Incidental Mutation 'R4999:Iars1'
ID 389763
Institutional Source Beutler Lab
Gene Symbol Iars1
Ensembl Gene ENSMUSG00000037851
Gene Name isoleucyl-tRNA synthetase 1
Synonyms Iars, 2510016L12Rik, E430001P04Rik
MMRRC Submission 042593-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R4999 (G1)
Quality Score 225
Status Not validated
Chromosome 13
Chromosomal Location 49835606-49887743 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 49863137 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Glycine at position 530 (S530G)
Ref Sequence ENSEMBL: ENSMUSP00000132082 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000047363] [ENSMUST00000164260] [ENSMUST00000165316] [ENSMUST00000171510]
AlphaFold Q8BU30
Predicted Effect probably damaging
Transcript: ENSMUST00000047363
AA Change: S530G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000048096
Gene: ENSMUSG00000037851
AA Change: S530G

DomainStartEndE-ValueType
Pfam:tRNA-synt_1 17 639 9.2e-242 PFAM
Pfam:tRNA-synt_1g 46 197 3.7e-6 PFAM
Pfam:Anticodon_1 693 852 1.1e-23 PFAM
low complexity region 1159 1167 N/A INTRINSIC
low complexity region 1169 1180 N/A INTRINSIC
low complexity region 1220 1229 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000104172
Predicted Effect probably damaging
Transcript: ENSMUST00000164260
AA Change: S530G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000126806
Gene: ENSMUSG00000037851
AA Change: S530G

DomainStartEndE-ValueType
Pfam:tRNA-synt_1 17 639 5.5e-238 PFAM
Pfam:tRNA-synt_1g 46 205 5.2e-8 PFAM
Pfam:tRNA-synt_1g 521 659 2.1e-5 PFAM
Pfam:Anticodon_1 693 852 7.1e-24 PFAM
low complexity region 1159 1167 N/A INTRINSIC
low complexity region 1169 1180 N/A INTRINSIC
low complexity region 1220 1229 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000164275
Predicted Effect noncoding transcript
Transcript: ENSMUST00000165063
Predicted Effect probably damaging
Transcript: ENSMUST00000165316
AA Change: S530G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000132082
Gene: ENSMUSG00000037851
AA Change: S530G

DomainStartEndE-ValueType
Pfam:tRNA-synt_1 17 639 5.5e-238 PFAM
Pfam:tRNA-synt_1g 46 205 5.2e-8 PFAM
Pfam:tRNA-synt_1g 521 659 2.1e-5 PFAM
Pfam:Anticodon_1 693 852 7.1e-24 PFAM
low complexity region 1159 1167 N/A INTRINSIC
low complexity region 1169 1180 N/A INTRINSIC
low complexity region 1220 1229 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000171510
SMART Domains Protein: ENSMUSP00000130204
Gene: ENSMUSG00000037851

DomainStartEndE-ValueType
Pfam:tRNA-synt_1 1 96 5.6e-28 PFAM
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.3%
  • 10x: 96.4%
