Incidental Mutation 'IGL01962:Nars1'
| ID |
182422 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Nars1
|
| Ensembl Gene |
ENSMUSG00000024587 |
| Gene Name |
asparaginyl-tRNA synthetase 1 |
| Synonyms |
Nars, ASNRS |
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.969)
|
| Stock # |
IGL01962
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
18 |
| Chromosomal Location |
64632726-64649586 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 64643554 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Leucine
at position 142
(F142L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000025483
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025483]
|
| AlphaFold |
Q8BP47 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000025483
AA Change: F142L
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
| SMART Domains |
Protein: ENSMUSP00000025483
Gene: ENSMUSG00000024587
AA Change: F142L
| 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 |
|
| 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 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: 27 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcg1 |
T |
C |
17: 31,324,514 (GRCm39) |
F253S |
probably benign |
Het |
| AI429214 |
T |
A |
8: 37,461,383 (GRCm39) |
I177N |
probably damaging |
Het |
| Astn1 |
C |
A |
1: 158,496,201 (GRCm39) |
T1077K |
probably damaging |
Het |
| Asxl3 |
A |
T |
18: 22,655,502 (GRCm39) |
I1171L |
probably benign |
Het |
| Cdca2 |
A |
T |
14: 67,943,172 (GRCm39) |
S206T |
probably damaging |
Het |
| Chd3 |
T |
C |
11: 69,248,319 (GRCm39) |
M858V |
possibly damaging |
Het |
| Cyp2j12 |
C |
T |
4: 95,987,999 (GRCm39) |
A464T |
probably benign |
Het |
| Fryl |
A |
T |
5: 73,190,134 (GRCm39) |
D2787E |
possibly damaging |
Het |
| Hmx3 |
G |
A |
7: 131,146,000 (GRCm39) |
R236H |
probably damaging |
Het |
| Il1rap |
T |
A |
16: 26,529,318 (GRCm39) |
C330* |
probably null |
Het |
| Klrc1 |
A |
T |
6: 129,655,865 (GRCm39) |
N3K |
probably damaging |
Het |
| Nipal1 |
A |
G |
5: 72,825,401 (GRCm39) |
S365G |
possibly damaging |
Het |
| Or1n1 |
T |
A |
2: 36,749,787 (GRCm39) |
H191L |
probably benign |
Het |
| Or2ag15 |
G |
A |
7: 106,340,991 (GRCm39) |
T50I |
probably benign |
Het |
| Or51s1 |
T |
G |
7: 102,559,054 (GRCm39) |
|
probably benign |
Het |
| Or8k17 |
C |
A |
2: 86,066,456 (GRCm39) |
R234M |
probably damaging |
Het |
| Pcdhb4 |
A |
G |
18: 37,442,057 (GRCm39) |
T456A |
possibly damaging |
Het |
| Pcdhb5 |
G |
A |
18: 37,454,093 (GRCm39) |
D158N |
probably damaging |
Het |
| Pcsk2 |
C |
T |
2: 143,655,552 (GRCm39) |
Q579* |
probably null |
Het |
| Phactr4 |
G |
A |
4: 132,091,086 (GRCm39) |
R577W |
probably damaging |
Het |
| Rbms3 |
T |
C |
9: 116,524,879 (GRCm39) |
|
probably benign |
Het |
| Rxfp1 |
T |
G |
3: 79,594,175 (GRCm39) |
D73A |
probably damaging |
Het |
| Scmh1 |
A |
T |
4: 120,340,781 (GRCm39) |
|
probably benign |
Het |
| Syk |
T |
G |
13: 52,764,993 (GRCm39) |
L40R |
probably damaging |
Het |
| Tcn2 |
T |
C |
11: 3,875,072 (GRCm39) |
N153S |
probably benign |
Het |
| Tnks |
A |
G |
8: 35,336,678 (GRCm39) |
L502P |
probably damaging |
Het |
| Vmn2r111 |
A |
G |
17: 22,767,265 (GRCm39) |
V744A |
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 |
|
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 |
|
R4378:Nars1
|
UTSW |
18 |
64,634,424 (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 |
|
| Posted On |
2014-05-07 |
Incidental Mutation