Incidental Mutation 'IGL01521:Aars1'
ID 90507
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 # IGL01521
Quality Score
Status
Chromosome 8
Chromosomal Location 111759781-111784237 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 111770419 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 406 (I406F)
Ref Sequence ENSEMBL: ENSMUSP00000034441 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034441]
AlphaFold Q8BGQ7
Predicted Effect possibly damaging
Transcript: ENSMUST00000034441
AA Change: I406F

PolyPhen 2 Score 0.851 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000034441
Gene: ENSMUSG00000031960
AA Change: I406F

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000174930
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: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrb2 A G 4: 129,886,085 (GRCm39) E75G probably damaging Het
Angptl2 T C 2: 33,136,215 (GRCm39) Y467H probably damaging Het
Arap1 G T 7: 101,049,812 (GRCm39) probably null Het
Arfgap1 G A 2: 180,613,371 (GRCm39) C22Y probably damaging Het
Artn G A 4: 117,784,484 (GRCm39) P25S probably damaging Het
Bicra G T 7: 15,723,113 (GRCm39) Q135K probably benign Het
Clpx T C 9: 65,226,026 (GRCm39) V367A probably damaging Het
Clstn3 C T 6: 124,434,990 (GRCm39) W308* probably null Het
Cpb2 T A 14: 75,495,071 (GRCm39) V67D probably damaging Het
Cyp2c38 A G 19: 39,449,114 (GRCm39) Y80H probably damaging Het
Dbt A G 3: 116,327,032 (GRCm39) D127G probably benign Het
Elp1 T A 4: 56,771,059 (GRCm39) E961D probably benign Het
Fhod1 G A 8: 106,057,055 (GRCm39) A973V probably benign Het
Flacc1 T G 1: 58,709,553 (GRCm39) K201Q probably damaging Het
Focad A T 4: 88,328,927 (GRCm39) *1713C probably null Het
Gemin5 A T 11: 58,025,744 (GRCm39) probably benign Het
Gpr22 C T 12: 31,758,709 (GRCm39) probably benign Het
Kif23 T A 9: 61,827,182 (GRCm39) T890S probably damaging Het
Kmt5b T A 19: 3,836,618 (GRCm39) S52T possibly damaging Het
Lipo3 A T 19: 33,763,083 (GRCm39) D53E probably damaging Het
Lrrc14b G A 13: 74,511,691 (GRCm39) R130C probably damaging Het
Myt1 T A 2: 181,467,704 (GRCm39) I1046K probably damaging Het
Napsa A T 7: 44,236,061 (GRCm39) I367F probably damaging Het
Or5aq1b C T 2: 86,902,077 (GRCm39) V134I probably benign Het
Or8b56 A T 9: 38,739,185 (GRCm39) Y66F probably damaging Het
Rgcc T G 14: 79,538,185 (GRCm39) S69R probably damaging Het
Rin3 T A 12: 102,335,307 (GRCm39) I326N probably benign Het
Sipa1 C A 19: 5,711,006 (GRCm39) M1I probably null Het
Sirpb1a T A 3: 15,475,561 (GRCm39) M325L probably benign Het
Sult1a1 C A 7: 126,274,451 (GRCm39) V71F possibly damaging Het
Tgds G T 14: 118,350,506 (GRCm39) P349Q probably damaging Het
Tmem63c T A 12: 87,115,918 (GRCm39) H186Q probably damaging Het
Trappc9 A G 15: 72,924,016 (GRCm39) L242S probably damaging Het
Trip12 T A 1: 84,743,919 (GRCm39) probably benign Het
Zfp451 T C 1: 33,816,412 (GRCm39) probably null 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
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
IGL02013:Aars1 APN 8 111,773,698 (GRCm39) missense probably damaging 0.99
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 2013-12-09