Incidental Mutation 'R2516:Nars1'
ID 253865
Institutional Source Beutler Lab
Gene Symbol Nars1
Ensembl Gene ENSMUSG00000024587
Gene Name asparaginyl-tRNA synthetase 1
Synonyms Nars, ASNRS
MMRRC Submission 040420-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.967) question?
Stock # R2516 (G1)
Quality Score 225
Status Not validated
Chromosome 18
Chromosomal Location 64632726-64649586 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 64638087 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Glutamic Acid at position 289 (V289E)
Ref Sequence ENSEMBL: ENSMUSP00000025483 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025483]
AlphaFold Q8BP47
Predicted Effect probably damaging
Transcript: ENSMUST00000025483
AA Change: V289E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000025483
Gene: ENSMUSG00000024587
AA Change: V289E

DomainStartEndE-ValueType
coiled coil region 80 112 N/A INTRINSIC
Pfam:tRNA_anti-codon 139 219 1.2e-12 PFAM
Pfam:tRNA-synt_2 236 554 1.8e-108 PFAM
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.1%
Validation Efficiency 98% (65/66)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Aminoacyl-tRNA synthetases are a class of enzymes that charge tRNAs with their cognate amino acids. Asparaginyl-tRNA synthetase is localized to the cytoplasm and belongs to the class II family of tRNA synthetases. The N-terminal domain represents the signature sequence for the eukaryotic asparaginyl-tRNA synthetases. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 66 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb11 A T 2: 69,159,673 (GRCm39) I6N possibly damaging Het
Aen T C 7: 78,555,616 (GRCm39) V188A probably damaging Het
Afg3l1 A G 8: 124,228,693 (GRCm39) E753G probably damaging Het
Alas1 G A 9: 106,115,859 (GRCm39) T385I probably damaging Het
Alms1 C A 6: 85,644,945 (GRCm39) probably benign Het
Ankrd65 A G 4: 155,875,868 (GRCm39) T30A possibly damaging Het
App T C 16: 84,775,117 (GRCm39) S582G probably damaging Het
Arfgef1 A T 1: 10,223,879 (GRCm39) V1473E possibly damaging Het
Arhgap21 G A 2: 20,859,809 (GRCm39) P1196S probably damaging Het
Arhgap24 A G 5: 103,039,776 (GRCm39) T238A probably benign Het
Atf7 T C 15: 102,437,439 (GRCm39) probably benign Het
Best1 G T 19: 9,970,675 (GRCm39) S55* probably null Het
Capn11 A G 17: 45,944,725 (GRCm39) V514A probably damaging Het
Cep104 T A 4: 154,073,603 (GRCm39) M52K probably damaging Het
Clca3a1 C T 3: 144,443,619 (GRCm39) probably null Het
Cyp3a25 T C 5: 145,939,837 (GRCm39) probably null Het
Dmxl2 G A 9: 54,307,378 (GRCm39) P2197S probably damaging Het
Drosha T C 15: 12,859,551 (GRCm39) probably null Het
Exosc9 A G 3: 36,617,311 (GRCm39) K355R probably benign Het
Fut1 A C 7: 45,268,622 (GRCm39) H192P probably benign Het
Gm572 T A 4: 148,748,841 (GRCm39) V166D possibly damaging Het
Gm9966 C T 7: 95,607,735 (GRCm39) P19S unknown Het
Gmds C T 13: 32,284,456 (GRCm39) V219I probably damaging Het
Gsn G A 2: 35,173,965 (GRCm39) E25K probably benign Het
Il4i1 T C 7: 44,489,315 (GRCm39) F368S probably damaging Het
Irak1bp1 T C 9: 82,712,373 (GRCm39) L98P probably damaging Het
Khdrbs3 T C 15: 68,896,544 (GRCm39) probably benign Het
Kndc1 T C 7: 139,501,738 (GRCm39) I925T probably damaging Het
Laptm4a T C 12: 8,988,151 (GRCm39) I296T probably benign Het
Lpl A T 8: 69,340,170 (GRCm39) H55L probably benign Het
Lrrk2 C A 15: 91,640,130 (GRCm39) N1558K probably benign Het
Mfsd2a A G 4: 122,844,280 (GRCm39) L289P probably damaging Het
Mmrn2 T A 14: 34,120,759 (GRCm39) M543K probably benign Het
Mnat1 T C 12: 73,228,550 (GRCm39) probably benign Het
Msto1 A T 3: 88,819,200 (GRCm39) probably null Het
Mtus1 A G 8: 41,535,776 (GRCm39) Y647H probably damaging Het
Oit3 T A 10: 59,264,167 (GRCm39) K322N probably damaging Het
Oit3 G A 10: 59,277,507 (GRCm39) probably benign Het
Or4k1 T C 14: 50,377,440 (GRCm39) I219V probably benign Het
Or5b113 T A 19: 13,342,557 (GRCm39) C188* probably null Het
