Incidental Mutation 'R4723:Iars2'
ID 354577
Institutional Source Beutler Lab
Gene Symbol Iars2
Ensembl Gene ENSMUSG00000026618
Gene Name isoleucine-tRNA synthetase 2, mitochondrial
Synonyms 2010002H18Rik
MMRRC Submission 041959-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R4723 (G1)
Quality Score 225
Status Validated
Chromosome 1
Chromosomal Location 185284726-185329396 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to G at 185315979 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Histidine at position 519 (Y519H)
Ref Sequence ENSEMBL: ENSMUSP00000106603 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027921] [ENSMUST00000110974] [ENSMUST00000110975]
AlphaFold Q8BIJ6
Predicted Effect probably damaging
Transcript: ENSMUST00000027921
AA Change: Y519H

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000027921
Gene: ENSMUSG00000026618
AA Change: Y519H

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 noncoding transcript
Transcript: ENSMUST00000083628
Predicted Effect noncoding transcript
Transcript: ENSMUST00000083647
Predicted Effect possibly damaging
Transcript: ENSMUST00000110974
AA Change: Y519H

PolyPhen 2 Score 0.758 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000106601
Gene: ENSMUSG00000026618
AA Change: Y519H

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: Y519H

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000106603
Gene: ENSMUSG00000026618
AA Change: Y519H

