Incidental Mutation 'R4434:Aars1'
ID 328751
Institutional Source Beutler Lab
Gene Symbol Aars1
Ensembl Gene ENSMUSG00000031960
Gene Name alanyl-tRNA synthetase 1
Synonyms Aars
MMRRC Submission 041148-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.966) question?
Stock # R4434 (G1)
Quality Score 225
Status Not validated
Chromosome 8
Chromosomal Location 111759781-111784237 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 111781253 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Leucine at position 907 (Q907L)
Ref Sequence ENSEMBL: ENSMUSP00000034441 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034441] [ENSMUST00000190778] [ENSMUST00000191030] [ENSMUST00000191469] [ENSMUST00000210390]
AlphaFold Q8BGQ7
Predicted Effect probably null
Transcript: ENSMUST00000034441
AA Change: Q907L

PolyPhen 2 Score 0.742 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000034441
Gene: ENSMUSG00000031960
AA Change: Q907L

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: ENSMUST00000128320
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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000214924
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.4%
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: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam6b A C 12: 113,454,281 (GRCm39) Q366P probably damaging Het
AI597479 C T 1: 43,139,959 (GRCm39) Q62* probably null Het
Akap9 T A 5: 4,082,708 (GRCm39) M1944K probably damaging Het
Akr1c19 T C 13: 4,292,615 (GRCm39) V212A probably benign Het
Ank3 C T 10: 69,822,900 (GRCm39) S523L probably damaging Het
Antxrl G A 14: 33,793,574 (GRCm39) probably benign Het
Arhgap21 A G 2: 20,972,146 (GRCm39) C26R probably benign Het
Cdc37l1 T C 19: 28,985,021 (GRCm39) F224L probably damaging Het
Csmd3 G A 15: 47,763,191 (GRCm39) T1215I possibly damaging Het
Dnah7c G A 1: 46,705,442 (GRCm39) R2485H probably damaging Het
Dnah9 T A 11: 65,998,901 (GRCm39) N1049I possibly damaging Het
Dnaja3 T G 16: 4,507,859 (GRCm39) Y120* probably null Het
Ehbp1l1 G T 19: 5,766,276 (GRCm39) R412S possibly damaging Het
Fam169a A G 13: 97,263,248 (GRCm39) D567G probably damaging Het
Gcnt4 T A 13: 97,082,850 (GRCm39) Y49N probably benign Het
Gm5849 T A 3: 90,685,182 (GRCm39) K1M probably null Het
Gngt1 A G 6: 3,994,282 (GRCm39) D20G probably benign Het
Gnptab A G 10: 88,248,484 (GRCm39) N104S probably damaging Het
Gpn3 A G 5: 122,520,115 (GRCm39) D223G probably benign Het
Hectd1 A T 12: 51,798,835 (GRCm39) I2095K probably damaging Het
Hephl1 C T 9: 14,988,092 (GRCm39) R672H probably damaging Het
Hpse2 A G 19: 43,282,708 (GRCm39) S182P probably benign Het
Itgb4 T A 11: 115,890,640 (GRCm39) S1109R probably benign Het
Itgbl1 A T 14: 124,209,611 (GRCm39) D330V probably damaging Het
Krt77 A T 15: 101,773,904 (GRCm39) V250E probably damaging Het
Mycbp2 T A 14: 103,371,225 (GRCm39) N4108Y probably damaging Het
Nampt T C 12: 32,888,362 (GRCm39) I171T probably damaging Het
Nckap5l A C 15: 99,320,744 (GRCm39) S1270A probably benign Het
Opa1 A G 16: 29,430,801 (GRCm39) I500M probably damaging Het
Or10j5 C T 1: 172,785,111 (GRCm39) H250Y probably damaging Het
Pax8 G A 2: 24,319,621 (GRCm39) P350L possibly damaging Het
Plxnb2 A G 15: 89,047,006 (GRCm39) C772R probably damaging Het
Prh1 A T 6: 132,548,841 (GRCm39) H116L unknown Het
Rgsl1 C T 1: 153,678,087 (GRCm39) A114T possibly damaging Het
Rln1 A T 19: 29,311,962 (GRCm39) F12Y possibly damaging Het
Robo4 CGG CG 9: 37,322,786 (GRCm39) probably null Het
Scube1 A T 15: 83,606,125 (GRCm39) I49N probably damaging Het
Shank3 C A 15: 89,387,562 (GRCm39) L244I probably damaging Het
Shc3 T C 13: 51,603,302 (GRCm39) T268A probably benign Het
Sp7 A G 15: 102,267,536 (GRCm39) L90P probably damaging Het
Tacc2 G A 7: 130,225,271 (GRCm39) S652N probably damaging Het
Tacstd2 A G 6: 67,512,128 (GRCm39) V188A possibly damaging Het
Tasor G A 14: 27,171,818 (GRCm39) probably null Het
Tex26 T C 5: 149,376,820 (GRCm39) S70P probably benign Het
Tmc4 C T 7: 3,675,006 (GRCm39) V222M probably benign Het
Tnc T C 4: 63,926,066 (GRCm39) T905A possibly damaging Het
Trim65 G A 11: 116,018,435 (GRCm39) Q253* probably null Het
Tuba3a A T 6: 125,258,506 (GRCm39) Y161* probably null Het
Zfand2b A G 1: 75,147,330 (GRCm39) S197G possibly damaging Het
Zfp109 T A 7: 23,928,771 (GRCm39) T213S probably benign Het
Zfp985 A C 4: 147,668,368 (GRCm39) D412A probably benign Het
Zswim3 T A 2: 164,662,563 (GRCm39) C348S probably benign 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
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
Predicted Primers PCR Primer
(F):5'- CTTGTAGAAAGCAGGGCTCC -3'
(R):5'- AGCAAAGCCAGGCATTAGC -3'

Sequencing Primer
(F):5'- CCTTGCCAGTGACCTAACCTGAG -3'
(R):5'- CATTAGCCAGGAGTGAAGTCTTTC -3'
Posted On 2015-07-21