |
N/A |
INTRINSIC |
|
low complexity region
|
498 |
521 |
N/A |
INTRINSIC |
|
TBC
|
608 |
1010 |
3.57e-34 |
SMART |
|
| 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 |
noncoding transcript
Transcript: ENSMUST00000130910
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000144019
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000153316
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000155785
|
| 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 |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcd2 |
A |
G |
15: 91,033,184 (GRCm39) |
|
probably benign |
Het |
| Abcg5 |
C |
T |
17: 84,977,827 (GRCm39) |
R143Q |
probably damaging |
Het |
| Arap3 |
G |
A |
18: 38,129,711 (GRCm39) |
T150I |
probably benign |
Het |
| Arhgap32 |
T |
C |
9: 32,158,490 (GRCm39) |
V175A |
probably damaging |
Het |
| Bpifb3 |
A |
G |
2: 153,766,721 (GRCm39) |
E208G |
probably benign |
Het |
| C2 |
T |
A |
17: 35,083,325 (GRCm39) |
D518V |
possibly damaging |
Het |
| C6 |
T |
A |
15: 4,820,646 (GRCm39) |
C552* |
probably null |
Het |
| Ccdc38 |
A |
T |
10: 93,415,685 (GRCm39) |
D447V |
probably damaging |
Het |
| Cept1 |
C |
T |
3: 106,411,035 (GRCm39) |
R386H |
probably benign |
Het |
| Comt |
A |
G |
16: 18,230,454 (GRCm39) |
V85A |
probably damaging |
Het |
| Ddx24 |
G |
T |
12: 103,383,571 (GRCm39) |
L627I |
probably damaging |
Het |
| Efemp1 |
T |
C |
11: 28,866,971 (GRCm39) |
|
probably null |
Het |
| Etf1 |
T |
C |
18: 35,046,714 (GRCm39) |
T99A |
possibly damaging |
Het |
| Fhad1 |
T |
C |
4: 141,660,105 (GRCm39) |
E68G |
probably null |
Het |
| Fzd3 |
C |
A |
14: 65,473,389 (GRCm39) |
|
probably benign |
Het |
| Gins3 |
T |
C |
8: 96,364,606 (GRCm39) |
F119L |
probably benign |
Het |
| Golga5 |
G |
T |
12: 102,438,338 (GRCm39) |
V18L |
probably benign |
Het |
| Il16 |
C |
A |
7: 83,310,484 (GRCm39) |
R474M |
probably damaging |
Het |
| Itpr1 |
C |
A |
6: 108,316,515 (GRCm39) |
Q71K |
possibly damaging |
Het |
| Kif21b |
T |
G |
1: 136,100,605 (GRCm39) |
L1562R |
probably damaging |
Het |
| Lamc2 |
T |
C |
1: 153,042,008 (GRCm39) |
E42G |
possibly damaging |
Het |
| Mmp3 |
T |
G |
9: 7,446,001 (GRCm39) |
L35R |
probably benign |
Het |
| Naip6 |
C |
A |
13: 100,452,780 (GRCm39) |
G94W |
probably damaging |
Het |
| Nccrp1 |
G |
A |
7: 28,243,905 (GRCm39) |
A226V |
probably damaging |
Het |
| Nckap5l |
A |
G |
15: 99,323,564 (GRCm39) |
Y980H |
probably damaging |
Het |
| Ncoa3 |
T |
C |
2: 165,911,277 (GRCm39) |
S1345P |
probably damaging |
Het |
| Nop2 |
T |
C |
6: 125,117,813 (GRCm39) |
S455P |
probably damaging |
Het |
| Nup93 |
T |
C |
8: 95,036,263 (GRCm39) |
F689S |
probably damaging |
Het |
| Or5b112 |
T |
C |
19: 13,319,583 (GRCm39) |
F154L |
probably benign |
Het |
| Plekhm1 |
T |
A |
11: 103,285,876 (GRCm39) |
E186D |
probably damaging |
Het |
| Plxdc1 |
T |
C |
11: 97,869,390 (GRCm39) |
Q66R |
probably damaging |
Het |
| Prkdc |
T |
G |
16: 15,544,406 (GRCm39) |
Y1799D |
probably damaging |
Het |
| Rasa2 |
A |
G |
9: 96,462,563 (GRCm39) |
F220L |
probably damaging |
Het |
| Rftn1 |
T |
C |
17: 50,344,027 (GRCm39) |
D87G |
probably damaging |
Het |
| Rgs6 |
C |
T |
12: 83,117,376 (GRCm39) |
T266M |
probably benign |
Het |
| Sec16a |
A |
G |
2: 26,326,054 (GRCm39) |
Y1208H |
probably damaging |
Het |
| Slc12a1 |
G |
T |
2: 125,026,648 (GRCm39) |
V428L |
probably damaging |
Het |
| Srrm1 |
G |
A |
4: 135,052,415 (GRCm39) |
P658L |
unknown |
Het |
| Svep1 |
T |
A |
4: 58,135,441 (GRCm39) |
T556S |
probably benign |
Het |
| Tanc2 |
T |
A |
11: 105,667,777 (GRCm39) |
N119K |
probably benign |
Het |
| Tpgs1 |
T |
A |
10: 79,505,238 (GRCm39) |
|
probably benign |
Het |
| Tpm3-rs7 |
A |
G |
14: 113,552,370 (GRCm39) |
E88G |
probably damaging |
Het |
| Usp18 |
C |
T |
6: 121,238,050 (GRCm39) |
T143I |
probably benign |
Het |
| Vmn2r24 |
T |
C |
6: 123,792,812 (GRCm39) |
I713T |
probably benign |
Het |
| Zfp518a |
G |
A |
19: 40,903,061 (GRCm39) |
G997R |
probably damaging |
Het |
|
| Other mutations in Tsr1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
|
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 |
|
| Posted On |
2015-04-16 |
Incidental Mutation