  • 20x: 92.7%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Aminoacyl-tRNA synthetases catalyze the aminoacylation of tRNA by their cognate amino acid. Because of their central role in linking amino acids with nucleotide triplets contained in tRNAS, aminoacyl-tRNA synthetases are thought to be among the first proteins that appeared in evolution. Isoleucine-tRNA synthetase belongs to the class-I aminoacyl-tRNA synthetase family and has been identified as a target of autoantibodies in the autoimmune disease polymyositis/dermatomyositis. Alternatively spliced transcript variants have been found. [provided by RefSeq, Nov 2012]
Allele List at MGI
Other mutations in this stock
Total: 83 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930444P10Rik A G 1: 16,139,022 (GRCm39) probably null Het
Abca4 T A 3: 121,899,019 (GRCm39) V667D probably damaging Het
Aco1 A G 4: 40,176,507 (GRCm39) I224V probably damaging Het
Arel1 C T 12: 84,978,541 (GRCm39) V364M probably damaging Het
Arhgap42 A G 9: 9,009,435 (GRCm39) V484A probably damaging Het
Asap2 T C 12: 21,302,766 (GRCm39) F681L probably benign Het
Atrn C A 2: 130,817,874 (GRCm39) D809E probably damaging Het
Ccdc70 G A 8: 22,463,266 (GRCm39) V19M possibly damaging Het
Ccp110 G T 7: 118,329,235 (GRCm39) E73* probably null Het
Cfap57 A C 4: 118,453,045 (GRCm39) S553A probably benign Het
Cftr A G 6: 18,221,613 (GRCm39) K212E probably benign Het
Chkb A T 15: 89,312,368 (GRCm39) Y216N probably damaging Het
Cntnap2 G T 6: 45,897,768 (GRCm39) D149Y probably damaging Het
Cpd A G 11: 76,737,048 (GRCm39) probably null Het
Creb3l1 C T 2: 91,813,571 (GRCm39) D489N probably benign Het
Crhbp A G 13: 95,578,753 (GRCm39) F123L probably damaging Het
Cryab T C 9: 50,665,909 (GRCm39) V100A possibly damaging Het
Csmd2 T C 4: 128,415,723 (GRCm39) I2684T probably benign Het
Ctbp2 G T 7: 132,616,378 (GRCm39) P186T possibly damaging Het
Ctnna2 T C 6: 76,892,745 (GRCm39) N814S possibly damaging Het
Dntt T C 19: 41,028,295 (GRCm39) V197A probably damaging Het
Fam135a G A 1: 24,059,758 (GRCm39) A1187V possibly damaging Het
Filip1l A T 16: 57,390,778 (GRCm39) Q455H probably benign Het
Grm2 T C 9: 106,531,189 (GRCm39) E100G probably damaging Het
Gtf2ird2 G A 5: 134,246,306 (GRCm39) V855M probably damaging Het
Heatr9 A T 11: 83,409,618 (GRCm39) I118N possibly damaging Het
Htra3 T C 5: 35,828,469 (GRCm39) H137R probably benign Het
Klhdc4 T A 8: 122,523,342 (GRCm39) M510L probably benign Het
Lipc T C 9: 70,724,013 (GRCm39) T204A probably benign Het
Lrp1 A G 10: 127,389,648 (GRCm39) V3129A probably damaging Het
Macf1 G A 4: 123,388,702 (GRCm39) T1120I probably benign Het
Maco1 A G 4: 134,555,444 (GRCm39) I343T probably benign Het
Map4 T C 9: 109,867,445 (GRCm39) probably benign Het
Mbtps1 A T 8: 120,260,087 (GRCm39) V420D probably damaging Het
Mta2 G T 19: 8,927,747 (GRCm39) D523Y probably benign Het
Mtcl2 C T 2: 156,864,776 (GRCm39) G1144D probably benign Het
Muc4 A G 16: 32,576,670 (GRCm39) probably benign Het
Mug1 C T 6: 121,855,902 (GRCm39) Q965* probably null Het
Myo1e T A 9: 70,260,594 (GRCm39) I584N probably damaging Het
Nolc1 T C 19: 46,067,359 (GRCm39) V80A probably damaging Het
