Incidental Mutation 'R1193:Rars1'
| ID |
100955 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rars1
|
| Ensembl Gene |
ENSMUSG00000018848 |
| Gene Name |
arginyl-tRNA synthetase 1 |
| Synonyms |
Rars, 2610037E21Rik, 2610011N19Rik |
| MMRRC Submission |
039265-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.965)
|
| Stock # |
R1193 (G1)
|
| Quality Score |
167 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
35699208-35725333 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 35700153 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Threonine
at position 548
(A548T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000018992
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000018992]
|
| AlphaFold |
Q9D0I9 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000018992
AA Change: A548T
PolyPhen 2
Score 0.915 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000018992
Gene: ENSMUSG00000018848
AA Change: A548T
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:Arg_tRNA_synt_N
|
16 |
60 |
6e-13 |
BLAST |
|
Arg_tRNA_synt_N
|
78 |
166 |
1.6e-27 |
SMART |
|
Pfam:tRNA-synt_1d
|
174 |
520 |
1.2e-164 |
PFAM |
|
DALR_1
|
534 |
660 |
3.12e-30 |
SMART |
|
| Coding Region Coverage |
- 1x: 98.9%
- 3x: 97.8%
- 10x: 94.5%
- 20x: 86.3%
|
| 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. Arginyl-tRNA synthetase belongs to the class-I aminoacyl-tRNA synthetase family. [provided by RefSeq, Jul 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 20 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Actl6a |
A |
G |
3: 32,766,293 (GRCm39) |
D49G |
probably benign |
Het |
| D6Ertd527e |
C |
G |
6: 87,088,506 (GRCm39) |
T223S |
unknown |
Het |
| Dna2 |
C |
T |
10: 62,784,966 (GRCm39) |
R28W |
probably benign |
Het |
| Gpm6a |
A |
T |
8: 55,500,268 (GRCm39) |
|
probably null |
Het |
| Nrbp1 |
T |
A |
5: 31,403,157 (GRCm39) |
I210N |
probably damaging |
Het |
| Nudt5 |
G |
A |
2: 5,868,411 (GRCm39) |
S103N |
probably benign |
Het |
| Or5an9 |
A |
T |
19: 12,187,803 (GRCm39) |
Y291F |
probably damaging |
Het |
| Or6z3 |
A |
G |
7: 6,463,715 (GRCm39) |
N69S |
probably benign |
Het |
| Pds5a |
G |
T |
5: 65,795,145 (GRCm39) |
A697E |
probably damaging |
Het |
| Pik3ca |
A |
G |
3: 32,510,242 (GRCm39) |
D806G |
probably damaging |
Het |
| Rfk |
C |
T |
19: 17,372,685 (GRCm39) |
P69L |
probably damaging |
Het |
| Shf |
G |
A |
2: 122,199,163 (GRCm39) |
P51S |
probably damaging |
Het |
| Sp4 |
C |
T |
12: 118,262,981 (GRCm39) |
R355H |
possibly damaging |
Het |
| Tcaim |
T |
C |
9: 122,647,895 (GRCm39) |
Y137H |
probably damaging |
Het |
| Tenm2 |
C |
T |
11: 35,954,004 (GRCm39) |
G1236R |
possibly damaging |
Het |
| Tmem150c |
T |
C |
5: 100,231,451 (GRCm39) |
T175A |
probably damaging |
Het |
| Twnk |
A |
G |
19: 44,996,229 (GRCm39) |
K221E |
probably damaging |
Het |
| Vmn2r67 |
T |
C |
7: 84,800,653 (GRCm39) |
K428E |
probably damaging |
Het |
| Vmn2r82 |
T |
A |
10: 79,213,739 (GRCm39) |
Y108* |
probably null |
Het |
| Wwox |
G |
A |
8: 115,406,614 (GRCm39) |
V202M |
probably benign |
Het |
|
| Other mutations in Rars1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01568:Rars1
|
APN |
11 |
35,716,808 (GRCm39) |
splice site |
probably benign |
|
|
IGL01672:Rars1
|
APN |
11 |
35,699,380 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01721:Rars1
|
APN |
11 |
35,719,491 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01887:Rars1
|
APN |
11 |
35,716,822 (GRCm39) |
missense |
probably benign |
0.03 |
|
IGL02605:Rars1
|
APN |
11 |
35,715,353 (GRCm39) |
splice site |
probably benign |
|
|
IGL03296:Rars1
|
APN |
11 |
35,707,523 (GRCm39) |
nonsense |
probably null |
|
|
IGL03354:Rars1
|
APN |
11 |
35,715,302 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0410:Rars1
|
UTSW |
11 |
35,716,847 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1222:Rars1
|
UTSW |
11 |
35,700,567 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1418:Rars1
|
UTSW |
11 |
35,700,567 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1562:Rars1
|
UTSW |
11 |
35,711,921 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1768:Rars1
|
UTSW |
11 |
35,700,465 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1800:Rars1
|
UTSW |
11 |
35,716,822 (GRCm39) |
missense |
probably benign |
0.03 |
|
R2055:Rars1
|
UTSW |
11 |
35,717,410 (GRCm39) |
splice site |
probably benign |
|
|
R2294:Rars1
|
UTSW |
11 |
35,708,363 (GRCm39) |
splice site |
probably benign |
|
|
R4281:Rars1
|
UTSW |
11 |
35,712,051 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4807:Rars1
|
UTSW |
11 |
35,699,973 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R4898:Rars1
|
UTSW |
11 |
35,699,385 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5522:Rars1
|
UTSW |
11 |
35,708,195 (GRCm39) |
nonsense |
probably null |
|
|
R5907:Rars1
|
UTSW |
11 |
35,719,475 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6243:Rars1
|
UTSW |
11 |
35,717,374 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
R6289:Rars1
|
UTSW |
11 |
35,716,894 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6550:Rars1
|
UTSW |
11 |
35,724,010 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6889:Rars1
|
UTSW |
11 |
35,699,313 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7260:Rars1
|
UTSW |
11 |
35,725,281 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7682:Rars1
|
UTSW |
11 |
35,719,579 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7808:Rars1
|
UTSW |
11 |
35,719,534 (GRCm39) |
missense |
probably benign |
|
|
R7822:Rars1
|
UTSW |
11 |
35,710,793 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7856:Rars1
|
UTSW |
11 |
35,699,412 (GRCm39) |
missense |
probably benign |
0.09 |
|
R8029:Rars1
|
UTSW |
11 |
35,711,992 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9094:Rars1
|
UTSW |
11 |
35,718,182 (GRCm39) |
splice site |
probably benign |
|
|
R9096:Rars1
|
UTSW |
11 |
35,718,256 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9300:Rars1
|
UTSW |
11 |
35,706,488 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Rars1
|
UTSW |
11 |
35,716,936 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TGCCAGCTCGTAAATGTAGTCACAG -3'
(R):5'- TGCATCAAATACGCCGACCTTTCTC -3'
Sequencing Primer
(F):5'- TCGTAAATGTAGTCACAGAGGGTG -3'
(R):5'- tttttgagccagagtcttgataac -3'
|
| Posted On |
2014-01-15 |
Incidental Mutation