Incidental Mutation 'IGL01934:Aars1'
ID 180568
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 # IGL01934
Quality Score
Status
Chromosome 8
Chromosomal Location 111759781-111784237 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 111774650 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Asparagine at position 593 (I593N)
Ref Sequence ENSEMBL: ENSMUSP00000034441 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034441]
AlphaFold Q8BGQ7
Predicted Effect probably damaging
Transcript: ENSMUST00000034441
AA Change: I593N

PolyPhen 2 Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000034441
Gene: ENSMUSG00000031960
AA Change: I593N

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: 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: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4931414P19Rik T C 14: 54,823,112 (GRCm39) K362E probably damaging Het
4932438H23Rik T A 16: 90,852,753 (GRCm39) T128S probably damaging Het
Abca6 A T 11: 110,079,481 (GRCm39) N1224K probably benign Het
Abcc5 A T 16: 20,241,191 (GRCm39) probably benign Het
Adam7 A G 14: 68,770,048 (GRCm39) L35P probably damaging Het
Ahnak T A 19: 8,980,021 (GRCm39) L435Q probably damaging Het
Ankef1 A G 2: 136,394,451 (GRCm39) E620G possibly damaging Het
Aoc1l3 A T 6: 48,965,695 (GRCm39) I568F probably damaging Het
Ap3d1 A T 10: 80,545,092 (GRCm39) L1082* probably null Het
Atp6v0a4 T A 6: 38,028,481 (GRCm39) I712F possibly damaging Het
Bco1 T A 8: 117,822,784 (GRCm39) F5L possibly damaging Het
Cacna2d4 A T 6: 119,285,729 (GRCm39) S794C probably damaging Het
Camk2d T C 3: 126,628,304 (GRCm39) probably null Het
Capn15 T C 17: 26,181,998 (GRCm39) T604A probably damaging Het
Cd180 A T 13: 102,839,366 (GRCm39) D83V probably damaging Het
Ces1a C A 8: 93,759,278 (GRCm39) R286L probably damaging Het
Col6a6 A G 9: 105,575,858 (GRCm39) probably null Het
Crnkl1 A G 2: 145,773,202 (GRCm39) V148A probably benign Het
Epas1 A T 17: 87,131,157 (GRCm39) K312N probably damaging Het
Fbxw2 T C 2: 34,712,618 (GRCm39) S148G probably damaging Het
Fig4 T C 10: 41,104,108 (GRCm39) T791A probably benign Het
Galnt9 A T 5: 110,750,502 (GRCm39) I340F possibly damaging Het
Gfap G A 11: 102,785,286 (GRCm39) A230V probably damaging Het
Gm10718 A T 9: 3,025,118 (GRCm39) Y194F probably benign Het
Gm454 T C 5: 138,205,424 (GRCm39) noncoding transcript Het
Il24 A T 1: 130,811,614 (GRCm39) L115Q probably damaging Het
Ipp C A 4: 116,367,852 (GRCm39) N28K probably damaging Het
Kalrn A T 16: 34,018,882 (GRCm39) probably null Het
Klf10 C T 15: 38,297,528 (GRCm39) V171M probably benign Het
Man1b1 T C 2: 25,235,523 (GRCm39) S350P probably benign Het
Mfsd4a T C 1: 131,974,049 (GRCm39) Y343C probably damaging Het
Mrpl58 C A 11: 115,301,555 (GRCm39) probably benign Het
Myo7b A G 18: 32,134,394 (GRCm39) probably null Het
Nbas T C 12: 13,339,880 (GRCm39) probably benign Het
Nisch A G 14: 30,898,696 (GRCm39) probably benign Het
Or1o2 A T 17: 37,542,439 (GRCm39) V274D probably damaging Het
Or52z14 T C 7: 103,253,182 (GRCm39) F107S probably damaging Het
Or5p69 A G 7: 107,967,368 (GRCm39) I224V probably damaging Het
Parva T A 7: 112,187,760 (GRCm39) C352* probably null Het
Ptf1a T A 2: 19,451,431 (GRCm39) C254S possibly damaging Het
R3hdm1 G T 1: 128,164,272 (GRCm39) R1062L probably benign Het
Rnf44 A G 13: 54,829,763 (GRCm39) V407A probably damaging Het
Shank3 T C 15: 89,434,049 (GRCm39) L1598P probably damaging Het
Slit2 T C 5: 48,395,747 (GRCm39) S717P possibly damaging Het
Tdpoz4 A G 3: 93,704,779 (GRCm39) K359E probably damaging Het
Tmtc4 A T 14: 123,165,047 (GRCm39) L604* probably null Het
Tnfrsf21 A T 17: 43,376,078 (GRCm39) N488I probably benign Het
Tnfsf8 A G 4: 63,752,747 (GRCm39) probably benign Het
Tnpo3 A T 6: 29,575,019 (GRCm39) L382M probably benign Het
Tut1 T C 19: 8,931,355 (GRCm39) C18R probably damaging Het
Ugt8a A G 3: 125,708,424 (GRCm39) S229P probably benign Het
Usp22 T C 11: 61,046,114 (GRCm39) E476G probably damaging Het
Vill G T 9: 118,895,877 (GRCm39) A146S probably damaging Het
Vmn1r178 T C 7: 23,593,362 (GRCm39) Y137H probably damaging Het
Wdfy1 A T 1: 79,717,833 (GRCm39) W51R probably damaging Het
Zc3hav1 A T 6: 38,296,768 (GRCm39) probably null Het
Zfp236 A T 18: 82,651,245 (GRCm39) V889E probably damaging Het
Zscan20 T C 4: 128,486,277 (GRCm39) D141G 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
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 2014-05-07