Incidental Mutation 'IGL01514:Gars1'
| ID |
89322 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Gars1
|
| Ensembl Gene |
ENSMUSG00000029777 |
| Gene Name |
glycyl-tRNA synthetase 1 |
| Synonyms |
Gena201, Sgrp23, Gars, GENA202 |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL01514
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
6 |
| Chromosomal Location |
55014992-55056485 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 55042505 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Threonine
at position 413
(S413T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000003572
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000003572]
|
| AlphaFold |
Q9CZD3 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000003572
AA Change: S413T
PolyPhen 2
Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
|
| SMART Domains |
Protein: ENSMUSP00000003572
Gene: ENSMUSG00000029777
AA Change: S413T
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
4 |
27 |
N/A |
INTRINSIC |
|
low complexity region
|
31 |
46 |
N/A |
INTRINSIC |
|
WHEP-TRS
|
57 |
112 |
1.58e-8 |
SMART |
|
Pfam:tRNA-synt_2b
|
281 |
582 |
2.1e-10 |
PFAM |
|
Pfam:HGTP_anticodon
|
605 |
699 |
7.7e-24 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000203334
|
| 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 encodes glycyl-tRNA synthetase, one of the aminoacyl-tRNA synthetases that charge tRNAs with their cognate amino acids. The encoded enzyme is an (alpha)2 dimer which belongs to the class II family of tRNA synthetases. It has been shown to be a target of autoantibodies in the human autoimmune diseases, polymyositis or dermatomyositis. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2015]
PHENOTYPE: A dominant mutation results in sensory and motor axon degeneration in affected mice, with defects in synaptic transmission, nerve conduction and premature death. A loss of function mutation results in embryonic lethality in homozygous mice, and no discernable phenotype in heterozygous mice. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Accs |
A |
G |
2: 93,669,587 (GRCm39) |
|
probably benign |
Het |
| Actl7b |
T |
C |
4: 56,740,677 (GRCm39) |
Y227C |
probably damaging |
Het |
| Adam26a |
A |
T |
8: 44,021,485 (GRCm39) |
H668Q |
probably benign |
Het |
| Alcam |
A |
T |
16: 52,094,653 (GRCm39) |
|
probably benign |
Het |
| Aldh3a2 |
C |
T |
11: 61,144,624 (GRCm39) |
|
probably benign |
Het |
| Atp11b |
G |
T |
3: 35,891,130 (GRCm39) |
G801V |
probably damaging |
Het |
| C3 |
G |
A |
17: 57,522,866 (GRCm39) |
T1006I |
probably benign |
Het |
| Cacna2d4 |
T |
C |
6: 119,259,134 (GRCm39) |
|
probably benign |
Het |
| Cldn34b3 |
A |
T |
X: 75,310,680 (GRCm39) |
I83F |
probably damaging |
Het |
| Clec2g |
G |
A |
6: 128,925,736 (GRCm39) |
M48I |
probably benign |
Het |
| Coch |
A |
G |
12: 51,650,136 (GRCm39) |
D375G |
probably damaging |
Het |
| Erbb2 |
C |
T |
11: 98,323,745 (GRCm39) |
T653I |
possibly damaging |
Het |
| Etv3 |
A |
G |
3: 87,443,025 (GRCm39) |
H203R |
possibly damaging |
Het |
| Fat4 |
A |
G |
3: 39,003,683 (GRCm39) |
R1801G |
possibly damaging |
Het |
| Gnat1 |
G |
A |
9: 107,553,500 (GRCm39) |
R253C |
possibly damaging |
Het |
| Hook3 |
A |
T |
8: 26,578,217 (GRCm39) |
L91I |
possibly damaging |
Het |
| Lrp8 |
T |
C |
4: 107,712,881 (GRCm39) |
Y377H |
probably damaging |
Het |
| Lztr1 |
G |
A |
16: 17,340,255 (GRCm39) |
|
probably null |
Het |
| Malt1 |
A |
G |
18: 65,609,471 (GRCm39) |
D825G |
possibly damaging |
Het |
| Nlrp9b |
T |
C |
7: 19,779,859 (GRCm39) |
|
probably null |
Het |
| Or1x2 |
C |
T |
11: 50,918,416 (GRCm39) |
R196* |
probably null |
Het |
| Or2v2 |
A |
T |
11: 49,004,403 (GRCm39) |
I50N |
probably damaging |
Het |
| Orc1 |
A |
G |
4: 108,459,249 (GRCm39) |
R473G |
probably damaging |
Het |
