Incidental Mutation 'R7690:Iars2'
ID 593312
Institutional Source Beutler Lab
Gene Symbol Iars2
Ensembl Gene ENSMUSG00000026618
Gene Name isoleucine-tRNA synthetase 2, mitochondrial
Synonyms 2010002H18Rik
MMRRC Submission 045754-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R7690 (G1)
Quality Score 225.009
Status Validated
Chromosome 1
Chromosomal Location 185018839-185061615 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 185053194 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Glutamine at position 359 (L359Q)
Ref Sequence ENSEMBL: ENSMUSP00000027921 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027921] [ENSMUST00000110974] [ENSMUST00000110975]
AlphaFold Q8BIJ6
Predicted Effect probably damaging
Transcript: ENSMUST00000027921
AA Change: L359Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000027921
Gene: ENSMUSG00000026618
AA Change: L359Q

DomainStartEndE-ValueType
low complexity region 7 25 N/A INTRINSIC
Pfam:tRNA-synt_1 87 712 3.6e-172 PFAM
Pfam:tRNA-synt_1g 112 268 7e-15 PFAM
Pfam:tRNA-synt_1_2 334 462 3.8e-7 PFAM
Pfam:Anticodon_1 756 920 1.3e-27 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000110974
AA Change: L359Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000106601
Gene: ENSMUSG00000026618
AA Change: L359Q

DomainStartEndE-ValueType
low complexity region 7 25 N/A INTRINSIC
Pfam:tRNA-synt_1 87 552 2e-130 PFAM
Pfam:tRNA-synt_1g 113 269 2.2e-17 PFAM
Pfam:tRNA-synt_1_2 293 462 9e-10 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000110975
AA Change: L359Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000106603
Gene: ENSMUSG00000026618
AA Change: L359Q

DomainStartEndE-ValueType
low complexity region 7 25 N/A INTRINSIC
Pfam:tRNA-synt_1 87 712 1.2e-171 PFAM
Pfam:tRNA-synt_1g 113 269 3.4e-17 PFAM
Pfam:tRNA-synt_1_2 293 462 1.4e-9 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.3%
Validation Efficiency 97% (57/59)
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. Two forms of isoleucine-tRNA synthetase exist, a cytoplasmic form and a mitochondrial form. This gene encodes the mitochondrial isoleucine-tRNA synthetase which belongs to the class-I aminoacyl-tRNA synthetase family. [provided by RefSeq, Dec 2014]
Allele List at MGI
Other mutations in this stock
Total: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca12 T A 1: 71,353,313 (GRCm39) T710S probably benign Het
Adgrl2 A G 3: 148,522,934 (GRCm39) L430P Het
Agap1 T C 1: 89,770,793 (GRCm39) S648P probably benign Het
Alox5 T C 6: 116,392,417 (GRCm39) H368R probably damaging Het
Ano2 T C 6: 125,990,161 (GRCm39) F761L probably damaging Het
Aox4 T C 1: 58,303,076 (GRCm39) V1169A probably damaging Het
Apbb1ip T A 2: 22,706,996 (GRCm39) M11K unknown Het
Arl5a G T 2: 52,302,077 (GRCm39) H112Q possibly damaging Het
Ccdc18 C T 5: 108,376,528 (GRCm39) T1323I probably benign Het
Cmtm5 G A 14: 55,173,938 (GRCm39) probably benign Het
Cul2 T C 18: 3,419,420 (GRCm39) Y194H probably benign Het
Daglb T C 5: 143,479,938 (GRCm39) I415T possibly damaging Het
Ddx28 A G 8: 106,736,963 (GRCm39) V365A probably damaging Het
