Incidental Mutation 'R0746:Yars1'
| ID |
70123 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Yars1
|
| Ensembl Gene |
ENSMUSG00000028811 |
| Gene Name |
tyrosyl-tRNA synthetase 1 |
| Synonyms |
Yars |
| MMRRC Submission |
038927-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R0746 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
129083595-129113033 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 129091079 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Arginine
at position 162
(S162R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000101669
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000106054]
|
| AlphaFold |
Q91WQ3 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000106054
AA Change: S162R
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000101669
Gene: ENSMUSG00000028811
AA Change: S162R
| 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: S57R
|
| SMART Domains |
Protein: ENSMUSP00000118512
Gene: ENSMUSG00000028811
AA Change: S57R
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:tRNA-synt_1b
|
1 |
75 |
2.3e-11 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000140708
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.8%
- 10x: 97.5%
- 20x: 95.3%
|
| Validation Efficiency |
|
| 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: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4921513D11Rik |
T |
C |
17: 79,935,715 (GRCm39) |
|
probably benign |
Het |
| Acvr1 |
T |
C |
2: 58,390,562 (GRCm39) |
M1V |
probably null |
Het |
| Adamts10 |
T |
A |
17: 33,768,521 (GRCm39) |
C866* |
probably null |
Het |
| Adgrv1 |
G |
A |
13: 81,718,675 (GRCm39) |
P4S |
probably benign |
Het |
| Arhgef37 |
A |
G |
18: 61,651,064 (GRCm39) |
|
probably null |
Het |
| Arid4b |
A |
G |
13: 14,317,623 (GRCm39) |
T169A |
probably benign |
Het |
| Bltp3b |
T |
A |
10: 89,641,316 (GRCm39) |
I829K |
probably benign |
Het |
| Cabp7 |
A |
T |
11: 4,688,900 (GRCm39) |
I190N |
probably damaging |
Het |
| Capn13 |
A |
C |
17: 73,658,503 (GRCm39) |
D188E |
probably benign |
Het |
| Ces1d |
A |
G |
8: 93,916,096 (GRCm39) |
F177S |
probably damaging |
Het |
| Col1a2 |
G |
A |
6: 4,518,822 (GRCm39) |
|
probably benign |
Het |
| Csmd2 |
T |
A |
4: 128,308,090 (GRCm39) |
C1283S |
probably damaging |
Het |
| Cul1 |
T |
C |
6: 47,495,222 (GRCm39) |
|
probably null |
Het |
| F7 |
T |
G |
8: 13,084,740 (GRCm39) |
S255R |
probably benign |
Het |
| Fanci |
T |
A |
7: 79,089,429 (GRCm39) |
I955N |
probably damaging |
Het |
| Focad |
C |
A |
4: 88,315,451 (GRCm39) |
D1536E |
possibly damaging |
Het |
| Fus |
A |
G |
7: 127,584,596 (GRCm39) |
|
probably benign |
Het |
| Gpr146 |
C |
T |
5: 139,378,977 (GRCm39) |
R260W |
probably damaging |
Het |
| Grid1 |
T |
C |
14: 34,544,647 (GRCm39) |
F73L |
possibly damaging |
Het |
| Ilf2 |
T |
A |
3: 90,390,114 (GRCm39) |
V142D |
probably damaging |
Het |
| Kcna2 |
A |
G |
3: 107,012,484 (GRCm39) |
D355G |
probably benign |
Het |
| Mgat4c |
T |
C |
10: 102,224,548 (GRCm39) |
F254S |
probably damaging |
Het |
| Mrps10 |
A |
C |
17: 47,683,564 (GRCm39) |
R139S |
probably benign |
Het |
| Myh2 |
A |
G |
11: 67,064,257 (GRCm39) |
T71A |
probably benign |
Het |
| Myo1d |
A |
C |
11: 80,477,705 (GRCm39) |
Y893D |
possibly damaging |
Het |
| Ncapd2 |
T |
C |
6: 125,151,227 (GRCm39) |
E760G |
possibly damaging |
Het |
| Or10ab5 |
A |
T |
7: 108,245,248 (GRCm39) |
D178E |
probably damaging |
Het |
| Or11h6 |
T |
A |
14: 50,880,232 (GRCm39) |
|
probably null |
Het |
| Pkhd1 |
T |
A |
1: 20,268,331 (GRCm39) |
D3349V |
probably damaging |
Het |
| Ptprn2 |
A |
C |
12: 116,864,637 (GRCm39) |
M551L |
probably benign |
Het |
| Ptprq |
A |
G |
10: 107,353,692 (GRCm39) |
Y2275H |
probably damaging |
Het |
| Rfx7 |
A |
G |
9: 72,526,388 (GRCm39) |
T1193A |
probably benign |
Het |
| Rtl1 |
T |
C |
12: 109,559,394 (GRCm39) |
D815G |
probably damaging |
Het |
| Scn1a |
T |
A |
2: 66,181,470 (GRCm39) |
T18S |
probably benign |
Het |
| Septin5 |
T |
C |
16: 18,441,975 (GRCm39) |
H277R |
probably damaging |
Het |
| Sh3bp5l |
A |
G |
11: 58,237,173 (GRCm39) |
S377G |
probably benign |
Het |
| Snx2 |
T |
A |
18: 53,330,961 (GRCm39) |
I142K |
possibly damaging |
Het |
| Spata31d1a |
C |
A |
13: 59,850,077 (GRCm39) |
D684Y |
possibly damaging |
Het |
| Taar6 |
C |
A |
10: 23,861,258 (GRCm39) |
S96I |
probably benign |
Het |
| Thsd7b |
C |
A |
1: 130,116,268 (GRCm39) |
H1340Q |
probably benign |
Het |
| Tmem115 |
C |
T |
9: 107,415,198 (GRCm39) |
T329M |
probably benign |
Het |
| Tmem50b |
C |
T |
16: 91,378,578 (GRCm39) |
|
probably null |
Het |
| Wdr64 |
A |
T |
1: 175,620,539 (GRCm39) |
D316V |
possibly damaging |
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 |
|
R0023:Yars1
|
UTSW |
4 |
129,090,981 (GRCm39) |
missense |
probably benign |
0.08 |
|
R0646:Yars1
|
UTSW |
4 |
129,107,732 (GRCm39) |
unclassified |
probably benign |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGCATACCTGGACAACATGAAAGCC -3'
(R):5'- CCACCACAGTAAGAACTGCTGGAAG -3'
Sequencing Primer
(F):5'- ATGAAAGCCCCCTGGGAG -3'
(R):5'- CCAAAAGTTATGCGCTTCAAGG -3'
|
| Posted On |
2013-09-30 |
Incidental Mutation