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: ENSMUST00000192375
Meta Mutation Damage Score 0.3993 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.6%
  • 20x: 93.3%
Validation Efficiency 94% (77/82)
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: 74 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrv1 T C 13: 81,433,525 (GRCm38) D4800G probably benign Het
Akna T C 4: 63,387,032 (GRCm38) D499G probably benign Het
Arid1b A C 17: 5,337,290 (GRCm38) I1673L probably benign Het
Bcr T A 10: 75,175,329 (GRCm38) M24K probably benign Het
Bsn A G 9: 108,112,655 (GRCm38) V1966A probably benign Het
Ccdc39 T C 3: 33,813,078 (GRCm38) N928S possibly damaging Het
Cd109 CATTTATTTATTTATTTATTTATTTATTTATTTAT CATTTATTTATTTATTTATTTATTTATTTATTTATTTAT 9: 78,712,500 (GRCm38) probably benign Het
Cdc6 G A 11: 98,908,831 (GRCm38) probably null Het
Cfap97d2 A T 8: 13,735,937 (GRCm38) N69I probably damaging Het
Cmtm1 C T 8: 104,293,675 (GRCm38) A371T probably damaging Het
Cmtm7 A C 9: 114,763,391 (GRCm38) V46G possibly damaging Het
Cmtr1 A G 17: 29,687,157 (GRCm38) probably null Het
Col5a3 T C 9: 20,809,591 (GRCm38) H149R unknown Het
Coro7 T G 16: 4,631,994 (GRCm38) Q634P probably benign Het
Crym A G 7: 120,201,075 (GRCm38) probably null Het
Csmd3 A T 15: 47,669,160 (GRCm38) F2546L probably benign Het
Dmap1 T C 4: 117,676,039 (GRCm38) T273A probably benign Het
Dnah1 T C 14: 31,272,942 (GRCm38) Y2786C probably damaging Het
Echs1 A C 7: 140,110,648 (GRCm38) probably benign Het
Edem3 T A 1: 151,804,698 (GRCm38) F525I possibly damaging Het
Exosc3 T C 4: 45,319,642 (GRCm38) I127V probably benign Het
Fam193a A G 5: 34,420,786 (GRCm38) D208G probably benign Het
Farp2 T C 1: 93,580,899 (GRCm38) V773A probably benign Het
Gas6 A G 8: 13,466,848 (GRCm38) V550A probably damaging Het
Gkn3 C T 6: 87,383,525 (GRCm38) A163T probably damaging Het
Gm2423 A G 13: 13,232,376 (GRCm38) noncoding transcript Het
Grin1 T C 2: 25,294,470 (GRCm38) S911G probably benign Het
Hkdc1 T C 10: 62,400,354 (GRCm38) I470V probably benign Het
Hsdl2 T A 4: 59,593,270 (GRCm38) probably benign Het
Ikbkb A T 8: 22,669,607 (GRCm38) M455K probably benign Het
Keap1 G T 9: 21,231,410 (GRCm38) H516Q probably benign Het
Klk1b27 A T 7: 44,056,532 (GRCm38) I220F probably damaging Het
Knop1 G A 7: 118,855,864 (GRCm38) probably benign Het
Lhcgr T C 17: 88,742,602 (GRCm38) T499A probably benign Het
Lrch3 A T 16: 32,988,484 (GRCm38) probably null Het
Lrrc2 G A 9: 110,970,160 (GRCm38) probably null Het
Lrrk2 T C 15: 91,764,759 (GRCm38) L1652P probably damaging Het
Mbl1 T C 14: 41,154,558 (GRCm38) V71A possibly damaging Het
Med8 T A 4: 118,411,801 (GRCm38) M1K probably null Het
Mfsd2b A G 12: 4,868,992 (GRCm38) L88P probably benign Het
Mkrn2 T A 6: 115,611,850 (GRCm38) C185S probably damaging Het
Myo1d A G 11: 80,779,841 (GRCm38) probably benign Het
Napg T G 18: 62,992,492 (GRCm38) probably null Het
Ncor1 A G 11: 62,378,612 (GRCm38) M253T probably benign Het
Oas3 T C 5: 120,766,256 (GRCm38) T518A unknown Het
Obox3-ps8 A G 17: 36,453,144 (GRCm38) noncoding transcript Het
Opn5 A T 17: 42,607,200 (GRCm38) M57K probably damaging Het
Or10a3n A T 7: 108,893,821 (GRCm38) F195L probably benign Het
Or13j1 T C 4: 43,705,785 (GRCm38) K261R probably damaging Het
Or52p1 T C 7: 104,618,489 (GRCm38) V270A possibly damaging Het
Pde2a C G 7: 101,494,618 (GRCm38) P148R possibly damaging Het
Prss56 C T 1: 87,185,337 (GRCm38) L158F possibly damaging Het
Psmg3 G A 5: 139,826,370 (GRCm38) probably benign Het
Rnase9 C T 14: 51,039,444 (GRCm38) G26R probably damaging Het
Skint4 T C 4: 112,118,236 (GRCm38) V131A possibly damaging Het
Slc10a4 T A 5: 73,012,055 (GRCm38) V341E probably damaging Het
Slc16a14 T C 1: 84,913,020 (GRCm38) Y188C probably damaging Het
Slc7a1 G T 5: 148,335,440 (GRCm38) P476T probably damaging Het
Smchd1 A T 17: 71,436,747 (GRCm38) C474* probably null Het
Smurf1 A T 5: 144,893,184 (GRCm38) D336E probably damaging Het
Sox30 G A 11: 45,984,765 (GRCm38) S448N probably benign Het
Spag11a G A 8: 19,159,382 (GRCm38) V63I possibly damaging Het
Sprr1b T G 3: 92,437,293 (GRCm38) K92T probably damaging Het
