Incidental Mutation 'R2092:Dars'
ID 231807
Institutional Source Beutler Lab
Gene Symbol Dars
Ensembl Gene ENSMUSG00000026356
Gene Name aspartyl-tRNA synthetase
Synonyms 5730439G15Rik
MMRRC Submission 040097-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.959) question?
Stock # R2092 (G1)
Quality Score 225
Status Not validated
Chromosome 1
Chromosomal Location 128363707-128417368 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to T at 128374018 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Methionine to Lysine at position 293 (M293K)
Ref Sequence ENSEMBL: ENSMUSP00000027602 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027602]
AlphaFold Q922B2
Predicted Effect probably damaging
Transcript: ENSMUST00000027602
AA Change: M293K

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000027602
Gene: ENSMUSG00000026356
AA Change: M293K

Pfam:tRNA_anti-codon 60 145 4.6e-10 PFAM
Pfam:tRNA-synt_2 175 496 2.3e-77 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000186398
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.2%
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: 69 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A2m T A 6: 121,674,937 (GRCm38) C1321* probably null Het
Abca8b A G 11: 109,966,708 (GRCm38) F673L possibly damaging Het
Adam19 T G 11: 46,060,904 (GRCm38) probably null Het
AI987944 T C 7: 41,374,617 (GRCm38) T313A possibly damaging Het
Akap13 A T 7: 75,610,570 (GRCm38) I178F probably benign Het
Alb G GA 5: 90,463,983 (GRCm38) probably null Het
Bod1l A G 5: 41,831,517 (GRCm38) S416P probably damaging Het
Casr A T 16: 36,510,043 (GRCm38) Y310N possibly damaging Het
Cela3a T C 4: 137,404,426 (GRCm38) N152S probably benign Het
Chrdl2 T A 7: 100,020,977 (GRCm38) C102* probably null Het
Col4a4 G A 1: 82,498,946 (GRCm38) S554L unknown Het
Col6a4 T C 9: 106,060,331 (GRCm38) K1392R probably damaging Het
Dab1 T G 4: 104,678,777 (GRCm38) Y128D probably damaging Het
Dlec1 T C 9: 119,121,844 (GRCm38) F493L possibly damaging Het
Dmbt1 G T 7: 131,050,018 (GRCm38) W330L probably damaging Het
Dnah11 A T 12: 118,012,716 (GRCm38) M831K possibly damaging Het
Dock7 T C 4: 99,009,308 (GRCm38) N715S possibly damaging Het
Edc4 T A 8: 105,887,528 (GRCm38) L12Q probably damaging Het
Edem2 T C 2: 155,709,049 (GRCm38) M333V probably benign Het
Fpr-rs4 CAGGAA CA 17: 18,022,334 (GRCm38) probably null Het
Fto C A 8: 91,409,687 (GRCm38) Y194* probably null Het
Gnptab T G 10: 88,440,305 (GRCm38) Y1151* probably null Het
Grm1 A G 10: 10,689,225 (GRCm38) L1113P probably benign Het
Hnrnpa0 T C 13: 58,127,800 (GRCm38) K172E probably damaging Het
Ifitm1 A G 7: 140,969,514 (GRCm38) D70G probably damaging Het
Irx4 C A 13: 73,265,486 (GRCm38) T25K probably damaging Het
Kif22 C T 7: 127,033,630 (GRCm38) D195N probably damaging Het
Lrp2 C T 2: 69,536,021 (GRCm38) D245N probably benign Het
Lyz1 C T 10: 117,288,599 (GRCm38) R144Q probably benign Het
Macf1 T A 4: 123,383,178 (GRCm38) T6055S probably damaging Het
Mrgpra2b C T 7: 47,464,160 (GRCm38) V249I probably benign Het
Myh9 G A 15: 77,764,350 (GRCm38) Q80* probably null Het
Myo6 G T 9: 80,245,682 (GRCm38) R199L probably damaging Het
Naglu G A 11: 101,076,720 (GRCm38) V499I possibly damaging Het
Nfkbie T C 17: 45,558,539 (GRCm38) F140S probably benign Het
Olfr1208 A G 2: 88,897,267 (GRCm38) F110S probably damaging Het
Olfr1454 T A 19: 13,063,802 (GRCm38) Y130* probably null Het
Olfr510 CAAATA CA 7: 108,667,662 (GRCm38) probably null Het
Olfr598 G A 7: 103,329,109 (GRCm38) V208M probably damaging Het
Olfr67 A T 7: 103,788,072 (GRCm38) F68L possibly damaging Het
Olfr935 A T 9: 38,995,189 (GRCm38) L82Q probably damaging Het
