Incidental Mutation 'R0855:Sars1'
| ID |
82681 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Sars1
|
| Ensembl Gene |
ENSMUSG00000068739 |
| Gene Name |
seryl-tRNA synthetase 1 |
| Synonyms |
Sars, Strs |
| MMRRC Submission |
039034-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R0855 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
108332181-108352525 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 108334248 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Aspartic acid
at position 503
(E503D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000099685
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000090553]
[ENSMUST00000102625]
[ENSMUST00000132467]
[ENSMUST00000153499]
|
| AlphaFold |
P26638 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000090553
AA Change: E479D
PolyPhen 2
Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)
|
| SMART Domains |
Protein: ENSMUSP00000088041
Gene: ENSMUSG00000068739
AA Change: E479D
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Seryl_tRNA_N
|
2 |
113 |
1.5e-20 |
PFAM |
|
Pfam:tRNA-synt_2b
|
203 |
386 |
4.1e-39 |
PFAM |
|
low complexity region
|
481 |
497 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000102625
AA Change: E503D
PolyPhen 2
Score 0.070 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000099685
Gene: ENSMUSG00000068739
AA Change: E503D
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Seryl_tRNA_N
|
2 |
113 |
1.3e-22 |
PFAM |
|
Pfam:tRNA-synt_2b
|
248 |
427 |
2.1e-41 |
PFAM |
|
low complexity region
|
505 |
521 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000132467
|
| SMART Domains |
Protein: ENSMUSP00000120879
Gene: ENSMUSG00000068739
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Seryl_tRNA_N
|
2 |
113 |
6.1e-23 |
PFAM |
|
Pfam:tRNA-synt_2b
|
155 |
338 |
1.4e-41 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000153499
|
| SMART Domains |
Protein: ENSMUSP00000118676
Gene: ENSMUSG00000068739
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Seryl_tRNA_N
|
2 |
113 |
1.5e-23 |
PFAM |
|
PDB:3VBB|F
|
150 |
187 |
3e-18 |
PDB |
|
| Meta Mutation Damage Score |
0.0826 |
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.8%
- 10x: 97.4%
- 20x: 94.9%
|
| Validation Efficiency |
97% (35/36) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene belongs to the class II amino-acyl tRNA family. The encoded enzyme catalyzes the transfer of L-serine to tRNA (Ser) and is related to bacterial and yeast counterparts. Multiple alternatively spliced transcript variants have been described but the biological validity of all variants is unknown. [provided by RefSeq, Jul 2010]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2700046A07Rik |
A |
G |
18: 62,886,414 (GRCm39) |
|
noncoding transcript |
Het |
| Ak3 |
T |
C |
19: 29,000,345 (GRCm39) |
K189E |
probably benign |
Het |
| Anks3 |
A |
T |
16: 4,773,811 (GRCm39) |
|
probably benign |
Het |
| Ash1l |
C |
A |
3: 88,961,761 (GRCm39) |
H2378N |
possibly damaging |
Het |
| Baz1a |
A |
G |
12: 54,947,348 (GRCm39) |
|
probably benign |
Het |
| Bicra |
A |
G |
7: 15,705,929 (GRCm39) |
F1504S |
probably damaging |
Het |
| Blzf1 |
T |
C |
1: 164,119,950 (GRCm39) |
T353A |
possibly damaging |
Het |
| Btn1a1 |
C |
A |
13: 23,648,489 (GRCm39) |
V115F |
probably damaging |
Het |
| Cd38 |
T |
A |
5: 44,060,927 (GRCm39) |
|
probably null |
Het |
| Cep250 |
T |
C |
2: 155,806,031 (GRCm39) |
C109R |
probably damaging |
Het |
| Cnksr1 |
C |
T |
4: 133,960,377 (GRCm39) |
|
probably benign |
Het |
| Dmxl2 |
T |
A |
9: 54,273,724 (GRCm39) |
N3048I |
probably benign |
Het |
| Impdh1 |
T |
A |
6: 29,206,971 (GRCm39) |
