Incidental Mutation 'IGL03002:Iars2'
ID 407410
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Iars2
Ensembl Gene ENSMUSG00000026618
Gene Name isoleucine-tRNA synthetase 2, mitochondrial
Synonyms 2010002H18Rik
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL03002
Quality Score
Status
Chromosome 1
Chromosomal Location 185018839-185061615 bp(-) (GRCm39)
Type of Mutation splice site (5 bp from exon)
DNA Base Change (assembly) C to T at 185055013 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 null
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 null
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 null
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
Coding Region Coverage
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. 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: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acadl T C 1: 66,876,128 (GRCm39) I398V probably benign Het
Adcy4 A T 14: 56,011,013 (GRCm39) C635S probably benign Het
Aoc1l3 A G 6: 48,964,052 (GRCm39) H20R probably benign Het
Asic4 C A 1: 75,427,967 (GRCm39) D164E possibly damaging Het
C8g T A 2: 25,388,823 (GRCm39) *203L probably null Het
Cad T C 5: 31,212,330 (GRCm39) V11A probably benign Het
Cckar T C 5: 53,860,247 (GRCm39) N194S probably damaging Het
Cdc123 T C 2: 5,803,166 (GRCm39) probably benign Het
Chrm5 T C 2: 112,310,706 (GRCm39) T137A probably damaging Het
Cyp1a1 A G 9: 57,609,724 (GRCm39) probably benign Het
Dapk3 G T 10: 81,026,437 (GRCm39) E187* probably null Het
Dmtf1 T C 5: 9,190,474 (GRCm39) E80G probably damaging Het
Dusp19 T A 2: 80,461,279 (GRCm39) N189K probably damaging Het
Gfral A G 9: 76,104,520 (GRCm39) V164A possibly damaging Het
Hk1 A T 10: 62,107,578 (GRCm39) V799E probably damaging Het
Jcad T A 18: 4,675,153 (GRCm39) Y972N probably benign Het
Lrp1 A T 10: 127,425,505 (GRCm39) D708E probably damaging Het
Mbtd1 T A 11: 93,815,316 (GRCm39) H301Q probably benign Het
Med12 A G X: 100,339,461 (GRCm39) T2004A probably benign Het
Mib1 T C 18: 10,798,356 (GRCm39) I739T possibly damaging Het
Mthfsd C T 8: 121,835,018 (GRCm39) probably benign Het
Mybpc3 T G 2: 90,954,234 (GRCm39) F369C probably damaging Het
Nfatc2 C T 2: 168,376,904 (GRCm39) V329M probably damaging Het
Ngef A T 1: 87,437,114 (GRCm39) probably null Het
Nlrp1b T C 11: 71,059,685 (GRCm39) E759G probably benign Het
Or10aa3 C A 1: 173,878,191 (GRCm39) T84N probably benign Het
Prdm4 T C 10: 85,729,016 (GRCm39) E790G probably benign Het
Psmd12 A G 11: 107,376,607 (GRCm39) D81G probably benign Het
Rnf144b A G 13: 47,396,359 (GRCm39) H232R probably damaging Het
Sec63 C T 10: 42,686,905 (GRCm39) T475M possibly damaging Het
Slc16a4 A T 3: 107,208,102 (GRCm39) N204I probably benign Het
Socs1 T C 16: 10,602,404 (GRCm39) N111S probably damaging Het
Srpra A G 9: 35,126,017 (GRCm39) N432D probably damaging Het
Srrm2 A G 17: 24,034,708 (GRCm39) probably benign Het
Tgoln1 A G 6: 72,593,055 (GRCm39) S142P possibly damaging Het
Trbv13-1 A G 6: 41,093,169 (GRCm39) N34S probably benign Het
Vmn2r26 T C 6: 124,016,754 (GRCm39) V406A possibly damaging Het
Vsig1 G T X: 139,827,088 (GRCm39) G79V probably damaging 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
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
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
Posted On 2016-08-02