Incidental Mutation 'IGL01660:Dars1'
| ID |
103153 |
| 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: 0.955)
|
| Stock # |
IGL01660
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
1 |
| Chromosomal Location |
128291444-128345105 bp(-) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
A to G
at 128343081 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000066866
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027602]
[ENSMUST00000064309]
|
| AlphaFold |
Q922B2 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000027602
|
| SMART Domains |
Protein: ENSMUSP00000027602
Gene: ENSMUSG00000026356
| 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 benign
Transcript: ENSMUST00000064309
|
| SMART Domains |
Protein: ENSMUSP00000066866
Gene: ENSMUSG00000026356
| 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 |
|---|
| Acta2 |
A |
G |
19: 34,229,191 (GRCm39) |
I66T |
probably damaging |
Het |
| Actl11 |
T |
C |
9: 107,806,247 (GRCm39) |
V190A |
probably benign |
Het |
| Ankub1 |
T |
A |
3: 57,597,817 (GRCm39) |
Y51F |
possibly damaging |
Het |
| Armh3 |
A |
T |
19: 45,928,915 (GRCm39) |
L393H |
probably damaging |
Het |
| Ccdc63 |
G |
A |
5: 122,249,027 (GRCm39) |
S434L |
possibly damaging |
Het |
| Cdan1 |
T |
A |
2: 120,556,134 (GRCm39) |
I711F |
possibly damaging |
Het |
| Cep170b |
C |
A |
12: 112,710,594 (GRCm39) |
N1474K |
probably damaging |
Het |
| Cyp2c40 |
A |
G |
19: 39,775,254 (GRCm39) |
S333P |
probably damaging |
Het |
| Dock3 |
T |
A |
9: 106,909,563 (GRCm39) |
|
probably benign |
Het |
| Dsp |
A |
G |
13: 38,360,471 (GRCm39) |
I359V |
possibly damaging |
Het |
| Fut8 |
T |
G |
12: 77,497,032 (GRCm39) |
L414* |
probably null |
Het |
| Gja1 |
A |
G |
10: 56,264,544 (GRCm39) |
Y301C |
probably damaging |
Het |
| Glipr1l1 |
T |
C |
10: 111,908,184 (GRCm39) |
S161P |
probably damaging |
Het |
| Gpat4 |
A |
T |
8: 23,665,354 (GRCm39) |
|
probably null |
Het |
| Grhl1 |
T |
A |
12: 24,658,577 (GRCm39) |
|
probably null |
Het |
| Hectd3 |
T |
C |
4: 116,853,569 (GRCm39) |
V181A |
possibly damaging |
Het |
| Htr2a |
T |
A |
14: 74,943,194 (GRCm39) |
I258N |
probably damaging |
Het |
| Hyou1 |
T |
A |
9: 44,292,414 (GRCm39) |
D83E |
possibly damaging |
Het |
| Myh10 |
T |
A |
11: 68,676,715 (GRCm39) |
L862Q |
probably benign |
Het |
| Nkx2-2 |
T |
C |
2: 147,027,833 (GRCm39) |
S36G |
probably benign |
Het |
| Nsun2 |
T |
A |
13: 69,771,368 (GRCm39) |
V326E |
probably benign |
Het |
| Nuak2 |
T |
C |
1: 132,259,308 (GRCm39) |
V362A |
probably benign |
Het |
| Nyap2 |
G |
A |
1: 81,169,642 (GRCm39) |
C133Y |
probably damaging |
Het |
| Oas2 |
T |
C |
5: 120,879,288 (GRCm39) |
T351A |
probably benign |
Het |
| Or11m3 |
C |
T |
15: 98,396,076 (GRCm39) |
T241I |
probably damaging |
Het |
| Or5m13 |
T |
C |
2: 85,748,908 (GRCm39) |
I213T |
probably benign |
Het |
| Pde4d |
A |
T |
13: 110,074,606 (GRCm39) |
I404F |
probably damaging |
Het |
| Pga5 |
A |
G |
19: 10,652,456 (GRCm39) |
S95P |
probably damaging |
Het |
| Pitpnm2 |
A |
T |
5: 124,261,257 (GRCm39) |
D947E |
probably damaging |
Het |
| Pla2g10 |
C |
T |
16: 13,545,950 (GRCm39) |
R28H |
probably damaging |
Het |
| Prlr |
A |
G |
15: 10,317,676 (GRCm39) |
D84G |
probably damaging |
Het |
| Rbm15b |
C |
T |
9: 106,762,908 (GRCm39) |
G420D |
probably damaging |
Het |
| Tbcd |
A |
G |
11: 121,496,153 (GRCm39) |
T1063A |
probably benign |
Het |
| Tmc2 |
C |
T |
2: 130,102,144 (GRCm39) |
Q770* |
probably null |
Het |
| Tpo |
T |
C |
12: 30,169,399 (GRCm39) |
|
probably benign |
Het |
| Vim |
A |
G |
2: 13,579,624 (GRCm39) |
N128D |
probably damaging |
Het |
| Vmn1r21 |
A |
T |
6: 57,821,222 (GRCm39) |
I74N |
probably damaging |
Het |
| Vmn2r52 |
A |
C |
7: 9,893,107 (GRCm39) |
I677M |
probably damaging |
Het |
|
| Other mutations in Dars1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02260:Dars1
|
APN |
1 |
128,299,898 (GRCm39) |
missense |
probably benign |
0.19 |
|
IGL03264:Dars1
|
APN |
1 |
128,341,427 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
2014-01-21 |
Incidental Mutation