Incidental Mutation 'R8856:Iars2'
ID 675295
Institutional Source Beutler Lab
Gene Symbol Iars2
Ensembl Gene ENSMUSG00000026618
Gene Name isoleucine-tRNA synthetase 2, mitochondrial
Synonyms 2010002H18Rik
MMRRC Submission 068737-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R8856 (G1)
Quality Score 225.009
Status Not validated
Chromosome 1
Chromosomal Location 185018839-185061615 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 185028621 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 679 (I679T)
Ref Sequence ENSEMBL: ENSMUSP00000027921 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027921] [ENSMUST00000110975]
AlphaFold Q8BIJ6
Predicted Effect probably benign
Transcript: ENSMUST00000027921
AA Change: I679T

PolyPhen 2 Score 0.103 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000027921
Gene: ENSMUSG00000026618
AA Change: I679T

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: ENSMUST00000110975
AA Change: I679T

PolyPhen 2 Score 0.087 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000106603
Gene: ENSMUSG00000026618
AA Change: I679T

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: 99.9%
  • 10x: 99.7%
  • 20x: 98.9%
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: 92 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A2m G A 6: 121,618,349 (GRCm39) R214H probably benign Het
Abca4 A G 3: 121,906,096 (GRCm39) S822G probably benign Het
Adgrv1 T A 13: 81,707,621 (GRCm39) I1262F probably benign Het
Agbl2 A G 2: 90,632,088 (GRCm39) D482G probably damaging Het
Asph T A 4: 9,630,947 (GRCm39) T134S possibly damaging Het
Cacna1a C T 8: 85,286,070 (GRCm39) A905V probably benign Het
Cacna1b C T 2: 24,569,530 (GRCm39) R798H probably benign Het
Cpne8 G T 15: 90,486,044 (GRCm39) Q140K probably benign Het
Crocc2 A T 1: 93,120,847 (GRCm39) N538I probably benign Het
Cyp2j9 T A 4: 96,462,184 (GRCm39) I366F probably damaging Het
Dchs1 A T 7: 105,410,064 (GRCm39) D1769E probably damaging Het
Def6 A T 17: 28,435,972 (GRCm39) I44F probably damaging Het
Dnah7a G A 1: 53,462,422 (GRCm39) T3723M probably damaging Het
Ecd T A 14: 20,387,140 (GRCm39) Y198F probably damaging Het
Ecel1 A C 1: 87,079,760 (GRCm39) M451R probably damaging Het
Eea1 A G 10: 95,831,506 (GRCm39) D199G probably benign Het
Efna5 A T 17: 62,914,374 (GRCm39) I217N unknown Het
F13a1 A T 13: 37,100,859 (GRCm39) D428E probably damaging Het
Fads1 T G 19: 10,170,276 (GRCm39) I272S probably benign Het
Fam149a C T 8: 45,834,611 (GRCm39) A63T Het
Fam83a A T 15: 57,872,977 (GRCm39) N269Y probably damaging Het
Fasn G A 11: 120,708,979 (GRCm39) T568I possibly damaging Het
Fbn1 A G 2: 125,156,637 (GRCm39) S2363P probably damaging Het
Fbxl4 T A 4: 22,390,803 (GRCm39) W329R probably damaging Het
Fgf12 A T 16: 28,008,233 (GRCm39) V189E probably damaging Het
Frmd4b A T 6: 97,269,359 (GRCm39) Y984* probably null Het
Galm A G 17: 80,490,661 (GRCm39) T273A possibly damaging Het
Gm43302 A G 5: 105,438,739 (GRCm39) S50P probably damaging Het
Gm45861 C T 8: 28,010,788 (GRCm39) S561L unknown Het
Gnao1 A G 8: 94,538,045 (GRCm39) I28V probably benign Het
Golga4 A G 9: 118,385,779 (GRCm39) N967S probably damaging Het
Gpr155 A T 2: 73,203,993 (GRCm39) F274I probably benign Het
Grm1 A C 10: 10,595,092 (GRCm39) N845K probably damaging Het
Hnrnpa2b1 A T 6: 51,443,120 (GRCm39) probably null Het
Hsf4 G T 8: 105,996,628 (GRCm39) D18Y probably null Het
Htt T A 5: 35,060,675 (GRCm39) D2774E probably benign Het
Irf4 T C 13: 30,945,414 (GRCm39) F387L probably damaging Het
Itgb5 A G 16: 33,720,962 (GRCm39) Y342C probably damaging Het
Kcnmb4 A G 10: 116,282,299 (GRCm39) W133R possibly damaging Het
