Incidental Mutation 'R0184:Iars1'
ID 23991
Institutional Source Beutler Lab
Gene Symbol Iars1
Ensembl Gene ENSMUSG00000037851
Gene Name isoleucyl-tRNA synthetase 1
Synonyms Iars, 2510016L12Rik, E430001P04Rik
MMRRC Submission 038449-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R0184 (G1)
Quality Score 225
Status Validated (trace)
Chromosome 13
Chromosomal Location 49682100-49734267 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to G at 49722212 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Serine to Alanine at position 792 (S792A)
Ref Sequence ENSEMBL: ENSMUSP00000132082 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000047363] [ENSMUST00000164260] [ENSMUST00000165316]
AlphaFold Q8BU30
Predicted Effect probably benign
Transcript: ENSMUST00000047363
AA Change: S792A

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000048096
Gene: ENSMUSG00000037851
AA Change: S792A

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 probably benign
Transcript: ENSMUST00000164260
AA Change: S792A

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000126806
Gene: ENSMUSG00000037851
AA Change: S792A

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: ENSMUST00000165270
Predicted Effect probably benign
Transcript: ENSMUST00000165316
AA Change: S792A

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000132082
Gene: ENSMUSG00000037851
AA Change: S792A

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: ENSMUST00000165656
Meta Mutation Damage Score 0.0887 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.3%
  • 10x: 96.6%
  • 20x: 93.9%
Validation Efficiency 66% (50/76)
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: 74 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700006A11Rik C A 3: 124,419,250 (GRCm38) V131F probably damaging Het
Adam28 T C 14: 68,637,373 (GRCm38) D285G probably benign Het
Akr1c13 A G 13: 4,194,056 (GRCm38) E36G probably damaging Het
Antxr2 A G 5: 97,980,030 (GRCm38) L214S probably damaging Het
Arhgap26 T A 18: 38,617,673 (GRCm38) D46E unknown Het
Armc9 T C 1: 86,198,370 (GRCm38) L61P probably damaging Het
Bicc1 C A 10: 71,079,215 (GRCm38) R73L probably benign Het
Calm2 T C 17: 87,435,841 (GRCm38) N43S probably benign Het
Cct7 A G 6: 85,461,554 (GRCm38) D105G probably null Het
Cdk18 T C 1: 132,118,538 (GRCm38) N215D probably benign Het
Cep126 T C 9: 8,103,395 (GRCm38) T205A probably benign Het
Cfap57 A T 4: 118,599,012 (GRCm38) I495N probably damaging Het
Cyp2b9 T A 7: 26,187,007 (GRCm38) C152* probably null Het
Dab2ip G A 2: 35,718,791 (GRCm38) R579H probably damaging Het
Dnah8 T C 17: 30,683,683 (GRCm38) V905A probably benign Het
Eif4h C A 5: 134,625,375 (GRCm38) D134Y possibly damaging Het
Espl1 T A 15: 102,299,216 (GRCm38) S372T probably benign Het
Fat2 T A 11: 55,296,288 (GRCm38) H1244L probably damaging Het
Fbxo11 T A 17: 88,008,673 (GRCm38) N443I probably benign Het
Git2 G A 5: 114,739,037 (GRCm38) T128M possibly damaging Het
Gm10985 T A 3: 53,845,258 (GRCm38) Y21N probably damaging Het
Gm12790 A T 4: 101,967,614 (GRCm38) Y152* probably null Het
