Incidental Mutation 'R2303:Aars1'
ID 244497
Institutional Source Beutler Lab
Gene Symbol Aars1
Ensembl Gene ENSMUSG00000031960
Gene Name alanyl-tRNA synthetase 1
Synonyms Aars
MMRRC Submission 040302-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.966) question?
Stock # R2303 (G1)
Quality Score 131
Status Validated
Chromosome 8
Chromosomal Location 111759781-111784237 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 111779134 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Lysine at position 756 (T756K)
Ref Sequence ENSEMBL: ENSMUSP00000034441 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034441] [ENSMUST00000210390]
AlphaFold Q8BGQ7
Predicted Effect possibly damaging
Transcript: ENSMUST00000034441
AA Change: T756K

PolyPhen 2 Score 0.844 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000034441
Gene: ENSMUSG00000031960
AA Change: T756K

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 probably benign
Transcript: ENSMUST00000210390
Meta Mutation Damage Score 0.9607 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 94.9%
Validation Efficiency 100% (40/40)
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: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930583I09Rik T G 17: 65,141,561 (GRCm39) D14A unknown Het
Abca9 A T 11: 110,049,052 (GRCm39) M252K probably benign Het
Acan A G 7: 78,749,705 (GRCm39) E1492G probably benign Het
Arid1a C A 4: 133,414,562 (GRCm39) R1223L unknown Het
Ash1l T C 3: 88,933,733 (GRCm39) L2003S probably damaging Het
Cct8 A T 16: 87,287,220 (GRCm39) probably null Het
Dagla T C 19: 10,229,467 (GRCm39) T598A probably damaging Het
Ercc3 A G 18: 32,378,600 (GRCm39) I194V probably benign Het
Fbxo46 A G 7: 18,870,541 (GRCm39) N387D possibly damaging Het
Fn1 C T 1: 71,653,195 (GRCm39) probably null Het
Gkn3 C T 6: 87,360,507 (GRCm39) A163T probably damaging Het
Gnrhr C T 5: 86,345,608 (GRCm39) G26D probably benign Het
Hmcn1 A T 1: 150,579,977 (GRCm39) L1920Q probably damaging Het
Kank2 T A 9: 21,681,061 (GRCm39) I823F probably benign Het
Kcnh8 GAGACCAACGAGCAGCTGATGCTTCAGA GAGA 17: 53,032,934 (GRCm39) 74 probably benign Het
Kdm1b TCATTGTCC TCATTGTCCATTGTCC 13: 47,217,564 (GRCm39) probably null Het
Mfsd6 T A 1: 52,715,672 (GRCm39) N535I probably damaging Het
Mgat5 T C 1: 127,374,036 (GRCm39) Y479H probably benign Het
Ncoa7 G A 10: 30,530,431 (GRCm39) T701I probably damaging Het
Or6c2 T C 10: 129,362,918 (GRCm39) V274A probably benign Het
Pcdh18 T C 3: 49,709,723 (GRCm39) R531G probably damaging Het
Pcdhb6 A G 18: 37,469,284 (GRCm39) H51R probably damaging Het
Pdik1l G A 4: 134,011,559 (GRCm39) Q95* probably null Het
Ppp4r3b A T 11: 29,150,741 (GRCm39) H469L possibly damaging Het
Prnp A G 2: 131,779,046 (GRCm39) T233A probably benign Het
Rcan1 T C 16: 92,190,484 (GRCm39) T152A possibly damaging Het
Sema3g T C 14: 30,944,572 (GRCm39) F329L probably damaging Het
Setd1a G A 7: 127,398,327 (GRCm39) probably benign Het
Slc40a1 G A 1: 45,950,044 (GRCm39) probably benign Het
Slco5a1 C T 1: 12,949,486 (GRCm39) G635S probably damaging Het
Spg11 C T 2: 121,899,318 (GRCm39) C1589Y probably damaging Het
Stab1 T C 14: 30,868,027 (GRCm39) T1616A probably damaging Het
Trappc11 A G 8: 47,956,451 (GRCm39) Y842H probably damaging Het
Vwde T A 6: 13,215,806 (GRCm39) probably benign Het
Zcchc8 A G 5: 123,838,660 (GRCm39) L626P probably benign Het
Zfhx4 A G 3: 5,462,120 (GRCm39) H1240R probably 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
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
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
Predicted Primers PCR Primer
(F):5'- TCGCTTCCGAGTGCAGATG -3'
(R):5'- GACTCTGGCTTACACTCACACG -3'

Sequencing Primer
(F):5'- AGATGCATCTCAGCCAGGG -3'
(R):5'- ATGTGGGTCATTGGCCACAAC -3'
Posted On 2014-10-30