Incidental Mutation 'IGL03264:Dars1'
| ID |
414994 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Dars1
|
| Ensembl Gene |
ENSMUSG00000026356 |
| Gene Name |
aspartyl-tRNA synthetase 1 |
| Synonyms |
5730439G15Rik, Dars |
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.960)
|
| Stock # |
IGL03264
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
1 |
| Chromosomal Location |
128291444-128345105 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 128341427 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Cysteine
at position 63
(R63C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000066866
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027602]
[ENSMUST00000064309]
|
| AlphaFold |
Q922B2 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000027602
AA Change: R63C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000027602
Gene: ENSMUSG00000026356
AA Change: R63C
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:tRNA_anti-codon
|
60 |
145 |
4.6e-10 |
PFAM |
|
Pfam:tRNA-synt_2
|
175 |
496 |
2.3e-77 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000064309
AA Change: R63C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000066866
Gene: ENSMUSG00000026356
AA Change: R63C
| Domain | Start | End | E-Value | Type |
|---|
|
PDB:4J15|B
|
1 |
72 |
7e-39 |
PDB |
|
SCOP:d1eova1
|
25 |
72 |
1e-3 |
SMART |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of a multienzyme complex that functions in mediating the attachment of amino acids to their cognate tRNAs. The encoded protein ligates L-aspartate to tRNA(Asp). Mutations in this gene have been found in patients showing hypomyelination with brainstem and spinal cord involvement and leg spasticity. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2014]
PHENOTYPE: Mice homozygous for a knock-out allele die between E11 and E14. Mice heterozygous for the allele exhibit decreased PPI. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcg1 |
T |
G |
17: 31,283,428 (GRCm39) |
S38A |
probably benign |
Het |
| Alkbh1 |
T |
G |
12: 87,478,197 (GRCm39) |
D238A |
probably damaging |
Het |
| Arhgef17 |
A |
T |
7: 100,529,220 (GRCm39) |
D1531E |
probably benign |
Het |
| Bltp1 |
A |
T |
3: 37,056,784 (GRCm39) |
I3152F |
probably damaging |
Het |
| Cacng3 |
G |
T |
7: 122,271,180 (GRCm39) |
G62W |
probably damaging |
Het |
| Cdh22 |
T |
C |
2: 164,958,093 (GRCm39) |
I625V |
probably benign |
Het |
| Ces5a |
T |
C |
8: 94,228,898 (GRCm39) |
N444S |
possibly damaging |
Het |
| Chst13 |
A |
T |
6: 90,286,193 (GRCm39) |
Y256* |
probably null |
Het |
| Clcn5 |
T |
A |
X: 7,044,613 (GRCm39) |
H177L |
probably benign |
Het |
| Dcun1d4 |
A |
G |
5: 73,677,572 (GRCm39) |
S84G |
probably benign |
Het |
| Dcxr |
T |
C |
11: 120,617,298 (GRCm39) |
N82D |
probably damaging |
Het |
| Eef1a2 |
C |
A |
2: 180,790,527 (GRCm39) |
K376N |
possibly damaging |
Het |
| Efhc1 |
G |
A |
1: 21,037,715 (GRCm39) |
M297I |
probably benign |
Het |
| Etfb |
G |
T |
7: 43,101,897 (GRCm39) |
V64F |
probably damaging |
Het |
| Fam135b |
A |
C |
15: 71,334,637 (GRCm39) |
N852K |
probably benign |
Het |
| Gigyf2 |
T |
C |
1: 87,376,790 (GRCm39) |
|
probably benign |
Het |
| Gria4 |
T |
C |
9: 4,513,288 (GRCm39) |
K274E |
probably benign |
Het |
| Irag1 |
A |
T |
7: 110,525,553 (GRCm39) |
S200T |
probably benign |
Het |
| Itgae |
A |
G |
11: 73,006,400 (GRCm39) |
E356G |
possibly damaging |
Het |
| Med12l |
C |
T |
3: 59,208,788 (GRCm39) |
Q2139* |
probably null |
Het |
| Plxna4 |
A |
G |
6: 32,155,337 (GRCm39) |
F1536L |
possibly damaging |
Het |
| Pramel19 |
A |
T |
4: 101,798,329 (GRCm39) |
