Incidental Mutation 'IGL01083:Sars1'
| ID |
50715 |
| 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 # |
IGL01083
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
3 |
| Chromosomal Location |
108332181-108352525 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 108334174 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 528
(L528P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000099685
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000090553]
[ENSMUST00000102625]
[ENSMUST00000132467]
[ENSMUST00000153499]
|
| AlphaFold |
P26638 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000090553
AA Change: L504P
PolyPhen 2
Score 0.863 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000088041
Gene: ENSMUSG00000068739
AA Change: L504P
| 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: L528P
PolyPhen 2
Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000099685
Gene: ENSMUSG00000068739
AA Change: L528P
| 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 |
|
| 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: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adcy8 |
T |
C |
15: 64,659,191 (GRCm39) |
D533G |
probably benign |
Het |
| Adgb |
A |
G |
10: 10,283,298 (GRCm39) |
V136A |
possibly damaging |
Het |
| Aggf1 |
A |
G |
13: 95,492,917 (GRCm39) |
V564A |
probably damaging |
Het |
| Atp1a2 |
T |
C |
1: 172,112,186 (GRCm39) |
T570A |
probably benign |
Het |
| Bicdl2 |
A |
G |
17: 23,887,105 (GRCm39) |
Q464R |
probably damaging |
Het |
| Cacng5 |
C |
T |
11: 107,772,531 (GRCm39) |
V106I |
probably benign |
Het |
| Chd8 |
C |
A |
14: 52,458,877 (GRCm39) |
R792L |
probably damaging |
Het |
| Crybg2 |
A |
T |
4: 133,802,755 (GRCm39) |
I844F |
possibly damaging |
Het |
| Dock4 |
G |
A |
12: 40,838,380 (GRCm39) |
|
probably benign |
Het |
| Ergic2 |
T |
C |
6: 148,096,769 (GRCm39) |
T166A |
probably benign |
Het |
| Flrt2 |
A |
T |
12: 95,747,121 (GRCm39) |
R486S |
probably benign |
Het |
| Flt3 |
T |
C |
5: 147,291,680 (GRCm39) |
Y590C |
probably damaging |
Het |
| Fubp1 |
A |
G |
3: 151,927,871 (GRCm39) |
E441G |
probably damaging |
Het |
| Gfpt1 |
A |
G |
6: 87,031,678 (GRCm39) |
S107G |
probably damaging |
Het |
| Klra9 |
A |
G |
6: 130,166,729 (GRCm39) |
L45P |
possibly damaging |
Het |
| Mfsd5 |
A |
G |
15: 102,189,525 (GRCm39) |
Y299C |
probably damaging |
Het |
| Myo5b |
T |
A |
18: 74,866,974 (GRCm39) |
|
probably benign |
Het |
| Obscn |
G |
A |
11: 58,926,919 (GRCm39) |
T5532M |
probably damaging |
Het |
| Or5ac25 |
G |
A |
16: 59,182,198 (GRCm39) |
P128S |
probably damaging |
Het |
| Palld |
A |
G |
8: 61,991,841 (GRCm39) |
S165P |
probably benign |
Het |
| Pramel17 |
T |
A |
4: 101,692,729 (GRCm39) |
M424L |
probably benign |
Het |
| Prokr1 |
A |
T |
6: 87,565,766 (GRCm39) |
H26Q |
probably benign |
Het |
| Prrc2a |
G |
T |
17: 35,375,177 (GRCm39) |
R1158S |
possibly damaging |
Het |
| Rasgrp1 |
A |
G |
2: 117,115,549 (GRCm39) |
W680R |
probably benign |
Het |
| Ryr3 |
A |
G |
2: 112,582,191 (GRCm39) |
|
probably benign |
Het |
| Serpinb3b |
T |
A |
1: 107,085,473 (GRCm39) |
L89F |
possibly damaging |
Het |
| Slc38a6 |
T |
C |
12: 73,335,267 (GRCm39) |
V70A |
possibly damaging |
Het |
| Son |
G |
A |
16: 91,454,279 (GRCm39) |
E1009K |
probably damaging |
Het |
| Thoc3 |
A |
C |
13: 54,615,633 (GRCm39) |
|
probably benign |
Het |
| Tlk2 |
T |
A |
11: 105,112,050 (GRCm39) |
C88S |
probably benign |
Het |
| Tmem182 |
T |
A |
1: 40,844,977 (GRCm39) |
F21Y |
probably damaging |
Het |
| Tmem214 |
G |
A |
5: 31,033,437 (GRCm39) |
V557M |
probably benign |
Het |
| Zfp507 |
T |
C |
7: 35,493,463 (GRCm39) |
T527A |
probably benign |
Het |
|
| Other mutations in Sars1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
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 |
2013-06-21 |
Incidental Mutation