H116L |
probably damaging |
Het |
| Kank4 |
C |
A |
4: 98,659,681 (GRCm39) |
W799L |
probably damaging |
Het |
| Kcnk7 |
C |
T |
19: 5,756,103 (GRCm39) |
H110Y |
probably benign |
Het |
| Mak |
T |
C |
13: 41,223,640 (GRCm39) |
E25G |
probably damaging |
Het |
| Mrpl54 |
G |
A |
10: 81,102,759 (GRCm39) |
|
probably benign |
Het |
| Myh10 |
A |
C |
11: 68,702,627 (GRCm39) |
D1767A |
possibly damaging |
Het |
| Naip2 |
T |
C |
13: 100,298,362 (GRCm39) |
E558G |
probably benign |
Het |
| Naip2 |
C |
T |
13: 100,298,368 (GRCm39) |
G556D |
probably benign |
Het |
| Ndufaf6 |
A |
T |
4: 11,051,169 (GRCm39) |
H310Q |
probably damaging |
Het |
| Osbpl6 |
G |
T |
2: 76,415,477 (GRCm39) |
G467V |
probably damaging |
Het |
| Osbpl6 |
A |
G |
2: 76,422,183 (GRCm39) |
E673G |
probably damaging |
Het |
| Picalm |
T |
A |
7: 89,840,356 (GRCm39) |
D458E |
possibly damaging |
Het |
| Ppp2ca |
G |
A |
11: 52,012,752 (GRCm39) |
R294H |
probably benign |
Het |
| Prdm14 |
T |
A |
1: 13,195,761 (GRCm39) |
N100I |
probably benign |
Het |
| Rbbp6 |
A |
G |
7: 122,591,471 (GRCm39) |
T510A |
probably benign |
Het |
| Smtn |
T |
C |
11: 3,471,880 (GRCm39) |
D853G |
probably damaging |
Het |
| Tbx20 |
A |
G |
9: 24,636,908 (GRCm39) |
M393T |
probably benign |
Het |
| Thada |
T |
C |
17: 84,744,083 (GRCm39) |
T742A |
probably damaging |
Het |
| Tmem63a |
T |
C |
1: 180,788,625 (GRCm39) |
S321P |
possibly damaging |
Het |
| Trim24 |
T |
A |
6: 37,892,137 (GRCm39) |
C223* |
probably null |
Het |
| Usp48 |
T |
C |
4: 137,335,465 (GRCm39) |
F213L |
probably damaging |
Het |
| Vmn2r109 |
A |
T |
17: 20,761,670 (GRCm39) |
Y562* |
probably null |
Het |
|
| Other mutations in Sars1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01083:Sars1
|
APN |
3 |
108,334,174 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02898:Sars1
|
APN |
3 |
108,336,579 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0660:Sars1
|
UTSW |
3 |
108,338,789 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0749:Sars1
|
UTSW |
3 |
108,335,582 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R1249:Sars1
|
UTSW |
3 |
108,343,251 (GRCm39) |
missense |
probably benign |
0.14 |
|
R1540:Sars1
|
UTSW |
3 |
108,340,461 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1659:Sars1
|
UTSW |
3 |
108,336,732 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1836:Sars1
|
UTSW |
3 |
108,343,260 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2120:Sars1
|
UTSW |
3 |
108,341,472 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3104:Sars1
|
UTSW |
3 |
108,336,621 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3105:Sars1
|
UTSW |
3 |
108,336,621 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6282:Sars1
|
UTSW |
3 |
108,335,590 (GRCm39) |
nonsense |
probably null |
|
|
R7224:Sars1
|
UTSW |
3 |
108,335,519 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7706:Sars1
|
UTSW |
3 |
108,338,780 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8219:Sars1
|
UTSW |
3 |
108,352,378 (GRCm39) |
missense |
probably benign |
0.02 |
|
R8353:Sars1
|
UTSW |
3 |
108,336,029 (GRCm39) |
missense |
probably benign |
0.14 |
|
R8398:Sars1
|
UTSW |
3 |
108,335,489 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8453:Sars1
|
UTSW |
3 |
108,336,029 (GRCm39) |
missense |
probably benign |
0.14 |
|
R9687:Sars1
|
UTSW |
3 |
108,343,221 (GRCm39) |
missense |
probably benign |
0.08 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCACCAGTCATCAGTGAAGAGACCC -3'
(R):5'- GGTGTCATATGCAGCTCCTAACCTC -3'
Sequencing Primer
(F):5'- AAGGGAACACCTGCTCTGTC -3'
(R):5'- AGCTCCTAACCTCAGAGTGG -3'
|
| Posted On |
2013-11-08 |
Incidental Mutation