Incidental Mutation 'IGL01887:Rars1'
| ID |
179176 |
| 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 # |
IGL01887
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
11 |
| Chromosomal Location |
35699208-35725333 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 35716822 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 231
(D231E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000018992
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000018992]
|
| AlphaFold |
Q9D0I9 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000018992
AA Change: D231E
PolyPhen 2
Score 0.032 (Sensitivity: 0.95; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000018992
Gene: ENSMUSG00000018848
AA Change: D231E
| 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: 20 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Appl2 |
C |
A |
10: 83,457,386 (GRCm39) |
|
probably benign |
Het |
| Atosa |
A |
G |
9: 74,924,339 (GRCm39) |
I861V |
probably benign |
Het |
| Faap20 |
T |
C |
4: 155,340,657 (GRCm39) |
V158A |
probably damaging |
Het |
| Filip1 |
A |
T |
9: 79,726,899 (GRCm39) |
D573E |
probably benign |
Het |
| Gm10717 |
C |
T |
9: 3,025,616 (GRCm39) |
S67L |
probably benign |
Het |
| Gm10718 |
A |
T |
9: 3,025,118 (GRCm39) |
Y194F |
probably benign |
Het |
| Lins1 |
T |
C |
7: 66,360,129 (GRCm39) |
I168T |
probably damaging |
Het |
| Myo5b |
A |
G |
18: 74,848,007 (GRCm39) |
R1082G |
probably benign |
Het |
| Or5aq1 |
A |
G |
2: 86,965,885 (GRCm39) |
I260T |
possibly damaging |
Het |
| Or8k39 |
A |
G |
2: 86,563,030 (GRCm39) |
C309R |
probably benign |
Het |
| Pomt2 |
C |
T |
12: 87,166,363 (GRCm39) |
V439I |
probably damaging |
Het |
| Shisal1 |
A |
G |
15: 84,290,851 (GRCm39) |
L152P |
probably damaging |
Het |
| Slf1 |
A |
T |
13: 77,249,101 (GRCm39) |
N362K |
probably benign |
Het |
| Smad2 |
T |
C |
18: 76,432,965 (GRCm39) |
V299A |
probably damaging |
Het |
| Tead2 |
T |
C |
7: 44,881,734 (GRCm39) |
V84A |
probably damaging |
Het |
| Tnni3k |
A |
T |
3: 154,580,824 (GRCm39) |
|
probably null |
Het |
| Trp63 |
C |
T |
16: 25,684,069 (GRCm39) |
R319C |
probably damaging |
Het |
| Vmn1r203 |
G |
A |
13: 22,709,046 (GRCm39) |
V276I |
probably benign |
Het |
| Vmn2r129 |
C |
T |
4: 156,690,549 (GRCm39) |
|
noncoding transcript |
Het |
| Zfp318 |
G |
T |
17: 46,710,094 (GRCm39) |
V606L |
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 |
|
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 |
2014-05-07 |
Incidental Mutation