Incidental Mutation 'IGL02898:Sars1'
| ID |
363480 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Sars1
|
| Ensembl Gene |
ENSMUSG00000068739 |
| Gene Name |
seryl-tRNA synthetase 1 |
| Synonyms |
Sars, Strs |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL02898
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
3 |
| Chromosomal Location |
108332181-108352525 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 108336579 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Tyrosine
at position 268
(F268Y)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000120879
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000090553]
[ENSMUST00000102625]
[ENSMUST00000132467]
[ENSMUST00000153499]
|
| AlphaFold |
P26638 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000090553
AA Change: F316Y
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000088041
Gene: ENSMUSG00000068739
AA Change: F316Y
| 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 damaging
Transcript: ENSMUST00000102625
AA Change: F316Y
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000099685
Gene: ENSMUSG00000068739
AA Change: F316Y
| 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 damaging
Transcript: ENSMUST00000132467
AA Change: F268Y
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000120879
Gene: ENSMUSG00000068739
AA Change: F268Y
| 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 |
|
| 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: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamtsl5 |
A |
G |
10: 80,178,065 (GRCm39) |
|
probably benign |
Het |
| Brd3 |
A |
G |
2: 27,349,753 (GRCm39) |
S267P |
possibly damaging |
Het |
| Btaf1 |
A |
G |
19: 36,946,468 (GRCm39) |
T425A |
probably benign |
Het |
| Caskin1 |
A |
T |
17: 24,721,383 (GRCm39) |
E544D |
probably benign |
Het |
| Col20a1 |
C |
T |
2: 180,630,905 (GRCm39) |
Q58* |
probably null |
Het |
| Eif2ak1 |
G |
A |
5: 143,826,270 (GRCm39) |
V428I |
probably damaging |
Het |
| Fez2 |
A |
G |
17: 78,692,184 (GRCm39) |
I345T |
probably benign |
Het |
| Focad |
A |
T |
4: 88,310,234 (GRCm39) |
M1388L |
probably benign |
Het |
| Gfer |
T |
C |
17: 24,914,921 (GRCm39) |
R41G |
probably benign |
Het |
| Gm9956 |
C |
T |
10: 56,621,350 (GRCm39) |
S4L |
unknown |
Het |
| Krtap6-1 |
G |
A |
16: 88,828,643 (GRCm39) |
G13D |
unknown |
Het |
| Megf8 |
A |
G |
7: 25,045,933 (GRCm39) |
E1492G |
possibly damaging |
Het |
| Myh7 |
T |
C |
14: 55,221,197 (GRCm39) |
I909V |
probably damaging |
Het |
| Or11g25 |
T |
A |
14: 50,723,643 (GRCm39) |
S243T |
probably damaging |
Het |
| Or1e21 |
T |
A |
11: 73,344,561 (GRCm39) |
H159L |
probably damaging |
Het |
| Otog |
A |
G |
7: 45,959,562 (GRCm39) |
E717G |
probably damaging |
Het |
| Pik3r4 |
A |
G |
9: 105,527,605 (GRCm39) |
I319M |
probably benign |
Het |
| Piwil4 |
A |
T |
9: 14,617,583 (GRCm39) |
|
probably benign |
Het |
| Plekho1 |
T |
A |
3: 95,899,493 (GRCm39) |
H100L |
probably damaging |
Het |
| Prr30 |
T |
G |
14: 101,435,917 (GRCm39) |
D215A |
probably benign |
Het |
| Prss52 |
C |
T |
14: 64,351,115 (GRCm39) |
A300V |
possibly damaging |
Het |
| Ralgps2 |
C |
A |
1: 156,645,314 (GRCm39) |
K514N |
probably benign |
Het |
| Robo4 |
T |
C |
9: 37,319,472 (GRCm39) |
I463T |
probably damaging |
Het |
| Sidt1 |
C |
T |
16: 44,102,858 (GRCm39) |
R289Q |
possibly damaging |
Het |
| Slco1a8 |
T |
A |
6: 141,940,023 (GRCm39) |
Y140F |
probably benign |
Het |
| Slco2a1 |
T |
C |
9: 102,956,805 (GRCm39) |
V539A |
probably damaging |
Het |
| Snrnp200 |
A |
G |
2: 127,058,676 (GRCm39) |
|
probably benign |
Het |
| Spag17 |
A |
G |
3: 100,008,702 (GRCm39) |
D1944G |
probably benign |
Het |
| Spata1 |
C |
T |
3: 146,181,094 (GRCm39) |
R288Q |
possibly damaging |
Het |
| Tatdn3 |
T |
C |
1: 190,778,507 (GRCm39) |
*233W |
probably null |
Het |
| Ttc3 |
T |
A |
16: 94,220,285 (GRCm39) |
V536E |
probably damaging |
Het |
| V1rd19 |
A |
C |
7: 23,702,854 (GRCm39) |
T107P |
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 |
|
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 |
|
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 |
|
| Posted On |
2015-12-18 |
Incidental Mutation