Incidental Mutation 'R4378:Nars1'
ID |
325217 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Nars1
|
Ensembl Gene |
ENSMUSG00000024587 |
Gene Name |
asparaginyl-tRNA synthetase 1 |
Synonyms |
Nars, ASNRS |
MMRRC Submission |
041121-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.967)
|
Stock # |
R4378 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
18 |
Chromosomal Location |
64632726-64649586 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 64634424 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Histidine
at position 500
(Y500H)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000025483
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025483]
|
AlphaFold |
Q8BP47 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000025483
AA Change: Y500H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000025483 Gene: ENSMUSG00000024587 AA Change: Y500H
Domain | Start | End | E-Value | Type |
coiled coil region
|
80 |
112 |
N/A |
INTRINSIC |
Pfam:tRNA_anti-codon
|
139 |
219 |
1.2e-12 |
PFAM |
Pfam:tRNA-synt_2
|
236 |
554 |
1.8e-108 |
PFAM |
|
Meta Mutation Damage Score |
0.8841 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.8%
|
Validation Efficiency |
96% (47/49) |
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Aminoacyl-tRNA synthetases are a class of enzymes that charge tRNAs with their cognate amino acids. Asparaginyl-tRNA synthetase is localized to the cytoplasm and belongs to the class II family of tRNA synthetases. The N-terminal domain represents the signature sequence for the eukaryotic asparaginyl-tRNA synthetases. [provided by RefSeq, Jul 2008]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 43 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca13 |
A |
G |
11: 9,243,644 (GRCm39) |
K1836E |
probably benign |
Het |
Adora1 |
A |
G |
1: 134,130,948 (GRCm39) |
F241S |
probably damaging |
Het |
Akt1s1 |
C |
T |
7: 44,503,384 (GRCm39) |
T168M |
probably damaging |
Het |
Amigo1 |
C |
T |
3: 108,099,069 (GRCm39) |
|
probably benign |
Het |
Amigo2 |
A |
G |
15: 97,143,859 (GRCm39) |
F188L |
possibly damaging |
Het |
Armc2 |
T |
C |
10: 41,869,078 (GRCm39) |
T29A |
possibly damaging |
Het |
Axl |
G |
A |
7: 25,458,262 (GRCm39) |
A822V |
probably benign |
Het |
Borcs5 |
T |
C |
6: 134,621,292 (GRCm39) |
V21A |
probably benign |
Het |
Cdc42ep3 |
A |
G |
17: 79,642,408 (GRCm39) |
S171P |
probably benign |
Het |
Cmas |
T |
C |
6: 142,718,011 (GRCm39) |
|
probably benign |
Het |
Cyp4f40 |
A |
G |
17: 32,887,003 (GRCm39) |
N158S |
probably null |
Het |
Dnah6 |
G |
T |
6: 73,095,009 (GRCm39) |
N2139K |
probably benign |
Het |
Elmo1 |
A |
T |
13: 20,557,286 (GRCm39) |
H409L |
possibly damaging |
Het |
Exoc1l |
A |
G |
5: 76,648,380 (GRCm39) |
K62R |
probably damaging |
Het |
Exoc4 |
T |
A |
6: 33,792,622 (GRCm39) |
V584E |
probably damaging |
Het |
Gm9116 |
A |
G |
3: 93,817,786 (GRCm39) |
|
noncoding transcript |
Het |
Gxylt2 |
A |
G |
6: 100,710,161 (GRCm39) |
S101G |
probably benign |
Het |
Hsph1 |
C |
A |
5: 149,559,472 (GRCm39) |
E24* |
probably null |
Het |
Ighv1-56 |
C |
T |
12: 115,206,568 (GRCm39) |
E50K |
probably benign |
Het |
Kirrel1 |
C |
T |
3: 86,996,458 (GRCm39) |
M380I |
probably null |
Het |
Lrriq1 |
A |
T |
10: 103,038,225 (GRCm39) |
D859E |
probably damaging |
Het |
Mapk7 |
G |
A |
11: 61,384,493 (GRCm39) |
S71L |
probably damaging |
Het |
Or1j1 |
T |
C |
2: 36,702,481 (GRCm39) |
M208V |
probably benign |
Het |
Or5d20-ps1 |
G |
T |
2: 87,931,829 (GRCm39) |
N167K |
unknown |
Het |
Phc1 |
T |
C |
6: 122,311,966 (GRCm39) |
N64S |
possibly damaging |
Het |
Ppp4r3b |
T |
A |
11: 29,159,450 (GRCm39) |
N180K |
possibly damaging |
Het |
Primpol |
G |
A |
8: 47,029,218 (GRCm39) |
|
probably benign |
Het |
Prtg |
T |
C |
9: 72,750,042 (GRCm39) |
S149P |
possibly damaging |
Het |
Qrich2 |
T |
C |
11: 116,337,741 (GRCm39) |
S1916G |
probably damaging |
