Incidental Mutation 'R6675:Iars1'
ID 527260
Institutional Source Beutler Lab
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 # R6675 (G1)
Quality Score 225.009
Status Not validated
Chromosome 13
Chromosomal Location 49835606-49887743 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 49873054 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Aspartic acid at position 713 (A713D)
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: A713D

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000048096
Gene: ENSMUSG00000037851
AA Change: A713D

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: A713D

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000126806
Gene: ENSMUSG00000037851
AA Change: A713D

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 noncoding transcript
Transcript: ENSMUST00000165270
Predicted Effect probably damaging
Transcript: ENSMUST00000165316
AA Change: A713D

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000132082
Gene: ENSMUSG00000037851
AA Change: A713D

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
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.2%
  • 20x: 95.3%
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: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca9 T C 11: 110,006,302 (GRCm39) T1268A probably benign Het
Adamts20 A G 15: 94,229,197 (GRCm39) probably null Het
Arhgap45 G T 10: 79,853,938 (GRCm39) D151Y probably null Het
Arhgef40 C A 14: 52,229,098 (GRCm39) L592I probably damaging Het
Ascc3 G T 10: 50,626,659 (GRCm39) E1720* probably null Het
Atp2c1 C T 9: 105,330,732 (GRCm39) probably null Het
Avpi1 G A 19: 42,112,183 (GRCm39) P125L probably benign Het
Cers3 A T 7: 66,435,844 (GRCm39) T232S possibly damaging Het
Cfap53 T C 18: 74,440,447 (GRCm39) probably null Het
Col4a3 T C 1: 82,646,646 (GRCm39) S386P unknown Het
Dhtkd1 A T 2: 5,908,889 (GRCm39) M735K probably damaging Het
Dnah8 G A 17: 30,967,542 (GRCm39) D2585N probably benign Het
Gad2 T C 2: 22,563,997 (GRCm39) V400A possibly damaging Het
Gm10801 TC TCGCC 2: 98,494,151 (GRCm39) probably benign Het
Hmgxb3 T G 18: 61,270,648 (GRCm39) D892A possibly damaging Het
Hsd3b2 G A 3: 98,620,788 (GRCm39) T89I probably benign Het
Itih1 G A 14: 30,651,798 (GRCm39) T848I possibly damaging Het
Kcne2 A G 16: 92,093,512 (GRCm39) D13G probably benign Het
Klra17 T A 6: 129,849,286 (GRCm39) N96I probably damaging Het
Lrig2 T C 3: 104,365,251 (GRCm39) N634D probably benign Het
Mrc2 T A 11: 105,233,906 (GRCm39) probably null Het
Mroh3 A T 1: 136,118,550 (GRCm39) S558T possibly damaging Het
Ncapg2 G T 12: 116,398,281 (GRCm39) K627N possibly damaging Het
Ncstn A T 1: 171,899,095 (GRCm39) D345E probably damaging Het
Nkx1-1 G T 5: 33,591,223 (GRCm39) A33E unknown Het
Or2n1 T A 17: 38,486,905 (GRCm39) M310K probably benign Het
Or51f2 A G 7: 102,526,480 (GRCm39) E51G possibly damaging Het
Osbpl9 G T 4: 108,991,025 (GRCm39) probably null Het
P2rx6 T C 16: 17,380,032 (GRCm39) V52A probably benign Het
Pcdhgb5 C T 18: 37,864,255 (GRCm39) L17F probably damaging Het
Pdk2 T C 11: 94,919,568 (GRCm39) I273V probably benign Het
Pdpr C T 8: 111,828,532 (GRCm39) Q12* probably null Het
Plxdc2 A G 2: 16,716,932 (GRCm39) T339A probably benign Het
Pramel27 G A 4: 143,579,828 (GRCm39) C471Y probably damaging Het
Retsat T C 6: 72,578,672 (GRCm39) V128A probably benign Het
Rnf17 A G 14: 56,697,432 (GRCm39) E442G probably damaging Het
Sec31b T C 19: 44,512,214 (GRCm39) N560S probably benign Het
Slc22a16 C T 10: 40,449,836 (GRCm39) Q91* probably null Het
Slc24a5 G T 2: 124,922,615 (GRCm39) A126S possibly damaging Het
Slc26a4 A T 12: 31,590,512 (GRCm39) D380E possibly damaging Het
Stc2 T A 11: 31,310,307 (GRCm39) D243V probably benign Het
Tshz2 G T 2: 169,727,965 (GRCm39) A385S probably damaging Het
Vmn1r113 G A 7: 20,521,903 (GRCm39) G232S probably benign Het
Vmn1r77 A G 7: 11,775,382 (GRCm39) T53A probably damaging Het
Zeb2 A T 2: 44,887,457 (GRCm39) Y518* probably null Het
Zfp760 T A 17: 21,941,991 (GRCm39) S389T 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
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
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'- CCTAAACACCTTGGTTGCCG -3'
(R):5'- AATGCAATGGTGTTTCCCTTTG -3'

Sequencing Primer
(F):5'- TTGCCGTGCCATGGAGTC -3'
(R):5'- TGGCTGGCCTCAAACTTAGAGATC -3'
Posted On 2018-07-23