Incidental Mutation 'R8679:Iars1'
ID 679779
Institutional Source Beutler Lab
Gene Symbol Iars1
Ensembl Gene ENSMUSG00000037851
Gene Name isoleucyl-tRNA synthetase 1
Synonyms Iars, 2510016L12Rik, E430001P04Rik
MMRRC Submission 068534-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R8679 (G1)
Quality Score 225.009
Status Validated
Chromosome 13
Chromosomal Location 49835606-49887743 bp(+) (GRCm39)
Type of Mutation unclassified
DNA Base Change (assembly) C to A at 49856675 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000130204 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000047363] [ENSMUST00000164260] [ENSMUST00000165316] [ENSMUST00000171510]
AlphaFold Q8BU30
Predicted Effect silent
Transcript: ENSMUST00000047363
SMART Domains Protein: ENSMUSP00000048096
Gene: ENSMUSG00000037851

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 silent
Transcript: ENSMUST00000164260
SMART Domains Protein: ENSMUSP00000126806
Gene: ENSMUSG00000037851

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 silent
Transcript: ENSMUST00000165316
SMART Domains Protein: ENSMUSP00000132082
Gene: ENSMUSG00000037851

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: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.4%
Validation Efficiency 98% (91/93)
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: 91 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc5 T C 16: 20,152,479 (GRCm39) T1356A possibly damaging Het
Ace3 A G 11: 105,886,701 (GRCm39) T154A probably benign Het
Arhgap31 C A 16: 38,422,966 (GRCm39) Q1033H probably damaging Het
C1qtnf1 C T 11: 118,337,340 (GRCm39) R57* probably null Het
Cacna1g T C 11: 94,319,962 (GRCm39) T1405A probably damaging Het
Cacna1i A G 15: 80,260,011 (GRCm39) probably benign Het
Cdca4 T A 12: 112,785,734 (GRCm39) probably null Het
Cpa4 T A 6: 30,585,158 (GRCm39) M314K probably damaging Het
Cpn2 A T 16: 30,078,085 (GRCm39) S539T possibly damaging Het
Crebbp A G 16: 3,902,322 (GRCm39) S2306P probably damaging Het
Cspg4b A G 13: 113,488,163 (GRCm39) R9G Het
Dcaf5 T C 12: 80,385,807 (GRCm39) H773R probably benign Het
Dcun1d2 A T 8: 13,311,406 (GRCm39) D194E probably benign Het
Dnah1 G T 14: 30,989,767 (GRCm39) R3250S possibly damaging Het
Dnajc25 A C 4: 59,020,195 (GRCm39) K206T possibly damaging Het
Dnajc27 T C 12: 4,146,325 (GRCm39) L118P possibly damaging Het
Etl4 C T 2: 20,714,288 (GRCm39) T129I probably damaging Het
Faap100 A G 11: 120,263,003 (GRCm39) I785T probably damaging Het
Fam227b A T 2: 125,830,928 (GRCm39) D425E probably benign Het
Fat4 C G 3: 39,064,842 (GRCm39) L4933V probably damaging Het
Fbrsl1 A G 5: 110,526,086 (GRCm39) F39L probably damaging Het
Fezf1 A G 6: 23,247,769 (GRCm39) V102A probably benign Het
Gabra2 T C 5: 71,170,040 (GRCm39) probably benign Het
Garnl3 C A 2: 32,916,106 (GRCm39) R346L probably damaging Het
Grin2a A T 16: 9,403,089 (GRCm39) I799N possibly damaging Het
Hspa4 A G 11: 53,160,691 (GRCm39) F462L probably damaging Het
Igkv6-32 C T 6: 70,051,063 (GRCm39) V98M possibly damaging Het
Il31ra A G 13: 112,662,372 (GRCm39) F560S possibly damaging Het
Itpr3 G A 17: 27,337,651 (GRCm39) probably benign Het
Kif2a G A 13: 107,116,049 (GRCm39) T299I probably damaging Het
Leo1 T A 9: 75,373,544 (GRCm39) Y656* probably null Het
Lpcat2 T A 8: 93,635,864 (GRCm39) V422D probably damaging Het
Lrrcc1 T A 3: 14,601,084 (GRCm39) S39T probably benign Het
Macf1 A T 4: 123,405,869 (GRCm39) S341T probably benign Het
Mc2r T A 18: 68,540,879 (GRCm39) Y138F probably damaging Het
Mepe A G 5: 104,485,754 (GRCm39) N298S possibly damaging Het
Mmp15 C A 8: 96,092,982 (GRCm39) N120K possibly damaging Het