Het |
Rps6ka5 |
A |
T |
12: 100,564,196 (GRCm39) |
Y218N |
probably damaging |
Het |
Setbp1 |
T |
C |
18: 78,899,833 (GRCm39) |
D1278G |
possibly damaging |
Het |
Sirt1 |
C |
T |
10: 63,174,728 (GRCm39) |
A8T |
probably benign |
Het |
Sobp |
C |
T |
10: 42,897,300 (GRCm39) |
V762I |
probably damaging |
Het |
Sptan1 |
T |
C |
2: 29,915,581 (GRCm39) |
S1994P |
probably damaging |
Het |
Taok3 |
T |
C |
5: 117,347,636 (GRCm39) |
I87T |
probably damaging |
Het |
Tecta |
T |
C |
9: 42,278,004 (GRCm39) |
Y1168C |
probably damaging |
Het |
Trhr |
A |
G |
15: 44,061,023 (GRCm39) |
Y181C |
probably damaging |
Het |
Ube4b |
C |
T |
4: 149,468,255 (GRCm39) |
D174N |
probably damaging |
Het |
Ubr4 |
C |
T |
4: 139,137,751 (GRCm39) |
H1067Y |
possibly damaging |
Het |
Vmn2r86 |
A |
G |
10: 130,288,469 (GRCm39) |
I344T |
possibly damaging |
Het |
Vmn2r88 |
T |
A |
14: 51,650,746 (GRCm39) |
L153* |
probably null |
Het |
Zfp516 |
T |
A |
18: 83,005,305 (GRCm39) |
D736E |
probably benign |
Het |
Zfp612 |
G |
T |
8: 110,815,683 (GRCm39) |
V258F |
possibly damaging |
Het |
|
Other mutations in Nars1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01012:Nars1
|
APN |
18 |
64,638,039 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01962:Nars1
|
APN |
18 |
64,643,554 (GRCm39) |
missense |
probably benign |
0.00 |
IGL01968:Nars1
|
APN |
18 |
64,640,929 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02288:Nars1
|
APN |
18 |
64,643,606 (GRCm39) |
splice site |
probably benign |
|
IGL02366:Nars1
|
APN |
18 |
64,636,599 (GRCm39) |
missense |
possibly damaging |
0.70 |
IGL02948:Nars1
|
APN |
18 |
64,638,266 (GRCm39) |
missense |
possibly damaging |
0.66 |
FR4976:Nars1
|
UTSW |
18 |
64,643,516 (GRCm39) |
critical splice donor site |
probably benign |
|
R0591:Nars1
|
UTSW |
18 |
64,633,638 (GRCm39) |
missense |
probably damaging |
1.00 |
R1654:Nars1
|
UTSW |
18 |
64,645,120 (GRCm39) |
missense |
probably damaging |
1.00 |
R1691:Nars1
|
UTSW |
18 |
64,649,485 (GRCm39) |
critical splice donor site |
probably null |
|
R1954:Nars1
|
UTSW |
18 |
64,633,635 (GRCm39) |
missense |
probably damaging |
1.00 |
R2006:Nars1
|
UTSW |
18 |
64,638,099 (GRCm39) |
missense |
probably damaging |
1.00 |
R2516:Nars1
|
UTSW |
18 |
64,638,087 (GRCm39) |
missense |
probably damaging |
1.00 |
R3433:Nars1
|
UTSW |
18 |
64,642,374 (GRCm39) |
missense |
probably damaging |
1.00 |
R4667:Nars1
|
UTSW |
18 |
64,638,302 (GRCm39) |
missense |
possibly damaging |
0.93 |
R4737:Nars1
|
UTSW |
18 |
64,649,498 (GRCm39) |
missense |
probably benign |
|
R4877:Nars1
|
UTSW |
18 |
64,633,643 (GRCm39) |
nonsense |
probably null |
|
R5950:Nars1
|
UTSW |
18 |
64,643,556 (GRCm39) |
missense |
possibly damaging |
0.91 |
R6434:Nars1
|
UTSW |
18 |
64,640,872 (GRCm39) |
missense |
probably benign |
0.01 |
R6920:Nars1
|
UTSW |
18 |
64,634,471 (GRCm39) |
missense |
probably damaging |
0.99 |
R7082:Nars1
|
UTSW |
18 |
64,637,425 (GRCm39) |
missense |
possibly damaging |
0.68 |
R7132:Nars1
|
UTSW |
18 |
64,640,841 (GRCm39) |
critical splice donor site |
probably null |
|
R7504:Nars1
|
UTSW |
18 |
64,645,093 (GRCm39) |
missense |
probably benign |
0.22 |
R8120:Nars1
|
UTSW |
18 |
64,637,422 (GRCm39) |
missense |
probably benign |
0.19 |
R8343:Nars1
|
UTSW |
18 |
64,637,458 (GRCm39) |
missense |
probably benign |
0.01 |
R8429:Nars1
|
UTSW |
18 |
64,634,391 (GRCm39) |
missense |
probably damaging |
1.00 |
R8929:Nars1
|
UTSW |
18 |
64,644,895 (GRCm39) |
missense |
probably benign |
|
R9321:Nars1
|
UTSW |
18 |
64,637,950 (GRCm39) |
missense |
probably damaging |
1.00 |
R9397:Nars1
|
UTSW |
18 |
64,642,327 (GRCm39) |
missense |
probably benign |
0.30 |
|
Predicted Primers |
PCR Primer
(F):5'- CGAAACTGACGTATAACTGGGC -3'
(R):5'- TGAGTACTACTTGAACTTTGCGTAG -3'
Sequencing Primer
(F):5'- CTGACGTATAACTGGGCTAAAGAC -3'
(R):5'- GAACTTTGCGTAGTCACATAGC -3'
|
Posted On |
2015-07-06 |