Incidental Mutation 'R0023:Yars1'
| ID |
15198 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Yars1
|
| Ensembl Gene |
ENSMUSG00000028811 |
| Gene Name |
tyrosyl-tRNA synthetase 1 |
| Synonyms |
Yars |
| MMRRC Submission |
038318-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R0023 (G1)
|
| Quality Score |
|
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
129083595-129113033 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 129090981 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 130
(T130A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000101669
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000106054]
|
| AlphaFold |
Q91WQ3 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000106054
AA Change: T130A
PolyPhen 2
Score 0.084 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000101669
Gene: ENSMUSG00000028811
AA Change: T130A
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
5 |
26 |
N/A |
INTRINSIC |
|
Pfam:tRNA-synt_1b
|
67 |
358 |
1e-78 |
PFAM |
|
Pfam:tRNA_bind
|
406 |
502 |
7.1e-36 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000128287
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000133992
AA Change: T25A
|
| SMART Domains |
Protein: ENSMUSP00000118512
Gene: ENSMUSG00000028811
AA Change: T25A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:tRNA-synt_1b
|
1 |
75 |
2.3e-11 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000140708
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 78.2%
- 3x: 67.5%
- 10x: 40.9%
- 20x: 21.9%
|
| Validation Efficiency |
89% (77/87) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Aminoacyl-tRNA synthetases catalyze the aminoacylation of tRNA by their cognate amino acid. Because of their central role in linking amino acids with nucleotide triplets contained in tRNAs, aminoacyl-tRNA synthetases are thought to be among the first proteins that appeared in evolution. Tyrosyl-tRNA synthetase belongs to the class I tRNA synthetase family. Cytokine activities have also been observed for the human tyrosyl-tRNA synthetase, after it is split into two parts, an N-terminal fragment that harbors the catalytic site and a C-terminal fragment found only in the mammalian enzyme. The N-terminal fragment is an interleukin-8-like cytokine, whereas the released C-terminal fragment is an EMAP II-like cytokine. [provided by RefSeq, Jul 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aadacl4fm1 |
A |
C |
4: 144,255,567 (GRCm39) |
D329A |
probably damaging |
Het |
| Abcc12 |
T |
A |
8: 87,264,962 (GRCm39) |
H661L |
probably damaging |
Het |
| Acsbg2 |
C |
G |
17: 57,154,710 (GRCm39) |
A481P |
probably damaging |
Het |
| Aknad1 |
T |
A |
3: 108,688,501 (GRCm39) |
C610S |
probably benign |
Het |
| Anapc1 |
T |
A |
2: 128,520,138 (GRCm39) |
K226N |
probably damaging |
Het |
| Aqp11 |
A |
T |
7: 97,375,896 (GRCm39) |
I251N |
possibly damaging |
Het |
| Arid1a |
G |
T |
4: 133,418,487 (GRCm39) |
T1032K |
unknown |
Het |
| Atg16l1 |
T |
C |
1: 87,717,187 (GRCm39) |
V538A |
probably benign |
Het |
| Atp7b |
A |
T |
8: 22,501,089 (GRCm39) |
L938Q |
probably damaging |
Het |
| Bbs1 |
C |
T |
19: 4,956,042 (GRCm39) |
A44T |
probably damaging |
Het |
| Btbd9 |
A |
T |
17: 30,749,188 (GRCm39) |
V42E |
probably damaging |
Het |
| Carmil3 |
C |
G |
14: 55,730,333 (GRCm39) |
S15R |
probably damaging |
Het |
| Cfap44 |
T |
A |
16: 44,241,583 (GRCm39) |
F651L |
probably benign |
Het |
| Clcn3 |
A |
T |
8: 61,386,104 (GRCm39) |
|
probably benign |
Het |
| Copb1 |
A |
T |
7: 113,849,329 (GRCm39) |
D91E |
probably benign |
Het |
| Ctr9 |
G |
A |
