Incidental Mutation 'IGL02605:Rars1'
| ID |
300250 |
| 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: 0.962)
|
| Stock # |
IGL02605
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
11 |
| Chromosomal Location |
35699208-35725333 bp(-) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
G to A
at 35715353 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: ENSMUST00000143205
|
| 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: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abtb2 |
A |
T |
2: 103,547,602 (GRCm39) |
Y992F |
probably benign |
Het |
| Adgrg6 |
T |
A |
10: 14,342,976 (GRCm39) |
N324Y |
probably damaging |
Het |
| Ampd3 |
T |
C |
7: 110,394,965 (GRCm39) |
F305L |
probably benign |
Het |
| Ankrd35 |
A |
G |
3: 96,588,388 (GRCm39) |
|
probably null |
Het |
| Api5 |
A |
G |
2: 94,260,064 (GRCm39) |
I64T |
possibly damaging |
Het |
| Arhgap21 |
A |
G |
2: 20,860,399 (GRCm39) |
I1165T |
probably damaging |
Het |
| Bdp1 |
T |
C |
13: 100,214,623 (GRCm39) |
|
probably null |
Het |
| Capn3 |
T |
A |
2: 120,326,518 (GRCm39) |
I570N |
probably damaging |
Het |
| Catsperg2 |
T |
C |
7: 29,418,990 (GRCm39) |
H232R |
possibly damaging |
Het |
| Clcn7 |
T |
C |
17: 25,365,792 (GRCm39) |
L156P |
possibly damaging |
Het |
| Cpa3 |
C |
A |
3: 20,276,376 (GRCm39) |
V286F |
probably benign |
Het |
| Csrnp3 |
G |
A |
2: 65,853,153 (GRCm39) |
C527Y |
probably damaging |
Het |
| Dock5 |
A |
T |
14: 68,065,887 (GRCm39) |
V372E |
probably benign |
Het |
| Elmo1 |
T |
C |
13: 20,789,372 (GRCm39) |
L696P |
probably damaging |
Het |
| Fam91a1 |
T |
C |
15: 58,303,045 (GRCm39) |
|
probably benign |
Het |
| Gm12695 |
T |
A |
4: 96,650,988 (GRCm39) |
D155V |
probably null |
Het |
| Hspa4l |
A |
G |
3: 40,736,055 (GRCm39) |
I559V |
probably benign |
Het |
| Kdm1a |
G |
T |
4: 136,278,348 (GRCm39) |
|
probably benign |
Het |
| Lrrc8d |
A |
T |
5: 105,974,683 (GRCm39) |
|
noncoding transcript |
Het |
| Minpp1 |
A |
T |
19: 32,475,815 (GRCm39) |
Y316F |
possibly damaging |
Het |
| Neto2 |
T |
C |
8: 86,390,064 (GRCm39) |
|
probably benign |
Het |
| Nrxn2 |
T |
A |
19: 6,500,610 (GRCm39) |
D277E |
probably benign |
Het |
| Ola1 |
A |
G |
2: 72,972,644 (GRCm39) |
|
probably benign |
Het |
| Or4k48 |
A |
G |
2: 111,475,850 (GRCm39) |
V164A |
probably benign |
Het |
| Or51r1 |
T |
C |
7: 102,228,602 (GRCm39) |
I300T |
probably damaging |
Het |
| Or8c15 |
T |
A |
9: 38,120,532 (GRCm39) |
M61K |
probably damaging |
Het |
| Pam |
A |
G |
1: 97,768,064 (GRCm39) |
V722A |
possibly damaging |
Het |
| Pfdn6 |
T |
C |
17: 34,158,077 (GRCm39) |
Y90C |
probably benign |
Het |
| Pkhd1 |
T |
A |
1: 20,621,126 (GRCm39) |
H844L |
possibly damaging |
Het |
| Plk5 |
G |
A |
10: 80,198,896 (GRCm39) |
V422M |
probably damaging |
Het |
| Psmc1 |
G |
T |
12: 100,085,386 (GRCm39) |
R249L |
probably damaging |
Het |
| Ptpro |
C |
T |
6: 137,357,316 (GRCm39) |
P269L |
probably benign |
Het |
| Ralgapa1 |
G |
T |
12: 55,759,450 (GRCm39) |
H1480Q |
possibly damaging |
Het |
| Rbm48 |
G |
A |
5: 3,640,600 (GRCm39) |
R260C |
possibly damaging |
Het |
| Smarcc1 |
C |
T |
9: 110,051,068 (GRCm39) |
H963Y |
possibly damaging |
Het |
| Spef2 |
T |
C |
15: 9,725,238 (GRCm39) |
E230G |
probably damaging |
Het |
| Spg11 |
A |
G |
2: 121,922,741 (GRCm39) |
S903P |
probably benign |
Het |
| Tas2r122 |
T |
C |
6: 132,688,572 (GRCm39) |
Y107C |
probably damaging |
Het |
| Tpm3 |
C |
A |
3: 89,995,753 (GRCm39) |
N204K |
probably benign |
Het |
| Wdr36 |
T |
C |
18: 32,985,044 (GRCm39) |
I450T |
possibly damaging |
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 |
|
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 |
2015-04-16 |
Incidental Mutation