Incidental Mutation 'IGL01660:Dars'
ID103153
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Dars
Ensembl Gene ENSMUSG00000026356
Gene Nameaspartyl-tRNA synthetase
Synonyms5730439G15Rik
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.949) question?
Stock #IGL01660
Quality Score
Status
Chromosome1
Chromosomal Location128363707-128417368 bp(-) (GRCm38)
Type of Mutationsplice site
DNA Base Change (assembly) A to G at 128415344 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000066866 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027602] [ENSMUST00000064309]
Predicted Effect probably benign
Transcript: ENSMUST00000027602
SMART Domains Protein: ENSMUSP00000027602
Gene: ENSMUSG00000026356

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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
GeneRefVarChr/LocMutationPredicted EffectZygosity
9130011E15Rik A T 19: 45,940,476 L393H probably damaging Het
Acta2 A G 19: 34,251,791 I66T probably damaging Het
Actl11 T C 9: 107,929,048 V190A probably benign Het
Ankub1 T A 3: 57,690,396 Y51F possibly damaging Het
Ccdc63 G A 5: 122,110,964 S434L possibly damaging Het
Cdan1 T A 2: 120,725,653 I711F possibly damaging Het
Cep170b C A 12: 112,744,160 N1474K probably damaging Het
Cyp2c40 A G 19: 39,786,810 S333P probably damaging Het
Dock3 T A 9: 107,032,364 probably benign Het
Dsp A G 13: 38,176,495 I359V possibly damaging Het
Fut8 T G 12: 77,450,258 L414* probably null Het
Gja1 A G 10: 56,388,448 Y301C probably damaging Het
Glipr1l1 T C 10: 112,072,279 S161P probably damaging Het
Gpat4 A T 8: 23,175,338 probably null Het
Grhl1 T A 12: 24,608,578 probably null Het
Hectd3 T C 4: 116,996,372 V181A possibly damaging Het
Htr2a T A 14: 74,705,754 I258N probably damaging Het
Hyou1 T A 9: 44,381,117 D83E possibly damaging Het
Myh10 T A 11: 68,785,889 L862Q probably benign Het
Nkx2-2 T C 2: 147,185,913 S36G probably benign Het
Nsun2 T A 13: 69,623,249 V326E probably benign Het
Nuak2 T C 1: 132,331,570 V362A probably benign Het
Nyap2 G A 1: 81,191,927 C133Y probably damaging Het
Oas2 T C 5: 120,741,223 T351A probably benign Het
Olfr1025-ps1 T C 2: 85,918,564 I213T probably benign Het
Olfr279 C T 15: 98,498,195 T241I probably damaging Het
Pde4d A T 13: 109,938,072 I404F probably damaging Het
Pga5 A G 19: 10,675,092 S95P probably damaging Het
Pitpnm2 A T 5: 124,123,194 D947E probably damaging Het
Pla2g10 C T 16: 13,728,086 R28H probably damaging Het
Prlr A G 15: 10,317,590 D84G probably damaging Het
Rbm15b C T 9: 106,885,709 G420D probably damaging Het
Tbcd A G 11: 121,605,327 T1063A probably benign Het
Tmc2 C T 2: 130,260,224 Q770* probably null Het
Tpo T C 12: 30,119,400 probably benign Het
Vim A G 2: 13,574,813 N128D probably damaging Het
Vmn1r21 A T 6: 57,844,237 I74N probably damaging Het
Vmn2r52 A C 7: 10,159,180 I677M probably damaging Het
Other mutations in Dars
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02260:Dars APN 1 128372161 missense probably benign 0.19
IGL03264:Dars APN 1 128413690 missense probably damaging 1.00
R0308:Dars UTSW 1 128364259 missense probably damaging 1.00
R0609:Dars UTSW 1 128405381 missense probably benign 0.00
R1148:Dars UTSW 1 128366909 splice site probably benign
R1598:Dars UTSW 1 128373972 missense probably benign 0.00
R2092:Dars UTSW 1 128374018 missense probably damaging 1.00
R2140:Dars UTSW 1 128372162 missense probably benign 0.00
R2196:Dars UTSW 1 128378858 missense probably damaging 1.00
R4735:Dars UTSW 1 128376234 nonsense probably null
R5294:Dars UTSW 1 128364302 missense probably benign 0.02
R5521:Dars UTSW 1 128373973 missense probably benign 0.01
R6137:Dars UTSW 1 128368439 missense probably benign 0.44
R6784:Dars UTSW 1 128391347 missense probably damaging 1.00
R6899:Dars UTSW 1 128413746 missense possibly damaging 0.83
R7284:Dars UTSW 1 128372267 missense probably benign
R7437:Dars UTSW 1 128372204 missense possibly damaging 0.46
R7562:Dars UTSW 1 128367026 missense possibly damaging 0.86
R8169:Dars UTSW 1 128376265 missense probably null
R8223:Dars UTSW 1 128372224 missense probably benign 0.06
Z1176:Dars UTSW 1 128372207 nonsense probably null
Posted On2014-01-21