Incidental Mutation 'R1365:Dars2'
ID |
155988 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Dars2
|
Ensembl Gene |
ENSMUSG00000026709 |
Gene Name |
aspartyl-tRNA synthetase 2 (mitochondrial) |
Synonyms |
5830468K18Rik |
MMRRC Submission |
039430-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R1365 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
1 |
Chromosomal Location |
160868171-160898228 bp(-) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
G to A
at 160872564 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamine to Stop codon
at position 546
(Q546*)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000041851
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000035430]
|
AlphaFold |
Q8BIP0 |
Predicted Effect |
probably null
Transcript: ENSMUST00000035430
AA Change: Q546*
|
SMART Domains |
Protein: ENSMUSP00000041851 Gene: ENSMUSG00000026709 AA Change: Q546*
Domain | Start | End | E-Value | Type |
Pfam:tRNA_anti-codon
|
65 |
148 |
7e-10 |
PFAM |
Pfam:tRNA-synt_2
|
165 |
607 |
1.2e-90 |
PFAM |
Pfam:GAD
|
355 |
451 |
2e-13 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000160591
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000160759
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000161748
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000162654
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000195700
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.4%
- 10x: 96.5%
- 20x: 93.6%
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene belongs to the class-II aminoacyl-tRNA synthetase family. It is a mitochondrial enzyme that specifically aminoacylates aspartyl-tRNA. Mutations in this gene are associated with leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation (LBSL). [provided by RefSeq, Nov 2009]
|
Allele List at MGI |
All alleles(5) : Targeted(2) Gene trapped(3)
|
Other mutations in this stock |
Total: 30 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Arhgef28 |
G |
A |
13: 98,211,632 (GRCm39) |
T117M |
probably damaging |
Het |
Asb15 |
T |
C |
6: 24,567,269 (GRCm39) |
I530T |
possibly damaging |
Het |
Brca1 |
T |
C |
11: 101,392,822 (GRCm39) |
N1673S |
probably benign |
Het |
Cd48 |
A |
T |
1: 171,527,129 (GRCm39) |
Q185L |
probably damaging |
Het |
Cog2 |
A |
T |
8: 125,267,713 (GRCm39) |
K343I |
probably damaging |
Het |
Dst |
A |
G |
1: 34,227,275 (GRCm39) |
K1623E |
probably benign |
Het |
Epn1 |
G |
A |
7: 5,096,369 (GRCm39) |
R221Q |
probably benign |
Het |
Gtf2b |
T |
C |
3: 142,477,227 (GRCm39) |
I33T |
probably damaging |
Het |
Hsf4 |
G |
T |
8: 105,997,726 (GRCm39) |
R156L |
probably damaging |
Het |
Itch |
A |
G |
2: 155,054,951 (GRCm39) |
N752D |
probably benign |
Het |
Kif28 |
G |
A |
1: 179,567,552 (GRCm39) |
Q73* |
probably null |
Het |
Mamdc4 |
T |
C |
2: 25,456,036 (GRCm39) |
Y790C |
probably damaging |
Het |
Med1 |
T |
C |
11: 98,046,821 (GRCm39) |
|
probably benign |
Het |
Mfsd13a |
C |
T |
19: 46,354,943 (GRCm39) |
T40I |
probably benign |
Het |
Nf1 |
A |
G |
11: 79,438,711 (GRCm39) |
|
probably null |
Het |
Oxct2b |
G |
A |
4: 123,011,162 (GRCm39) |
V361I |
probably benign |
Het |
Pid1 |
T |
C |
1: 84,015,862 (GRCm39) |
M168V |
probably damaging |
Het |
Plk1 |
A |
G |
7: 121,767,852 (GRCm39) |
D419G |
probably damaging |
Het |
Rasl10b |
G |
A |
11: 83,308,665 (GRCm39) |
