Incidental Mutation 'R6550:Rars1'
ID |
521525 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Rars1
|
Ensembl Gene |
ENSMUSG00000018848 |
Gene Name |
arginyl-tRNA synthetase 1 |
Synonyms |
Rars, 2610037E21Rik, 2610011N19Rik |
MMRRC Submission |
044675-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.965)
|
Stock # |
R6550 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
11 |
Chromosomal Location |
35699208-35725333 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 35724010 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Valine
at position 57
(I57V)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000018992
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000018992]
|
AlphaFold |
Q9D0I9 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000018992
AA Change: I57V
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000018992 Gene: ENSMUSG00000018848 AA Change: I57V
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 |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000137815
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.4%
- 20x: 97.9%
|
Validation Efficiency |
98% (39/40) |
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: 40 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Apbb1ip |
A |
G |
2: 22,748,245 (GRCm39) |
D355G |
probably damaging |
Het |
Asz1 |
T |
C |
6: 18,051,380 (GRCm39) |
D433G |
probably damaging |
Het |
Atl3 |
A |
G |
19: 7,499,503 (GRCm39) |
T256A |
probably benign |
Het |
Atp8b4 |
T |
A |
2: 126,266,113 (GRCm39) |
T183S |
probably damaging |
Het |
Bahcc1 |
C |
T |
11: 120,167,477 (GRCm39) |
H1293Y |
possibly damaging |
Het |
Bin2 |
A |
G |
15: 100,543,358 (GRCm39) |
V243A |
probably benign |
Het |
Camta1 |
A |
C |
4: 151,222,832 (GRCm39) |
F908L |
probably damaging |
Het |
Cbx2 |
T |
C |
11: 118,919,851 (GRCm39) |
V472A |
possibly damaging |
Het |
Cd22 |
T |
C |
7: 30,576,977 (GRCm39) |
D110G |
probably benign |
Het |
Cfap69 |
A |
T |
5: 5,631,220 (GRCm39) |
D764E |
probably benign |
Het |
Col2a1 |
A |
G |
15: 97,874,674 (GRCm39) |
I1321T |
unknown |
Het |
Cyp2c67 |
G |
T |
19: 39,605,854 (GRCm39) |
Y347* |
probably null |
Het |
D630044L22Rik |
A |
T |
17: 26,180,628 (GRCm39) |
R66S |
possibly damaging |
Het |
Defa27 |
A |
C |
8: 21,806,340 (GRCm39) |
R46S |
possibly damaging |
Het |
E330034G19Rik |
A |
G |
14: 24,346,886 (GRCm39) |
M58V |
probably benign |
Het |
Efhb |
G |
T |
17: 53,728,968 (GRCm39) |
H574N |
probably benign |
Het |
Eml2 |
G |
A |
7: 18,935,088 (GRCm39) |
V432I |
probably damaging |
Het |
Erlin1 |
A |
T |
19: 44,025,602 (GRCm39) |
|
probably null |
Het |
Gm10912 |
C |
T |
2: 103,896,996 (GRCm39) |
T45I |
possibly damaging |
Het |
Hsh2d |
C |
A |
8: 72,952,297 (GRCm39) |
T156K |
probably benign |
Het |
Lrrc49 |
G |
T |
9: 60,584,430 (GRCm39) |
Q139K |
probably benign |
Het |
Map3k21 |
A |
G |
8: 126,664,031 (GRCm39) |
S531G |
probably damaging |
Het |
Mcm2 |
A |
G |
6: 88,863,941 (GRCm39) |
|
probably null |
Het |
Mtarc2 |
C |
A |
1: 184,551,539 (GRCm39) |
R299L |
probably damaging |
Het |
Myo9a |
T |
C |
9: 59,775,482 (GRCm39) |
F1031S |
probably damaging |
Het |
Or1o1 |
G |
A |
17: 37,716,796 (GRCm39) |
R119H |
probably benign |
Het |
Or2n1d |
C |
T |
17: 38,646,896 (GRCm39) |
P283S |
possibly damaging |
Het |
Pmfbp1 |
T |
C |
8: 110,246,839 (GRCm39) |
V237A |
possibly damaging |
Het |
Polrmt |
C |
A |
10: 79,575,514 (GRCm39) |
Q672H |
probably damaging |
Het |
Pp2d1 |
T |
C |
17: 53,822,604 (GRCm39) |
D154G |
probably damaging |
Het |
Selplg |
G |
A |
5: 113,958,210 (GRCm39) |
P32L |
probably benign |
Het |
Slc8b1 |
A |
G |
5: 120,662,082 (GRCm39) |
E257G |
probably damaging |
Het |
Spata31e3 |
G |
A |
13: 50,399,482 (GRCm39) |
P948L |
probably benign |
Het |
Tasor2 |
A |
G |
13: 3,640,519 (GRCm39) |
V206A |
possibly damaging |
Het |
Tmem161b |
C |
A |
13: 84,370,537 (GRCm39) |
|
probably benign |
Het |
Tmem87b |
T |
A |
2: 128,666,385 (GRCm39) |
H77Q |
possibly damaging |
Het |
Tpr |
C |
T |
1: 150,299,728 (GRCm39) |
L1200F |
probably damaging |
Het |
Trir |
G |
T |
8: 85,756,549 (GRCm39) |
V154L |
probably damaging |
Het |
Wdfy3 |
A |
G |
5: 102,101,032 (GRCm39) |
V195A |
probably benign |
Het |
Zdhhc5 |
T |
C |
2: 84,526,685 (GRCm39) |
I96V |
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 |
R1193:Rars1
|
UTSW |
11 |
35,700,153 (GRCm39) |
missense |
possibly damaging |
0.92 |
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 |
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'- CAGCATGGACATAAGCCTTTG -3'
(R):5'- TCCGGGAAGCATTTGTTTGAC -3'
Sequencing Primer
(F):5'- CTACTTAAAAGGGCCCTGGG -3'
(R):5'- GACCTGGAAAAGTTGCCTTTC -3'
|
Posted On |
2018-06-06 |