Heatr5a T C 12: 51,909,969 (GRCm38) D1115G probably benign Het
Hipk2 T C 6: 38,718,931 (GRCm38) N726S possibly damaging Het
Hrg T C 16: 22,953,771 (GRCm38) probably null Het
Igf1r A G 7: 68,226,193 (GRCm38) N1301S possibly damaging Het
Il22 A T 10: 118,205,606 (GRCm38) I75F probably damaging Het
Ilkap T C 1: 91,376,305 (GRCm38) probably benign Het
Ints13 A T 6: 146,555,044 (GRCm38) Y435N probably benign Het
Ints8 A C 4: 11,218,637 (GRCm38) S797A probably benign Het
Itgad T A 7: 128,189,231 (GRCm38) D405E probably benign Het
Itgam A T 7: 128,086,058 (GRCm38) I448F probably damaging Het
Klk1 C T 7: 44,228,749 (GRCm38) T41I possibly damaging Het
Mcrip1 T C 11: 120,544,884 (GRCm38) M1V probably null Het
Mdga1 A G 17: 29,852,442 (GRCm38) Y128H probably damaging Het
Mtor G T 4: 148,464,971 (GRCm38) R604L probably benign Het
Or52p1 T C 7: 104,618,240 (GRCm38) V187A probably damaging Het
Or5d41 A T 2: 88,224,780 (GRCm38) L84* probably null Het
Pcdhb7 T A 18: 37,343,390 (GRCm38) D526E probably benign Het
Pip4k2a T C 2: 18,889,128 (GRCm38) D139G probably damaging Het
Pkp3 A C 7: 141,088,367 (GRCm38) N536T probably benign Het
Pla2g4c T A 7: 13,356,220 (GRCm38) S524T probably benign Het
Pno1 T C 11: 17,211,127 (GRCm38) E69G probably benign Het
Pold1 C T 7: 44,541,715 (GRCm38) V231M probably benign Het
Poli A G 18: 70,522,731 (GRCm38) S248P probably damaging Het
Ppox C T 1: 171,279,552 (GRCm38) S138N probably damaging Het
Psg20 T C 7: 18,685,976 (GRCm38) E6G probably null Het
Rbmx C T X: 57,391,566 (GRCm38) probably null Het
Rln1 T A 19: 29,331,936 (GRCm38) K148* probably null Het
Rnf213 C T 11: 119,414,521 (GRCm38) T526I probably damaging Het
Rps6kc1 A T 1: 190,799,093 (GRCm38) V904E probably null Het
Sf3b2 T A 19: 5,283,672 (GRCm38) I633F probably damaging Het
Sfswap T A 5: 129,507,189 (GRCm38) I189N probably damaging Het
Smarca2 T A 19: 26,692,249 (GRCm38) Y973* probably null Het
Spink5 G A 18: 44,003,198 (GRCm38) D559N probably benign Het
Spty2d1 C T 7: 46,997,574 (GRCm38) V536I possibly damaging Het
Tbx3 T C 5: 119,675,562 (GRCm38) I221T probably damaging Het
Tcf20 T A 15: 82,852,300 (GRCm38) D1650V probably damaging Het
Thsd7b A G 1: 129,430,964 (GRCm38) K45R probably benign Het
Tirap A G 9: 35,189,194 (GRCm38) S65P probably benign Het
Trim25 C T 11: 88,999,640 (GRCm38) P51L probably damaging Het
Trim61 T C 8: 65,014,417 (GRCm38) N64S probably benign Het
Twf1 T A 15: 94,581,067 (GRCm38) probably null Het
Ubr4 A C 4: 139,445,262 (GRCm38) T1692P probably damaging Het
Usp3 A G 9: 66,562,581 (GRCm38) M86T probably damaging Het
Utrn T C 10: 12,667,618 (GRCm38) D1762G probably benign Het
V1rd19 T A 7: 24,003,207 (GRCm38) F33I probably benign Het
Vmn2r52 T C 7: 10,159,338 (GRCm38) S625G probably damaging Het
Vmn2r90 G A 17: 17,726,877 (GRCm38) W472* probably null Het
Vrk2 C A 11: 26,550,046 (GRCm38) A56S probably damaging Het
Yeats2 C T 16: 20,203,685 (GRCm38) P620S possibly damaging Het
Zbtb21 C T 16: 97,950,513 (GRCm38) D171N probably damaging Het
Zeb1 A T 18: 5,766,808 (GRCm38) I440F probably damaging Het
