Incidental Mutation 'R0749:Sars1'
| ID |
70243 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Sars1
|
| Ensembl Gene |
ENSMUSG00000068739 |
| Gene Name |
seryl-tRNA synthetase 1 |
| Synonyms |
Sars, Strs |
| MMRRC Submission |
038929-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R0749 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
3 |
| Chromosomal Location |
108332181-108352525 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 108335582 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Valine
at position 389
(F389V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000088041
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000090553]
[ENSMUST00000102625]
[ENSMUST00000132467]
[ENSMUST00000153499]
|
| AlphaFold |
P26638 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000090553
AA Change: F389V
PolyPhen 2
Score 0.952 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000088041
Gene: ENSMUSG00000068739
AA Change: F389V
| 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 |
possibly damaging
Transcript: ENSMUST00000102625
AA Change: F389V
PolyPhen 2
Score 0.672 (Sensitivity: 0.86; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000099685
Gene: ENSMUSG00000068739
AA Change: F389V
| 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 |
possibly damaging
Transcript: ENSMUST00000132467
AA Change: F341V
PolyPhen 2
Score 0.848 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000120879
Gene: ENSMUSG00000068739
AA Change: F341V
| 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 |
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.3%
- 20x: 94.5%
|
| Validation Efficiency |
|
| 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: 27 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aprt |
A |
T |
8: 123,302,149 (GRCm39) |
Y105N |
probably damaging |
Het |
| Atxn2l |
A |
T |
7: 126,100,009 (GRCm39) |
S109T |
possibly damaging |
Het |
| Bbs9 |
T |
C |
9: 22,486,497 (GRCm39) |
|
probably null |
Het |
| Bmp4 |
T |
C |
14: 46,622,070 (GRCm39) |
E158G |
probably damaging |
Het |
| Btn2a2 |
T |
C |
13: 23,662,568 (GRCm39) |
*418W |
probably null |
Het |
| Cpt1c |
A |
G |
7: 44,612,250 (GRCm39) |
Y494H |
probably damaging |
Het |
| Cyp3a16 |
T |
A |
5: 145,392,987 (GRCm39) |
|
probably null |
Het |
| Dpy19l1 |
T |
A |
9: 24,373,880 (GRCm39) |
H270L |
probably benign |
Het |
| Fdxr |
A |
G |
11: 115,167,671 (GRCm39) |
S15P |
probably benign |
Het |
| Gm8688 |
T |
G |
8: 100,391,152 (GRCm39) |
|
noncoding transcript |
Het |
| Golph3l |
G |
A |
3: 95,515,260 (GRCm39) |
R134Q |
probably damaging |
Het |
| Hmgxb4 |
A |
G |
8: 75,727,565 (GRCm39) |
T183A |
probably damaging |
Het |
| Krt1c |
T |
G |
15: 101,726,098 (GRCm39) |
S147R |
unknown |
Het |
| Lipn |
T |
C |
19: 34,054,379 (GRCm39) |
S206P |
probably damaging |
Het |
| Mcpt2 |
A |
G |
14: 56,281,136 (GRCm39) |
|
probably null |
Het |
| Metap2 |
T |
C |
10: 93,715,429 (GRCm39) |
E133G |
probably benign |
Het |
| Nuak1 |
T |
C |
10: 84,210,648 (GRCm39) |
Y480C |
probably damaging |
Het |
| Oma1 |
C |
T |
4: 103,182,496 (GRCm39) |
Q300* |
probably null |
Het |
| Pcnt |
T |
C |
10: 76,217,198 (GRCm39) |
E2161G |
probably damaging |
Het |
| Pkdrej |
G |
T |
15: 85,702,275 (GRCm39) |
D1220E |
probably benign |
Het |
| Ptdss1 |
T |
A |
13: 67,135,914 (GRCm39) |
C390* |
probably null |
Het |
| Sec31b |
C |
T |
19: 44,512,945 (GRCm39) |
V515M |
probably damaging |
Het |
| Syt3 |
A |
G |
7: 44,048,571 (GRCm39) |
E587G |
probably benign |
Het |
| Tjp2 |
T |
C |
19: 24,099,636 (GRCm39) |
E417G |
possibly damaging |
Het |
| Tmem63b |
A |
G |
17: 45,977,041 (GRCm39) |
F442S |
possibly damaging |
Het |
| Togaram1 |
A |
G |
12: 65,029,472 (GRCm39) |
D965G |
possibly damaging |
Het |
| Zmynd10 |
T |
C |
9: 107,425,882 (GRCm39) |
V72A |
probably damaging |
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 |
|
R0855:Sars1
|
UTSW |
3 |
108,334,248 (GRCm39) |
missense |
probably benign |
0.07 |
|
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'- GTTTCTGTCTACAAGAACCCGGTCC -3'
(R):5'- ATGTGCAGGCTTCTTCAGGCTC -3'
Sequencing Primer
(F):5'- CGGTCCTGATTCAGCAGAAG -3'
(R):5'- TTCTTCAGGCTCGCTGC -3'
|
| Posted On |
2013-09-30 |
Incidental Mutation