Incidental Mutation 'R8322:Aars1'
ID 642019
Institutional Source Beutler Lab
Gene Symbol Aars1
Ensembl Gene ENSMUSG00000031960
Gene Name alanyl-tRNA synthetase 1
Synonyms Aars
MMRRC Submission 067798-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.966) question?
Stock # R8322 (G1)
Quality Score 225.009
Status Validated
Chromosome 8
Chromosomal Location 111759781-111784237 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 111772160 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 450 (L450P)
Ref Sequence ENSEMBL: ENSMUSP00000034441 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034441]
AlphaFold Q8BGQ7
Predicted Effect possibly damaging
Transcript: ENSMUST00000034441
AA Change: L450P

PolyPhen 2 Score 0.925 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000034441
Gene: ENSMUSG00000031960
AA Change: L450P

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency 100% (64/64)
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: 64 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700030K09Rik A G 8: 73,199,219 (GRCm39) S209G probably benign Het
Acsbg1 G A 9: 54,523,268 (GRCm39) T453M probably benign Het
Aff3 A G 1: 38,220,742 (GRCm39) S1100P possibly damaging Het
B4galt5 G A 2: 167,190,849 (GRCm39) A35V probably benign Het
C1qtnf1 T C 11: 118,338,683 (GRCm39) S118P probably benign Het
Ceacam20 A T 7: 19,705,628 (GRCm39) E206D probably damaging Het
Celsr3 T C 9: 108,725,993 (GRCm39) L3066P probably damaging Het
Cers3 T G 7: 66,439,386 (GRCm39) L299R probably damaging Het
Cfhr2 G T 1: 139,738,696 (GRCm39) H288Q probably benign Het
Cnot1 A T 8: 96,496,472 (GRCm39) M278K probably benign Het
Cnot10 T C 9: 114,456,537 (GRCm39) E166G probably damaging Het
Ctsd T A 7: 141,939,197 (GRCm39) D76V probably damaging Het
Cyp1a1 T A 9: 57,610,003 (GRCm39) F472L probably damaging Het
Dusp19 T A 2: 80,454,635 (GRCm39) D118E probably damaging Het
Dusp29 A T 14: 21,752,950 (GRCm39) D65E probably damaging Het
Eif2ak3 C A 6: 70,855,903 (GRCm39) R236S probably damaging Het
Fam169a A G 13: 97,259,260 (GRCm39) T439A probably benign Het
Flg T C 3: 93,191,639 (GRCm39) Y11H unknown Het
Fn1 T A 1: 71,667,618 (GRCm39) I792L probably benign Het
Fzd7 T C 1: 59,522,242 (GRCm39) S42P probably benign Het
Gimap3 A G 6: 48,742,370 (GRCm39) S187P possibly damaging Het
Gli1 C A 10: 127,167,477 (GRCm39) R592L probably damaging Het
Glt8d2 A T 10: 82,498,037 (GRCm39) I124N probably damaging Het
Hbp1 C T 12: 31,983,387 (GRCm39) D356N probably damaging Het
Hif1a T C 12: 73,986,373 (GRCm39) S367P probably benign Het
Hspg2 C G 4: 137,246,290 (GRCm39) P1023A possibly damaging Het
Itpr1 C A 6: 108,365,190 (GRCm39) N880K probably benign Het
Kank1 T C 19: 25,355,842 (GRCm39) probably benign Het
Kat2a T C 11: 100,603,116 (GRCm39) T39A unknown Het
Kcnk2 T A 1: 189,072,046 (GRCm39) Q98L probably benign Het
Kcnn4 G A 7: 24,083,545 (GRCm39) G409S probably benign Het
Klrb1 T A 6: 128,690,576 (GRCm39) I49F probably damaging Het
Larp4 G A 15: 99,908,237 (GRCm39) V573I probably benign Het
Lrpprc A G 17: 85,047,496 (GRCm39) probably null Het
Mybl1 A G 1: 9,746,506 (GRCm39) S385P probably damaging Het
Nup62 T C 7: 44,478,440 (GRCm39) S152P possibly damaging Het
Obi1 A T 14: 104,717,091 (GRCm39) D427E probably damaging Het
Or11a4 A G 17: 37,536,241 (GRCm39) Y75C probably damaging Het
Pcdh12 G A 18: 38,414,630 (GRCm39) Q832* probably null Het
Pcid2 A G 8: 13,128,555 (GRCm39) I368T probably damaging Het
Pcnx4 T A 12: 72,603,437 (GRCm39) F492I probably damaging Het
Pi4ka A G 16: 17,175,437 (GRCm39) Y464H Het
Plekhg5 T G 4: 152,189,201 (GRCm39) S260R possibly damaging Het
Prkdc T A 16: 15,532,005 (GRCm39) probably benign Het
Prr14 A T 7: 127,072,999 (GRCm39) E115D probably benign Het
Rab3gap2 A T 1: 184,978,877 (GRCm39) N285Y probably benign Het
Rhot1 T A 11: 80,148,386 (GRCm39) C609S possibly damaging Het
Rnf123 T C 9: 107,945,706 (GRCm39) Q360R probably benign Het
Rrp12 T C 19: 41,868,658 (GRCm39) T562A probably benign Het
Rundc1 G A 11: 101,322,992 (GRCm39) G317D probably benign Het
Rusf1 C T 7: 127,889,786 (GRCm39) R1H probably damaging Het
Slc14a1 A T 18: 78,145,656 (GRCm39) I426N possibly damaging Het
Slc23a1 C T 18: 35,755,588 (GRCm39) G436E probably damaging Het
Slc45a3 A G 1: 131,905,523 (GRCm39) D182G probably damaging Het
Sos1 A T 17: 80,715,728 (GRCm39) F1010I probably damaging Het
Tap1 A G 17: 34,412,163 (GRCm39) E456G probably damaging Het
Tha1 A T 11: 117,759,493 (GRCm39) V332E probably damaging Het
Tmem18 T A 12: 30,638,517 (GRCm39) I93N probably damaging Het
Tnrc18 A G 5: 142,711,767 (GRCm39) F2664S probably damaging Het
Tpm3 T A 3: 89,981,011 (GRCm39) probably benign Het
Ttc3 A G 16: 94,255,351 (GRCm39) E1615G probably damaging Het
Ube3b A G 5: 114,540,747 (GRCm39) T485A probably benign Het
Vmn2r92 A G 17: 18,386,886 (GRCm39) Y75C probably damaging Het
Zfp169 T C 13: 48,644,575 (GRCm39) D184G unknown 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
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
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'- GCAACTGGATTCCCTTCCTTTAAG -3'
(R):5'- AGCTCCCCAGATAGAAAGGCAG -3'

Sequencing Primer
(F):5'- CTTATTGGTAGAGCCTCAAGATGCC -3'
(R):5'- CCCAGATAGAAAGGCAGACAGC -3'
Posted On 2020-07-28