Zfp292 A G 4: 34,819,563 (GRCm38) I253T probably damaging Het
Other mutations in Iars1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00697:Iars1 APN 13 49,709,728 (GRCm38) missense probably damaging 1.00
IGL00764:Iars1 APN 13 49,711,827 (GRCm38) missense probably benign 0.34
IGL01153:Iars1 APN 13 49,711,805 (GRCm38) missense probably damaging 1.00
IGL01481:Iars1 APN 13 49,728,698 (GRCm38) missense probably benign 0.00
IGL01596:Iars1 APN 13 49,703,176 (GRCm38) missense probably benign
IGL01682:Iars1 APN 13 49,709,658 (GRCm38) missense probably damaging 1.00
IGL01885:Iars1 APN 13 49,691,499 (GRCm38) missense probably benign 0.25
IGL01907:Iars1 APN 13 49,709,655 (GRCm38) missense probably damaging 1.00
IGL02023:Iars1 APN 13 49,688,249 (GRCm38) missense probably damaging 1.00
IGL02121:Iars1 APN 13 49,724,696 (GRCm38) missense probably benign 0.00
IGL02365:Iars1 APN 13 49,691,499 (GRCm38) missense probably benign 0.25
IGL02704:Iars1 APN 13 49,721,100 (GRCm38) missense probably damaging 1.00
IGL02838:Iars1 APN 13 49,690,489 (GRCm38) missense possibly damaging 0.87
IGL02975:Iars1 APN 13 49,704,849 (GRCm38) missense probably damaging 1.00
IGL02982:Iars1 APN 13 49,709,709 (GRCm38) missense probably benign 0.00
IGL03034:Iars1 APN 13 49,690,489 (GRCm38) missense possibly damaging 0.87
IGL03060:Iars1 APN 13 49,690,447 (GRCm38) critical splice acceptor site probably null
IGL03156:Iars1 APN 13 49,703,179 (GRCm38) missense possibly damaging 0.87
IGL03206:Iars1 APN 13 49,693,070 (GRCm38) missense possibly damaging 0.81
IGL03343:Iars1 APN 13 49,724,747 (GRCm38) missense probably benign 0.12
gannett_peak UTSW 13 49,708,421 (GRCm38) missense probably damaging 1.00
missouri UTSW 13 49,688,276 (GRCm38) missense possibly damaging 0.82
spacex UTSW 13 49,723,002 (GRCm38) missense possibly damaging 0.85
wind_river UTSW 13 49,701,895 (GRCm38) missense probably damaging 1.00
R0054:Iars1 UTSW 13 49,693,135 (GRCm38) missense probably damaging 1.00
R0054:Iars1 UTSW 13 49,693,135 (GRCm38) missense probably damaging 1.00
R0200:Iars1 UTSW 13 49,726,202 (GRCm38) missense possibly damaging 0.62
R0356:Iars1 UTSW 13 49,703,233 (GRCm38) missense probably benign 0.03
R0383:Iars1 UTSW 13 49,732,342 (GRCm38) missense probably damaging 0.99
R0657:Iars1 UTSW 13 49,702,519 (GRCm38) missense probably damaging 1.00
R1005:Iars1 UTSW 13 49,687,445 (GRCm38) missense possibly damaging 0.94
R1427:Iars1 UTSW 13 49,704,269 (GRCm38) critical splice acceptor site probably null
R1449:Iars1 UTSW 13 49,733,710 (GRCm38) missense probably damaging 0.99
R1647:Iars1 UTSW 13 49,723,002 (GRCm38) missense possibly damaging 0.85
R1648:Iars1 UTSW 13 49,723,002 (GRCm38) missense possibly damaging 0.85
R1664:Iars1 UTSW 13 49,711,775 (GRCm38) missense probably damaging 0.98
R1763:Iars1 UTSW 13 49,723,077 (GRCm38) critical splice donor site probably null
R2192:Iars1 UTSW 13 49,688,129 (GRCm38) splice site probably null
R2203:Iars1 UTSW 13 49,722,675 (GRCm38) missense probably benign 0.00
R2357:Iars1 UTSW 13 49,688,203 (GRCm38) missense probably damaging 1.00