Nop56 G T 2: 130,117,645 (GRCm39) V91L probably benign Het
Or5b99 A T 19: 12,976,583 (GRCm39) M78L probably benign Het
Or5h23 A T 16: 58,906,765 (GRCm39) L27Q probably damaging Het
Or6f2 T C 7: 139,756,933 (GRCm39) V300A probably damaging Het
Osbpl3 T C 6: 50,313,277 (GRCm39) E107G probably damaging Het
Pde3a T A 6: 141,195,751 (GRCm39) C146S probably benign Het
Pfkm A G 15: 98,026,123 (GRCm39) M573V probably damaging Het
Pkd1l2 C T 8: 117,774,113 (GRCm39) probably null Het
Plekhg3 T C 12: 76,612,021 (GRCm39) I374T possibly damaging Het
Ppig T A 2: 69,571,830 (GRCm39) V183D unknown Het
Prom1 T G 5: 44,194,876 (GRCm39) I290L probably benign Het
Rufy3 T A 5: 88,785,085 (GRCm39) M387K probably damaging Het
Selenoo G A 15: 88,978,387 (GRCm39) R270H probably damaging Het
Sema3d T A 5: 12,558,054 (GRCm39) probably null Het
Sema6c C T 3: 95,075,674 (GRCm39) T175I probably damaging Het
Serpina3k T C 12: 104,307,305 (GRCm39) I179T probably damaging Het
Sf3b3 T C 8: 111,567,835 (GRCm39) T207A probably benign Het
Slc22a26 C A 19: 7,779,546 (GRCm39) R90L probably damaging Het
Slitrk5 T C 14: 111,917,648 (GRCm39) V424A probably damaging Het
Smarca2 G T 19: 26,698,255 (GRCm39) E89* probably null Het
Stab2 T A 10: 86,773,773 (GRCm39) S853C probably damaging Het
Stk17b A T 1: 53,800,306 (GRCm39) probably null Het
Taar5 T A 10: 23,847,445 (GRCm39) I281N possibly damaging Het
Tars3 A T 7: 65,308,683 (GRCm39) E284D probably damaging Het
Tbx15 C A 3: 99,223,649 (GRCm39) T279K probably damaging Het
Tfr2 G A 5: 137,585,187 (GRCm39) V740I probably benign Het
Tlr12 T C 4: 128,511,473 (GRCm39) E259G probably benign Het
Tmem145 A G 7: 25,008,459 (GRCm39) T302A probably benign Het
Trappc14 T A 5: 138,259,884 (GRCm39) T391S probably damaging Het
Trpa1 G T 1: 14,946,085 (GRCm39) H1015Q probably benign Het
Tspan8 A G 10: 115,653,534 (GRCm39) Y10C possibly damaging Het
Ttll7 A G 3: 146,600,224 (GRCm39) N44S probably damaging Het
Uba7 T C 9: 107,857,038 (GRCm39) probably null Het
Ube2j2 G A 4: 156,030,841 (GRCm39) M1I probably null Het
Ubr5 C A 15: 38,009,912 (GRCm39) A1022S probably benign Het
Usf1 T G 1: 171,243,331 (GRCm39) I36S probably damaging Het
Vmn1r181 A T 7: 23,683,790 (GRCm39) D85V probably damaging Het
Vmn1r3 A T 4: 3,185,009 (GRCm39) Y99* probably null Het
Vmn1r72 T C 7: 11,404,300 (GRCm39) I49M possibly damaging Het
Vmn2r99 A G 17: 19,582,397 (GRCm39) M1V probably null Het
Vsig10 T A 5: 117,482,040 (GRCm39) V410E probably damaging Het
Zc3h7b A G 15: 81,663,334 (GRCm39) Y442C probably damaging Het
Zfyve26 G T 12: 79,327,159 (GRCm39) Y730* probably null Het
Other mutations in Iars1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00697:Iars1 APN 13 49,863,204 (GRCm39) missense probably damaging 1.00
IGL00764:Iars1 APN 13 49,865,303 (GRCm39) missense probably benign 0.34
IGL01153:Iars1 APN 13 49,865,281 (GRCm39) missense probably damaging 1.00
