Incidental Mutation 'IGL03206:Iars1'
ID 413132
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Iars1
Ensembl Gene ENSMUSG00000037851
Gene Name isoleucyl-tRNA synthetase 1
Synonyms Iars, 2510016L12Rik, E430001P04Rik
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL03206
Quality Score
Status
Chromosome 13
Chromosomal Location 49835606-49887743 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 49846546 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 215 (D215G)
Ref Sequence ENSEMBL: ENSMUSP00000132082 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000047363] [ENSMUST00000164260] [ENSMUST00000165316] [ENSMUST00000172254]
AlphaFold Q8BU30
Predicted Effect possibly damaging
Transcript: ENSMUST00000047363
AA Change: D215G

PolyPhen 2 Score 0.810 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000048096
Gene: ENSMUSG00000037851
AA Change: D215G

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 possibly damaging
Transcript: ENSMUST00000164260
AA Change: D215G

PolyPhen 2 Score 0.810 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000126806
Gene: ENSMUSG00000037851
AA Change: D215G

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 possibly damaging
Transcript: ENSMUST00000165316
AA Change: D215G

PolyPhen 2 Score 0.810 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000132082
Gene: ENSMUSG00000037851
AA Change: D215G

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: ENSMUST00000172254
SMART Domains Protein: ENSMUSP00000130058
Gene: ENSMUSG00000037851

DomainStartEndE-ValueType
Pfam:tRNA-synt_1 17 92 5.9e-33 PFAM
Pfam:tRNA-synt_1g 46 92 4.2e-7 PFAM
Coding Region Coverage
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: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A2ml1 T A 6: 128,530,239 (GRCm39) E939D possibly damaging Het
Aloxe3 C A 11: 69,020,472 (GRCm39) A172D possibly damaging Het
Bscl2 G A 19: 8,820,453 (GRCm39) R158Q probably damaging Het
Cdon A G 9: 35,414,602 (GRCm39) D1159G probably benign Het
Cep164 A G 9: 45,714,023 (GRCm39) V203A probably benign Het
Chml T C 1: 175,515,303 (GRCm39) D206G probably benign Het
E2f6 T C 12: 16,872,090 (GRCm39) probably benign Het
Emilin3 T A 2: 160,752,719 (GRCm39) Y77F probably damaging Het
Fbxw15 A T 9: 109,394,430 (GRCm39) N128K possibly damaging Het
Gjd2 A G 2: 113,842,204 (GRCm39) L91P probably damaging Het
Gm12830 T A 4: 114,702,314 (GRCm39) probably benign Het
Gpr161 T A 1: 165,149,218 (GRCm39) L529Q probably damaging Het
Hoxd10 T A 2: 74,522,776 (GRCm39) Y151* probably null Het
Ift140 T C 17: 25,311,800 (GRCm39) V1241A probably damaging Het
Kdm5b A G 1: 134,555,055 (GRCm39) N1321S probably benign Het
Lrat T A 3: 82,810,656 (GRCm39) I122F probably damaging Het
Myl10 C T 5: 136,726,796 (GRCm39) Q106* probably null Het
Ncapd2 A T 6: 125,148,660 (GRCm39) Y1018N possibly damaging Het
Ndrg1 C T 15: 66,814,936 (GRCm39) W172* probably null Het
Nphs2 T C 1: 156,153,701 (GRCm39) M264T probably damaging Het
Nrxn3 A T 12: 89,227,278 (GRCm39) R677S possibly damaging Het
Nudt12 T C 17: 59,314,667 (GRCm39) T306A probably benign Het
Numb A G 12: 83,872,070 (GRCm39) probably benign Het
Or10h28 T A 17: 33,487,725 (GRCm39) I9K possibly damaging Het
Or2y1 A T 11: 49,385,536 (GRCm39) M59L probably benign Het
Or5p58 C T 7: 107,694,261 (GRCm39) C172Y probably damaging Het
Pbld2 T A 10: 62,883,261 (GRCm39) D94E probably benign Het
Pkd1l3 C A 8: 110,350,345 (GRCm39) Q397K probably benign Het
Ppp4r3a A T 12: 101,024,878 (GRCm39) L207H probably damaging Het
Ranbp2 T A 10: 58,301,369 (GRCm39) I674N probably damaging Het
Retnlg G T 16: 48,694,655 (GRCm39) C101F probably damaging Het
Rif1 T A 2: 51,993,634 (GRCm39) I849N probably damaging Het
Serpinb9d T C 13: 33,382,014 (GRCm39) I161T possibly damaging Het
Slc17a6 T C 7: 51,315,771 (GRCm39) probably benign Het
Smg8 A C 11: 86,976,814 (GRCm39) probably null Het
Spata31d1c C A 13: 65,183,407 (GRCm39) N316K probably benign Het
Tlr1 A G 5: 65,082,400 (GRCm39) S726P probably damaging Het
Trim69 A C 2: 122,003,636 (GRCm39) D195A probably benign Het
Ttc16 T G 2: 32,661,897 (GRCm39) probably null Het
Usp53 T A 3: 122,746,832 (GRCm39) M405L probably benign Het
Ywhag G A 5: 135,939,914 (GRCm39) R227* probably null Het
Zfp335 G T 2: 164,734,601 (GRCm39) probably benign Het
Zfp607a T C 7: 27,577,248 (GRCm39) I106T possibly damaging Het
Zfp959 T C 17: 56,204,613 (GRCm39) S214P possibly damaging Het
Zfyve9 T C 4: 108,546,406 (GRCm39) M868V possibly damaging 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
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
R4999:Iars1 UTSW 13 49,863,137 (GRCm39) missense probably damaging 1.00
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
Posted On 2016-08-02