Mrps9 A G 1: 42,918,915 (GRCm39) R106G probably damaging Het
Muc16 T A 9: 18,557,744 (GRCm39) M2850L unknown Het
Mxra8 T A 4: 155,927,122 (GRCm39) I352N probably damaging Het
Myo16 G A 8: 10,411,042 (GRCm39) V167I unknown Het
Neb T C 2: 52,215,051 (GRCm39) D209G probably damaging Het
Nlgn2 A G 11: 69,716,309 (GRCm39) V744A probably benign Het
Notch2 A G 3: 98,029,218 (GRCm39) probably null Het
Nr1d1 G C 11: 98,660,073 (GRCm39) R484G probably damaging Het
Or14c42-ps1 A T 7: 86,211,147 (GRCm39) H69L unknown Het
Or5ak20 T C 2: 85,183,953 (GRCm39) T106A probably benign Het
Or5k16 G A 16: 58,736,843 (GRCm39) R54C probably benign Het
Or9k2b T C 10: 130,016,702 (GRCm39) I16V probably benign Het
Oxa1l A G 14: 54,605,248 (GRCm39) probably null Het
Piwil4 T C 9: 14,616,322 (GRCm39) D15G Het
Plcz1 C A 6: 139,949,612 (GRCm39) W461L probably damaging Het
Plek A T 11: 16,944,676 (GRCm39) I118N probably damaging Het
Poc1b C A 10: 99,000,728 (GRCm39) probably benign Het
Potefam1 A T 2: 111,059,567 (GRCm39) M64K possibly damaging Het
Ppp1r16b G A 2: 158,593,098 (GRCm39) D226N probably damaging Het
Prss36 T C 7: 127,532,635 (GRCm39) T739A possibly damaging Het
Psme2 A T 14: 55,827,074 (GRCm39) probably null Het
Ptprb T G 10: 116,203,495 (GRCm39) V1802G probably damaging Het
Rabep2 C A 7: 126,034,848 (GRCm39) Y84* probably null Het
Rbbp6 T G 7: 122,600,516 (GRCm39) S1508A unknown Het
Rel A T 11: 23,692,430 (GRCm39) D534E probably benign Het
Rpgrip1 G A 14: 52,396,852 (GRCm39) S1258N probably damaging Het
Rprml T C 11: 103,540,953 (GRCm39) L116P probably damaging Het
Rsph10b A G 5: 143,887,112 (GRCm39) T323A possibly damaging Het
Rtn4rl1 A G 11: 75,156,099 (GRCm39) H177R probably damaging Het
Sag A G 1: 87,738,032 (GRCm39) T24A probably benign Het
Scgb2b26 G T 7: 33,643,784 (GRCm39) T52N probably damaging Het
Scn10a T C 9: 119,501,194 (GRCm39) I197V probably damaging Het
Sec24c T A 14: 20,742,927 (GRCm39) V1003D possibly damaging Het
Sirt2 G A 7: 28,471,261 (GRCm39) G30E probably damaging Het
Slc13a5 T A 11: 72,149,919 (GRCm39) Q197L probably benign Het
Slc44a3 A T 3: 121,283,918 (GRCm39) S445T probably damaging Het
Slc7a7 A T 14: 54,610,449 (GRCm39) V399E probably benign Het
Smarcad1 T A 6: 65,088,865 (GRCm39) D1000E probably benign Het
Sorcs2 G T 5: 36,196,657 (GRCm39) Q663K probably benign Het
Stat4 A G 1: 52,118,991 (GRCm39) R345G probably null Het
Sycp2 G A 2: 177,992,768 (GRCm39) R1261C probably damaging Het
Tcf19 T C 17: 35,825,381 (GRCm39) I259V probably benign Het
Thada T A 17: 84,536,637 (GRCm39) R1636S probably benign Het
Tnrc6c T C 11: 117,604,961 (GRCm39) L32P probably benign Het
Tonsl G A 15: 76,517,076 (GRCm39) T881I probably benign Het
Tonsl A C 15: 76,518,263 (GRCm39) C570G probably damaging Het
Ube2o C A 11: 116,432,273 (GRCm39) E898* probably null Het
Usp5 T C 6: 124,794,394 (GRCm39) H762R possibly damaging Het
Vmn2r15 A G 5: 109,434,779 (GRCm39) S642P probably benign Het
Vmn2r23 T C 6: 123,690,431 (GRCm39) W436R probably damaging Het
Vps13d A C 4: 144,811,977 (GRCm39) I3343M Het
Wbp11 T C 6: 136,799,932 (GRCm39) K83E probably damaging Het
Zfp26 T A 9: 20,356,201 (GRCm39) N36Y possibly damaging Het
Zfp57 T A 17: 37,320,938 (GRCm39) I264N probably 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
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
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
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'- ACATGTGGGTGTGTCTACAG -3'
(R):5'- TTCCATTGGTCTTGGCAAGGC -3'

Sequencing Primer
(F):5'- TGTCTACAGGTGTGCACAC -3'
(R):5'- CAAAGAAGTTTAATGAGAGTCGTGAC -3'
Posted On 2021-08-11