Incidental Mutation 'IGL01934:Aars'
ID180568
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 #IGL01934
Quality Score
Status
Chromosome8
Chromosomal Location111033144-111057664 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 111048018 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Asparagine at position 593 (I593N)
Ref Sequence ENSEMBL: ENSMUSP00000034441 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034441]
Predicted Effect probably damaging
Transcript: ENSMUST00000034441
AA Change: I593N

PolyPhen 2 Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000034441
Gene: ENSMUSG00000031960
AA Change: I593N

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: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4931414P19Rik T C 14: 54,585,655 K362E probably damaging Het
4932438H23Rik T A 16: 91,055,865 T128S probably damaging Het
Abca6 A T 11: 110,188,655 N1224K probably benign Het
Abcc5 A T 16: 20,422,441 probably benign Het
Adam7 A G 14: 68,532,599 L35P probably damaging Het
Ahnak T A 19: 9,002,657 L435Q probably damaging Het
Ankef1 A G 2: 136,552,531 E620G possibly damaging Het
Ap3d1 A T 10: 80,709,258 L1082* probably null Het
Atp6v0a4 T A 6: 38,051,546 I712F possibly damaging Het
Bco1 T A 8: 117,096,045 F5L possibly damaging Het
Cacna2d4 A T 6: 119,308,768 S794C probably damaging Het
Camk2d T C 3: 126,834,655 probably null Het
Capn15 T C 17: 25,963,024 T604A probably damaging Het
Cd180 A T 13: 102,702,858 D83V probably damaging Het
Ces1a C A 8: 93,032,650 R286L probably damaging Het
Col6a6 A G 9: 105,698,659 probably null Het
Crnkl1 A G 2: 145,931,282 V148A probably benign Het
Epas1 A T 17: 86,823,729 K312N probably damaging Het
Fbxw2 T C 2: 34,822,606 S148G probably damaging Het
Fig4 T C 10: 41,228,112 T791A probably benign Het
Galnt9 A T 5: 110,602,636 I340F possibly damaging Het
Gfap G A 11: 102,894,460 A230V probably damaging Het
Gm10718 A T 9: 3,025,118 Y194F probably benign Het
Gm454 T C 5: 138,207,162 noncoding transcript Het
Il24 A T 1: 130,883,877 L115Q probably damaging Het
Ipp C A 4: 116,510,655 N28K probably damaging Het
Kalrn A T 16: 34,198,512 probably null Het
Klf10 C T 15: 38,297,284 V171M probably benign Het
Man1b1 T C 2: 25,345,511 S350P probably benign Het
Mfsd4a T C 1: 132,046,311 Y343C probably damaging Het
Mrpl58 C A 11: 115,410,729 probably benign Het
Myo7b A G 18: 32,001,341 probably null Het
Nbas T C 12: 13,289,879 probably benign Het
Nisch A G 14: 31,176,739 probably benign Het
Olfr494 A G 7: 108,368,161 I224V probably damaging Het
Olfr619 T C 7: 103,603,975 F107S probably damaging Het
Olfr97 A T 17: 37,231,548 V274D probably damaging Het
Parva T A 7: 112,588,553 C352* probably null Het
Ptf1a T A 2: 19,446,620 C254S possibly damaging Het
R3hdm1 G T 1: 128,236,535 R1062L probably benign Het
Rnf44 A G 13: 54,681,950 V407A probably damaging Het
Shank3 T C 15: 89,549,846 L1598P probably damaging Het
Slit2 T C 5: 48,238,405 S717P possibly damaging Het
Svs1 A T 6: 48,988,761 I568F probably damaging Het
Tdpoz4 A G 3: 93,797,472 K359E probably damaging Het
Tmtc4 A T 14: 122,927,635 L604* probably null Het
Tnfrsf21 A T 17: 43,065,187 N488I probably benign Het
Tnfsf8 A G 4: 63,834,510 probably benign Het
Tnpo3 A T 6: 29,575,020 L382M probably benign Het
Tut1 T C 19: 8,953,991 C18R probably damaging Het
Ugt8a A G 3: 125,914,775 S229P probably benign Het
Usp22 T C 11: 61,155,288 E476G probably damaging Het
Vill G T 9: 119,066,809 A146S probably damaging Het
Vmn1r178 T C 7: 23,893,937 Y137H probably damaging Het
Wdfy1 A T 1: 79,740,116 W51R probably damaging Het
Zc3hav1 A T 6: 38,319,833 probably null Het
Zfp236 A T 18: 82,633,120 V889E probably damaging Het
Zscan20 T C 4: 128,592,484 D141G possibly damaging 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
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
IGL03084:Aars APN 8 111041629 missense probably damaging 1.00
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 On2014-05-07