Incidental Mutation 'IGL02013:Aars1'
ID 183429
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Aars1
Ensembl Gene ENSMUSG00000031960
Gene Name alanyl-tRNA synthetase 1
Synonyms Aars
Accession Numbers
Essential gene? Probably essential (E-score: 0.966) question?
Stock # IGL02013
Quality Score
Status
Chromosome 8
Chromosomal Location 111759781-111784237 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 111773698 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 543 (Y543C)
Ref Sequence ENSEMBL: ENSMUSP00000034441 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034441]
AlphaFold Q8BGQ7
Predicted Effect probably damaging
Transcript: ENSMUST00000034441
AA Change: Y543C

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000034441
Gene: ENSMUSG00000031960
AA Change: Y543C

DomainStartEndE-ValueType
Pfam:tRNA-synt_2c 9 597 9.2e-228 PFAM
tRNA_SAD 694 753 5.97e-18 SMART
Pfam:DHHA1 885 957 1.6e-12 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000124285
Predicted Effect noncoding transcript
Transcript: ENSMUST00000128320
Predicted Effect noncoding transcript
Transcript: ENSMUST00000142770
Predicted Effect noncoding transcript
Transcript: ENSMUST00000145059
Predicted Effect noncoding transcript
Transcript: ENSMUST00000154546
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The human alanyl-tRNA synthetase (AARS) belongs to a family of tRNA synthases, of the class II enzymes. Class II tRNA synthases evolved early in evolution and are highly conserved. This is reflected by the fact that 498 of the 968-residue polypeptide human AARS shares 41% identity witht the E.coli protein. tRNA synthases are the enzymes that interpret the RNA code and attach specific aminoacids to the tRNAs that contain the cognate trinucleotide anticodons. They consist of a catalytic domain which interacts with the amino acid acceptor-T psi C helix of the tRNA, and a second domain which interacts with the rest of the tRNA structure. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes for a spontaneous point mutation (A734E) exhibit a rough sticky coat, follicular dystrophy, patchy hair loss, progressive ataxia, and Purkinje cell degeneration. Homozygotes for a targeted point mutation (C723A) die by mid-gestation, while heterozygotes show mild Purkinje cell loss. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 22 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acp4 G T 7: 43,904,505 (GRCm39) T186N probably benign Het
Adgrg6 T A 10: 14,302,555 (GRCm39) M953L probably damaging Het
Cp C A 3: 20,042,213 (GRCm39) H994N probably damaging Het
Csmd2 G A 4: 128,215,116 (GRCm39) D513N possibly damaging Het
Gm28557 A G 13: 67,219,116 (GRCm39) F248L probably benign Het
Nup155 G T 15: 8,143,132 (GRCm39) M100I possibly damaging Het
Odad2 A G 18: 7,265,157 (GRCm39) probably benign Het
Or8b12b A G 9: 37,684,185 (GRCm39) I77V probably benign Het
Or8c11 G A 9: 38,289,373 (GRCm39) M59I probably benign Het
Pgm1 G A 4: 99,841,158 (GRCm39) probably benign Het
Reln A G 5: 22,155,877 (GRCm39) F2205S probably damaging Het
Scmh1 G A 4: 120,340,929 (GRCm39) R205Q possibly damaging Het
Sema3e G A 5: 14,280,207 (GRCm39) G362D probably damaging Het
Sftpb C T 6: 72,282,655 (GRCm39) T79I probably benign Het
Sgcd C A 11: 46,871,770 (GRCm39) probably benign Het
Shprh T A 10: 11,057,246 (GRCm39) probably benign Het
Spmap2 T C 10: 79,415,769 (GRCm39) probably null Het
Ssc5d C T 7: 4,946,835 (GRCm39) S1063F probably benign Het
Tdrd6 T C 17: 43,936,837 (GRCm39) T1404A probably benign Het
Vmn2r67 G A 7: 84,800,863 (GRCm39) P358S probably benign Het
