Incidental Mutation 'R7860:Aars1'
ID 607435
Institutional Source Beutler Lab
Gene Symbol Aars1
Ensembl Gene ENSMUSG00000031960
Gene Name alanyl-tRNA synthetase 1
Synonyms Aars
MMRRC Submission 045913-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.966) question?
Stock # R7860 (G1)
Quality Score 225.009
Status Validated
Chromosome 8
Chromosomal Location 111759781-111784237 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 111776493 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Glutamic Acid at position 650 (K650E)
Ref Sequence ENSEMBL: ENSMUSP00000034441 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034441]
AlphaFold Q8BGQ7
Predicted Effect probably benign
Transcript: ENSMUST00000034441
AA Change: K650E

PolyPhen 2 Score 0.158 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000034441
Gene: ENSMUSG00000031960
AA Change: K650E

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: 100.0%
  • 10x: 99.7%
  • 20x: 99.2%
Validation Efficiency 99% (78/79)
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: 80 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930590J08Rik A G 6: 91,905,707 (GRCm39) T493A probably damaging Het
Abcb1b C T 5: 8,882,258 (GRCm39) S793F probably benign Het
Adamts18 T A 8: 114,501,908 (GRCm39) I318F probably damaging Het
Adcy8 A G 15: 64,571,322 (GRCm39) I1137T probably damaging Het
Ambra1 T A 2: 91,603,838 (GRCm39) F607L probably benign Het
Ankrd46 A T 15: 36,479,566 (GRCm39) V175D possibly damaging Het
Arhgap28 C A 17: 68,208,277 (GRCm39) E114* probably null Het
Arrdc1 C T 2: 24,816,158 (GRCm39) G282S probably damaging Het
Atp1a3 A T 7: 24,681,216 (GRCm39) L790Q probably damaging Het
Bend5 T A 4: 111,272,406 (GRCm39) V12D probably damaging Het
Bod1l C T 5: 41,976,608 (GRCm39) E1569K probably damaging Het
Cdc123 T A 2: 5,808,775 (GRCm39) I234L probably benign Het
Cep126 T G 9: 8,120,749 (GRCm39) E91D probably damaging Het
Cep89 T A 7: 35,113,570 (GRCm39) D199E possibly damaging Het
Ces1d T C 8: 93,897,765 (GRCm39) T442A probably benign Het
Chsy3 C T 18: 59,542,299 (GRCm39) A479V probably benign Het
Clcn4 C A 7: 7,296,060 (GRCm39) G261C probably damaging Het
Clhc1 A T 11: 29,507,651 (GRCm39) probably null Het
Cnot3 T A 7: 3,658,565 (GRCm39) probably null Het
Col9a1 C A 1: 24,276,261 (GRCm39) P723H probably damaging Het
Crybg3 A T 16: 59,375,605 (GRCm39) M169K probably benign Het
Cxxc4 A G 3: 133,963,814 (GRCm39) R353G probably benign Het
Dennd3 A T 15: 73,412,657 (GRCm39) I440F probably damaging Het
Dnai3 A G 3: 145,772,675 (GRCm39) L457P probably damaging Het
Elmo3 G T 8: 106,035,649 (GRCm39) S553I probably damaging Het
Elovl2 A G 13: 41,340,943 (GRCm39) Y198H probably benign Het
Epm2aip1 A G 9: 111,101,105 (GRCm39) Y26C probably damaging Het
Ext1 A C 15: 52,953,335 (GRCm39) C510G possibly damaging Het
Extl3 A T 14: 65,314,938 (GRCm39) D81E probably benign Het
Fbxl5 T A 5: 43,916,018 (GRCm39) T465S probably benign Het
Fbxo31 G A 8: 122,291,384 (GRCm39) probably null Het
Gabrr2 A T 4: 33,081,470 (GRCm39) K169* probably null Het
Haus4 A G 14: 54,779,602 (GRCm39) Y341H probably damaging Het
Itgae A T 11: 73,011,099 (GRCm39) probably null Het
Jmjd7 C T 2: 119,860,996 (GRCm39) H149Y possibly damaging Het
