Incidental Mutation 'R5991:Aars1'
ID 482017
Institutional Source Beutler Lab
Gene Symbol Aars1
Ensembl Gene ENSMUSG00000031960
Gene Name alanyl-tRNA synthetase 1
Synonyms Aars
MMRRC Submission 044171-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.966) question?
Stock # R5991 (G1)
Quality Score 203.009
Status Validated
Chromosome 8
Chromosomal Location 111759781-111784237 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 111777032 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Glutamine at position 683 (R683Q)
Ref Sequence ENSEMBL: ENSMUSP00000034441 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034441]
AlphaFold Q8BGQ7
Predicted Effect probably damaging
Transcript: ENSMUST00000034441
AA Change: R683Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000034441
Gene: ENSMUSG00000031960
AA Change: R683Q

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: ENSMUST00000128320
Predicted Effect noncoding transcript
Transcript: ENSMUST00000142770
Meta Mutation Damage Score 0.4466 question?
Coding Region Coverage
  • 1x: 99.8%
  • 3x: 99.4%
  • 10x: 97.0%
  • 20x: 90.5%
Validation Efficiency 96% (53/55)
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: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam8 T A 7: 139,570,200 (GRCm39) H69L probably damaging Het
Bbs2 G T 8: 94,824,914 (GRCm39) R23S probably benign Het
Bod1l A T 5: 41,974,206 (GRCm39) C2369* probably null Het
Capn11 G T 17: 45,970,278 (GRCm39) probably null Het
Carmil2 A G 8: 106,418,023 (GRCm39) Q679R probably null Het
Cep120 T C 18: 53,854,870 (GRCm39) I422V probably benign Het
Cnot7 A C 8: 40,948,696 (GRCm39) probably null Het
Col1a1 T C 11: 94,828,745 (GRCm39) V29A unknown Het
Dnttip1 A T 2: 164,596,100 (GRCm39) Q115L possibly damaging Het
Dyrk4 A G 6: 126,857,188 (GRCm39) V497A probably benign Het
Ep300 A G 15: 81,532,667 (GRCm39) D1635G unknown Het
Ercc5 T A 1: 44,219,990 (GRCm39) C1087* probably null Het
Fap A T 2: 62,348,865 (GRCm39) M517K probably damaging Het
Focad C A 4: 88,319,256 (GRCm39) D1574E possibly damaging Het
Fsip2 C T 2: 82,820,812 (GRCm39) P5515L probably benign Het
Gpr158 T C 2: 21,373,319 (GRCm39) Y85H probably damaging Het
Hc A G 2: 34,896,117 (GRCm39) V1222A possibly damaging Het
Hipk3 C T 2: 104,268,328 (GRCm39) M546I probably damaging Het
Jup T C 11: 100,270,395 (GRCm39) N371D possibly damaging Het
Ltbp4 A G 7: 27,008,741 (GRCm39) Y1262H probably damaging Het
Lyar A G 5: 38,385,209 (GRCm39) E83G probably damaging Het
Lyg2 C T 1: 37,954,800 (GRCm39) probably null Het
Mtmr11 T A 3: 96,075,905 (GRCm39) probably null Het
Myct1 A T 10: 5,554,426 (GRCm39) R98* probably null Het
Nol11 T C 11: 107,061,971 (GRCm39) T612A probably benign Het
Or2l5 T C 16: 19,333,507 (GRCm39) N293S probably damaging Het
Or4b1d T A 2: 89,968,578 (GRCm39) K302* probably null Het
Or4c113 C T 2: 88,885,126 (GRCm39) V215I probably benign Het
Or4f61 C T 2: 111,922,960 (GRCm39) V29M probably benign Het
Or5m9 A G 2: 85,877,254 (GRCm39) I143V probably benign Het
Parp14 G A 16: 35,661,827 (GRCm39) P1403S probably benign Het
Pcdhb3 T C 18: 37,434,561 (GRCm39) S176P probably benign Het
Pdcd1lg2 C T 19: 29,431,867 (GRCm39) R212W probably benign Het
Plin3 T C 17: 56,593,576 (GRCm39) Y46C probably damaging Het
Rfx7 G A 9: 72,526,820 (GRCm39) E1337K possibly damaging Het
Rnd2 C T 11: 101,359,825 (GRCm39) L57F probably damaging Het
Ryr1 G T 7: 28,804,035 (GRCm39) N584K probably damaging Het
Scmh1 T C 4: 120,379,817 (GRCm39) V544A probably benign Het
Sdk2 G A 11: 113,834,080 (GRCm39) T34M probably damaging Het
Serpinb9e T A 13: 33,443,790 (GRCm39) L270H probably damaging Het
Shoc2 T A 19: 53,991,480 (GRCm39) N248K probably damaging Het
Sirpd G T 3: 15,385,818 (GRCm39) A28E probably benign Het
Slc25a4 T C 8: 46,662,373 (GRCm39) Y95C probably damaging Het
Slc4a1ap A G 5: 31,691,413 (GRCm39) N403S possibly damaging Het
Spink10 T A 18: 62,790,956 (GRCm39) W7R probably null Het
Ssrp1 A G 2: 84,872,640 (GRCm39) K426R possibly damaging Het
Tbc1d24 G A 17: 24,428,043 (GRCm39) probably benign Het
Tead3 A T 17: 28,553,352 (GRCm39) probably null Het
Timd4 A G 11: 46,734,030 (GRCm39) *344W probably null Het
Tmem181a T A 17: 6,339,312 (GRCm39) W115R probably damaging Het
Tmem245 G A 4: 56,916,733 (GRCm39) T65I probably damaging Het
Vmn1r12 G C 6: 57,136,640 (GRCm39) V202L probably damaging Het
Vmn1r80 A G 7: 11,927,423 (GRCm39) T178A probably benign Het
Vps33b T A 7: 79,933,162 (GRCm39) probably null Het
Zmym6 T A 4: 127,002,266 (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
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
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
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
Predicted Primers PCR Primer
(F):5'- GAAATTCCTGTCCGGATTTCG -3'
(R):5'- GCAGGAGAGTGCTTCTATTGC -3'

Sequencing Primer
(F):5'- ACACAGGCTGTTATTTCAGAGG -3'
(R):5'- GAGAGTGCTTCTATTGCTGTCCC -3'
Posted On 2017-06-26