Incidental Mutation 'R3820:Aarsd1'
ID 274867
Institutional Source Beutler Lab
Gene Symbol Aarsd1
Ensembl Gene ENSMUSG00000075528
Gene Name alanyl-tRNA synthetase domain containing 1
Synonyms 2310044P18Rik
MMRRC Submission 040882-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.573) question?
Stock # R3820 (G1)
Quality Score 225
Status Validated
Chromosome 11
Chromosomal Location 101297665-101308441 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 101301971 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 332 (I332F)
Ref Sequence ENSEMBL: ENSMUSP00000102880 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000070395] [ENSMUST00000107257] [ENSMUST00000107259]
AlphaFold Q3THG9
Predicted Effect probably damaging
Transcript: ENSMUST00000070395
AA Change: I201F

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000067912
Gene: ENSMUSG00000075528
AA Change: I201F

DomainStartEndE-ValueType
Pfam:tRNA-synt_2c 8 101 1.5e-8 PFAM
tRNA_SAD 196 239 1.43e-6 SMART
low complexity region 276 293 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000107257
AA Change: I314F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000102878
Gene: ENSMUSG00000097239
AA Change: I314F

DomainStartEndE-ValueType
Pfam:tRNA-synt_2c 91 214 1.4e-8 PFAM
tRNA_SAD 309 352 1.43e-6 SMART
low complexity region 389 406 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000107259
AA Change: I332F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000102880
Gene: ENSMUSG00000097239
AA Change: I332F