| Pard6g |
G |
A |
18: 80,160,661 (GRCm39) |
R258H |
probably damaging |
Het |
| Pkdrej |
T |
C |
15: 85,702,264 (GRCm39) |
D1224G |
possibly damaging |
Het |
| Polr1e |
A |
G |
4: 45,018,723 (GRCm39) |
T18A |
probably benign |
Het |
| Pycr3 |
T |
C |
15: 75,788,853 (GRCm39) |
T240A |
probably damaging |
Het |
| Ralgapa1 |
C |
A |
12: 55,766,442 (GRCm39) |
G1284V |
probably damaging |
Het |
| Rcl1 |
T |
C |
19: 29,120,698 (GRCm39) |
|
probably benign |
Het |
| Sec24c |
C |
T |
14: 20,732,839 (GRCm39) |
T134I |
possibly damaging |
Het |
| Sis |
A |
G |
3: 72,843,253 (GRCm39) |
|
probably benign |
Het |
| Susd5 |
A |
C |
9: 113,897,947 (GRCm39) |
|
probably benign |
Het |
| Tlk1 |
T |
C |
2: 70,582,610 (GRCm39) |
N173S |
probably benign |
Het |
| Uroc1 |
T |
C |
6: 90,340,082 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Gars1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00818:Gars1
|
APN |
6 |
55,027,338 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01084:Gars1
|
APN |
6 |
55,032,812 (GRCm39) |
missense |
probably benign |
|
|
IGL02104:Gars1
|
APN |
6 |
55,054,682 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02349:Gars1
|
APN |
6 |
55,025,049 (GRCm39) |
splice site |
probably benign |
|
|
IGL02371:Gars1
|
APN |
6 |
55,042,452 (GRCm39) |
missense |
probably benign |
0.08 |
|
IGL02932:Gars1
|
APN |
6 |
55,037,929 (GRCm39) |
missense |
probably damaging |
1.00 |
|
BB006:Gars1
|
UTSW |
6 |
55,040,102 (GRCm39) |
missense |
probably damaging |
1.00 |
|
BB016:Gars1
|
UTSW |
6 |
55,040,102 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02799:Gars1
|
UTSW |
6 |
55,040,084 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0637:Gars1
|
UTSW |
6 |
55,046,472 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0762:Gars1
|
UTSW |
6 |
55,054,565 (GRCm39) |
splice site |
probably null |
|
|
R1451:Gars1
|
UTSW |
6 |
55,030,108 (GRCm39) |
splice site |
probably benign |
|
|
R1846:Gars1
|
UTSW |
6 |
55,040,153 (GRCm39) |
missense |
probably benign |
0.05 |
|
R1988:Gars1
|
UTSW |
6 |
55,054,757 (GRCm39) |
missense |
probably null |
0.00 |
|
R2033:Gars1
|
UTSW |
6 |
55,054,708 (GRCm39) |
missense |
probably benign |
0.02 |
|
R2566:Gars1
|
UTSW |
6 |
55,042,548 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4706:Gars1
|
UTSW |
6 |
55,046,363 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4854:Gars1
|
UTSW |
6 |
55,023,403 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5055:Gars1
|
UTSW |
6 |
55,045,077 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5558:Gars1
|
UTSW |
6 |
55,042,592 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6306:Gars1
|
UTSW |
6 |
55,032,809 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6821:Gars1
|
UTSW |
6 |
55,056,323 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7376:Gars1
|
UTSW |
6 |
55,050,344 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7505:Gars1
|
UTSW |
6 |
55,029,162 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7579:Gars1
|
UTSW |
6 |
55,054,688 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7605:Gars1
|
UTSW |
6 |
55,054,735 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7728:Gars1
|
UTSW |
6 |
55,027,371 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7929:Gars1
|
UTSW |
6 |
55,040,102 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8014:Gars1
|
UTSW |
6 |
55,050,392 (GRCm39) |
missense |
probably benign |
|
|
R8391:Gars1
|
UTSW |
6 |
55,025,127 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8418:Gars1
|
UTSW |
6 |
55,042,446 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8704:Gars1
|
UTSW |
6 |
55,040,215 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9350:Gars1
|
UTSW |
6 |
55,029,249 (GRCm39) |
missense |
probably null |
0.57 |
|
| Posted On |
2013-12-03 |
Incidental Mutation