IGL01481:Iars1 APN 13 49,882,174 (GRCm39) missense probably benign 0.00
IGL01596:Iars1 APN 13 49,856,652 (GRCm39) missense probably benign
IGL01682:Iars1 APN 13 49,863,134 (GRCm39) missense probably damaging 1.00
IGL01885:Iars1 APN 13 49,844,975 (GRCm39) missense probably benign 0.25
IGL01907:Iars1 APN 13 49,863,131 (GRCm39) missense probably damaging 1.00
IGL02023:Iars1 APN 13 49,841,725 (GRCm39) missense probably damaging 1.00
IGL02121:Iars1 APN 13 49,878,172 (GRCm39) missense probably benign 0.00
IGL02365:Iars1 APN 13 49,844,975 (GRCm39) missense probably benign 0.25
IGL02704:Iars1 APN 13 49,874,576 (GRCm39) missense probably damaging 1.00
IGL02838:Iars1 APN 13 49,843,965 (GRCm39) missense possibly damaging 0.87
IGL02975:Iars1 APN 13 49,858,325 (GRCm39) missense probably damaging 1.00
IGL02982:Iars1 APN 13 49,863,185 (GRCm39) missense probably benign 0.00
IGL03034:Iars1 APN 13 49,843,965 (GRCm39) missense possibly damaging 0.87
IGL03060:Iars1 APN 13 49,843,923 (GRCm39) critical splice acceptor site probably null
IGL03156:Iars1 APN 13 49,856,655 (GRCm39) missense possibly damaging 0.87
IGL03206:Iars1 APN 13 49,846,546 (GRCm39) missense possibly damaging 0.81
IGL03343:Iars1 APN 13 49,878,223 (GRCm39) missense probably benign 0.12
gannett_peak UTSW 13 49,861,897 (GRCm39) missense probably damaging 1.00
missouri UTSW 13 49,841,752 (GRCm39) missense possibly damaging 0.82
spacex UTSW 13 49,876,478 (GRCm39) missense possibly damaging 0.85
wind_river UTSW 13 49,855,371 (GRCm39) missense probably damaging 1.00
R0054:Iars1 UTSW 13 49,846,611 (GRCm39) missense probably damaging 1.00
R0054:Iars1 UTSW 13 49,846,611 (GRCm39) missense probably damaging 1.00
R0184:Iars1 UTSW 13 49,875,688 (GRCm39) missense probably benign 0.00
R0200:Iars1 UTSW 13 49,879,678 (GRCm39) missense possibly damaging 0.62
R0356:Iars1 UTSW 13 49,856,709 (GRCm39) missense probably benign 0.03
R0383:Iars1 UTSW 13 49,885,818 (GRCm39) missense probably damaging 0.99
R0657:Iars1 UTSW 13 49,855,995 (GRCm39) missense probably damaging 1.00
R1005:Iars1 UTSW 13 49,840,921 (GRCm39) missense possibly damaging 0.94
R1427:Iars1 UTSW 13 49,857,745 (GRCm39) critical splice acceptor site probably null
R1449:Iars1 UTSW 13 49,887,186 (GRCm39) missense probably damaging 0.99
R1647:Iars1 UTSW 13 49,876,478 (GRCm39) missense possibly damaging 0.85
R1648:Iars1 UTSW 13 49,876,478 (GRCm39) missense possibly damaging 0.85
R1664:Iars1 UTSW 13 49,865,251 (GRCm39) missense probably damaging 0.98
R1763:Iars1 UTSW 13 49,876,553 (GRCm39) critical splice donor site probably null
R2192:Iars1 UTSW 13 49,841,605 (GRCm39) splice site probably null
R2203:Iars1 UTSW 13 49,876,151 (GRCm39) missense probably benign 0.00
R2357:Iars1 UTSW 13 49,841,679 (GRCm39) missense probably damaging 1.00
R3724:Iars1 UTSW 13 49,840,860 (GRCm39) critical splice acceptor site probably null
