Incidental Mutation 'R0711:Iars2'
ID 218642
Institutional Source Beutler Lab
Gene Symbol Iars2
Ensembl Gene ENSMUSG00000026618
Gene Name isoleucine-tRNA synthetase 2, mitochondrial
Synonyms 2010002H18Rik
MMRRC Submission 038894-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R0711 (G1)
Quality Score 30
Status Validated
Chromosome 1
Chromosomal Location 185018839-185061615 bp(-) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) A to T at 185054585 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000106603 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027921] [ENSMUST00000110974] [ENSMUST00000110975]
AlphaFold Q8BIJ6
Predicted Effect probably benign
Transcript: ENSMUST00000027921
SMART Domains Protein: ENSMUSP00000027921
Gene: ENSMUSG00000026618

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 benign
Transcript: ENSMUST00000110974
SMART Domains Protein: ENSMUSP00000106601
Gene: ENSMUSG00000026618

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 benign
Transcript: ENSMUST00000110975
SMART Domains Protein: ENSMUSP00000106603
Gene: ENSMUSG00000026618

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000153211
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.4%
  • 20x: 91.4%
Validation Efficiency 100% (91/91)
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: 68 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110002E22Rik T A 3: 137,773,986 (GRCm39) D1058E probably damaging Het
4933405L10Rik A T 8: 106,435,563 (GRCm39) probably null Het
Adamtsl3 T A 7: 82,114,907 (GRCm39) probably benign Het
Afdn C T 17: 14,072,698 (GRCm39) P874S probably damaging Het
Ankrd6 G A 4: 32,815,326 (GRCm39) A391V probably damaging Het
Arhgef28 T G 13: 98,067,762 (GRCm39) T1388P probably damaging Het
Asxl3 G T 18: 22,657,508 (GRCm39) M1839I probably benign Het
BC005537 T C 13: 24,989,923 (GRCm39) F129L probably damaging Het
Celf2 A G 2: 6,726,226 (GRCm39) probably null Het
Chid1 C T 7: 141,076,590 (GRCm39) V325I probably benign Het
Cnn3 T A 3: 121,243,633 (GRCm39) D31E probably benign Het
Col12a1 G A 9: 79,559,317 (GRCm39) P1857L probably damaging Het
Cpeb1 T A 7: 81,001,618 (GRCm39) R430W probably benign Het
Daw1 T C 1: 83,169,059 (GRCm39) probably benign Het
Dcaf13 A G 15: 39,001,484 (GRCm39) Y264C probably damaging Het
Dnah6 T C 6: 73,064,585 (GRCm39) I2666V probably damaging Het
Dnai2 A C 11: 114,645,158 (GRCm39) D531A probably benign Het
Dock10 A T 1: 80,501,692 (GRCm39) F1833I probably damaging Het
Efhd2 C T 4: 141,587,183 (GRCm39) A200T probably damaging Het
Epb41l5 T A 1: 119,551,641 (GRCm39) probably benign Het
Ermp1 A G 19: 29,608,788 (GRCm39) Y164H possibly damaging Het
Gkn2 T C 6: 87,350,401 (GRCm39) probably benign Het
Golgb1 A T 16: 36,739,152 (GRCm39) Q2497L probably damaging Het
Gzme A T 14: 56,355,196 (GRCm39) M245K probably damaging Het
Icosl T A 10: 77,909,775 (GRCm39) V240D probably damaging Het
Igsf3 T C 3: 101,334,709 (GRCm39) M262T probably benign Het
Ing3 G T 6: 21,971,236 (GRCm39) E336* probably null Het
Kat2a A T 11: 100,597,297 (GRCm39) V625E probably damaging Het
Ksr1 A G 11: 78,929,073 (GRCm39) probably benign Het
Lypd8 A T 11: 58,277,583 (GRCm39) M122L probably benign Het
Mdfi A T 17: 48,143,855 (GRCm39) probably benign Het
Med13 A G 11: 86,192,179 (GRCm39) probably benign Het
Msh6 C T 17: 88,294,112 (GRCm39) R956C probably damaging Het
Myo15b A G 11: 115,774,664 (GRCm39) E670G probably damaging Het
Myo1d A G 11: 80,375,158 (GRCm39) L972P probably damaging Het
Or4s2b A G 2: 88,509,018 (GRCm39) D266G probably damaging Het
Or51ai2 G A 7: 103,587,024 (GRCm39) A146T probably benign Het
Or7g12 T A 9: 18,899,447 (GRCm39) N54K probably benign Het
Pde8b C G 13: 95,244,325 (GRCm39) S143T possibly damaging Het
Pias4 G T 10: 80,993,364 (GRCm39) probably benign Het
Prkca A G 11: 107,872,480 (GRCm39) Y427H probably benign Het
Psg25 G A 7: 18,263,485 (GRCm39) Q113* probably null Het
Rab3gap2 T A 1: 184,982,123 (GRCm39) S392T probably damaging Het
Scrib A G 15: 75,938,756 (GRCm39) probably benign Het
Sdk2 A G 11: 113,793,970 (GRCm39) probably benign Het
Serpinb1c T A 13: 33,070,266 (GRCm39) probably benign Het
Serpinb9f T A 13: 33,511,904 (GRCm39) W136R probably damaging Het
Skic3 C T 13: 76,331,010 (GRCm39) P1480L probably damaging Het
Skint10 C A 4: 112,573,102 (GRCm39) probably benign Het
Slc25a13 T C 6: 6,117,128 (GRCm39) T196A probably damaging Het
Slc26a5 T C 5: 22,052,230 (GRCm39) H33R probably damaging Het
Slc27a6 T C 18: 58,731,829 (GRCm39) probably benign Het
Slitrk6 A T 14: 110,987,251 (GRCm39) Y819N probably damaging Het
Spata46 C T 1: 170,139,603 (GRCm39) Q201* probably null Het
Sptbn1 A T 11: 30,064,739 (GRCm39) V1920E probably damaging Het
Taf6l A G 19: 8,755,881 (GRCm39) F256L probably benign Het
Tmco3 T A 8: 13,342,039 (GRCm39) N104K probably damaging Het
Tmem200c A G 17: 69,149,249 (GRCm39) T611A probably damaging Het
Tmem202 T G 9: 59,432,655 (GRCm39) Y24S probably damaging Het
Tpp1 A G 7: 105,398,626 (GRCm39) L230P probably damaging Het
Trim56 C T 5: 137,141,846 (GRCm39) E557K probably benign Het
Trrap C T 5: 144,790,309 (GRCm39) L3590F probably damaging Het
Tulp4 A G 17: 6,189,387 (GRCm39) T70A possibly damaging Het
Vcp G C 4: 42,986,201 (GRCm39) A297G probably benign Het
Vwf T A 6: 125,603,234 (GRCm39) H861Q probably benign Het
Wdr64 T C 1: 175,599,751 (GRCm39) I536T probably benign Het
Zfp850 T C 7: 27,689,698 (GRCm39) N170S probably benign Het
Zfp87 G A 13: 74,524,544 (GRCm39) probably benign 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
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
R7690:Iars2 UTSW 1 185,053,194 (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'- AGGCCGCTTTTCAACAATTCAAAAGAC -3'
(R):5'- ACGTGCTCTGAACGTCACCTTC -3'

Sequencing Primer
(F):5'- gaagcagaggcaggcag -3'
(R):5'- TGAACGTCACCTTCAGGTATG -3'
Posted On 2014-08-18