7: 110,643,154 (GRCm39) |
A509T |
possibly damaging |
Het |
| Dst |
C |
T |
1: 34,228,200 (GRCm39) |
P1606L |
probably damaging |
Het |
| Emc1 |
A |
G |
4: 139,098,320 (GRCm39) |
D767G |
probably damaging |
Het |
| Fads1 |
G |
A |
19: 10,164,261 (GRCm39) |
|
probably benign |
Het |
| Fcgbpl1 |
A |
G |
7: 27,852,837 (GRCm39) |
K1375E |
probably benign |
Het |
| Frrs1 |
T |
C |
3: 116,690,437 (GRCm39) |
F27L |
probably damaging |
Het |
| Itga2 |
G |
A |
13: 115,007,032 (GRCm39) |
S432L |
possibly damaging |
Het |
| Lrig3 |
A |
C |
10: 125,846,088 (GRCm39) |
D839A |
probably damaging |
Het |
| Macf1 |
A |
T |
4: 123,382,107 (GRCm39) |
|
probably benign |
Het |
| Myo6 |
T |
C |
9: 80,190,816 (GRCm39) |
V789A |
possibly damaging |
Het |
| Nasp |
A |
G |
4: 116,462,968 (GRCm39) |
|
probably benign |
Het |
| Nsmaf |
A |
G |
4: 6,408,680 (GRCm39) |
Y700H |
probably damaging |
Het |
| Plekhs1 |
T |
G |
19: 56,466,948 (GRCm39) |
S260A |
probably damaging |
Het |
| Ptpro |
T |
A |
6: 137,420,592 (GRCm39) |
V1007D |
probably damaging |
Het |
| R3hdm1 |
T |
C |
1: 128,138,929 (GRCm39) |
|
probably benign |
Het |
| Rtcb |
A |
T |
10: 85,785,315 (GRCm39) |
|
probably benign |
Het |
| Suco |
A |
T |
1: 161,673,154 (GRCm39) |
|
probably null |
Het |
| Synrg |
G |
T |
11: 83,899,479 (GRCm39) |
D562Y |
probably damaging |
Het |
| Tfip11 |
T |
C |
5: 112,479,875 (GRCm39) |
S265P |
possibly damaging |
Het |
| Ucp3 |
G |
T |
7: 100,134,250 (GRCm39) |
V288L |
probably benign |
Het |
| Xylt1 |
G |
T |
7: 117,233,928 (GRCm39) |
G485V |
probably damaging |
Het |
| Zfp652 |
A |
T |
11: 95,644,295 (GRCm39) |
R205* |
probably null |
Het |
|
| Other mutations in Yars1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01681:Yars1
|
APN |
4 |
129,099,935 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02039:Yars1
|
APN |
4 |
129,109,052 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03324:Yars1
|
APN |
4 |
129,104,328 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0023:Yars1
|
UTSW |
4 |
129,090,981 (GRCm39) |
missense |
probably benign |
0.08 |
|
R0646:Yars1
|
UTSW |
4 |
129,107,732 (GRCm39) |
unclassified |
probably benign |
|
|
R0746:Yars1
|
UTSW |
4 |
129,091,079 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0894:Yars1
|
UTSW |
4 |
129,090,948 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R2115:Yars1
|
UTSW |
4 |
129,101,716 (GRCm39) |
splice site |
probably null |
|
|
R2134:Yars1
|
UTSW |
4 |
129,090,992 (GRCm39) |
nonsense |
probably null |
|
|
R2189:Yars1
|
UTSW |
4 |
129,099,982 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4190:Yars1
|
UTSW |
4 |
129,093,820 (GRCm39) |
nonsense |
probably null |
|
|
R4863:Yars1
|
UTSW |
4 |
129,083,675 (GRCm39) |
unclassified |
probably benign |
|
|
R4915:Yars1
|
UTSW |
4 |
129,104,384 (GRCm39) |
unclassified |
probably benign |
|
|
R5450:Yars1
|
UTSW |
4 |
129,091,039 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R5631:Yars1
|
UTSW |
4 |
129,103,542 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5789:Yars1
|
UTSW |
4 |
129,090,690 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6384:Yars1
|
UTSW |
4 |
129,090,771 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6837:Yars1
|
UTSW |
4 |
129,103,544 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R7713:Yars1
|
UTSW |
4 |
129,104,291 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8906:Yars1
|
UTSW |
4 |
129,090,747 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9115:Yars1
|
UTSW |
4 |
129,109,143 (GRCm39) |
missense |
probably benign |
0.20 |
|
| Posted On |
2012-12-12 |
Incidental Mutation