Incidental Mutation 'R8197:Aars1'
ID 635495
Institutional Source Beutler Lab
Gene Symbol Aars1
Ensembl Gene ENSMUSG00000031960
Gene Name alanyl-tRNA synthetase 1
Synonyms Aars
MMRRC Submission 067620-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.966) question?
Stock # R8197 (G1)
Quality Score 225.009
Status Validated
Chromosome 8
Chromosomal Location 111759781-111784237 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 111780628 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 836 (D836E)
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: D836E

PolyPhen 2 Score 0.437 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000034441
Gene: ENSMUSG00000031960
AA Change: D836E

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.5%
  • 20x: 98.7%
Validation Efficiency 96% (46/48)
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
Abca6 A C 11: 110,102,641 (GRCm39) L861R probably damaging Het
Adamts18 G T 8: 114,481,227 (GRCm39) A560E probably damaging Het
Adra2b A T 2: 127,206,578 (GRCm39) Q365L possibly damaging Het
Anxa3 A G 5: 96,982,651 (GRCm39) T250A probably benign Het
B4galt5 T A 2: 167,144,023 (GRCm39) N309I probably benign Het
Bub1 G T 2: 127,643,177 (GRCm39) R1056S probably damaging Het
Ccdc185 G T 1: 182,576,324 (GRCm39) P122T possibly damaging Het
Cdk5rap3 A G 11: 96,806,975 (GRCm39) probably null Het
Cntnap4 T A 8: 113,296,857 (GRCm39) Y31N probably benign Het
Crygc T C 1: 65,112,365 (GRCm39) M70V probably benign Het
Dnah14 A G 1: 181,517,666 (GRCm39) E2000G possibly damaging Het
Dpp4 T C 2: 62,203,171 (GRCm39) N266S probably benign Het
Edrf1 T A 7: 133,249,088 (GRCm39) D304E probably benign Het
Fabp9 T G 3: 10,259,887 (GRCm39) K42T probably benign Het
Fhl4 T A 10: 84,934,101 (GRCm39) I227F probably damaging Het
Gm13941 T C 2: 110,926,921 (GRCm39) probably null Het
Gsdmd T C 15: 75,736,186 (GRCm39) I105T possibly damaging Het
Gys1 A G 7: 45,092,348 (GRCm39) D317G possibly damaging Het
Hrh4 A G 18: 13,154,986 (GRCm39) Y175C probably damaging Het
Igfals A G 17: 25,099,278 (GRCm39) N123S probably benign Het
Igkv5-37 A G 6: 69,940,841 (GRCm39) V2A possibly damaging Het
Iqsec3 A G 6: 121,389,971 (GRCm39) L500P unknown Het
Itgae G A 11: 73,011,210 (GRCm39) R660Q probably benign Het
Kcnip2 T C 19: 45,782,730 (GRCm39) I204V possibly damaging Het
Kndc1 A G 7: 139,493,447 (GRCm39) E471G probably damaging Het
Lrrtm3 T A 10: 63,924,295 (GRCm39) T291S possibly damaging Het
Mast1 T A 8: 85,639,450 (GRCm39) H1293L possibly damaging Het
Mrnip A G 11: 50,090,607 (GRCm39) E257G probably benign Het
Myo9b T C 8: 71,743,607 (GRCm39) Y223H probably damaging Het
Nab1 G A 1: 52,529,127 (GRCm39) R257* probably null Het
Ncapd3 C A 9: 26,997,329 (GRCm39) L1217I probably damaging Het
Or5h18 T A 16: 58,847,448 (GRCm39) D274V probably benign Het
Or8b54 G A 9: 38,686,577 (GRCm39) V9M noncoding transcript Het
Pde4d T A 13: 110,084,870 (GRCm39) I489N probably damaging Het
Pdyn C T 2: 129,530,277 (GRCm39) G131R probably benign Het
Qrich2 CACCTGCTTGCAACACACCAGGCTGAACTGGACCT CACCT 11: 116,347,861 (GRCm39) probably benign Het
Rps6ka1 T C 4: 133,592,673 (GRCm39) K276E possibly damaging Het
Rsf1 CGGCGGCGG CGGCGGCGGGGGCGGCGG 7: 97,229,121 (GRCm39) probably benign Het
Scube2 T A 7: 109,407,684 (GRCm39) N752I possibly damaging Het
Scyl2 T C 10: 89,498,228 (GRCm39) I194V probably benign Het
Sec31b T G 19: 44,512,955 (GRCm39) R511S probably benign Het
Serpinb6d T C 13: 33,851,588 (GRCm39) F115S probably damaging Het
Skint6 T G 4: 112,752,040 (GRCm39) probably null Het
Supt16 G A 14: 52,411,542 (GRCm39) P614S possibly damaging Het
Tmem114 T C 16: 8,227,516 (GRCm39) I182M probably damaging Het
Vmn1r125 G A 7: 21,006,851 (GRCm39) V250I probably damaging Het
Vmn2r111 T C 17: 22,778,032 (GRCm39) N549S possibly damaging Het
Zfp1005 A T 2: 150,109,577 (GRCm39) H89L possibly damaging Het
Zfp959 A T 17: 56,204,677 (GRCm39) D238V 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
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
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'- TGGGCTTGAATTTCACCCTACC -3'
(R):5'- ACACAGCCCAGATTTAGAGGG -3'

Sequencing Primer
(F):5'- TACCTCCTATTAGCCCAGACC -3'
(R):5'- ATCTCCAGGATGACCAGCG -3'
Posted On 2020-07-13