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) question?
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*

DomainStartEndE-ValueType
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
GeneRefVarChr/LocMutationPredicted EffectZygosity
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
AlleleSourceChrCoordTypePredicted EffectPPH 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