Incidental Mutation 'IGL03343:Iars'
ID417353
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Iars
Ensembl Gene ENSMUSG00000037851
Gene Nameisoleucine-tRNA synthetase
SynonymsE430001P04Rik, 2510016L12Rik
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL03343
Quality Score
Status
Chromosome13
Chromosomal Location49682100-49734267 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 49724747 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Leucine at position 916 (I916L)
Ref Sequence ENSEMBL: ENSMUSP00000132082 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000047363] [ENSMUST00000164260] [ENSMUST00000165316]
Predicted Effect probably benign
Transcript: ENSMUST00000047363
AA Change: I916L

PolyPhen 2 Score 0.115 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000048096
Gene: ENSMUSG00000037851
AA Change: I916L

DomainStartEndE-ValueType
Pfam:tRNA-synt_1 17 639 9.2e-242 PFAM
Pfam:tRNA-synt_1g 46 197 3.7e-6 PFAM
Pfam:Anticodon_1 693 852 1.1e-23 PFAM
low complexity region 1159 1167 N/A INTRINSIC
low complexity region 1169 1180 N/A INTRINSIC
low complexity region 1220 1229 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000164260
AA Change: I916L

PolyPhen 2 Score 0.115 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000126806
Gene: ENSMUSG00000037851
AA Change: I916L

DomainStartEndE-ValueType
Pfam:tRNA-synt_1 17 639 5.5e-238 PFAM
Pfam:tRNA-synt_1g 46 205 5.2e-8 PFAM
Pfam:tRNA-synt_1g 521 659 2.1e-5 PFAM
Pfam:Anticodon_1 693 852 7.1e-24 PFAM
low complexity region 1159 1167 N/A INTRINSIC
low complexity region 1169 1180 N/A INTRINSIC
low complexity region 1220 1229 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000165270
Predicted Effect probably benign
Transcript: ENSMUST00000165316
AA Change: I916L

PolyPhen 2 Score 0.115 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000132082
Gene: ENSMUSG00000037851
AA Change: I916L