DomainStartEndE-ValueType
Pfam:tRNA-synt_2c 109 232 3.4e-9 PFAM
tRNA_SAD 327 370 1.43e-6 SMART
low complexity region 407 424 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000133240
Predicted Effect noncoding transcript
Transcript: ENSMUST00000140123
Predicted Effect noncoding transcript
Transcript: ENSMUST00000189049
Meta Mutation Damage Score 0.7730 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.8%
  • 10x: 97.8%
  • 20x: 96.4%
Validation Efficiency 96% (47/49)
Allele List at MGI
Other mutations in this stock
Total: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921524L21Rik G T 18: 6,630,166 (GRCm39) probably null Het
Abcd2 C T 15: 91,058,908 (GRCm39) G512D probably damaging Het
Adam6a T C 12: 113,507,798 (GRCm39) I57T probably benign Het
Adam6b C T 12: 113,453,984 (GRCm39) T267I probably benign Het
Ap1g2 G A 14: 55,338,030 (GRCm39) probably benign Het
Arhgap22 G A 14: 33,089,378 (GRCm39) E455K probably benign Het
Bltp1 G A 3: 37,094,583 (GRCm39) V917I probably damaging Het
Ccdc93 T C 1: 121,389,969 (GRCm39) I253T probably damaging Het
Cd44 T C 2: 102,731,738 (GRCm39) probably null Het
Cnot6 A T 11: 49,579,999 (GRCm39) S98T probably benign Het
Dnah9 C A 11: 65,741,829 (GRCm39) probably null Het
Edar T C 10: 58,457,185 (GRCm39) Y131C probably damaging Het
Eif5 A T 12: 111,506,618 (GRCm39) R43* probably null Het
Eml4 C A 17: 83,780,494 (GRCm39) T667K probably damaging Het
Fchsd1 A G 18: 38,102,510 (GRCm39) probably benign Het
Flt1 A G 5: 147,636,827 (GRCm39) probably benign Het
Frem2 T A 3: 53,424,270 (GRCm39) I3056F probably damaging Het
Hivep1 A T 13: 42,337,787 (GRCm39) H2622L possibly damaging Het
Ido2 T C 8: 25,023,771 (GRCm39) I356V probably benign Het
Insyn2b T C 11: 34,353,007 (GRCm39) S350P probably benign Het
Itgb3 C A 11: 104,524,438 (GRCm39) Y191* probably null Het
Kcnma1 T C 14: 23,350,006 (GRCm39) T1178A possibly damaging Het
Kcnt1 A G 2: 25,790,904 (GRCm39) H486R probably damaging Het
Kif21a T C 15: 90,852,277 (GRCm39) N950S probably benign Het
Lama1 C A 17: 68,086,041 (GRCm39) probably null Het
Lrrc4b T A 7: 44,111,982 (GRCm39) V618E probably damaging Het
Micall2 C T 5: 139,701,611 (GRCm39) G461D possibly damaging Het
Mrc2 G A 11: 105,239,257 (GRCm39) probably null Het
Ncoa6 T A 2: 155,248,858 (GRCm39) N1482I probably damaging Het
Pcdhga10 A G 18: 37,880,995 (GRCm39) N252S probably damaging Het
Pcdhgb7 C A 18: 37,885,286 (GRCm39) T152K possibly damaging Het
Pds5a A G 5: 65,811,419 (GRCm39) V338A possibly damaging Het
Pds5b T C 5: 150,659,802 (GRCm39) V255A possibly damaging Het
Prkar2a T G 9: 108,624,155 (GRCm39) F391V probably damaging Het
Prr14l A G 5: 32,986,328 (GRCm39) C1056R probably damaging Het
Ptpn23 A G 9: 110,218,862 (GRCm39) probably benign Het
Serpinb5 T A 1: 106,802,802 (GRCm39) Y112* probably null Het
Slc17a4 C T 13: 24,085,752 (GRCm39) R387H probably benign Het
Tdrd5 A G 1: 156,113,053 (GRCm39) V409A probably benign Het
Tenm2 A T 11: 35,915,147 (GRCm39) I2129N probably damaging Het
Tmem8b C A 4: 43,689,745 (GRCm39) H800N probably damaging Het
Trpm3 A T 19: 22,964,813 (GRCm39) N1436I probably benign Het
Unc13c A T 9: 73,838,240 (GRCm39) S870R probably benign Het
Vmn2r16 C T 5: 109,510,143 (GRCm39) P509S probably benign Het
Vmn2r60 A T 7: 41,785,125 (GRCm39) E112D probably damaging Het
Xpnpep1 G A 19: 52,992,250 (GRCm39) probably benign Het
Zfp729a A T 13: 67,769,438 (GRCm39) C264S probably damaging Het
Zmynd8 T A 2: 165,657,381 (GRCm39) K521* probably null Het
Other mutations in Aarsd1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01810:Aarsd1 APN 11 101,308,185 (GRCm39) nonsense probably null
R0462:Aarsd1 UTSW 11 101,304,917 (GRCm39) missense probably damaging 1.00
R1885:Aarsd1 UTSW 11 101,302,227 (GRCm39) missense probably benign 0.33
R1886:Aarsd1 UTSW 11 101,302,227 (GRCm39) missense probably benign 0.33
R1909:Aarsd1 UTSW 11 101,301,057 (GRCm39) splice site probably null
R2382:Aarsd1 UTSW 11 101,304,904 (GRCm39) missense probably damaging 0.99
R3821:Aarsd1 UTSW 11 101,301,971 (GRCm39) missense probably damaging 1.00
R3822:Aarsd1 UTSW 11 101,301,971 (GRCm39) missense probably damaging 1.00
R4034:Aarsd1 UTSW 11 101,302,158 (GRCm39) missense probably damaging 1.00
R4701:Aarsd1 UTSW 11 101,301,986 (GRCm39) missense probably benign 0.00
R5204:Aarsd1 UTSW 11 101,297,752 (GRCm39) missense probably damaging 1.00
R5327:Aarsd1 UTSW 11 101,301,203 (GRCm39) missense probably benign 0.30
R5554:Aarsd1 UTSW 11 101,304,807 (GRCm39) missense probably benign 0.01
R7342:Aarsd1 UTSW 11 101,308,018 (GRCm39) missense probably benign 0.00
R7574:Aarsd1 UTSW 11 101,301,970 (GRCm39) missense probably damaging 1.00
R7851:Aarsd1 UTSW 11 101,300,838 (GRCm39) splice site probably null
R8306:Aarsd1 UTSW 11 101,302,194 (GRCm39) missense probably damaging 0.97
R8762:Aarsd1 UTSW 11 101,301,226 (GRCm39) missense probably benign 0.02
R9449:Aarsd1 UTSW 11 101,301,597 (GRCm39) missense probably benign
Predicted Primers PCR Primer
(F):5'- TCTTAGGACACAAGGGCAAG -3'
(R):5'- AAAATCAGAGACCGGCTGC -3'

Sequencing Primer
(F):5'- GGCAAGAGAGACCAGACCC -3'
(R):5'- AGTGTTCGAGAGCTGAGCC -3'
Posted On 2015-04-02