Stam2 T C 2: 52,720,950 (GRCm38) Y20C probably benign Het
Sult2b1 T A 7: 45,742,065 (GRCm38) Y97F probably damaging Het
Tecpr2 C T 12: 110,932,976 (GRCm38) P593S probably benign Het
Tek T C 4: 94,799,160 (GRCm38) V170A possibly damaging Het
Tiam2 A G 17: 3,450,317 (GRCm38) Y891C probably benign Het
Tmem220 A G 11: 67,029,993 (GRCm38) T75A possibly damaging Het
Traf3 T G 12: 111,262,036 (GRCm38) D560E probably damaging Het
Txlnb A G 10: 17,799,267 (GRCm38) H56R probably benign Het
Vmn2r98 A T 17: 19,066,340 (GRCm38) N367Y probably benign Het
Vnn3 A G 10: 23,851,691 (GRCm38) I36M possibly damaging Het
Zbtb7a G A 10: 81,144,440 (GRCm38) R156H probably damaging Het
Other mutations in Iars2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00596:Iars2 APN 1 185,315,954 (GRCm38) missense probably benign 0.00
IGL00906:Iars2 APN 1 185,296,403 (GRCm38) splice site probably benign
IGL01287:Iars2 APN 1 185,296,428 (GRCm38) missense possibly damaging 0.90
IGL01814:Iars2 APN 1 185,302,775 (GRCm38) nonsense probably null
IGL02016:Iars2 APN 1 185,303,306 (GRCm38) missense probably damaging 0.99
IGL02995:Iars2 APN 1 185,303,301 (GRCm38) missense probably benign
IGL03002:Iars2 APN 1 185,322,816 (GRCm38) splice site probably null
IGL03248:Iars2 APN 1 185,291,432 (GRCm38) unclassified probably benign
R0304:Iars2 UTSW 1 185,287,156 (GRCm38) missense possibly damaging 0.77
R0711:Iars2 UTSW 1 185,322,388 (GRCm38) splice site probably benign
R0783:Iars2 UTSW 1 185,320,874 (GRCm38) missense probably damaging 1.00
R0990:Iars2 UTSW 1 185,318,627 (GRCm38) missense probably damaging 1.00
R1867:Iars2 UTSW 1 185,318,568 (GRCm38) missense probably benign 0.01
R1868:Iars2 UTSW 1 185,318,568 (GRCm38) missense probably benign 0.01
R1957:Iars2 UTSW 1 185,295,671 (GRCm38) missense possibly damaging 0.89
R2378:Iars2 UTSW 1 185,327,721 (GRCm38) missense probably damaging 1.00
R3784:Iars2 UTSW 1 185,287,131 (GRCm38) missense probably benign 0.17
R4061:Iars2 UTSW 1 185,303,386 (GRCm38) missense possibly damaging 0.85
R4334:Iars2 UTSW 1 185,303,394 (GRCm38) missense probably benign 0.35
R4708:Iars2 UTSW 1 185,289,357 (GRCm38) missense probably benign 0.00
R4729:Iars2 UTSW 1 185,316,051 (GRCm38) missense possibly damaging 0.71
R4851:Iars2 UTSW 1 185,327,648 (GRCm38) missense probably damaging 0.99
R5033:Iars2 UTSW 1 185,317,928 (GRCm38) missense possibly damaging 0.65
R5215:Iars2 UTSW 1 185,294,769 (GRCm38) missense probably damaging 1.00
R5260:Iars2 UTSW 1 185,323,734 (GRCm38) missense probably damaging 1.00
R5286:Iars2 UTSW 1 185,323,121 (GRCm38) intron probably benign
R5614:Iars2 UTSW 1 185,289,508 (GRCm38) missense probably benign 0.00
R6659:Iars2 UTSW 1 185,288,076 (GRCm38) missense possibly damaging 0.76
R6838:Iars2 UTSW 1 185,329,145 (GRCm38) missense probably damaging 0.98
R7057:Iars2 UTSW 1 185,289,367 (GRCm38) missense probably benign 0.03
R7462:Iars2 UTSW 1 185,322,866 (GRCm38) missense probably damaging 1.00
R7690:Iars2 UTSW 1 185,320,997 (GRCm38) missense probably damaging 1.00
R8021:Iars2 UTSW 1 185,322,457 (GRCm38) missense probably benign 0.05
R8097:Iars2 UTSW 1 185,329,389 (GRCm38) unclassified probably benign
R8198:Iars2 UTSW 1 185,297,506 (GRCm38) missense probably benign 0.19
R8283:Iars2 UTSW 1 185,288,091 (GRCm38) nonsense probably null
R8543:Iars2 UTSW 1 185,287,144 (GRCm38) missense probably benign 0.00
R8710:Iars2 UTSW 1 185,295,586 (GRCm38) missense probably benign 0.13
R8713:Iars2 UTSW 1 185,291,418 (GRCm38) missense possibly damaging 0.58
R8856:Iars2 UTSW 1 185,296,424 (GRCm38) missense probably benign 0.10
R9206:Iars2 UTSW 1 185,317,949 (GRCm38) missense possibly damaging 0.83
R9304:Iars2 UTSW 1 185,323,203 (GRCm38) nonsense probably null
R9435:Iars2 UTSW 1 185,302,716 (GRCm38) missense probably damaging 1.00
R9634:Iars2 UTSW 1 185,295,530 (GRCm38) makesense probably null
Z1177:Iars2 UTSW 1 185,315,895 (GRCm38) nonsense probably null
Predicted Primers PCR Primer
(F):5'- CAGCCTGGACTTCATCATGAAAG -3'
(R):5'- TGGTCAGACACTCAGAACGG -3'

Sequencing Primer
(F):5'- TGGACTTCATCATGAAAGGCCATC -3'
(R):5'- GTCAGACACTCAGAACGGAGAAC -3'
Posted On 2015-10-21