Otop1 A T 5: 38,299,766 (GRCm38) I290F probably damaging Het
P2rx2 C T 5: 110,341,141 (GRCm38) D203N probably damaging Het
Pcdhb10 T A 18: 37,414,187 (GRCm38) I772N probably benign Het
Pnliprp1 A G 19: 58,741,184 (GRCm38) H423R probably benign Het
Ptk2 A T 15: 73,236,191 (GRCm38) Y56* probably null Het
Rapgef3 T C 15: 97,760,723 (GRCm38) D134G probably damaging Het
Scaf11 A C 15: 96,415,827 (GRCm38) S1358A probably damaging Het
Scn9a T C 2: 66,533,376 (GRCm38) M844V probably damaging Het
Sh3tc1 T C 5: 35,700,658 (GRCm38) E1121G probably damaging Het
Slc25a15 T C 8: 22,380,934 (GRCm38) T176A probably damaging Het
Slc29a4 T A 5: 142,718,855 (GRCm38) I384N probably damaging Het
Slc40a1 A T 1: 45,909,454 (GRCm38) D555E probably benign Het
Smc5 T C 19: 23,238,899 (GRCm38) I446V probably benign Het
St6gal2 T C 17: 55,510,266 (GRCm38) Y477H probably damaging Het
Syngr1 A T 15: 80,115,940 (GRCm38) Q84L possibly damaging Het
Tedc1 T C 12: 113,157,720 (GRCm38) L187P probably damaging Het
Tg A G 15: 66,849,607 (GRCm38) I322V probably null Het
Thap12 T C 7: 98,716,449 (GRCm38) V608A possibly damaging Het
Tmbim6 T C 15: 99,402,068 (GRCm38) S22P probably damaging Het
Ttc3 C T 16: 94,442,832 (GRCm38) P1232S probably benign Het
Upk3a A G 15: 85,018,085 (GRCm38) T38A probably damaging Het
Utrn A T 10: 12,678,698 (GRCm38) M1549K probably benign Het
Vmn1r176 C T 7: 23,835,153 (GRCm38) D192N probably damaging Het
Vmn1r198 A G 13: 22,354,715 (GRCm38) T35A possibly damaging Het
Xkr7 C T 2: 153,054,063 (GRCm38) S279L probably damaging Het
Zer1 G A 2: 30,108,274 (GRCm38) L342F probably damaging Het
Zfp641 G T 15: 98,293,712 (GRCm38) T31N probably benign Het
Zfp74 G A 7: 29,953,924 (GRCm38) probably benign Het
Other mutations in Dars
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01660:Dars APN 1 128,415,344 (GRCm38) splice site probably benign
IGL02260:Dars APN 1 128,372,161 (GRCm38) missense probably benign 0.19
IGL03264:Dars APN 1 128,413,690 (GRCm38) missense probably damaging 1.00
R0308:Dars UTSW 1 128,364,259 (GRCm38) missense probably damaging 1.00
R0609:Dars UTSW 1 128,405,381 (GRCm38) missense probably benign 0.00
R1148:Dars UTSW 1 128,366,909 (GRCm38) splice site probably benign
R1598:Dars UTSW 1 128,373,972 (GRCm38) missense probably benign 0.00
R2140:Dars UTSW 1 128,372,162 (GRCm38) missense probably benign 0.00
R2196:Dars UTSW 1 128,378,858 (GRCm38) missense probably damaging 1.00
R4735:Dars UTSW 1 128,376,234 (GRCm38) nonsense probably null
R5294:Dars UTSW 1 128,364,302 (GRCm38) missense probably benign 0.02
R5521:Dars UTSW 1 128,373,973 (GRCm38) missense probably benign 0.01
R6137:Dars UTSW 1 128,368,439 (GRCm38) missense probably benign 0.44
R6784:Dars UTSW 1 128,391,347 (GRCm38) missense probably damaging 1.00
R6899:Dars UTSW 1 128,413,746 (GRCm38) missense possibly damaging 0.83
R7284:Dars UTSW 1 128,372,267 (GRCm38) missense probably benign
R7437:Dars UTSW 1 128,372,204 (GRCm38) missense possibly damaging 0.46
R7562:Dars UTSW 1 128,367,026 (GRCm38) missense possibly damaging 0.86
R8169:Dars UTSW 1 128,376,265 (GRCm38) missense probably null
R8223:Dars UTSW 1 128,372,224 (GRCm38) missense probably benign 0.06
R9027:Dars UTSW 1 128,368,426 (GRCm38) missense possibly damaging 0.47
R9192:Dars UTSW 1 128,372,152 (GRCm38) missense probably benign 0.03
R9377:Dars UTSW 1 128,417,208 (GRCm38) missense probably benign
R9567:Dars UTSW 1 128,415,375 (GRCm38) missense
R9712:Dars UTSW 1 128,405,462 (GRCm38) missense probably benign 0.00
Z1176:Dars UTSW 1 128,372,207 (GRCm38) nonsense probably null
Predicted Primers PCR Primer

Sequencing Primer
Posted On 2014-09-18