Incidental Mutation 'R5204:Aarsd1'
ID 398360
Institutional Source Beutler Lab
Gene Symbol Aarsd1
Ensembl Gene ENSMUSG00000075528
Gene Name alanyl-tRNA synthetase domain containing 1
Synonyms 2310044P18Rik
MMRRC Submission 042779-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.573) question?
Stock # R5204 (G1)
Quality Score 225
Status Not validated
Chromosome 11
Chromosomal Location 101297665-101308441 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 101297752 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Glutamine at position 532 (L532Q)
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: L401Q

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000067912
Gene: ENSMUSG00000075528
AA Change: L401Q

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: L514Q

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000102878
Gene: ENSMUSG00000097239
AA Change: L514Q

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: L532Q

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000102880
Gene: ENSMUSG00000097239
AA Change: L532Q

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
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.1%
  • 20x: 95.0%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abt1 G A 13: 23,606,838 (GRCm39) R88C probably damaging Het
Aopep G A 13: 63,180,904 (GRCm39) V289I probably benign Het
Arhgef7 T A 8: 11,850,775 (GRCm39) L129* probably null Het
Arid1b T C 17: 5,393,316 (GRCm39) V2282A probably damaging Het
Bivm G C 1: 44,177,738 (GRCm39) G346A probably damaging Het
Cav1 T C 6: 17,339,254 (GRCm39) L102P probably damaging Het
Ccdc57 A G 11: 120,776,888 (GRCm39) V504A possibly damaging Het
Cd7 A T 11: 120,928,860 (GRCm39) probably null Het
Cdh3 T C 8: 107,270,871 (GRCm39) V508A probably benign Het
Chrd A T 16: 20,554,822 (GRCm39) I413F probably benign Het
Clec4b1 T A 6: 123,048,494 (GRCm39) *210R probably null Het
Clock A T 5: 76,391,017 (GRCm39) probably null Het
Col4a2 T A 8: 11,448,651 (GRCm39) probably null Het
Gpx7 T C 4: 108,260,512 (GRCm39) T95A probably benign Het
Hivep3 T A 4: 119,961,053 (GRCm39) probably null Het
Hrc A G 7: 44,985,128 (GRCm39) Y93C possibly damaging Het
Igkv4-80 A C 6: 68,993,649 (GRCm39) S81A probably benign Het
Klhl5 G T 5: 65,288,781 (GRCm39) L14F possibly damaging Het
Mcm6 A G 1: 128,261,375 (GRCm39) L743P probably benign Het
Nrxn1 A T 17: 90,469,792 (GRCm39) F57Y probably damaging Het
Or51af1 C T 7: 103,141,747 (GRCm39) V113M probably damaging Het
Otx1 C A 11: 21,947,037 (GRCm39) A91S probably damaging Het
Pcdh20 G T 14: 88,706,351 (GRCm39) D316E probably damaging Het
Pcdhb12 T A 18: 37,569,142 (GRCm39) V96E probably damaging Het
Pi4ka A T 16: 17,176,909 (GRCm39) L346M possibly damaging Het
Pkhd1l1 A C 15: 44,410,437 (GRCm39) N2648T possibly damaging Het
Rufy1 C T 11: 50,297,261 (GRCm39) R397Q probably damaging Het
Sema5a G T 15: 32,686,793 (GRCm39) M968I probably benign Het
Slc33a1 A G 3: 63,871,167 (GRCm39) Y149H probably damaging Het
Tln2 T A 9: 67,261,764 (GRCm39) R658S probably benign Het
Tmem30c T C 16: 57,090,385 (GRCm39) N274S possibly damaging Het
Tor3a A G 1: 156,483,270 (GRCm39) L384P probably damaging Het
Trpm3 T A 19: 22,425,705 (GRCm39) L20* probably null Het
Ttn T A 2: 76,560,556 (GRCm39) I20955F probably damaging Het
Usp15 A T 10: 122,949,545 (GRCm39) S908R probably benign Het
Zfp866 A G 8: 70,218,690 (GRCm39) L310P probably damaging 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
R3820:Aarsd1 UTSW 11 101,301,971 (GRCm39) missense probably damaging 1.00
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
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'- TACCGGTGCTAGTCGCTTTAG -3'
(R):5'- CTGGAGTATGTGTTCCTTGGAAAC -3'

Sequencing Primer
(F):5'- CTAGTCGCTTTAGCACACTGGAG -3'
(R):5'- GTGTTCCTTGGAAACATCACAAG -3'
Posted On 2016-07-06