R4785:Iars1 UTSW 13 49,878,139 (GRCm39) missense probably damaging 0.99
R4934:Iars1 UTSW 13 49,871,460 (GRCm39) missense probably benign 0.17
R5048:Iars1 UTSW 13 49,841,713 (GRCm39) missense probably damaging 0.99
R5268:Iars1 UTSW 13 49,843,967 (GRCm39) missense probably damaging 1.00
R5394:Iars1 UTSW 13 49,875,641 (GRCm39) missense probably damaging 1.00
R5486:Iars1 UTSW 13 49,863,049 (GRCm39) splice site probably null
R5960:Iars1 UTSW 13 49,878,113 (GRCm39) missense possibly damaging 0.68
R5972:Iars1 UTSW 13 49,863,108 (GRCm39) missense possibly damaging 0.91
R5978:Iars1 UTSW 13 49,876,469 (GRCm39) missense probably damaging 0.99
R6031:Iars1 UTSW 13 49,859,307 (GRCm39) missense probably damaging 0.98
R6031:Iars1 UTSW 13 49,859,307 (GRCm39) missense probably damaging 0.98
R6092:Iars1 UTSW 13 49,861,897 (GRCm39) missense probably damaging 1.00
R6167:Iars1 UTSW 13 49,876,190 (GRCm39) missense probably damaging 1.00
R6313:Iars1 UTSW 13 49,861,921 (GRCm39) missense probably damaging 0.99
R6358:Iars1 UTSW 13 49,880,619 (GRCm39) missense possibly damaging 0.67
R6385:Iars1 UTSW 13 49,855,371 (GRCm39) missense probably damaging 1.00
R6403:Iars1 UTSW 13 49,840,971 (GRCm39) missense probably damaging 1.00
R6575:Iars1 UTSW 13 49,878,745 (GRCm39) missense probably damaging 1.00
R6675:Iars1 UTSW 13 49,873,054 (GRCm39) missense probably damaging 0.99
R6957:Iars1 UTSW 13 49,875,637 (GRCm39) missense probably damaging 1.00
R7207:Iars1 UTSW 13 49,841,791 (GRCm39) critical splice donor site probably null
R7254:Iars1 UTSW 13 49,876,554 (GRCm39) critical splice donor site probably null
R7354:Iars1 UTSW 13 49,857,796 (GRCm39) missense probably benign
R7397:Iars1 UTSW 13 49,882,153 (GRCm39) missense probably benign 0.00
R7696:Iars1 UTSW 13 49,860,214 (GRCm39) missense probably damaging 1.00
R7799:Iars1 UTSW 13 49,876,494 (GRCm39) missense probably damaging 1.00
R7828:Iars1 UTSW 13 49,878,748 (GRCm39) missense probably benign
R8679:Iars1 UTSW 13 49,856,675 (GRCm39) unclassified probably benign
R8768:Iars1 UTSW 13 49,878,102 (GRCm39) missense probably damaging 0.99
R8797:Iars1 UTSW 13 49,841,738 (GRCm39) missense probably benign 0.12
R8906:Iars1 UTSW 13 49,882,177 (GRCm39) missense probably benign
R8990:Iars1 UTSW 13 49,841,752 (GRCm39) missense possibly damaging 0.82
R9134:Iars1 UTSW 13 49,855,323 (GRCm39) missense probably benign 0.00
R9137:Iars1 UTSW 13 49,855,350 (GRCm39) missense probably benign
R9394:Iars1 UTSW 13 49,883,536 (GRCm39) missense probably benign
R9668:Iars1 UTSW 13 49,840,885 (GRCm39) missense probably damaging 0.98
R9741:Iars1 UTSW 13 49,844,978 (GRCm39) missense probably damaging 0.99
Z1088:Iars1 UTSW 13 49,874,564 (GRCm39) missense probably benign
Predicted Primers PCR Primer
(F):5'- CTCACCAAAGTACTGTAGCATGAC -3'
(R):5'- AGGCATGTGGGCATTTAGAAAC -3'

Sequencing Primer
(F):5'- GTACTGTAGCATGACACATGAATG -3'
(R):5'- TAGAAACTCATGCTTGGCGC -3'
Posted On 2016-06-06