Incidental Mutation 'R4001:Aars1'
ID 312477
Institutional Source Beutler Lab
Gene Symbol Aars1
Ensembl Gene ENSMUSG00000031960
Gene Name alanyl-tRNA synthetase 1
Synonyms Aars
MMRRC Submission 040844-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.966) question?
Stock # R4001 (G1)
Quality Score 225
Status Validated
Chromosome 8
Chromosomal Location 111759781-111784237 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 111768234 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Asparagine at position 202 (H202N)
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: H202N

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000034441
Gene: ENSMUSG00000031960
AA Change: H202N

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: ENSMUST00000124285
Predicted Effect probably benign
Transcript: ENSMUST00000125268
Predicted Effect noncoding transcript
Transcript: ENSMUST00000142770
Predicted Effect noncoding transcript
Transcript: ENSMUST00000145059
Predicted Effect noncoding transcript
Transcript: ENSMUST00000154546
Predicted Effect noncoding transcript
Transcript: ENSMUST00000174930
Meta Mutation Damage Score 0.1225 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 94.6%
Validation Efficiency 100% (28/28)
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: 26 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aipl1 T A 11: 71,922,428 (GRCm39) T94S probably damaging Het
Cdhr2 A T 13: 54,866,079 (GRCm39) E293V probably benign Het
Chd9 C T 8: 91,683,185 (GRCm39) R542C probably damaging Het
Clip4 A T 17: 72,106,071 (GRCm39) I85L probably damaging Het
Cntnap5c G A 17: 58,714,735 (GRCm39) probably null Het
Fbn1 A G 2: 125,319,415 (GRCm39) probably null Het
Hivep2 A G 10: 14,003,476 (GRCm39) R25G probably damaging Het
Klhdc7b A G 15: 89,272,187 (GRCm39) N1023S probably damaging Het
Lipi T A 16: 75,370,759 (GRCm39) R153* probably null Het
Lpcat4 A T 2: 112,070,296 (GRCm39) Q3L probably benign Het
Naa16 C A 14: 79,580,561 (GRCm39) probably null Het
Nalcn G T 14: 123,834,006 (GRCm39) N56K probably damaging Het
Obscn C G 11: 59,025,395 (GRCm39) A412P probably damaging Het
Or1e23 A G 11: 73,407,812 (GRCm39) L71P probably damaging Het
Pde8a T A 7: 80,967,104 (GRCm39) L415Q probably damaging Het
Ppp4r3c1 T C X: 88,974,116 (GRCm39) I694V probably benign Het
Rbms2 C T 10: 127,987,169 (GRCm39) S13N probably benign Het
Rgsl1 A G 1: 153,693,330 (GRCm39) L617P probably damaging Het
Sap18b T C 8: 96,552,068 (GRCm39) V26A probably benign Het
Senp2 T C 16: 21,847,318 (GRCm39) L282P possibly damaging Het
Srcap T C 7: 127,131,339 (GRCm39) M826T probably damaging Het
Tmc3 T C 7: 83,269,271 (GRCm39) S820P probably benign Het
Tmprss3 T C 17: 31,405,533 (GRCm39) N353S probably damaging Het
Tro G A X: 149,438,198 (GRCm39) T153I probably benign Het
Trp53bp1 A G 2: 121,035,566 (GRCm39) S1562P probably damaging Het
Uaca G A 9: 60,778,366 (GRCm39) V916I 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
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'- CATAAGGACTCATAGGGATGCGTTG -3'
(R):5'- TGAAGTGCAGGGCTGTTCTC -3'

Sequencing Primer
(F):5'- AAGCAAGTCTTGGAGGGATTTC -3'
(R):5'- TGTTCTCCAGCTCCAAAAGTAAAG -3'
Posted On 2015-04-29