Wnk2 A T 13: 49,235,510 (GRCm39) M635K possibly damaging Het
Zfp474 C A 18: 52,771,971 (GRCm39) A208D possibly damaging Het
Other mutations in Aars1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00478:Aars1 APN 8 111,774,604 (GRCm39) missense possibly damaging 0.86
IGL00731:Aars1 APN 8 111,771,501 (GRCm39) splice site probably benign
IGL00826:Aars1 APN 8 111,766,932 (GRCm39) missense probably damaging 1.00
IGL01521:Aars1 APN 8 111,770,419 (GRCm39) missense possibly damaging 0.85
IGL01885:Aars1 APN 8 111,774,575 (GRCm39) missense possibly damaging 0.89
IGL01920:Aars1 APN 8 111,769,878 (GRCm39) missense probably damaging 1.00
IGL01934:Aars1 APN 8 111,774,650 (GRCm39) missense probably damaging 0.98
IGL02489:Aars1 APN 8 111,780,847 (GRCm39) unclassified probably benign
IGL02683:Aars1 APN 8 111,779,163 (GRCm39) unclassified probably benign
IGL03084:Aars1 APN 8 111,768,261 (GRCm39) missense probably damaging 1.00
H8786:Aars1 UTSW 8 111,772,187 (GRCm39) missense probably benign
R0037:Aars1 UTSW 8 111,769,891 (GRCm39) missense possibly damaging 0.77
R0049:Aars1 UTSW 8 111,779,083 (GRCm39) missense possibly damaging 0.75
R0049:Aars1 UTSW 8 111,779,083 (GRCm39) missense possibly damaging 0.75
R0577:Aars1 UTSW 8 111,769,910 (GRCm39) missense probably benign 0.10
R1183:Aars1 UTSW 8 111,768,206 (GRCm39) nonsense probably null
R1642:Aars1 UTSW 8 111,769,882 (GRCm39) missense possibly damaging 0.77
R1829:Aars1 UTSW 8 111,769,338 (GRCm39) missense probably damaging 1.00
R1857:Aars1 UTSW 8 111,766,789 (GRCm39) missense probably damaging 0.99
R2190:Aars1 UTSW 8 111,766,785 (GRCm39) missense probably damaging 1.00
R2303:Aars1 UTSW 8 111,779,134 (GRCm39) missense possibly damaging 0.84
R3918:Aars1 UTSW 8 111,766,774 (GRCm39) missense probably damaging 1.00
R4001:Aars1 UTSW 8 111,768,234 (GRCm39) missense probably damaging 1.00
R4434:Aars1 UTSW 8 111,781,253 (GRCm39) missense probably null 0.74
R4909:Aars1 UTSW 8 111,781,715 (GRCm39) missense probably damaging 1.00
R4970:Aars1 UTSW 8 111,770,311 (GRCm39) missense probably benign 0.00
R5639:Aars1 UTSW 8 111,769,866 (GRCm39) missense probably benign 0.01
R5991:Aars1 UTSW 8 111,777,032 (GRCm39) missense probably damaging 1.00
R6403:Aars1 UTSW 8 111,768,881 (GRCm39) missense possibly damaging 0.87
R6521:Aars1 UTSW 8 111,769,968 (GRCm39) missense probably benign 0.01
R6956:Aars1 UTSW 8 111,781,762 (GRCm39) missense probably benign 0.38
R7378:Aars1 UTSW 8 111,768,974 (GRCm39) missense probably damaging 1.00
R7625:Aars1 UTSW 8 111,773,587 (GRCm39) missense probably damaging 0.99
R7745:Aars1 UTSW 8 111,768,289 (GRCm39) missense probably damaging 1.00
R7792:Aars1 UTSW 8 111,769,896 (GRCm39) missense possibly damaging 0.75
R7860:Aars1 UTSW 8 111,776,493 (GRCm39) missense probably benign 0.16
R8109:Aars1 UTSW 8 111,767,284 (GRCm39) missense probably benign
R8197:Aars1 UTSW 8 111,780,628 (GRCm39) missense probably benign 0.44
R8322:Aars1 UTSW 8 111,772,160 (GRCm39) missense possibly damaging 0.93
R8343:Aars1 UTSW 8 111,767,361 (GRCm39) missense probably damaging 1.00
R8683:Aars1 UTSW 8 111,768,881 (GRCm39) missense possibly damaging 0.87
R8783:Aars1 UTSW 8 111,776,515 (GRCm39) missense probably benign 0.01
R8977:Aars1 UTSW 8 111,766,849 (GRCm39) missense probably damaging 1.00
R9087:Aars1 UTSW 8 111,768,169 (GRCm39) missense probably damaging 1.00
R9401:Aars1 UTSW 8 111,780,785 (GRCm39) missense probably benign 0.24
R9561:Aars1 UTSW 8 111,763,615 (GRCm39) missense probably damaging 1.00
R9576:Aars1 UTSW 8 111,768,296 (GRCm39) nonsense probably null
Posted On 2014-05-07