DomainStartEndE-ValueType
Pfam:tRNA-synt_1 17 639 5.5e-238 PFAM
Pfam:tRNA-synt_1g 46 205 5.2e-8 PFAM
Pfam:tRNA-synt_1g 521 659 2.1e-5 PFAM
Pfam:Anticodon_1 693 852 7.1e-24 PFAM
low complexity region 1159 1167 N/A INTRINSIC
low complexity region 1169 1180 N/A INTRINSIC
low complexity region 1220 1229 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000165656
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. Isoleucine-tRNA synthetase belongs to the class-I aminoacyl-tRNA synthetase family and has been identified as a target of autoantibodies in the autoimmune disease polymyositis/dermatomyositis. Alternatively spliced transcript variants have been found. [provided by RefSeq, Nov 2012]
Allele List at MGI
Other mutations in this stock
Total: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
5430419D17Rik T A 7: 131,246,691 I858N probably damaging Het
Adamts17 A G 7: 67,075,316 H795R probably damaging Het
Adgrl2 A T 3: 148,859,380 I188K probably damaging Het
Adgrv1 A G 13: 81,283,388 Y5974H probably damaging Het
Angpt4 A G 2: 151,936,703 T336A probably damaging Het
Arhgap30 C A 1: 171,409,094 T1012N probably damaging Het
Asl A T 5: 130,012,067 Y178N probably damaging Het
Brd1 C A 15: 88,707,251 L714F possibly damaging Het
Ccdc129 T G 6: 55,968,584 D763E probably damaging Het
Ccdc47 A G 11: 106,204,962 S303P probably damaging Het
Cdk16 A G X: 20,695,759 K264E probably damaging Het
Cenpc1 A T 5: 86,016,322 F813L probably damaging Het
Cfp A C X: 20,928,009 F291C possibly damaging Het
Chordc1 T G 9: 18,312,466 F276V probably damaging Het
Clic4 C T 4: 135,218,578 R176H possibly damaging Het
Dusp27 T C 1: 166,099,448 D865G probably benign Het
Fcer1a T G 1: 173,225,473 N52T possibly damaging Het
Fndc7 A T 3: 108,867,308 C545S probably damaging Het
Frem2 T C 3: 53,652,253 D1611G probably damaging Het
Fryl G A 5: 73,076,695 P1496S probably benign Het
Gga3 A T 11: 115,592,486 N82K probably damaging Het
Gm43638 G A 5: 87,460,625 P452S possibly damaging Het
Gpn1 T C 5: 31,504,965 S244P probably damaging Het
Hspa12a T C 19: 58,799,396 S665G probably benign Het
Htt A G 5: 34,826,041 I995V probably benign Het
Ice1 C A 13: 70,602,929 L1679F probably damaging Het
Inpp1 A T 1: 52,799,327 D54E probably damaging Het
Irf2bpl T C 12: 86,882,939 E320G possibly damaging Het
Kcnn2 T C 18: 45,676,959 V421A probably damaging Het
Micu2 A G 14: 57,917,311 V419A probably benign Het
Nek9 C T 12: 85,303,609 C897Y probably damaging Het
Ofcc1 A C 13: 40,072,664 H797Q probably benign Het
Olfr1024 T C 2: 85,904,941 T38A probably benign Het
Olfr109 G A 17: 37,466,409 D68N probably damaging Het
Olfr1388 C A 11: 49,444,243 H131N probably damaging Het
Olfr822 T G 10: 130,075,256 L282R probably damaging Het
Pakap C T 4: 57,688,502 T115M probably damaging Het
Papss1 G A 3: 131,583,189 G151S probably benign Het
Plxnb1 A G 9: 109,114,712 T1956A probably damaging Het
Pomt1 A G 2: 32,253,712 probably benign Het
Ppfibp2 T A 7: 107,737,919 Y570* probably null Het
Ppp1r9a A G 6: 5,046,015 E493G probably damaging Het
Ptk2b A G 14: 66,169,421 F621L probably benign Het
Ptpn13 G T 5: 103,554,950 D1261Y possibly damaging Het
Ptprd C T 4: 76,059,729 G181D probably damaging Het
Rabgap1l T C 1: 160,443,283 T645A probably benign Het
Slc2a7 T C 4: 150,168,340 I479T probably damaging Het
Smc3 A G 19: 53,613,842 N40S probably damaging Het
Spata31 A T 13: 64,919,773 D83V probably benign Het
Sptb C T 12: 76,583,556 probably benign Het
Ssc4d A T 5: 135,961,174 C493* probably null Het
Ubr2 C A 17: 46,951,918 V1256L probably benign Het
Ubr3 T C 2: 69,973,146 probably benign Het
Vmn2r105 C T 17: 20,226,369 W456* probably null Het
Vmn2r24 T A 6: 123,816,111 I799N probably damaging Het
Vps13b G A 15: 35,917,170 G3720D possibly damaging Het
Other mutations in Iars
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00697:Iars APN 13 49709728 missense probably damaging 1.00
IGL00764:Iars APN 13 49711827 missense probably benign 0.34
IGL01153:Iars APN 13 49711805 missense probably damaging 1.00
