Incidental Mutation 'IGL01568:Rars1'
| ID |
91076 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Rars1
|
| Ensembl Gene |
ENSMUSG00000018848 |
| Gene Name |
arginyl-tRNA synthetase 1 |
| Synonyms |
Rars, 2610037E21Rik, 2610011N19Rik |
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.965)
|
| Stock # |
IGL01568
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
11 |
| Chromosomal Location |
35699208-35725333 bp(-) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
A to G
at 35716808 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000018992
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000018992]
|
| AlphaFold |
Q9D0I9 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000018992
|
| SMART Domains |
Protein: ENSMUSP00000018992
Gene: ENSMUSG00000018848
| 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
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000165817
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000166122
|
| Coding Region Coverage |
|
| 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: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Akap13 |
T |
A |
7: 75,258,270 (GRCm39) |
L298* |
probably null |
Het |
| Capn15 |
G |
T |
17: 26,184,419 (GRCm39) |
R21S |
probably damaging |
Het |
| Cbs |
A |
G |
17: 31,840,488 (GRCm39) |
L290P |
possibly damaging |
Het |
| Dnah5 |
T |
C |
15: 28,229,798 (GRCm39) |
I144T |
probably benign |
Het |
| Dok4 |
T |
A |
8: 95,593,430 (GRCm39) |
I119F |
probably benign |
Het |
| Dpp9 |
T |
C |
17: 56,498,159 (GRCm39) |
N599S |
probably benign |
Het |
| Ep400 |
T |
C |
5: 110,867,361 (GRCm39) |
T984A |
unknown |
Het |
| Fcrl2 |
T |
C |
3: 87,163,986 (GRCm39) |
N381S |
probably damaging |
Het |
| Fhod3 |
A |
G |
18: 25,253,219 (GRCm39) |
I1390V |
probably benign |
Het |
| Gabbr1 |
A |
G |
17: 37,381,561 (GRCm39) |
Y775C |
probably damaging |
Het |
| Gimap9 |
A |
G |
6: 48,654,550 (GRCm39) |
T46A |
probably benign |
Het |
| Gm3696 |
T |
C |
14: 18,435,020 (GRCm39) |
N88S |
probably benign |
Het |
| Gm5277 |
A |
G |
3: 78,799,743 (GRCm39) |
|
noncoding transcript |
Het |
| Gpr153 |
C |
A |
4: 152,366,825 (GRCm39) |
|
probably null |
Het |
| Hgf |
A |
T |
5: 16,769,812 (GRCm39) |
K95N |
probably damaging |
Het |
| Igf2r |
A |
G |
17: 12,902,872 (GRCm39) |
S2393P |
possibly damaging |
Het |
| Ikbke |
C |
A |
1: 131,185,633 (GRCm39) |
|
probably null |
Het |
| Il17re |
G |
T |
6: 113,447,013 (GRCm39) |
R588L |
probably damaging |
Het |
| Itch |
T |
C |
2: 155,054,382 (GRCm39) |
|
probably benign |
Het |
| Krt1c |
T |
A |
15: 101,721,646 (GRCm39) |
D465V |
probably damaging |
Het |
| Krt28 |
G |
T |
11: 99,262,243 (GRCm39) |
P249Q |
probably damaging |
Het |
| Lax1 |
A |
T |
1: 133,608,038 (GRCm39) |
D234E |
probably benign |
Het |
| Mtmr3 |
A |
G |
11: 4,477,861 (GRCm39) |
I61T |
probably damaging |
Het |
| Naip5 |
G |
T |
13: 100,353,609 (GRCm39) |
Q1217K |
probably benign |
Het |
| Nt5dc3 |
A |
G |
10: 86,669,802 (GRCm39) |
T466A |
probably benign |
Het |
| Or5bw2 |
A |
T |
7: 6,573,569 (GRCm39) |
H193L |
possibly damaging |
Het |
| Or8s2 |
T |
C |
15: 98,276,787 (GRCm39) |
D68G |
probably damaging |
Het |
| Pcdhb3 |
T |
C |
18: 37,435,054 (GRCm39) |
V340A |
possibly damaging |
Het |
| Pclo |
C |
T |
5: 14,728,443 (GRCm39) |
|
probably benign |
Het |
| Piezo2 |
C |
T |
18: 63,163,463 (GRCm39) |
V2152I |
probably benign |
Het |
| Pip4k2b |
A |
T |
11: 97,620,378 (GRCm39) |
|
probably null |
Het |
| Ptprs |
G |
A |
17: 56,720,958 (GRCm39) |
H1432Y |
probably damaging |
Het |
| Scrn1 |
A |
G |
6: 54,499,739 (GRCm39) |
|
probably benign |
Het |
| Sdr42e1 |
T |
C |
8: 118,390,182 (GRCm39) |
Y153C |
probably damaging |
Het |
| Slc18a1 |
A |
T |
8: 69,518,278 (GRCm39) |
S245R |
probably damaging |
Het |
| Spmip4 |
A |
G |
6: 50,550,678 (GRCm39) |
|
probably benign |
Het |
| Tns1 |
T |
G |
1: 73,992,668 (GRCm39) |
D670A |
probably damaging |
Het |
| Trim16 |
T |
A |
11: 62,711,684 (GRCm39) |
D118E |
probably benign |
Het |
| Trpv1 |
A |
G |
11: 73,129,269 (GRCm39) |
D62G |
probably benign |
Het |
| Tyr |
A |
G |
7: 87,087,156 (GRCm39) |
L452P |
probably damaging |
Het |
| Ubr4 |
T |
C |
4: 139,148,684 (GRCm39) |
C1723R |
probably damaging |
Het |
| Uqcrb |
G |
A |
13: 67,049,459 (GRCm39) |
|
probably benign |
Het |
| Vax2 |
G |
T |
6: 83,688,519 (GRCm39) |
V81L |
possibly damaging |
Het |
| Zan |
A |
G |
5: 137,463,106 (GRCm39) |
V691A |
unknown |
Het |
| Zfp335 |
A |
G |
2: 164,736,708 (GRCm39) |
S976P |
possibly damaging |
Het |
| Zfp384 |
C |
T |
6: 125,001,095 (GRCm39) |
P56S |
probably damaging |
Het |
|
| Other mutations in Rars1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
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 |
|
|
| Posted On |
2013-12-09 |
Incidental Mutation