Or5m12 A G 2: 85,734,900 (GRCm39) I166T probably benign Het
Or6c211 G A 10: 129,506,155 (GRCm39) R78W probably damaging Het
Pecr A T 1: 72,316,469 (GRCm39) C79S probably damaging Het
Plekhn1 T C 4: 156,307,116 (GRCm39) D478G probably damaging Het
Pls1 A T 9: 95,658,616 (GRCm39) M264K probably benign Het
Ptprj C A 2: 90,305,340 (GRCm39) probably benign Het
Pygm A G 19: 6,447,631 (GRCm39) D646G probably benign Het
Rif1 GCCACCA GCCA 2: 52,000,336 (GRCm39) probably benign Het
Scn8a T C 15: 100,867,043 (GRCm39) V283A probably benign Het
Shisa5 T C 9: 108,885,575 (GRCm39) probably null Het
Slc10a4 A G 5: 73,165,848 (GRCm39) I246V possibly damaging Het
Slc1a1 A T 19: 28,870,312 (GRCm39) I104F probably benign Het
Slc22a8 A G 19: 8,587,559 (GRCm39) Y511C probably benign Het
Slc6a5 A G 7: 49,606,210 (GRCm39) N706S probably benign Het
Sos2 T C 12: 69,697,433 (GRCm39) K96E probably damaging Het
Stom G A 2: 35,205,977 (GRCm39) R251* probably null Het
Sycp1 T C 3: 102,752,382 (GRCm39) E800G probably benign Het
Tab2 G A 10: 7,783,245 (GRCm39) P679L probably damaging Het
Tiam2 G A 17: 3,503,657 (GRCm39) V945I probably damaging Het
Trpm5 G T 7: 142,628,254 (GRCm39) P1007Q probably damaging Het
Uchl1 T G 5: 66,839,956 (GRCm39) I139S probably damaging Het
Vmn1r232 A G 17: 21,134,288 (GRCm39) I104T possibly damaging Het
Vmn2r97 G A 17: 19,167,814 (GRCm39) M689I probably benign Het
Zc3h18 A T 8: 123,129,904 (GRCm39) probably benign Het
Zfhx4 C T 3: 5,468,418 (GRCm39) P2859S probably benign Het
Zfp456 T C 13: 67,510,491 (GRCm39) K99R probably benign Het
Other mutations in Nars1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01012:Nars1 APN 18 64,638,039 (GRCm39) missense probably damaging 1.00
IGL01962:Nars1 APN 18 64,643,554 (GRCm39) missense probably benign 0.00
IGL01968:Nars1 APN 18 64,640,929 (GRCm39) missense probably damaging 1.00
IGL02288:Nars1 APN 18 64,643,606 (GRCm39) splice site probably benign
IGL02366:Nars1 APN 18 64,636,599 (GRCm39) missense possibly damaging 0.70
IGL02948:Nars1 APN 18 64,638,266 (GRCm39) missense possibly damaging 0.66
FR4976:Nars1 UTSW 18 64,643,516 (GRCm39) critical splice donor site probably benign
R0591:Nars1 UTSW 18 64,633,638 (GRCm39) missense probably damaging 1.00
R1654:Nars1 UTSW 18 64,645,120 (GRCm39) missense probably damaging 1.00
R1691:Nars1 UTSW 18 64,649,485 (GRCm39) critical splice donor site probably null
R1954:Nars1 UTSW 18 64,633,635 (GRCm39) missense probably damaging 1.00
R2006:Nars1 UTSW 18 64,638,099 (GRCm39) missense probably damaging 1.00
R3433:Nars1 UTSW 18 64,642,374 (GRCm39) missense probably damaging 1.00
R4378:Nars1 UTSW 18 64,634,424 (GRCm39) missense probably damaging 1.00
R4667:Nars1 UTSW 18 64,638,302 (GRCm39) missense possibly damaging 0.93
R4737:Nars1 UTSW 18 64,649,498 (GRCm39) missense probably benign
R4877:Nars1 UTSW 18 64,633,643 (GRCm39) nonsense probably null
R5950:Nars1 UTSW 18 64,643,556 (GRCm39) missense possibly damaging 0.91
R6434:Nars1 UTSW 18 64,640,872 (GRCm39) missense probably benign 0.01
R6920:Nars1 UTSW 18 64,634,471 (GRCm39) missense probably damaging 0.99
R7082:Nars1 UTSW 18 64,637,425 (GRCm39) missense possibly damaging 0.68
R7132:Nars1 UTSW 18 64,640,841 (GRCm39) critical splice donor site probably null
R7504:Nars1 UTSW 18 64,645,093 (GRCm39) missense probably benign 0.22
R8120:Nars1 UTSW 18 64,637,422 (GRCm39) missense probably benign 0.19
R8343:Nars1 UTSW 18 64,637,458 (GRCm39) missense probably benign 0.01
R8429:Nars1 UTSW 18 64,634,391 (GRCm39) missense probably damaging 1.00
R8929:Nars1 UTSW 18 64,644,895 (GRCm39) missense probably benign
R9321:Nars1 UTSW 18 64,637,950 (GRCm39) missense probably damaging 1.00
R9397:Nars1 UTSW 18 64,642,327 (GRCm39) missense probably benign 0.30
Predicted Primers PCR Primer
(F):5'- AGGAGCCGCTTTGGTAAGAC -3'
(R):5'- TGAAAGCGCGCTCCATGATC -3'

Sequencing Primer
(F):5'- GAGCCGCTTTGGTAAGACAATTAC -3'
(R):5'- CATGATCACCAGGTGTTTCCGG -3'
Posted On 2014-12-04