|
probably null |
Het |
Rps24 |
A |
G |
14: 24,541,830 (GRCm39) |
T6A |
probably damaging |
Het |
Sem1 |
T |
C |
6: 6,560,501 (GRCm39) |
D26G |
possibly damaging |
Het |
Sin3a |
C |
T |
9: 57,032,487 (GRCm39) |
R1141* |
probably null |
Het |
Slf1 |
C |
T |
13: 77,274,490 (GRCm39) |
A68T |
probably damaging |
Het |
Trmo |
A |
G |
4: 46,380,278 (GRCm39) |
S364P |
probably damaging |
Het |
Uchl3 |
A |
G |
14: 101,891,528 (GRCm39) |
E10G |
probably damaging |
Het |
Usp14 |
C |
T |
18: 10,000,490 (GRCm39) |
|
probably null |
Het |
Vmn1r203 |
T |
A |
13: 22,708,756 (GRCm39) |
M179K |
probably benign |
Het |
Vps13a |
A |
G |
19: 16,596,810 (GRCm39) |
Y3103H |
probably damaging |
Het |
Zfp804a |
T |
C |
2: 82,087,590 (GRCm39) |
L473P |
probably benign |
Het |
Zfp979 |
A |
T |
4: 147,697,681 (GRCm39) |
Y343N |
probably benign |
Het |
|
Other mutations in Dars2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
P0005:Dars2
|
UTSW |
1 |
160,881,509 (GRCm39) |
critical splice donor site |
probably null |
|
R0230:Dars2
|
UTSW |
1 |
160,890,357 (GRCm39) |
missense |
probably benign |
0.02 |
R0537:Dars2
|
UTSW |
1 |
160,888,318 (GRCm39) |
missense |
possibly damaging |
0.46 |
R0709:Dars2
|
UTSW |
1 |
160,874,498 (GRCm39) |
missense |
probably benign |
0.00 |
R1502:Dars2
|
UTSW |
1 |
160,874,375 (GRCm39) |
nonsense |
probably null |
|
R1625:Dars2
|
UTSW |
1 |
160,881,614 (GRCm39) |
missense |
possibly damaging |
0.88 |
R1934:Dars2
|
UTSW |
1 |
160,890,811 (GRCm39) |
splice site |
probably null |
|
R2239:Dars2
|
UTSW |
1 |
160,890,852 (GRCm39) |
missense |
possibly damaging |
0.83 |
R3721:Dars2
|
UTSW |
1 |
160,890,878 (GRCm39) |
missense |
probably benign |
0.03 |
R4308:Dars2
|
UTSW |
1 |
160,869,291 (GRCm39) |
missense |
probably damaging |
0.98 |
R4786:Dars2
|
UTSW |
1 |
160,888,330 (GRCm39) |
missense |
probably damaging |
1.00 |
R4859:Dars2
|
UTSW |
1 |
160,872,560 (GRCm39) |
missense |
probably damaging |
0.99 |
R4903:Dars2
|
UTSW |
1 |
160,878,941 (GRCm39) |
missense |
probably benign |
0.06 |
R5042:Dars2
|
UTSW |
1 |
160,872,664 (GRCm39) |
intron |
probably benign |
|
R5068:Dars2
|
UTSW |
1 |
160,869,483 (GRCm39) |
missense |
probably benign |
0.02 |
R6257:Dars2
|
UTSW |
1 |
160,869,398 (GRCm39) |
missense |
probably damaging |
1.00 |
R7286:Dars2
|
UTSW |
1 |
160,874,378 (GRCm39) |
missense |
possibly damaging |
0.85 |
R7346:Dars2
|
UTSW |
1 |
160,874,342 (GRCm39) |
splice site |
probably null |
|
R7444:Dars2
|
UTSW |
1 |
160,874,454 (GRCm39) |
missense |
possibly damaging |
0.94 |
R7593:Dars2
|
UTSW |
1 |
160,885,113 (GRCm39) |
missense |
probably damaging |
1.00 |
R7845:Dars2
|
UTSW |
1 |
160,869,318 (GRCm39) |
missense |
probably benign |
0.00 |
R8707:Dars2
|
UTSW |
1 |
160,884,081 (GRCm39) |
missense |
probably damaging |
1.00 |
R8916:Dars2
|
UTSW |
1 |
160,881,552 (GRCm39) |
missense |
probably benign |
0.20 |
R9237:Dars2
|
UTSW |
1 |
160,873,025 (GRCm39) |
missense |
probably damaging |
1.00 |
R9277:Dars2
|
UTSW |
1 |
160,877,527 (GRCm39) |
missense |
probably benign |
0.07 |
X0063:Dars2
|
UTSW |
1 |
160,884,063 (GRCm39) |
missense |
probably benign |
0.14 |
|
Predicted Primers |
PCR Primer
(F):5'- AGATAGTCCCTGGCACCCAGTAAG -3'
(R):5'- GCTCCTAACTCCAGTGACATTCACC -3'
Sequencing Primer
(F):5'- tcagaaatccgcctgcc -3'
(R):5'- TCTGGATTCCCTCAGGAGAAC -3'
|
Posted On |
2014-02-11 |