Incidental Mutation 'R6957:Iars1'
ID 541533
Institutional Source Beutler Lab
Gene Symbol Iars1
Ensembl Gene ENSMUSG00000037851
Gene Name isoleucyl-tRNA synthetase 1
Synonyms Iars, 2510016L12Rik, E430001P04Rik
MMRRC Submission 045068-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R6957 (G1)
Quality Score 225.009
Status Not validated
Chromosome 13
Chromosomal Location 49835606-49887743 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 49875637 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Valine at position 775 (F775V)
Ref Sequence ENSEMBL: ENSMUSP00000132082 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000047363] [ENSMUST00000164260] [ENSMUST00000165316]
AlphaFold Q8BU30
Predicted Effect probably damaging
Transcript: ENSMUST00000047363
AA Change: F775V

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000048096
Gene: ENSMUSG00000037851
AA Change: F775V

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 damaging
Transcript: ENSMUST00000164260
AA Change: F775V

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000126806
Gene: ENSMUSG00000037851
AA Change: F775V

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 damaging
Transcript: ENSMUST00000165316
AA Change: F775V

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000132082
Gene: ENSMUSG00000037851
AA Change: F775V

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.4%
  • 20x: 98.0%
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: 77 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310009B15Rik A G 1: 138,779,857 (GRCm39) S132P probably damaging Het
Abcb5 A G 12: 118,871,270 (GRCm39) F710L probably damaging Het
Acsm4 T G 7: 119,310,622 (GRCm39) V503G probably damaging Het
Adam26a T A 8: 44,021,940 (GRCm39) M517L probably benign Het
Adcy10 C A 1: 165,391,854 (GRCm39) L1345I probably damaging Het
Adgrv1 T C 13: 81,715,609 (GRCm39) I860V probably benign Het
Alcam T C 16: 52,097,257 (GRCm39) D333G probably damaging Het
Amt C A 9: 108,177,032 (GRCm39) F213L possibly damaging Het
Ascc3 A G 10: 50,604,278 (GRCm39) T1333A probably damaging Het
Asxl3 C A 18: 22,655,148 (GRCm39) L1053I probably damaging Het
Atxn10 T C 15: 85,220,699 (GRCm39) S12P probably damaging Het
AU021092 T C 16: 5,030,017 (GRCm39) I333V probably benign Het
Birc6 A G 17: 74,886,486 (GRCm39) I577V probably benign Het
Cadm2 A T 16: 66,609,726 (GRCm39) F132I probably benign Het
Casp3 T A 8: 47,087,308 (GRCm39) V85D probably damaging Het
Ccdc168 C T 1: 44,096,367 (GRCm39) C1577Y probably benign Het
Ccdc85a A T 11: 28,342,944 (GRCm39) probably benign Het
Cd22 T C 7: 30,566,999 (GRCm39) R760G possibly damaging Het
Cela3a A T 4: 137,135,441 (GRCm39) W41R probably damaging Het
Cep164 A G 9: 45,683,578 (GRCm39) probably null Het
Cntnap5b A G 1: 100,202,197 (GRCm39) E348G probably benign Het
Ddx20 C A 3: 105,591,626 (GRCm39) K181N probably benign Het
Dnah14 G C 1: 181,612,740 (GRCm39) A3846P possibly damaging Het
Ern1 A C 11: 106,294,365 (GRCm39) I813S probably damaging Het
Fam181a G A 12: 103,282,773 (GRCm39) G226D probably damaging Het
Fam186a T A 15: 99,844,357 (GRCm39) D629V unknown Het
Gipr T A 7: 18,898,529 (GRCm39) T26S probably benign Het
Gm3159 A G 14: 4,398,530 (GRCm38) R74G possibly damaging Het
Greb1l G A 18: 10,558,786 (GRCm39) V1814I probably benign Het
