Incidental Mutation 'R1222:Rars1'
| ID |
152773 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rars1
|
| Ensembl Gene |
ENSMUSG00000018848 |
| Gene Name |
arginyl-tRNA synthetase 1 |
| Synonyms |
Rars, 2610037E21Rik, 2610011N19Rik |
| MMRRC Submission |
039291-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.965)
|
| Stock # |
R1222 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
35699208-35725333 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 35700567 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Asparagine
at position 505
(Y505N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000018992
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000018992]
|
| AlphaFold |
Q9D0I9 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000018992
AA Change: Y505N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000018992
Gene: ENSMUSG00000018848
AA Change: Y505N
| 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 |
|
| Meta Mutation Damage Score |
0.9685 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.5%
- 20x: 93.2%
|
| Validation Efficiency |
96% (54/56) |
| 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: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aadacl2fm3 |
T |
A |
3: 59,784,682 (GRCm39) |
L385* |
probably null |
Het |
| Abca9 |
T |
C |
11: 110,035,890 (GRCm39) |
|
probably benign |
Het |
| Abl1 |
T |
C |
2: 31,691,006 (GRCm39) |
S842P |
probably benign |
Het |
| Agrn |
C |
A |
4: 156,261,842 (GRCm39) |
V483L |
probably damaging |
Het |
| Ankrd13a |
T |
A |
5: 114,938,824 (GRCm39) |
C365* |
probably null |
Het |
| Ap2b1 |
T |
C |
11: 83,237,564 (GRCm39) |
S543P |
probably benign |
Het |
| Atic |
C |
T |
1: 71,598,438 (GRCm39) |
T67I |
probably damaging |
Het |
| Bhmt1b |
A |
G |
18: 87,775,458 (GRCm39) |
K327R |
probably damaging |
Het |
| Car9 |
G |
T |
4: 43,512,439 (GRCm39) |
|
probably null |
Het |
| Cux1 |
C |
T |
5: 136,304,003 (GRCm39) |
R1391Q |
probably benign |
Het |
| Cyp2a4 |
T |
C |
7: 26,008,013 (GRCm39) |
V140A |
possibly damaging |
Het |
| Dlgap3 |
A |
T |
4: 127,088,406 (GRCm39) |
M1L |
probably null |
Het |
| Dnah3 |
T |
C |
7: 119,689,899 (GRCm39) |
D2G |
probably benign |
Het |
| Erbb3 |
A |
C |
10: 128,407,534 (GRCm39) |
V938G |
probably damaging |
Het |
| Fam13a |
C |
T |
6: 58,912,707 (GRCm39) |
|
probably benign |
Het |
| Gata2 |
G |
A |
6: 88,177,323 (GRCm39) |
V118I |
probably benign |
Het |
| Gm2663 |
T |
C |
6: 40,972,975 (GRCm39) |
I211V |
probably benign |
Het |
| Izumo3 |
T |
A |
4: 92,033,284 (GRCm39) |
N104I |
probably damaging |
Het |
| Kifc1 |
G |
A |
17: 34,103,685 (GRCm39) |
R195C |
probably benign |
Het |
| Mctp2 |
T |
A |
7: 71,908,887 (GRCm39) |
H142L |
probably benign |
Het |
| Mmp10 |
T |
C |
9: 7,505,682 (GRCm39) |
|
probably benign |
Het |
| Mroh8 |
G |
A |
2: 157,083,774 (GRCm39) |
|
probably benign |
Het |
| Mylk |
T |
C |
16: 34,681,022 (GRCm39) |
V94A |
probably benign |
Het |
| Nol6 |
A |
T |
4: 41,120,760 (GRCm39) |
N396K |
probably benign |
Het |
| Nr4a2 |
A |
T |
2: 56,998,336 (GRCm39) |
N543K |
probably damaging |
Het |
| Nynrin |
T |
C |
14: 56,100,998 (GRCm39) |
S263P |
probably benign |
Het |
| Or10ag53 |
G |
T |
2: 87,082,766 (GRCm39) |
G162C |
probably benign |
Het |
| Or1e35 |
A |
T |
11: 73,798,240 (GRCm39) |
L26H |
probably damaging |
Het |
| Or5p68 |
T |
A |
7: 107,945,313 (GRCm39) |
I292F |
probably damaging |
Het |
| Or7d10 |
G |
A |
9: 19,832,344 (GRCm39) |
V280I |
possibly damaging |
Het |
| Pkhd1 |
T |
A |
1: 20,637,680 (GRCm39) |
R368S |
probably benign |
Het |
| Plekhg4 |
G |
A |
8: 106,105,742 (GRCm39) |
A736T |
probably benign |
Het |
| Plxna2 |
A |
G |
1: 194,482,957 (GRCm39) |
D1550G |
probably damaging |
Het |
| Qrfpr |
C |
A |
3: 36,234,244 (GRCm39) |
G366W |
probably damaging |
Het |
| Qser1 |
C |
A |
2: 104,607,776 (GRCm39) |
A1471S |
probably damaging |
Het |
| Reln |
T |
A |
5: 22,191,953 (GRCm39) |
T1496S |
probably null |
Het |
| Rrs1 |
T |
C |
1: 9,616,080 (GRCm39) |
L111P |
probably benign |
Het |
| Selplg |
C |
T |
5: 113,957,434 (GRCm39) |
V291M |
possibly damaging |
Het |
| Serpinb1c |
T |
A |
13: 33,080,934 (GRCm39) |
T50S |
possibly damaging |
Het |
| Slc4a5 |
A |
G |
6: 83,257,114 (GRCm39) |
K640E |
probably damaging |
Het |
| Szt2 |
A |
T |
4: 118,262,656 (GRCm39) |
H40Q |
possibly damaging |
Het |
| Taar4 |
C |
T |
10: 23,837,230 (GRCm39) |
T280I |
probably benign |
Het |
| Tdo2 |
A |
G |
3: 81,868,775 (GRCm39) |
|
probably null |
Het |
| Tpp1 |
T |
C |
7: 105,395,948 (GRCm39) |
N527S |
probably benign |
Het |
| Trim43c |
A |
T |
9: 88,725,131 (GRCm39) |
T218S |
possibly damaging |
Het |
| Trim45 |
G |
T |
3: 100,834,614 (GRCm39) |
M432I |
probably benign |
Het |
| Ubr4 |
T |
C |
4: 139,115,782 (GRCm39) |
|
probably null |
Het |
| Vat1l |
T |
C |
8: 115,009,101 (GRCm39) |
|
probably benign |
Het |
| Xpo7 |
A |
T |
14: 70,904,524 (GRCm39) |
H1037Q |
possibly damaging |
Het |
| Zmiz1 |
T |
C |
14: 25,658,520 (GRCm39) |
|
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 |
|
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'- AATGATCTTGGTTTCCCGAGCGGC -3'
(R):5'- TGCAGAACGAATCAGTTCGCTTCC -3'
Sequencing Primer
(F):5'- atcaagactctggctcaaaaac -3'
(R):5'- ATACAGTGGCCCTGTCACTC -3'
|
| Posted On |
2014-01-29 |
Incidental Mutation