Q100L |
probably damaging |
Het |
| Rmnd5a |
A |
G |
6: 71,370,119 (GRCm39) |
I389T |
probably damaging |
Het |
| Rnf128 |
T |
G |
X: 138,511,985 (GRCm39) |
V144G |
probably damaging |
Het |
| Rpgrip1 |
A |
G |
14: 52,378,109 (GRCm39) |
T486A |
possibly damaging |
Het |
| Rps6kc1 |
T |
C |
1: 190,604,026 (GRCm39) |
T199A |
probably benign |
Het |
| Skint5 |
T |
A |
4: 113,343,854 (GRCm39) |
D1338V |
unknown |
Het |
| Slc35g2 |
A |
T |
9: 100,434,699 (GRCm39) |
I324K |
possibly damaging |
Het |
| Slc4a5 |
G |
A |
6: 83,238,507 (GRCm39) |
R225H |
probably damaging |
Het |
| Srgap3 |
A |
T |
6: 112,793,636 (GRCm39) |
H113Q |
probably damaging |
Het |
| Stpg2 |
A |
C |
3: 139,014,970 (GRCm39) |
K378N |
possibly damaging |
Het |
| Svep1 |
A |
G |
4: 58,066,422 (GRCm39) |
|
probably benign |
Het |
| Utp11 |
T |
C |
4: 124,573,521 (GRCm39) |
K218E |
probably damaging |
Het |
| Vmn2r53 |
T |
A |
7: 12,315,819 (GRCm39) |
I667F |
possibly damaging |
Het |
| Wdfy3 |
A |
G |
5: 102,048,016 (GRCm39) |
L1763P |
probably damaging |
Het |
| Wnt2 |
A |
G |
6: 17,989,959 (GRCm39) |
Y313H |
probably benign |
Het |
| Zfp638 |
T |
C |
6: 83,923,229 (GRCm39) |
S676P |
probably benign |
Het |
| Zfp747l1 |
A |
G |
7: 126,984,811 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Dars1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01660:Dars1
|
APN |
1 |
128,343,081 (GRCm39) |
splice site |
probably benign |
|
|
IGL02260:Dars1
|
APN |
1 |
128,299,898 (GRCm39) |
missense |
probably benign |
0.19 |
|
R0308:Dars1
|
UTSW |
1 |
128,291,996 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0609:Dars1
|
UTSW |
1 |
128,333,118 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1148:Dars1
|
UTSW |
1 |
128,294,646 (GRCm39) |
splice site |
probably benign |
|
|
R1598:Dars1
|
UTSW |
1 |
128,301,709 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2092:Dars1
|
UTSW |
1 |
128,301,755 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2140:Dars1
|
UTSW |
1 |
128,299,899 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2196:Dars1
|
UTSW |
1 |
128,306,595 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4735:Dars1
|
UTSW |
1 |
128,303,971 (GRCm39) |
nonsense |
probably null |
|
|
R5294:Dars1
|
UTSW |
1 |
128,292,039 (GRCm39) |
missense |
probably benign |
0.02 |
|
R5521:Dars1
|
UTSW |
1 |
128,301,710 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6137:Dars1
|
UTSW |
1 |
128,296,176 (GRCm39) |
missense |
probably benign |
0.44 |
|
R6784:Dars1
|
UTSW |
1 |
128,319,084 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6899:Dars1
|
UTSW |
1 |
128,341,483 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R7284:Dars1
|
UTSW |
1 |
128,300,004 (GRCm39) |
missense |
probably benign |
|
|
R7437:Dars1
|
UTSW |
1 |
128,299,941 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R7562:Dars1
|
UTSW |
1 |
128,294,763 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R8169:Dars1
|
UTSW |
1 |
128,304,002 (GRCm39) |
missense |
probably null |
|
|
R8223:Dars1
|
UTSW |
1 |
128,299,961 (GRCm39) |
missense |
probably benign |
0.06 |
|
R9027:Dars1
|
UTSW |
1 |
128,296,163 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
R9192:Dars1
|
UTSW |
1 |
128,299,889 (GRCm39) |
missense |
probably benign |
0.03 |
|
R9377:Dars1
|
UTSW |
1 |
128,344,945 (GRCm39) |
missense |
probably benign |
|
|
R9567:Dars1
|
UTSW |
1 |
128,343,112 (GRCm39) |
missense |
|
|
|
R9712:Dars1
|
UTSW |
1 |
128,333,199 (GRCm39) |
missense |
probably benign |
0.00 |
|
Z1176:Dars1
|
UTSW |
1 |
128,299,944 (GRCm39) |
nonsense |
probably null |
|
|
| Posted On |
2016-08-02 |
Incidental Mutation