Incidental Mutation 'IGL03248:Iars2'
ID414499
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Iars2
Ensembl Gene ENSMUSG00000026618
Gene Nameisoleucine-tRNA synthetase 2, mitochondrial
Synonyms2010002H18Rik
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL03248
Quality Score
Status
Chromosome1
Chromosomal Location185284726-185329396 bp(-) (GRCm38)
Type of Mutationunclassified
DNA Base Change (assembly) A to G at 185291432 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000106603 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027921] [ENSMUST00000069652] [ENSMUST00000110975]
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: ENSMUST00000069652
SMART Domains Protein: ENSMUSP00000066325
Gene: ENSMUSG00000039318

DomainStartEndE-ValueType
low complexity region 52 62 N/A INTRINSIC
Pfam:RAB3GAP2_N 73 497 1.3e-167 PFAM
low complexity region 667 686 N/A INTRINSIC
Pfam:RAB3GAP2_C 767 1366 3.2e-245 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: ENSMUST00000131770
Predicted Effect noncoding transcript
Transcript: ENSMUST00000195042
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: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abhd5 T C 9: 122,368,225 F116S probably damaging Het
Accsl A G 2: 93,862,784 probably benign Het
Adgrl2 T A 3: 148,817,400 E165V probably damaging Het
Alb T C 5: 90,461,714 probably benign Het
Ank2 C A 3: 126,955,870 E503D probably damaging Het
Arhgef10 T C 8: 14,928,847 V38A probably benign Het
Astn2 A G 4: 65,746,293 probably benign Het
Bahcc1 G A 11: 120,268,409 R154H probably damaging Het
Cep120 A G 18: 53,735,772 Y112H probably benign Het
Chrna5 C T 9: 55,004,639 T241I probably damaging Het
Clasp1 A G 1: 118,602,476 S1215G probably benign Het
Ddx21 C T 10: 62,591,990 R378Q possibly damaging Het
Dnah1 A T 14: 31,269,889 L3052Q probably damaging Het
Dyrk4 G T 6: 126,884,053 T445K probably benign Het
Ercc4 T C 16: 13,127,593 W291R probably damaging Het
Fam208a C T 14: 27,476,692 T1327I probably damaging Het
Flvcr1 A G 1: 191,025,742 W76R probably damaging Het
Frmd3 A G 4: 74,128,218 I132V possibly damaging Het
Gnb4 T C 3: 32,585,175 D323G probably damaging Het
Hnrnpc G A 14: 52,075,439 probably benign Het
Hnrnpl T C 7: 28,814,080 S202P probably benign Het
Hydin T A 8: 110,595,289 F4524L probably damaging Het
Ino80d A G 1: 63,068,182 probably null Het
Itga8 C A 2: 12,132,516 A13S probably benign Het
Man2a1 T C 17: 64,713,611 F794S probably damaging Het
Mpp7 T C 18: 7,403,269 D347G probably benign Het
Nup93 T C 8: 94,306,088 L411P probably damaging Het
Olfr564 C T 7: 102,803,639 Q54* probably null Het
Plin1 C T 7: 79,722,634 V86I probably damaging Het
Rgs6 A G 12: 83,052,550 probably benign Het
Shroom3 C T 5: 92,952,540 P1473S probably benign Het
Slc12a8 A G 16: 33,551,027 I178V probably damaging Het
Slc20a2 T A 8: 22,558,983 S219T probably benign Het
Tfeb T C 17: 47,786,995 M36T probably benign Het
Trim33 G A 3: 103,310,973 probably benign Het
Trnau1ap A G 4: 132,321,803 Y30H probably damaging Het
Tulp1 T C 17: 28,359,324 K276E possibly damaging Het
Uvssa T A 5: 33,391,816 I340N probably damaging Het
Vmn1r32 T A 6: 66,552,913 N293I possibly damaging Het
Xpc T C 6: 91,504,583 N250S probably damaging Het
Ybey T C 10: 76,468,327 I14V probably benign Het
Zfhx3 T C 8: 108,946,550 Y1411H probably damaging Het
Other mutations in Iars2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00596:Iars2 APN 1 185315954 missense probably benign 0.00
IGL00906:Iars2 APN 1 185296403 splice site probably benign
IGL01287:Iars2 APN 1 185296428 missense possibly damaging 0.90
IGL01814:Iars2 APN 1 185302775 nonsense probably null
IGL02016:Iars2 APN 1 185303306 missense probably damaging 0.99
IGL02995:Iars2 APN 1 185303301 missense probably benign
IGL03002:Iars2 APN 1 185322816 splice site probably null
R0304:Iars2 UTSW 1 185287156 missense possibly damaging 0.77
R0711:Iars2 UTSW 1 185322388 splice site probably benign
R0783:Iars2 UTSW 1 185320874 missense probably damaging 1.00
R0990:Iars2 UTSW 1 185318627 missense probably damaging 1.00
R1867:Iars2 UTSW 1 185318568 missense probably benign 0.01
R1868:Iars2 UTSW 1 185318568 missense probably benign 0.01
R1957:Iars2 UTSW 1 185295671 missense possibly damaging 0.89
R2378:Iars2 UTSW 1 185327721 missense probably damaging 1.00
R3784:Iars2 UTSW 1 185287131 missense probably benign 0.17
R4061:Iars2 UTSW 1 185303386 missense possibly damaging 0.85
R4334:Iars2 UTSW 1 185303394 missense probably benign 0.35
R4708:Iars2 UTSW 1 185289357 missense probably benign 0.00
R4723:Iars2 UTSW 1 185315979 missense probably damaging 1.00
R4729:Iars2 UTSW 1 185316051 missense possibly damaging 0.71
R4851:Iars2 UTSW 1 185327648 missense probably damaging 0.99
R5033:Iars2 UTSW 1 185317928 missense possibly damaging 0.65
R5215:Iars2 UTSW 1 185294769 missense probably damaging 1.00
R5260:Iars2 UTSW 1 185323734 missense probably damaging 1.00
R5286:Iars2 UTSW 1 185323121 intron probably benign
R5614:Iars2 UTSW 1 185289508 missense probably benign 0.00
R6659:Iars2 UTSW 1 185288076 missense possibly damaging 0.76
R6838:Iars2 UTSW 1 185329145 missense probably damaging 0.98
R7057:Iars2 UTSW 1 185289367 missense probably benign 0.03
R7462:Iars2 UTSW 1 185322866 missense probably damaging 1.00
R7690:Iars2 UTSW 1 185320997 missense probably damaging 1.00
R8021:Iars2 UTSW 1 185322457 missense probably benign 0.05
R8097:Iars2 UTSW 1 185329389 unclassified probably benign
R8198:Iars2 UTSW 1 185297506 missense probably benign 0.19
R8283:Iars2 UTSW 1 185288091 nonsense probably null
R8543:Iars2 UTSW 1 185287144 missense probably benign 0.00
R8710:Iars2 UTSW 1 185295586 missense not run
R8713:Iars2 UTSW 1 185291418 missense not run
Z1177:Iars2 UTSW 1 185315895 nonsense probably null
Posted On2016-08-02