Incidental Mutation 'R7745:Aars1'
ID 596800
Institutional Source Beutler Lab
Gene Symbol Aars1
Ensembl Gene ENSMUSG00000031960
Gene Name alanyl-tRNA synthetase 1
Synonyms Aars
MMRRC Submission 045801-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.966) question?
Stock # R7745 (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 A at 111768289 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Asparagine at position 220 (I220N)
Ref Sequence ENSEMBL: ENSMUSP00000034441 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034441] [ENSMUST00000125268]
AlphaFold Q8BGQ7
Predicted Effect probably damaging
Transcript: ENSMUST00000034441
AA Change: I220N

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000034441
Gene: ENSMUSG00000031960
AA Change: I220N

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 probably benign
Transcript: ENSMUST00000125268
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.3%
Validation Efficiency 96% (55/57)
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: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadac A C 3: 59,945,893 (GRCm39) S188R probably damaging Het
Abca15 A G 7: 119,931,440 (GRCm39) N16S probably damaging Het
Adck1 A T 12: 88,423,570 (GRCm39) M358L probably benign Het
Adck5 A T 15: 76,478,748 (GRCm39) Q345L probably benign Het
Adgrl2 A G 3: 148,542,094 (GRCm39) F876S probably damaging Het
Aebp2 T A 6: 140,569,584 (GRCm39) L55Q unknown Het
Ampd2 C A 3: 107,987,432 (GRCm39) V134L probably benign Het
Aox3 T C 1: 58,215,676 (GRCm39) V1036A possibly damaging Het
Aox4 A G 1: 58,279,866 (GRCm39) D494G probably benign Het
Cacna1a C A 8: 85,286,023 (GRCm39) H889Q probably benign Het
Cacna1c T C 6: 119,029,587 (GRCm39) D151G Het
Car8 A G 4: 8,237,939 (GRCm39) V92A possibly damaging Het
Ccdc8 G T 7: 16,729,614 (GRCm39) A368S unknown Het
Ccng2 C G 5: 93,421,202 (GRCm39) S237R probably benign Het
Cfap57 C T 4: 118,472,128 (GRCm39) V84I probably benign Het
Cntnap5a A G 1: 116,370,013 (GRCm39) I877V probably benign Het
Copa A T 1: 171,939,509 (GRCm39) D582V probably damaging Het
Cpne2 T G 8: 95,295,312 (GRCm39) S466A probably damaging Het
Crybg2 A G 4: 133,816,156 (GRCm39) K1311R possibly damaging Het
Csmd1 A G 8: 15,982,461 (GRCm39) probably null Het
Dnah2 A T 11: 69,342,144 (GRCm39) C2947* probably null Het
Exoc1 A T 5: 76,709,359 (GRCm39) K656* probably null Het
Exoc8 T C 8: 125,622,558 (GRCm39) N603S probably benign Het
Fam171a1 T A 2: 3,226,483 (GRCm39) C539S possibly damaging Het
Fastkd5 A T 2: 130,456,988 (GRCm39) I534K probably damaging Het
Fbn1 T C 2: 125,145,115 (GRCm39) D2708G probably benign Het
Fhad1 A G 4: 141,618,250 (GRCm39) L1392P probably benign Het
Fras1 A T 5: 96,874,754 (GRCm39) T2306S probably benign Het
Gdf7 G T 12: 8,351,854 (GRCm39) A27E unknown Het
Hnrnph1 A T 11: 50,270,324 (GRCm39) I43F probably damaging Het
Igkv8-27 T A 6: 70,148,999 (GRCm39) S52C probably benign Het
Jmjd1c T C 10: 67,052,824 (GRCm39) F24L probably damaging Het
Knl1 T G 2: 118,902,037 (GRCm39) L1246R probably benign Het
Limk2 C T 11: 3,305,896 (GRCm39) S191N probably damaging Het
Mdga2 C A 12: 66,736,125 (GRCm39) A368S possibly damaging Het
Mdga2 G A 12: 66,736,124 (GRCm39) A368V probably damaging Het
Med24 A T 11: 98,595,793 (GRCm39) L966Q probably damaging Het
Mgll T C 6: 88,702,770 (GRCm39) V23A possibly damaging Het
Nedd1 C T 10: 92,550,034 (GRCm39) D84N probably benign Het
Obscn A C 11: 58,951,681 (GRCm39) L4024R probably damaging Het
Or5k1b A T 16: 58,580,782 (GRCm39) Y252* probably null Het
Pcnx2 T C 8: 126,577,846 (GRCm39) I944V probably benign Het
Pecr T C 1: 72,306,157 (GRCm39) probably null Het
Phf3 A T 1: 30,843,305 (GRCm39) W1885R probably damaging Het
Pitpnm2 C G 5: 124,266,768 (GRCm39) A697P probably benign Het
Piwil2 T A 14: 70,631,638 (GRCm39) H602L probably benign Het
Pprc1 T C 19: 46,053,781 (GRCm39) S1104P unknown Het
Prkar1a T A 11: 109,544,673 (GRCm39) Y21* probably null Het
Prl2c3 A T 13: 12,813,186 (GRCm39) Y9* probably null Het
Rhbdl3 T A 11: 80,214,405 (GRCm39) L172Q possibly damaging Het
Rsph3a T G 17: 8,198,075 (GRCm39) L484W probably damaging Het
Sbno1 A T 5: 124,530,962 (GRCm39) S809T probably benign Het
Stmnd1 T A 13: 46,453,077 (GRCm39) V251E possibly damaging Het
Stt3a A T 9: 36,662,535 (GRCm39) C241* probably null Het
Tas2r114 A T 6: 131,666,401 (GRCm39) M209K probably damaging Het
Tchh G T 3: 93,352,084 (GRCm39) R508L unknown Het
Tgfbr3l T C 8: 4,300,622 (GRCm39) S267P possibly damaging Het
Ttn T A 2: 76,598,144 (GRCm39) I19590F probably damaging Het
Vmn1r171 A G 7: 23,332,035 (GRCm39) T87A probably benign 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
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'- ATGAAGCCAGAATCCTCCCTG -3'
(R):5'- ACGGTTCAGGAAGACATTCTG -3'

Sequencing Primer
(F):5'- CAGAATCCTCCCTGGCAAC -3'
(R):5'- TTATATAGGTCCACCCCATCCCAGG -3'
Posted On 2019-11-26