Dnah6 T C 6: 73,146,063 (GRCm39) probably null Het
Eppk1 T A 15: 75,995,946 (GRCm39) T312S probably benign Het
Erich4 C A 7: 25,314,710 (GRCm39) V68L possibly damaging Het
Fam171a2 G A 11: 102,328,660 (GRCm39) P700S probably benign Het
Fat3 T C 9: 15,909,477 (GRCm39) N2175S probably damaging Het
Fcrl6 T G 1: 172,426,223 (GRCm39) R191S probably damaging Het
Fpgt A G 3: 154,793,467 (GRCm39) S187P probably damaging Het
Gapvd1 T G 2: 34,619,134 (GRCm39) T80P possibly damaging Het
Gclm A G 3: 122,039,705 (GRCm39) N24S probably damaging Het
Gdf15 A G 8: 71,083,997 (GRCm39) I89T possibly damaging Het
Gpn2 A G 4: 133,318,693 (GRCm39) E306G probably damaging Het
Kbtbd4 T G 2: 90,736,240 (GRCm39) C84G possibly damaging Het
Manea A G 4: 26,327,910 (GRCm39) V377A probably benign Het
Map4 C T 9: 109,828,861 (GRCm39) T82I probably damaging Het
Mocos C T 18: 24,797,082 (GRCm39) H81Y probably damaging Het
Mtx1 T A 3: 89,120,088 (GRCm39) T87S Het
Muc6 G C 7: 141,217,659 (GRCm39) P2338R probably damaging Het
Myom2 A T 8: 15,161,717 (GRCm39) probably null Het
Mzt1 C T 14: 99,278,024 (GRCm39) C48Y probably damaging Het
Nlrp9b C A 7: 19,758,295 (GRCm39) P511T probably benign Het
Noc2l A G 4: 156,322,088 (GRCm39) E135G probably benign Het
Nova1 G A 12: 46,767,549 (GRCm39) P124L unknown Het
Pax8 T A 2: 24,331,682 (GRCm39) T134S probably benign Het
Pde4a T A 9: 21,077,300 (GRCm39) L26Q probably damaging Het
Pde6b G A 5: 108,567,384 (GRCm39) E254K probably damaging Het
Pdlim7 A G 13: 55,656,744 (GRCm39) I70T probably damaging Het
Pinx1 T A 14: 64,101,660 (GRCm39) probably null Het
Pomt2 C A 12: 87,177,141 (GRCm39) R352L probably damaging Het
Rapgef5 G A 12: 117,685,105 (GRCm39) V519I possibly damaging Het
Rnps1 A G 17: 24,637,168 (GRCm39) E16G unknown Het
Slc4a5 T C 6: 83,262,854 (GRCm39) F782S probably damaging Het
Snap91 A G 9: 86,707,031 (GRCm39) V253A possibly damaging Het
Syce3 T C 15: 89,281,544 (GRCm39) M32V possibly damaging Het
Tcaf3 C A 6: 42,574,069 (GRCm39) V48L probably damaging Het
Tenm4 T C 7: 96,512,740 (GRCm39) V1366A probably benign Het
Tnxb G A 17: 34,908,494 (GRCm39) M1382I probably benign Het
Tnxb G A 17: 34,908,501 (GRCm39) G1385R probably damaging Het
Top3a G T 11: 60,647,206 (GRCm39) L238I probably damaging Het
Trim9 A T 12: 70,295,117 (GRCm39) N742K probably benign Het
Trp63 T A 16: 25,695,483 (GRCm39) Y482N unknown Het
Ttc23 T G 7: 67,319,918 (GRCm39) F192V possibly damaging Het
Uck1 A G 2: 32,148,184 (GRCm39) V180A probably benign Het
Vwa5b1 G A 4: 138,318,244 (GRCm39) T541I probably damaging Het
Zfp456 G T 13: 67,514,913 (GRCm39) H264Q probably damaging Het
Zfpm2 T G 15: 40,818,162 (GRCm39) V165G possibly damaging Het
Zup1 C T 10: 33,806,151 (GRCm39) probably null Het
Other mutations in Iars2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00596:Iars2 APN 1 185,048,151 (GRCm39) missense probably benign 0.00
IGL00906:Iars2 APN 1 185,028,600 (GRCm39) splice site probably benign
IGL01287:Iars2 APN 1 185,028,625 (GRCm39) missense possibly damaging 0.90
IGL01814:Iars2 APN 1 185,034,972 (GRCm39) nonsense probably null