R3724:Iars1 UTSW 13 49,687,384 (GRCm38) critical splice acceptor site probably null
R4785:Iars1 UTSW 13 49,724,663 (GRCm38) missense probably damaging 0.99
R4934:Iars1 UTSW 13 49,717,984 (GRCm38) missense probably benign 0.17
R4999:Iars1 UTSW 13 49,709,661 (GRCm38) missense probably damaging 1.00
R5048:Iars1 UTSW 13 49,688,237 (GRCm38) missense probably damaging 0.99
R5268:Iars1 UTSW 13 49,690,491 (GRCm38) missense probably damaging 1.00
R5394:Iars1 UTSW 13 49,722,165 (GRCm38) missense probably damaging 1.00
R5486:Iars1 UTSW 13 49,709,573 (GRCm38) splice site probably null
R5960:Iars1 UTSW 13 49,724,637 (GRCm38) missense possibly damaging 0.68
R5972:Iars1 UTSW 13 49,709,632 (GRCm38) missense possibly damaging 0.91
R5978:Iars1 UTSW 13 49,722,993 (GRCm38) missense probably damaging 0.99
R6031:Iars1 UTSW 13 49,705,831 (GRCm38) missense probably damaging 0.98
R6031:Iars1 UTSW 13 49,705,831 (GRCm38) missense probably damaging 0.98
R6092:Iars1 UTSW 13 49,708,421 (GRCm38) missense probably damaging 1.00
R6167:Iars1 UTSW 13 49,722,714 (GRCm38) missense probably damaging 1.00
R6313:Iars1 UTSW 13 49,708,445 (GRCm38) missense probably damaging 0.99
R6358:Iars1 UTSW 13 49,727,143 (GRCm38) missense possibly damaging 0.67
R6385:Iars1 UTSW 13 49,701,895 (GRCm38) missense probably damaging 1.00
R6403:Iars1 UTSW 13 49,687,495 (GRCm38) missense probably damaging 1.00
R6575:Iars1 UTSW 13 49,725,269 (GRCm38) missense probably damaging 1.00
R6675:Iars1 UTSW 13 49,719,578 (GRCm38) missense probably damaging 0.99
R6957:Iars1 UTSW 13 49,722,161 (GRCm38) missense probably damaging 1.00
R7207:Iars1 UTSW 13 49,688,315 (GRCm38) critical splice donor site probably null
R7254:Iars1 UTSW 13 49,723,078 (GRCm38) critical splice donor site probably null
R7354:Iars1 UTSW 13 49,704,320 (GRCm38) missense probably benign
R7397:Iars1 UTSW 13 49,728,677 (GRCm38) missense probably benign 0.00
R7696:Iars1 UTSW 13 49,706,738 (GRCm38) missense probably damaging 1.00
R7799:Iars1 UTSW 13 49,723,018 (GRCm38) missense probably damaging 1.00
R7828:Iars1 UTSW 13 49,725,272 (GRCm38) missense probably benign
R8679:Iars1 UTSW 13 49,703,199 (GRCm38) unclassified probably benign
R8768:Iars1 UTSW 13 49,724,626 (GRCm38) missense probably damaging 0.99
R8797:Iars1 UTSW 13 49,688,262 (GRCm38) missense probably benign 0.12
R8906:Iars1 UTSW 13 49,728,701 (GRCm38) missense probably benign
R8990:Iars1 UTSW 13 49,688,276 (GRCm38) missense possibly damaging 0.82
R9134:Iars1 UTSW 13 49,701,847 (GRCm38) missense probably benign 0.00
R9137:Iars1 UTSW 13 49,701,874 (GRCm38) missense probably benign
R9394:Iars1 UTSW 13 49,730,060 (GRCm38) missense probably benign
R9668:Iars1 UTSW 13 49,687,409 (GRCm38) missense probably damaging 0.98
R9741:Iars1 UTSW 13 49,691,502 (GRCm38) missense probably damaging 0.99
Z1088:Iars1 UTSW 13 49,721,088 (GRCm38) missense probably benign
Predicted Primers PCR Primer
(F):5'- AGCCTATGCCTGTCTGTGTATTGC -3'
(R):5'- AAGGAGGATGCTATACCCCTGCTAC -3'

Sequencing Primer
(F):5'- GCTATTCTCCTCTCTAAAGTGACTGG -3'
(R):5'- TGCAGCCTGAGGAGTAGC -3'
Posted On 2013-04-16