Kcnh2 C T 5: 24,529,561 (GRCm39) C725Y probably damaging Het
Mroh1 C T 15: 76,331,532 (GRCm39) P1252L probably benign Het
Ms4a14 A G 19: 11,280,308 (GRCm39) F750S probably benign Het
Naf1 T A 8: 67,313,165 (GRCm39) D49E unknown Het
Notch3 T C 17: 32,341,747 (GRCm39) T2002A possibly damaging Het
Or10q12 T A 19: 13,745,716 (GRCm39) D3E probably benign Het
Or14c44 A G 7: 86,057,119 (GRCm39) probably benign Het
Or1e33 A T 11: 73,738,333 (GRCm39) I206N probably benign Het
Or2d3c A T 7: 106,525,777 (GRCm39) D296E probably benign Het
Or2l13b A T 16: 19,349,167 (GRCm39) C168S probably damaging Het
Or7e175 A T 9: 20,048,871 (GRCm39) N153I probably benign Het
Or9s23 G A 1: 92,501,810 (GRCm39) D306N probably benign Het
Pck1 A G 2: 172,997,743 (GRCm39) T271A possibly damaging Het
Penk A G 4: 4,133,976 (GRCm39) W224R possibly damaging Het
Per2 C A 1: 91,372,481 (GRCm39) V198F probably damaging Het
Phf11d A G 14: 59,599,280 (GRCm39) M23T probably damaging Het
Pla2g4d A G 2: 120,097,211 (GRCm39) V796A probably benign Het
Pramel51 A T 12: 88,143,122 (GRCm39) N360K possibly damaging Het
Prdx6 A T 1: 161,069,428 (GRCm39) probably null Het
Prep A T 10: 44,967,108 (GRCm39) N47I probably damaging Het
Prodh2 A T 7: 30,212,064 (GRCm39) probably null Het
Prss38 G T 11: 59,265,996 (GRCm39) H96N probably damaging Het
Rab11a C A 9: 64,635,613 (GRCm39) E47* probably null Het
Rad18 C T 6: 112,626,798 (GRCm39) G369D probably benign Het
Rragc T C 4: 123,823,717 (GRCm39) V330A probably damaging Het
Serpina9 A T 12: 103,967,680 (GRCm39) H238Q probably benign Het
Serpinb3b T A 1: 107,085,467 (GRCm39) K91N probably damaging Het
Slc16a12 T G 19: 34,652,730 (GRCm39) S139R probably benign Het
Slc22a27 T A 19: 7,887,472 (GRCm39) probably null Het
Slc25a11 A G 11: 70,536,005 (GRCm39) V243A probably benign Het
Slc38a9 A T 13: 112,868,148 (GRCm39) I545F probably benign Het
Slc39a8 A T 3: 135,590,157 (GRCm39) H349L probably damaging Het
Slk C T 19: 47,630,510 (GRCm39) T1227I possibly damaging Het
Spdye4b A G 5: 143,180,609 (GRCm39) E25G possibly damaging Het
Sprr2b CTGAGCCTTGTCCTCCTCCAAAGTGCCCTGAGCCTTGTCCTCCCCCAGTATGCTGTGAGCCTTGTCCTCCTCCAAAGTGCCCTGAGCCTTGTCCTCCCCCAGTATGCTGTGAGCCTTGTCCTCC CTGAGCCTTGTCCTCCTCCAAAGTGCCCTGAGCCTTGTCCTCCCCCAGTATGCTGTGAGCCTTGTCCTCC 3: 92,224,826 (GRCm39) probably benign Het
St3gal1 A G 15: 66,983,114 (GRCm39) V214A probably benign Het
St7l T A 3: 104,833,893 (GRCm39) M550K probably benign Het
Tbk1 A C 10: 121,388,151 (GRCm39) F638C possibly damaging Het
Tex101 A T 7: 24,369,190 (GRCm39) C114S probably damaging Het
Ttll13 A G 7: 79,905,135 (GRCm39) M384V probably benign Het
Ugt2b37 A T 5: 87,402,189 (GRCm39) D147E probably damaging Het
Vmn1r10 A T 6: 57,090,686 (GRCm39) T93S probably benign Het
Wasl G A 6: 24,619,396 (GRCm39) P375S unknown Het
Zfp236 C A 18: 82,692,481 (GRCm39) E165* probably null Het
Zfp839 A T 12: 110,822,060 (GRCm39) R291S 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
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
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'- CAACAAAATGTTCTAGCACGTGC -3'
(R):5'- CATCTCTGTGAACGGGTCAG -3'

Sequencing Primer
(F):5'- GCTCCATAGCTTCCATCTCTG -3'
(R):5'- TCTGTGAACGGGTCAGGACATG -3'
Posted On 2019-12-20