Ldhc A T 7: 46,525,999 (GRCm39) H271L probably benign Het
Lmtk2 C A 5: 144,113,079 (GRCm39) D1266E probably damaging Het
Lrrtm1 C A 6: 77,221,807 (GRCm39) N421K possibly damaging Het
Ly9 G A 1: 171,432,587 (GRCm39) T142I probably benign Het
Manba A G 3: 135,223,764 (GRCm39) Y217C probably damaging Het
Mapkbp1 T C 2: 119,845,109 (GRCm39) L330P probably damaging Het
Marchf2 A T 17: 33,915,165 (GRCm39) V143E probably benign Het
Mmel1 A T 4: 154,969,478 (GRCm39) D191V possibly damaging Het
Mrgpra1 A T 7: 46,985,583 (GRCm39) I32N probably benign Het
Mroh2b C T 15: 4,960,510 (GRCm39) Q748* probably null Het
Mrpl34 T G 8: 71,918,024 (GRCm39) W66G probably damaging Het
Muc21 T C 17: 35,931,865 (GRCm39) T774A unknown Het
Nde1 T A 16: 14,001,446 (GRCm39) S165T Het
Nek10 T G 14: 14,937,610 (GRCm38) I776M probably damaging Het
Nell2 A G 15: 95,281,552 (GRCm39) S385P probably damaging Het
Nsf A T 11: 103,821,568 (GRCm39) F29Y possibly damaging Het
Nsmaf A T 4: 6,433,320 (GRCm39) Y133* probably null Het
Ogfr GGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGG GGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGG 2: 180,237,059 (GRCm39) probably benign Het
Or14j8 A T 17: 38,263,091 (GRCm39) S275T possibly damaging Het
Pcdhb8 A G 18: 37,489,776 (GRCm39) I485V probably benign Het
Poteg T A 8: 27,938,033 (GRCm39) M1K probably null Het
Pramel24 A T 4: 143,453,303 (GRCm39) N137I probably benign Het
Prdm5 G A 6: 65,860,569 (GRCm39) V418I possibly damaging Het
Psmc6 T A 14: 45,578,320 (GRCm39) C228S probably damaging Het
Ptgfrn C T 3: 100,963,927 (GRCm39) A562T possibly damaging Het
Ralgapa2 G T 2: 146,184,139 (GRCm39) Q1576K probably benign Het
Ranbp9 C T 13: 43,567,506 (GRCm39) G400D probably damaging Het
Rgs11 A T 17: 26,423,484 (GRCm39) I134F probably damaging Het
Rnf150 T A 8: 83,762,715 (GRCm39) C317S probably damaging Het
Rrm2b G A 15: 37,960,858 (GRCm39) probably benign Het
Scai T C 2: 38,996,978 (GRCm39) Q272R probably benign Het
Sec62 C T 3: 30,847,506 (GRCm39) R4C possibly damaging Het
Sgo2b C A 8: 64,393,091 (GRCm39) L115F probably null Het
Slc44a3 G A 3: 121,307,456 (GRCm39) P177S probably damaging Het
Slc45a4 G A 15: 73,457,966 (GRCm39) L528F probably damaging Het
Slco1a1 G T 6: 141,857,624 (GRCm39) A569D probably damaging Het
Stam2 G T 2: 52,604,984 (GRCm39) Q184K probably damaging Het
Tada2b A T 5: 36,641,166 (GRCm39) L79Q probably damaging Het
Tecpr1 T C 5: 144,153,117 (GRCm39) E204G possibly damaging Het
Tecta A T 9: 42,284,597 (GRCm39) D829E probably benign Het
Tepsin A G 11: 119,982,654 (GRCm39) V472A probably benign Het
Tnfrsf1a G A 6: 125,334,688 (GRCm39) M109I possibly damaging Het
Trim42 A T 9: 97,245,275 (GRCm39) Y508* probably null Het
Trmo T G 4: 46,387,625 (GRCm39) N65T probably benign Het
Tspear G T 10: 77,665,471 (GRCm39) E86* probably null Het
Ubr1 A T 2: 120,734,523 (GRCm39) S1126T probably damaging Het
Usp50 C A 2: 126,622,477 (GRCm39) D28Y probably damaging Het
Utp6 T A 11: 79,842,455 (GRCm39) I225F probably benign Het
Utrn T C 10: 12,543,351 (GRCm39) T1766A probably benign Het
Vcl T A 14: 21,045,160 (GRCm39) N288K probably benign Het
Vmn2r69 T C 7: 85,061,663 (GRCm39) N104D probably benign Het
Zc3h7b G A 15: 81,656,681 (GRCm39) R166Q probably benign Het
Zfhx4 T A 3: 5,455,484 (GRCm39) S1159R 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
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
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'- CTCAATTCCTGGGCTCAAGC -3'
(R):5'- CCCTGCTTAACACCTTGATATGTG -3'

Sequencing Primer
(F):5'- TGGGCTCAAGCAACCCTCATG -3'
(R):5'- CACCTTGATATGTGAATGCTGAG -3'
Posted On 2021-07-15