Incidental Mutation 'IGL02948:Nars'
ID364829
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Nars
Ensembl Gene ENSMUSG00000024587
Gene Nameasparaginyl-tRNA synthetase
SynonymsASNRS
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.964) question?
Stock #IGL02948
Quality Score
Status
Chromosome18
Chromosomal Location64499665-64516557 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 64505195 bp
ZygosityHeterozygous
Amino Acid Change Cysteine to Arginine at position 266 (C266R)
Ref Sequence ENSEMBL: ENSMUSP00000025483 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025483]
Predicted Effect possibly damaging
Transcript: ENSMUST00000025483
AA Change: C266R

PolyPhen 2 Score 0.658 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000025483
Gene: ENSMUSG00000024587
AA Change: C266R

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
Validation Efficiency
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: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aass A T 6: 23,094,319 probably benign Het
Ano3 A T 2: 110,697,018 probably benign Het
Arpp21 T C 9: 112,176,200 Y193C probably damaging Het
Atm G A 9: 53,453,440 probably benign Het
Ceacam13 C T 7: 18,011,063 probably benign Het
Cenpi T A X: 134,349,268 C599S possibly damaging Het
Clec7a A C 6: 129,465,478 D195E possibly damaging Het
Cnksr1 T C 4: 134,235,106 probably null Het
Cntn1 A G 15: 92,246,010 T285A probably benign Het
Dusp4 G T 8: 34,818,572 G329V probably damaging Het
Emb C A 13: 117,273,066 probably benign Het
Esyt1 A T 10: 128,519,171 S496T probably damaging Het
Evpl T C 11: 116,221,822 T1681A probably damaging Het
Fam131b A C 6: 42,320,992 probably benign Het
Fam162b T C 10: 51,587,296 M92V probably damaging Het
Fbxw2 T C 2: 34,805,711 *455W probably null Het
Gm12886 A G 4: 121,423,037 L14P unknown Het
Gpc4 A T X: 52,074,301 V235E probably damaging Het
Gss A G 2: 155,577,621 L170P probably damaging Het
Hbs1l C T 10: 21,341,711 probably benign Het
Hhatl T C 9: 121,789,791 M92V probably benign Het
Hhla1 A T 15: 65,942,693 L194H probably damaging Het
Hivep2 C A 10: 14,129,013 R452S probably benign Het
Homer2 C A 7: 81,649,645 W24L probably damaging Het
Lhcgr A T 17: 88,742,622 L492H probably damaging Het
Lrba C A 3: 86,310,384 probably null Het
Lrp2 G T 2: 69,487,837 P2090Q probably damaging Het
Lyl1 C T 8: 84,702,671 P3L possibly damaging Het
Madd T A 2: 91,142,827 M1497L probably benign Het
Naprt C T 15: 75,892,357 R336Q probably damaging Het
Olfr1420 T A 19: 11,896,781 Y253* probably null Het
Olfr175-ps1 T A 16: 58,824,088 Q207L probably benign Het
Pard3 A T 8: 127,306,494 T190S probably benign Het
Pstpip2 A G 18: 77,854,807 N86S probably benign Het
Ptgfrn T C 3: 101,072,819 T402A probably benign Het
Rnf130 T C 11: 50,052,771 probably benign Het
Ropn1l T C 15: 31,451,179 D53G possibly damaging Het
Rps6ka2 G A 17: 7,254,450 probably null Het
Rtn2 T C 7: 19,293,111 S17P probably damaging Het
Shank2 T C 7: 144,409,636 V327A probably benign Het
Slc22a16 T G 10: 40,573,962 Y131* probably null Het
Slc28a2 T A 2: 122,457,977 M583K possibly damaging Het
Slco1a6 G T 6: 142,133,235 probably null Het
Slfn8 T A 11: 83,003,252 I854F probably damaging Het
Strip1 T C 3: 107,613,266 R823G probably benign Het
Stxbp2 A T 8: 3,641,971 I538F probably benign Het
Tcl1b5 C T 12: 105,179,014 T79M probably benign Het
Tmem104 G T 11: 115,197,296 A36S probably damaging Het
Trim55 T A 3: 19,670,952 L211Q probably damaging Het
Trim80 T C 11: 115,441,593 W204R possibly damaging Het
Ttbk1 G A 17: 46,446,330 T1126I probably benign Het
Ubqln2 C T X: 153,499,696 Q415* probably null Het
Unc13a C T 8: 71,650,549 R931H possibly damaging Het
Utp4 T A 8: 106,894,641 S17T probably benign Het
Other mutations in Nars
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01012:Nars APN 18 64504968 missense probably damaging 1.00
IGL01962:Nars APN 18 64510483 missense probably benign 0.00
IGL01968:Nars APN 18 64507858 missense probably damaging 1.00
IGL02288:Nars APN 18 64510535 splice site probably benign
IGL02366:Nars APN 18 64503528 missense possibly damaging 0.70
FR4976:Nars UTSW 18 64510445 critical splice donor site probably benign
R0591:Nars UTSW 18 64500567 missense probably damaging 1.00
R1654:Nars UTSW 18 64512049 missense probably damaging 1.00
R1691:Nars UTSW 18 64516414 critical splice donor site probably null
R1954:Nars UTSW 18 64500564 missense probably damaging 1.00
R2006:Nars UTSW 18 64505028 missense probably damaging 1.00
R2516:Nars UTSW 18 64505016 missense probably damaging 1.00
R3433:Nars UTSW 18 64509303 missense probably damaging 1.00
R4378:Nars UTSW 18 64501353 missense probably damaging 1.00
R4667:Nars UTSW 18 64505231 missense possibly damaging 0.93
R4737:Nars UTSW 18 64516427 missense probably benign
R4877:Nars UTSW 18 64500572 nonsense probably null
R5950:Nars UTSW 18 64510485 missense possibly damaging 0.91
R6434:Nars UTSW 18 64507801 missense probably benign 0.01
R6920:Nars UTSW 18 64501400 missense probably damaging 0.99
R7082:Nars UTSW 18 64504354 missense possibly damaging 0.68
R7132:Nars UTSW 18 64507770 critical splice donor site probably null
R7504:Nars UTSW 18 64512022 missense probably benign 0.22
R8120:Nars UTSW 18 64504351 missense probably benign 0.19
R8343:Nars UTSW 18 64504387 missense probably benign 0.01
R8429:Nars UTSW 18 64501320 missense probably damaging 1.00
Posted On2015-12-18