Incidental Mutation 'R6956:Aars1'
ID 541462
Institutional Source Beutler Lab
Gene Symbol Aars1
Ensembl Gene ENSMUSG00000031960
Gene Name alanyl-tRNA synthetase 1
Synonyms Aars
MMRRC Submission 045067-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.966) question?
Stock # R6956 (G1)
Quality Score 225.009
Status Validated
Chromosome 8
Chromosomal Location 111759781-111784237 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 111781762 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Methionine at position 945 (V945M)
Ref Sequence ENSEMBL: ENSMUSP00000034441 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034441] [ENSMUST00000190778] [ENSMUST00000191030] [ENSMUST00000191469] [ENSMUST00000210390]
AlphaFold Q8BGQ7
Predicted Effect probably benign
Transcript: ENSMUST00000034441
AA Change: V945M

PolyPhen 2 Score 0.380 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000034441
Gene: ENSMUSG00000031960
AA Change: V945M

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: ENSMUST00000190778
SMART Domains Protein: ENSMUSP00000139789
Gene: ENSMUSG00000033633

DomainStartEndE-ValueType
low complexity region 59 80 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000191030
SMART Domains Protein: ENSMUSP00000139569
Gene: ENSMUSG00000033633

DomainStartEndE-ValueType
low complexity region 59 80 N/A INTRINSIC
SCP 100 248 5.76e-19 SMART
EGF 282 319 5.32e-1 SMART
EGF_like 321 350 4.83e1 SMART
CLECT 355 491 4.65e-20 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000191469
SMART Domains Protein: ENSMUSP00000139515
Gene: ENSMUSG00000033633

DomainStartEndE-ValueType
low complexity region 85 96 N/A INTRINSIC
SCP 130 278 5.76e-19 SMART
EGF 312 349 5.32e-1 SMART
EGF_like 351 380 4.83e1 SMART
CLECT 385 521 4.65e-20 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000210390
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.3%
  • 20x: 97.7%
Validation Efficiency 100% (43/43)
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: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Amotl2 A G 9: 102,601,967 (GRCm39) T371A probably damaging Het
Bmpr1a A G 14: 34,163,132 (GRCm39) I86T possibly damaging Het
C9 A T 15: 6,474,945 (GRCm39) M35L probably benign Het
Cc2d1a G T 8: 84,862,528 (GRCm39) P661T probably damaging Het
Ccdc202 T A 14: 96,119,869 (GRCm39) W209R probably damaging Het
Dcdc2a T A 13: 25,303,349 (GRCm39) S293R probably benign Het
Dchs2 T A 3: 83,261,233 (GRCm39) N2500K probably benign Het
Dicer1 A G 12: 104,697,282 (GRCm39) S92P probably damaging Het
Dnah7a T A 1: 53,616,446 (GRCm39) I1172F probably benign Het
Dnajc6 A G 4: 101,471,470 (GRCm39) S364G probably damaging Het
Dpp6 A T 5: 27,803,819 (GRCm39) N255I probably damaging Het
Eif2ak4 T C 2: 118,252,748 (GRCm39) I440T probably damaging Het
Fam184b T C 5: 45,688,099 (GRCm39) T937A probably damaging Het
Fam229b T A 10: 39,009,843 (GRCm39) probably null Het
Gbp11 A G 5: 105,476,241 (GRCm39) probably null Het
Gipc2 A G 3: 151,799,885 (GRCm39) F282L probably benign Het
Gpt2 G A 8: 86,244,681 (GRCm39) E325K probably benign Het
H2-T3 T A 17: 36,500,263 (GRCm39) Y144F probably damaging Het
Kel T G 6: 41,664,907 (GRCm39) D7A probably damaging Het
Lrrc7 A G 3: 157,994,668 (GRCm39) V166A probably benign Het
Mapt T C 11: 104,209,081 (GRCm39) probably null Het
Marchf3 A G 18: 56,909,053 (GRCm39) V244A probably benign Het
Mboat1 T C 13: 30,422,059 (GRCm39) V396A possibly damaging Het
Mphosph9 T C 5: 124,435,621 (GRCm39) D604G probably damaging Het
Muc16 T C 9: 18,556,322 (GRCm39) T3324A unknown Het
Nalf1 T A 8: 9,820,744 (GRCm39) Q92L probably benign Het
Nat10 T C 2: 103,564,757 (GRCm39) I495V probably benign Het
Or6c208 A T 10: 129,224,166 (GRCm39) K221N probably benign Het
Pfkfb2 T C 1: 130,635,337 (GRCm39) N75D probably damaging Het
Psmd3 T A 11: 98,586,377 (GRCm39) L515Q probably damaging Het
Rpgrip1l A C 8: 92,012,941 (GRCm39) probably null Het
Scube1 T C 15: 83,606,077 (GRCm39) Y65C probably damaging Het
Slc12a4 A G 8: 106,680,484 (GRCm39) F211L probably damaging Het
Socs7 T C 11: 97,267,849 (GRCm39) S327P probably benign Het
Spef2 A T 15: 9,685,021 (GRCm39) D591E probably damaging Het
Sult2a6 T A 7: 13,988,748 (GRCm39) D4V possibly damaging Het
Tdpoz8 T C 3: 92,981,279 (GRCm39) V25A possibly damaging Het
Tdrd9 A G 12: 112,002,788 (GRCm39) probably benign Het
Tgm4 G T 9: 122,893,768 (GRCm39) M155I possibly damaging Het
Togaram2 T C 17: 72,036,183 (GRCm39) V891A probably benign Het
Usp1 A G 4: 98,819,243 (GRCm39) E235G probably damaging Het
Usp2 T A 9: 44,004,053 (GRCm39) V533E probably damaging Het
Vcan T A 13: 89,837,550 (GRCm39) I2665F probably damaging Het
Vmn2r31 G A 7: 7,397,505 (GRCm39) S251L probably benign Het
Vmn2r84 C A 10: 130,225,136 (GRCm39) C458F 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
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'- AGTCTGTGGTAGCATCACACATG -3'
(R):5'- AGGTCCCATGACTCCAATGTC -3'

Sequencing Primer
(F):5'- CACACATGATACAAATGGATGTTGG -3'
(R):5'- GACTCCAATGTCTTCGTGGCG -3'
Posted On 2018-11-28