IGL02016:Iars2 APN 1 185,035,503 (GRCm39) missense probably damaging 0.99
IGL02995:Iars2 APN 1 185,035,498 (GRCm39) missense probably benign
IGL03002:Iars2 APN 1 185,055,013 (GRCm39) splice site probably null
IGL03248:Iars2 APN 1 185,023,629 (GRCm39) unclassified probably benign
R0304:Iars2 UTSW 1 185,019,353 (GRCm39) missense possibly damaging 0.77
R0711:Iars2 UTSW 1 185,054,585 (GRCm39) splice site probably benign
R0783:Iars2 UTSW 1 185,053,071 (GRCm39) missense probably damaging 1.00
R0990:Iars2 UTSW 1 185,050,824 (GRCm39) missense probably damaging 1.00
R1867:Iars2 UTSW 1 185,050,765 (GRCm39) missense probably benign 0.01
R1868:Iars2 UTSW 1 185,050,765 (GRCm39) missense probably benign 0.01
R1957:Iars2 UTSW 1 185,027,868 (GRCm39) missense possibly damaging 0.89
R2378:Iars2 UTSW 1 185,059,918 (GRCm39) missense probably damaging 1.00
R3784:Iars2 UTSW 1 185,019,328 (GRCm39) missense probably benign 0.17
R4061:Iars2 UTSW 1 185,035,583 (GRCm39) missense possibly damaging 0.85
R4334:Iars2 UTSW 1 185,035,591 (GRCm39) missense probably benign 0.35
R4708:Iars2 UTSW 1 185,021,554 (GRCm39) missense probably benign 0.00
R4723:Iars2 UTSW 1 185,048,176 (GRCm39) missense probably damaging 1.00
R4729:Iars2 UTSW 1 185,048,248 (GRCm39) missense possibly damaging 0.71
R4851:Iars2 UTSW 1 185,059,845 (GRCm39) missense probably damaging 0.99
R5033:Iars2 UTSW 1 185,050,125 (GRCm39) missense possibly damaging 0.65
R5215:Iars2 UTSW 1 185,026,966 (GRCm39) missense probably damaging 1.00
R5260:Iars2 UTSW 1 185,055,931 (GRCm39) missense probably damaging 1.00
R5286:Iars2 UTSW 1 185,055,318 (GRCm39) intron probably benign
R5614:Iars2 UTSW 1 185,021,705 (GRCm39) missense probably benign 0.00
R6659:Iars2 UTSW 1 185,020,273 (GRCm39) missense possibly damaging 0.76
R6838:Iars2 UTSW 1 185,061,342 (GRCm39) missense probably damaging 0.98
R7057:Iars2 UTSW 1 185,021,564 (GRCm39) missense probably benign 0.03
R7462:Iars2 UTSW 1 185,055,063 (GRCm39) missense probably damaging 1.00
R8021:Iars2 UTSW 1 185,054,654 (GRCm39) missense probably benign 0.05
R8097:Iars2 UTSW 1 185,061,586 (GRCm39) unclassified probably benign
R8198:Iars2 UTSW 1 185,029,703 (GRCm39) missense probably benign 0.19
R8283:Iars2 UTSW 1 185,020,288 (GRCm39) nonsense probably null
R8543:Iars2 UTSW 1 185,019,341 (GRCm39) missense probably benign 0.00
R8710:Iars2 UTSW 1 185,027,783 (GRCm39) missense probably benign 0.13
R8713:Iars2 UTSW 1 185,023,615 (GRCm39) missense possibly damaging 0.58
R8856:Iars2 UTSW 1 185,028,621 (GRCm39) missense probably benign 0.10
R9206:Iars2 UTSW 1 185,050,146 (GRCm39) missense possibly damaging 0.83
R9304:Iars2 UTSW 1 185,055,400 (GRCm39) nonsense probably null
R9435:Iars2 UTSW 1 185,034,913 (GRCm39) missense probably damaging 1.00
R9634:Iars2 UTSW 1 185,027,727 (GRCm39) makesense probably null
Z1177:Iars2 UTSW 1 185,048,092 (GRCm39) nonsense probably null
Predicted Primers PCR Primer
(F):5'- CCAAGACACAAAGATGTTAGTTAGG -3'
(R):5'- GACTTAGACTGCCAAGCTTAAGAAG -3'

Sequencing Primer
(F):5'- GAGCAATTATTTTCATTCTGCAAGGC -3'
(R):5'- TGCCAAGCTTAAGAAGGTAGAACTAC -3'
Posted On 2019-11-12