Hacd1 A T 2: 14,049,664 (GRCm39) V98E probably damaging Het
Il12rb2 G A 6: 67,269,636 (GRCm39) L726F possibly damaging Het
Itih4 T C 14: 30,614,560 (GRCm39) V474A probably damaging Het
Kmt2a A C 9: 44,731,319 (GRCm39) probably benign Het
Ktn1 T A 14: 47,904,810 (GRCm39) L196* probably null Het
Lipo4 A G 19: 33,476,767 (GRCm39) V327A probably benign Het
Lratd2 T C 15: 60,694,934 (GRCm39) T271A probably benign Het
Lrit1 G C 14: 36,782,052 (GRCm39) V242L probably damaging Het
Lrp4 C A 2: 91,317,387 (GRCm39) T837K probably damaging Het
Mad1l1 G T 5: 140,051,572 (GRCm39) F664L probably damaging Het
Mecr A G 4: 131,589,172 (GRCm39) T247A probably benign Het
Msi1 G A 5: 115,583,483 (GRCm39) A228T probably benign Het
Mup5 T A 4: 61,751,273 (GRCm39) N125I probably damaging Het
Mybl2 C T 2: 162,914,728 (GRCm39) S282F possibly damaging Het
Myom2 G A 8: 15,167,741 (GRCm39) A1109T probably null Het
Nalcn T C 14: 123,744,966 (GRCm39) D354G probably damaging Het
Nckap1l T C 15: 103,399,938 (GRCm39) V1040A possibly damaging Het
Nlrp12 T A 7: 3,271,160 (GRCm39) D1051V probably damaging Het
Nudt7 A G 8: 114,860,385 (GRCm39) K16R probably benign Het
Or4b1 G T 2: 89,979,494 (GRCm39) Y285* probably null Het
Or8g29-ps1 A G 9: 39,200,577 (GRCm39) V203A unknown Het
Paqr3 A T 5: 97,256,110 (GRCm39) I88K possibly damaging Het
Parp9 A G 16: 35,768,716 (GRCm39) M299V probably benign Het
Pde4dip A T 3: 97,731,649 (GRCm39) probably null Het
Pex13 T G 11: 23,605,628 (GRCm39) M201L probably benign Het
Pfas C A 11: 68,884,709 (GRCm39) V498L probably benign Het
Phka2 G A X: 159,316,044 (GRCm39) V230I probably damaging Het
Plec T A 15: 76,070,414 (GRCm39) D932V probably damaging Het
Qng1 C A 13: 58,529,775 (GRCm39) C279F probably damaging Het
Qsox2 C T 2: 26,107,654 (GRCm39) A445T probably benign Het
Rapgef1 C A 2: 29,623,710 (GRCm39) Q820K possibly damaging Het
Samd13 A G 3: 146,368,424 (GRCm39) probably null Het
Samm50 G T 15: 84,082,850 (GRCm39) D104Y probably damaging Het
Sbk3 A T 7: 4,970,522 (GRCm39) F282L probably benign Het
Sfmbt1 C T 14: 30,509,546 (GRCm39) H342Y probably benign Het
Sgo2b CCATCATCATCATCATCATCAT CCATCATCATCATCATCAT 8: 64,384,489 (GRCm39) probably benign Het
Slc12a2 T A 18: 58,043,344 (GRCm39) L596* probably null Het
Spata31h1 A T 10: 82,129,620 (GRCm39) I1130K probably benign Het
St8sia3 T C 18: 64,404,853 (GRCm39) S377P probably benign Het
Stmnd1 T G 13: 46,427,375 (GRCm39) S28A probably benign Het
Syne3 A T 12: 104,920,561 (GRCm39) L458Q probably damaging Het
Synm C T 7: 67,385,848 (GRCm39) V163I probably benign Het
Tbc1d23 A G 16: 57,028,686 (GRCm39) C161R probably damaging Het
Tnfrsf4 G A 4: 156,100,625 (GRCm39) V215I probably benign Het
Vars2 T G 17: 35,977,967 (GRCm39) K67Q probably benign Het
Vmn2r13 A T 5: 109,304,753 (GRCm39) Y559* probably null Het
Wdpcp T C 11: 21,671,154 (GRCm39) I465T possibly damaging Het
Zwilch A C 9: 64,069,844 (GRCm39) 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
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
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'- CAGAGATATTTTGAGTCCTGTGAGG -3'
(R):5'- CTTGGGACCCTATGTGGACTTC -3'

Sequencing Primer
(F):5'- GTGAGGTAGCTCTACTATTACACC -3'
(R):5'- ATGTGGACTTCCCTTTCCTGTGG -3'
Posted On 2018-11-28