Incidental Mutation 'IGL01885:Aars1'
ID 179110
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Aars1
Ensembl Gene ENSMUSG00000031960
Gene Name alanyl-tRNA synthetase 1
Synonyms Aars
Accession Numbers
Essential gene? Probably essential (E-score: 0.966) question?
Stock # IGL01885
Quality Score
Status
Chromosome 8
Chromosomal Location 111759781-111784237 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 111774575 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 568 (V568A)
Ref Sequence ENSEMBL: ENSMUSP00000034441 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034441]
AlphaFold Q8BGQ7
Predicted Effect possibly damaging
Transcript: ENSMUST00000034441
AA Change: V568A

PolyPhen 2 Score 0.887 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000034441
Gene: ENSMUSG00000031960
AA Change: V568A

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 noncoding transcript
Transcript: ENSMUST00000128320
Predicted Effect noncoding transcript
Transcript: ENSMUST00000142770
Predicted Effect noncoding transcript
Transcript: ENSMUST00000154546
Coding Region Coverage
Validation Efficiency
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: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb11 T A 2: 69,117,971 (GRCm39) Q469L probably damaging Het
Ahsg G A 16: 22,717,731 (GRCm39) G264E probably damaging Het
Ankar T C 1: 72,697,862 (GRCm39) Y788C probably damaging Het
Birc6 T A 17: 74,911,511 (GRCm39) F1508I possibly damaging Het
Cd6 C A 19: 10,776,601 (GRCm39) Q141H probably benign Het
Cercam A C 2: 29,771,015 (GRCm39) T471P probably damaging Het
Cux1 T C 5: 136,337,301 (GRCm39) D729G possibly damaging Het
Dglucy T A 12: 100,816,540 (GRCm39) F394Y probably damaging Het
E130308A19Rik A G 4: 59,720,004 (GRCm39) N512S probably benign Het
Ephb4 T C 5: 137,356,059 (GRCm39) C223R probably damaging Het
Gcn1 T A 5: 115,714,174 (GRCm39) probably null Het
Gm10718 A T 9: 3,025,118 (GRCm39) Y194F probably benign Het
Gm21738 G A 14: 19,416,979 (GRCm38) S144L probably benign Het
Hirip3 T A 7: 126,463,381 (GRCm39) S446T probably benign Het
Hoxa5 A T 6: 52,179,647 (GRCm39) F243I probably damaging Het
Iars1 T C 13: 49,844,975 (GRCm39) V162A probably benign Het
Lama2 G A 10: 26,981,135 (GRCm39) R1840* probably null Het
Lbp T A 2: 158,166,493 (GRCm39) L349Q probably damaging Het
Lrp4 T C 2: 91,331,452 (GRCm39) I1604T probably benign Het
Mapk10 T C 5: 103,144,455 (GRCm39) K121E probably damaging Het
Nav3 T A 10: 109,578,521 (GRCm39) R1579* probably null Het
Obscn T C 11: 58,965,794 (GRCm39) D652G possibly damaging Het
Or10x1 A G 1: 174,196,967 (GRCm39) I161M probably damaging Het
Or5b117 G A 19: 13,431,449 (GRCm39) T144I probably benign Het
Or7g30 A G 9: 19,352,760 (GRCm39) I184V probably benign Het
Ostm1 C T 10: 42,574,147 (GRCm39) S280L possibly damaging Het
Peak1 C T 9: 56,167,388 (GRCm39) R180K probably damaging Het
Plcz1 T C 6: 139,947,837 (GRCm39) Y515C probably benign Het
Postn T C 3: 54,283,455 (GRCm39) probably benign Het
Ptchd4 C T 17: 42,814,493 (GRCm39) T798I probably damaging Het
Rnf41 A T 10: 128,271,344 (GRCm39) N85Y probably damaging Het
Shisa7 A T 7: 4,833,825 (GRCm39) H323Q probably damaging Het
Slco2a1 T A 9: 102,951,629 (GRCm39) M386K probably damaging Het
St18 G A 1: 6,914,596 (GRCm39) probably null Het
Stra6 T A 9: 58,048,431 (GRCm39) L175M probably damaging Het
Tmem67 A G 4: 12,057,389 (GRCm39) L600P probably damaging Het
Try5 G T 6: 41,288,672 (GRCm39) N182K possibly damaging Het
Vmn2r129 C T 4: 156,690,549 (GRCm39) noncoding transcript Het
Xpo7 G A 14: 70,903,475 (GRCm39) T1078I probably benign Het
Zan G A 5: 137,462,386 (GRCm39) T931I 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
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
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
Posted On 2014-05-07