Incidental Mutation 'IGL03084:Aars'
ID418014
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Aars
Ensembl Gene ENSMUSG00000031960
Gene Namealanyl-tRNA synthetase
Synonyms
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.968) question?
Stock #IGL03084
Quality Score
Status
Chromosome8
Chromosomal Location111033144-111057664 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to T at 111041629 bp
ZygosityHeterozygous
Amino Acid Change Valine to Leucine at position 211 (V211L)
Ref Sequence ENSEMBL: ENSMUSP00000034441 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034441] [ENSMUST00000125268]
Predicted Effect probably damaging
Transcript: ENSMUST00000034441
AA Change: V211L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000034441
Gene: ENSMUSG00000031960
AA Change: V211L

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
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: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
BC024139 T C 15: 76,119,807 D753G probably benign Het
BC049730 T C 7: 24,714,180 I207T possibly damaging Het
Brpf3 A G 17: 28,835,777 M1098V probably damaging Het
Cachd1 T A 4: 101,003,088 D1285E probably damaging Het
Cacna1b T C 2: 24,609,932 T147A probably benign Het
Cdc14a A G 3: 116,348,452 probably null Het
Chd1 A G 17: 15,770,298 H1704R probably benign Het
Dmkn T G 7: 30,771,056 N367K possibly damaging Het
Fam151b C A 13: 92,468,026 D152Y probably damaging Het
Gabrg3 T C 7: 56,735,064 S250G possibly damaging Het
Gm28042 A G 2: 120,040,505 Q833R probably benign Het
Gm4788 T A 1: 139,781,142 L9F possibly damaging Het
Gnpat A C 8: 124,878,899 Y336S probably damaging Het
Ighv1-54 G A 12: 115,194,116 probably benign Het
Kif2c T C 4: 117,178,158 N31S possibly damaging Het
Larp1 T A 11: 58,057,095 L939Q probably damaging Het
Lrrc69 G A 4: 14,708,631 P238S probably damaging Het
Lztfl1 C T 9: 123,709,576 G152E probably damaging Het
Man2a2 T C 7: 80,352,943 T1097A possibly damaging Het
Mrvi1 A G 7: 110,885,829 probably benign Het
Myh4 A G 11: 67,251,951 probably null Het
Nab2 C T 10: 127,664,477 V249M probably damaging Het
Nid2 A T 14: 19,768,932 D498V probably benign Het
Nrap T C 19: 56,365,454 T404A probably damaging Het
Olfr1043 A T 2: 86,162,225 C241* probably null Het
Olfr25 T G 9: 38,330,217 I210S probably damaging Het
Olfr368 T C 2: 37,332,401 I218T probably damaging Het
Olfr640 A G 7: 104,021,631 V229A probably benign Het
Pard3 A G 8: 127,593,092 I1104V probably damaging Het
Pcna C T 2: 132,251,753 E109K probably benign Het
Pkd1l2 G A 8: 117,065,745 T436I probably benign Het
Ppfia3 A G 7: 45,340,227 V1187A probably benign Het
Ppp1r16b G A 2: 158,761,493 W346* probably null Het
Rpl4 A G 9: 64,178,317 probably benign Het
Scn8a A T 15: 101,017,172 I1206F probably damaging Het
Slc5a2 T C 7: 128,266,604 S61P probably benign Het
Smarcal1 T C 1: 72,598,935 probably null Het
Smyd4 A G 11: 75,390,607 H302R probably benign Het
Sntb1 A G 15: 55,792,091 I243T probably damaging Het
Stx8 C T 11: 68,020,956 Q167* probably null Het
Sycp2 C A 2: 178,391,791 probably benign Het
Ttn A T 2: 76,796,398 V13088D probably damaging Het
Ugt2b1 T A 5: 86,926,384 M39L probably benign Het
Utp6 A T 11: 79,962,216 probably null Het
Vmn1r189 A T 13: 22,101,838 Y276* probably null Het
Vmn2r11 T A 5: 109,059,343 D37V probably benign Het
Vmn2r16 T G 5: 109,330,426 F16V probably damaging Het
Vmn2r65 A T 7: 84,943,146 M538K probably damaging Het
Zfp143 T A 7: 110,069,611 probably benign Het
Other mutations in Aars
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00478:Aars APN 8 111047972 missense possibly damaging 0.86
IGL00731:Aars APN 8 111044869 splice site probably benign
IGL00826:Aars APN 8 111040300 missense probably damaging 1.00
IGL01521:Aars APN 8 111043787 missense possibly damaging 0.85
IGL01885:Aars APN 8 111047943 missense possibly damaging 0.89
IGL01920:Aars APN 8 111043246 missense probably damaging 1.00
IGL01934:Aars APN 8 111048018 missense probably damaging 0.98
IGL02013:Aars APN 8 111047066 missense probably damaging 0.99
IGL02489:Aars APN 8 111054215 unclassified probably benign
IGL02683:Aars APN 8 111052531 unclassified probably benign
H8786:Aars UTSW 8 111045555 missense probably benign
R0037:Aars UTSW 8 111043259 missense possibly damaging 0.77
R0049:Aars UTSW 8 111052451 missense possibly damaging 0.75
R0049:Aars UTSW 8 111052451 missense possibly damaging 0.75
R0577:Aars UTSW 8 111043278 missense probably benign 0.10
R1183:Aars UTSW 8 111041574 nonsense probably null
R1642:Aars UTSW 8 111043250 missense possibly damaging 0.77
R1829:Aars UTSW 8 111042706 missense probably damaging 1.00
R1857:Aars UTSW 8 111040157 missense probably damaging 0.99
R2190:Aars UTSW 8 111040153 missense probably damaging 1.00
R2303:Aars UTSW 8 111052502 missense possibly damaging 0.84
R3918:Aars UTSW 8 111040142 missense probably damaging 1.00
R4001:Aars UTSW 8 111041602 missense probably damaging 1.00
R4434:Aars UTSW 8 111054621 missense probably null 0.74
R4909:Aars UTSW 8 111055083 missense probably damaging 1.00
R4970:Aars UTSW 8 111043679 missense probably benign 0.00
R5639:Aars UTSW 8 111043234 missense probably benign 0.01
R5991:Aars UTSW 8 111050400 missense probably damaging 1.00
R6403:Aars UTSW 8 111042249 missense possibly damaging 0.87
R6521:Aars UTSW 8 111043336 missense probably benign 0.01
R6956:Aars UTSW 8 111055130 missense probably benign 0.38
R7378:Aars UTSW 8 111042342 missense probably damaging 1.00
R7625:Aars UTSW 8 111046955 missense probably damaging 0.99
R7745:Aars UTSW 8 111041657 missense probably damaging 1.00
R7792:Aars UTSW 8 111043264 missense possibly damaging 0.75
R7860:Aars UTSW 8 111049861 missense probably benign 0.16
R8109:Aars UTSW 8 111040652 missense probably benign
R8197:Aars UTSW 8 111053996 missense probably benign 0.44
R8322:Aars UTSW 8 111045528 missense possibly damaging 0.93
R8343:Aars UTSW 8 111040729 missense probably damaging 1.00
R8683:Aars UTSW 8 111042249 missense possibly damaging 0.87
R8783:Aars UTSW 8 111049883 missense probably benign 0.01
Posted On2016-08-02