IGL01481:Iars APN 13 49728698 missense probably benign 0.00
IGL01596:Iars APN 13 49703176 missense probably benign
IGL01682:Iars APN 13 49709658 missense probably damaging 1.00
IGL01885:Iars APN 13 49691499 missense probably benign 0.25
IGL01907:Iars APN 13 49709655 missense probably damaging 1.00
IGL02023:Iars APN 13 49688249 missense probably damaging 1.00
IGL02121:Iars APN 13 49724696 missense probably benign 0.00
IGL02365:Iars APN 13 49691499 missense probably benign 0.25
IGL02704:Iars APN 13 49721100 missense probably damaging 1.00
IGL02838:Iars APN 13 49690489 missense possibly damaging 0.87
IGL02975:Iars APN 13 49704849 missense probably damaging 1.00
IGL02982:Iars APN 13 49709709 missense probably benign 0.00
IGL03034:Iars APN 13 49690489 missense possibly damaging 0.87
IGL03060:Iars APN 13 49690447 critical splice acceptor site probably null
IGL03156:Iars APN 13 49703179 missense possibly damaging 0.87
IGL03206:Iars APN 13 49693070 missense possibly damaging 0.81
gannett_peak UTSW 13 49708421 missense probably damaging 1.00
wind_river UTSW 13 49701895 missense probably damaging 1.00
R0054:Iars UTSW 13 49693135 missense probably damaging 1.00
R0054:Iars UTSW 13 49693135 missense probably damaging 1.00
R0184:Iars UTSW 13 49722212 missense probably benign 0.00
R0200:Iars UTSW 13 49726202 missense possibly damaging 0.62
R0356:Iars UTSW 13 49703233 missense probably benign 0.03
R0383:Iars UTSW 13 49732342 missense probably damaging 0.99
R0657:Iars UTSW 13 49702519 missense probably damaging 1.00
R1005:Iars UTSW 13 49687445 missense possibly damaging 0.94
R1427:Iars UTSW 13 49704269 critical splice acceptor site probably null
R1449:Iars UTSW 13 49733710 missense probably damaging 0.99
R1647:Iars UTSW 13 49723002 missense possibly damaging 0.85
R1648:Iars UTSW 13 49723002 missense possibly damaging 0.85
R1664:Iars UTSW 13 49711775 missense probably damaging 0.98
R1763:Iars UTSW 13 49723077 critical splice donor site probably null
R2192:Iars UTSW 13 49688129 intron probably null
R2203:Iars UTSW 13 49722675 missense probably benign 0.00
R2357:Iars UTSW 13 49688203 missense probably damaging 1.00
R3724:Iars UTSW 13 49687384 critical splice acceptor site probably null
R4785:Iars UTSW 13 49724663 missense probably damaging 0.99
R4934:Iars UTSW 13 49717984 missense probably benign 0.17
R4999:Iars UTSW 13 49709661 missense probably damaging 1.00
R5048:Iars UTSW 13 49688237 missense probably damaging 0.99
R5268:Iars UTSW 13 49690491 missense probably damaging 1.00
R5394:Iars UTSW 13 49722165 missense probably damaging 1.00
R5486:Iars UTSW 13 49709573 splice site probably null
R5960:Iars UTSW 13 49724637 missense possibly damaging 0.68
R5972:Iars UTSW 13 49709632 missense possibly damaging 0.91
R5978:Iars UTSW 13 49722993 missense probably damaging 0.99
R6031:Iars UTSW 13 49705831 missense probably damaging 0.98
R6031:Iars UTSW 13 49705831 missense probably damaging 0.98
R6092:Iars UTSW 13 49708421 missense probably damaging 1.00
R6167:Iars UTSW 13 49722714 missense probably damaging 1.00
R6313:Iars UTSW 13 49708445 missense probably damaging 0.99
R6358:Iars UTSW 13 49727143 missense possibly damaging 0.67
R6385:Iars UTSW 13 49701895 missense probably damaging 1.00
R6403:Iars UTSW 13 49687495 missense probably damaging 1.00
R6575:Iars UTSW 13 49725269 missense probably damaging 1.00
R6675:Iars UTSW 13 49719578 missense probably damaging 0.99
R6957:Iars UTSW 13 49722161 missense probably damaging 1.00
R7207:Iars UTSW 13 49688315 critical splice donor site probably null
R7254:Iars UTSW 13 49723078 critical splice donor site probably null
R7354:Iars UTSW 13 49704320 missense probably benign
R7397:Iars UTSW 13 49728677 missense probably benign 0.00
R7696:Iars UTSW 13 49706738 missense probably damaging 1.00
R7799:Iars UTSW 13 49723018 missense probably damaging 1.00
R7828:Iars UTSW 13 49725272 missense probably benign
Z1088:Iars UTSW 13 49721088 missense probably benign
Posted On2016-08-02