Incidental Mutation 'IGL01810:Aarsd1'
ID155821
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Aarsd1
Ensembl Gene ENSMUSG00000075528
Gene Namealanyl-tRNA synthetase domain containing 1
Synonyms2310044P18Rik
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.396) question?
Stock #IGL01810
Quality Score
Status
Chromosome11
Chromosomal Location101406839-101417615 bp(-) (GRCm38)
Type of Mutationnonsense
DNA Base Change (assembly) G to T at 101417359 bp
ZygosityHeterozygous
Amino Acid Change Tyrosine to Stop codon at position 10 (Y10*)
Ref Sequence ENSEMBL: ENSMUSP00000067912 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000070395] [ENSMUST00000093933] [ENSMUST00000103102] [ENSMUST00000107252] [ENSMUST00000107257] [ENSMUST00000107259]
Predicted Effect probably null
Transcript: ENSMUST00000070395
AA Change: Y10*
SMART Domains Protein: ENSMUSP00000067912
Gene: ENSMUSG00000075528
AA Change: Y10*

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 benign
Transcript: ENSMUST00000093933
SMART Domains Protein: ENSMUSP00000091465
Gene: ENSMUSG00000097487

DomainStartEndE-ValueType
Pfam:CS 6 80 8.7e-9 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000103102
SMART Domains Protein: ENSMUSP00000099391
Gene: ENSMUSG00000097487

DomainStartEndE-ValueType
Pfam:CS 6 80 7.3e-9 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000107252
SMART Domains Protein: ENSMUSP00000102873
Gene: ENSMUSG00000097487

DomainStartEndE-ValueType
Pfam:CS 6 80 9.6e-9 PFAM
low complexity region 141 149 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000107257
SMART Domains Protein: ENSMUSP00000102878
Gene: ENSMUSG00000097239

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 benign
Transcript: ENSMUST00000107259
SMART Domains Protein: ENSMUSP00000102880
Gene: ENSMUSG00000097239

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: ENSMUST00000125472
Predicted Effect noncoding transcript
Transcript: ENSMUST00000133240
Predicted Effect noncoding transcript
Transcript: ENSMUST00000140123
Predicted Effect probably benign
Transcript: ENSMUST00000149706
SMART Domains Protein: ENSMUSP00000116399
Gene: ENSMUSG00000097487

DomainStartEndE-ValueType
SCOP:d1ejfa_ 2 41 6e-11 SMART
PDB:1EJF|B 2 56 2e-13 PDB
Predicted Effect noncoding transcript
Transcript: ENSMUST00000150957
Predicted Effect noncoding transcript
Transcript: ENSMUST00000185077
Predicted Effect noncoding transcript
Transcript: ENSMUST00000189049
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aass C A 6: 23,107,634 Q383H probably damaging Het
Bag1 T C 4: 40,936,657 D333G probably damaging Het
Cap2 A G 13: 46,639,949 probably benign Het
Col27a1 G T 4: 63,225,631 A519S probably benign Het
Cr2 A G 1: 195,159,595 V726A possibly damaging Het
Csmd2 A G 4: 128,480,845 probably benign Het
Dennd4c A G 4: 86,799,551 D595G possibly damaging Het
Ercc2 G T 7: 19,393,449 R340L probably damaging Het
Espl1 A G 15: 102,298,205 T35A probably benign Het
Fndc3a A G 14: 72,566,141 Y525H probably benign Het
Gm4922 T C 10: 18,784,047 Q309R probably benign Het
Gm5263 T C 1: 146,420,554 noncoding transcript Het
Gm6563 A C 19: 23,676,387 R180S probably damaging Het
Gpr182 C A 10: 127,750,864 V73F probably damaging Het
Gramd1b C T 9: 40,315,773 R179H probably damaging Het
Hk1 C T 10: 62,353,105 A10T probably benign Het
Hmgn3 C A 9: 83,110,384 probably benign Het
Il1b C T 2: 129,369,729 E24K probably damaging Het
Itgb6 G T 2: 60,627,985 Q475K probably benign Het
Lrrc74b A G 16: 17,545,558 S368P probably benign Het
Mfsd2b T C 12: 4,866,469 T234A possibly damaging Het
Muc6 A T 7: 141,651,062 Y270N probably damaging Het
Naip6 A G 13: 100,288,095 probably benign Het
Olfr142 A T 2: 90,252,132 Y285* probably null Het
Pear1 G A 3: 87,752,301 T742I probably damaging Het
Peli2 G A 14: 48,256,034 V238I probably benign Het
Pira2 A G 7: 3,844,612 L26P probably damaging Het
Pot1b A G 17: 55,662,521 V549A possibly damaging Het
Prdm16 T C 4: 154,347,927 Y295C probably benign Het
Ptprd A T 4: 76,140,507 probably benign Het
Rap1gap A T 4: 137,716,155 M145L probably benign Het
Setd7 A T 3: 51,532,967 probably benign Het
Ssx2ip T C 3: 146,428,010 I258T probably benign Het
Stard9 T C 2: 120,699,084 Y1941H possibly damaging Het
Stxbp3 T C 3: 108,800,152 E420G probably benign Het
Tpra1 T C 6: 88,909,342 V101A probably damaging Het
Tpx2 G T 2: 152,884,235 Q373H probably damaging Het
Ttn C T 2: 76,727,008 R29914Q probably damaging Het
Ubr3 T C 2: 70,003,465 probably null Het
Usp18 G A 6: 121,253,771 G53D probably damaging Het
Vps13c A T 9: 67,955,780 H3026L probably benign Het
Zan T C 5: 137,463,626 E1097G unknown Het
Other mutations in Aarsd1
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0462:Aarsd1 UTSW 11 101414091 missense probably damaging 1.00
R1885:Aarsd1 UTSW 11 101411401 missense probably benign 0.33
R1886:Aarsd1 UTSW 11 101411401 missense probably benign 0.33
R1909:Aarsd1 UTSW 11 101410231 intron probably null
R2382:Aarsd1 UTSW 11 101414078 missense probably damaging 0.99
R3820:Aarsd1 UTSW 11 101411145 missense probably damaging 1.00
R3821:Aarsd1 UTSW 11 101411145 missense probably damaging 1.00
R3822:Aarsd1 UTSW 11 101411145 missense probably damaging 1.00
R4034:Aarsd1 UTSW 11 101411332 missense probably damaging 1.00
R4701:Aarsd1 UTSW 11 101411160 missense probably benign 0.00
R5204:Aarsd1 UTSW 11 101406926 missense probably damaging 1.00
R5327:Aarsd1 UTSW 11 101410377 missense probably benign 0.30
R5554:Aarsd1 UTSW 11 101413981 missense probably benign 0.01
Posted On2014-02-04