Incidental Mutation 'IGL03296:Rars1'
ID |
416076 |
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 # |
IGL03296
|
Quality Score |
|
Status
|
|
Chromosome |
11 |
Chromosomal Location |
35699208-35725333 bp(-) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
A to T
at 35707523 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Stop codon
at position 429
(Y429*)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000018992
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000018992]
|
AlphaFold |
Q9D0I9 |
Predicted Effect |
probably null
Transcript: ENSMUST00000018992
AA Change: Y429*
|
SMART Domains |
Protein: ENSMUSP00000018992 Gene: ENSMUSG00000018848 AA Change: Y429*
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: 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: 34 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adgrf1 |
T |
C |
17: 43,632,044 (GRCm39) |
|
probably benign |
Het |
Arhgef26 |
A |
G |
3: 62,330,926 (GRCm39) |
T547A |
probably damaging |
Het |
Cdc14a |
T |
A |
3: 116,090,807 (GRCm39) |
H375L |
probably benign |
Het |
Ddx43 |
T |
C |
9: 78,306,380 (GRCm39) |
|
probably null |
Het |
Dennd6a |
T |
C |
14: 26,338,115 (GRCm39) |
|
probably null |
Het |
Dock4 |
A |
T |
12: 40,783,256 (GRCm39) |
E730V |
possibly damaging |
Het |
Gpr55 |
A |
G |
1: 85,868,753 (GRCm39) |
L276S |
probably damaging |
Het |
Grid1 |
T |
C |
14: 35,302,524 (GRCm39) |
F930L |
possibly damaging |
Het |
Inf2 |
C |
T |
12: 112,570,642 (GRCm39) |
Q394* |
probably null |
Het |
Ints11 |
T |
C |
4: 155,969,780 (GRCm39) |
|
probably null |
Het |
Kcnd2 |
T |
C |
6: 21,714,208 (GRCm39) |
V397A |
probably damaging |
Het |
Lmntd1 |
A |
G |
6: 145,359,203 (GRCm39) |
F316L |
probably benign |
Het |
Loxl4 |
A |
T |
19: 42,587,262 (GRCm39) |
|
probably benign |
Het |
Lrrc37a |
C |
T |
11: 103,388,499 (GRCm39) |
E2309K |
unknown |
Het |
Lyl1 |
C |
T |
8: 85,429,300 (GRCm39) |
P3L |
possibly damaging |
Het |
Mindy4 |
T |
C |
6: 55,274,738 (GRCm39) |
|
probably null |
Het |
Mybpc2 |
A |
T |
7: 44,156,308 (GRCm39) |
I835N |
probably damaging |
Het |
Myo5a |
T |
C |
9: 75,023,484 (GRCm39) |
I15T |
probably damaging |
Het |
Nfkb2 |
A |
T |
19: 46,298,367 (GRCm39) |
D557V |
probably damaging |
Het |
Or11g27 |
A |
T |
14: 50,771,402 (GRCm39) |
I178L |
possibly damaging |
Het |
Pdk3 |
T |
C |
X: 92,875,503 (GRCm39) |
Y19C |
probably damaging |
Het |
Pdpr |
G |
T |
8: 111,841,430 (GRCm39) |
V221F |
probably damaging |
Het |
Rab6a |
T |
C |
7: 100,283,931 (GRCm39) |
Y128H |
probably benign |
Het |
Rsl24d1 |
T |
C |
9: 73,025,229 (GRCm39) |
|
probably null |
Het |
Slc7a9 |
T |
C |
7: 35,151,852 (GRCm39) |
F49S |
probably damaging |
Het |
St14 |
C |
T |
9: 31,020,008 (GRCm39) |
E34K |
probably damaging |
Het |
Tcp10b |
A |
G |
17: 13,292,443 (GRCm39) |
T289A |
probably damaging |
Het |
Tenm2 |
T |
C |
11: 35,942,852 (GRCm39) |
|
probably null |
Het |
Tshz3 |
A |
T |
7: 36,470,761 (GRCm39) |
T917S |
probably damaging |
Het |
Vrtn |
T |
A |
12: 84,695,622 (GRCm39) |
I124N |
probably damaging |
Het |
Vwa8 |
A |
G |
14: 79,420,540 (GRCm39) |
E1747G |
probably damaging |
Het |
Wdr33 |
A |
T |
18: 31,960,444 (GRCm39) |
Q36L |
probably benign |
Het |
Xpo5 |
C |
T |
17: 46,532,320 (GRCm39) |
R452* |
probably null |
Het |
Zdhhc8 |
A |
T |
16: 18,044,587 (GRCm39) |
L311Q |
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 |
IGL02605:Rars1
|
APN |
11 |
35,715,353 (GRCm39) |
splice site |
probably benign |
|
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 |
2016-08-02 |