Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02982:Iars'

406587

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Iars

Ensembl Gene

ENSMUSG00000037851

Gene Name

isoleucine-tRNA synthetase

Synonyms

E430001P04Rik, 2510016L12Rik

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL02982

Quality Score

Status

Chromosome

Chromosomal Location

49682100-49734267 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 49709709 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Cysteine at position 546 (R546C)

Ref Sequence

ENSEMBL: ENSMUSP00000132082 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000047363] [ENSMUST00000164260] [ENSMUST00000165316] [ENSMUST00000171510]

AlphaFold

Q8BU30

Predicted Effect

probably benign
Transcript: ENSMUST00000047363
AA Change: R546C

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000048096
Gene: ENSMUSG00000037851
AA Change: R546C

Domain	Start	End	E-Value	Type
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

noncoding transcript
Transcript: ENSMUST00000104172

Predicted Effect

probably benign
Transcript: ENSMUST00000164260
AA Change: R546C

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000126806
Gene: ENSMUSG00000037851
AA Change: R546C

Domain	Start	End	E-Value	Type
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: ENSMUST00000164275

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000165063

Predicted Effect

probably benign
Transcript: ENSMUST00000165316
AA Change: R546C

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000132082
Gene: ENSMUSG00000037851
AA Change: R546C

Domain	Start	End	E-Value	Type
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

probably benign
Transcript: ENSMUST00000171510

SMART Domains

Protein: ENSMUSP00000130204
Gene: ENSMUSG00000037851

Domain	Start	End	E-Value	Type
Pfam:tRNA-synt_1	1	96	5.6e-28	PFAM

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: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam5	G	T	8: 24,804,431	A384D	probably benign	Het
Adamts19	T	A	18: 59,024,518	C961S	probably damaging	Het
Agbl2	G	A	2: 90,805,815	C565Y	probably damaging	Het
Aox3	G	A	1: 58,127,687	E190K	probably benign	Het
Arf2	T	G	11: 103,981,776	D74E	probably damaging	Het
Bptf	T	G	11: 107,076,674	D960A	probably damaging	Het
Ccdc180	G	T	4: 45,903,840		probably benign	Het
Ces1a	A	G	8: 93,044,975	F65L	probably damaging	Het
Def8	T	C	8: 123,456,539		probably benign	Het
Fat4	T	C	3: 38,890,843	L1295P	probably damaging	Het
Filip1l	A	G	16: 57,572,232	H1061R	probably damaging	Het
Fut2	C	T	7: 45,650,769	G193E	possibly damaging	Het
Gldc	A	G	19: 30,145,145		probably null	Het
Gm597	T	C	1: 28,778,054	H299R	probably damaging	Het
Golgb1	A	C	16: 36,925,810	D2917A	probably damaging	Het
Gpc5	G	A	14: 115,369,988	C334Y	probably damaging	Het
Gpsm1	T	A	2: 26,324,859	L252Q	probably damaging	Het
Kbtbd8	G	T	6: 95,126,566	V399L	probably benign	Het
Kcnd2	A	T	6: 21,217,149	D284V	probably damaging	Het
Kcnj6	T	C	16: 94,832,517	K227R	possibly damaging	Het
Lhx9	A	T	1: 138,838,611	H155Q	probably damaging	Het
Mcm9	A	G	10: 53,625,826	V221A	probably damaging	Het
Myo9a	A	T	9: 59,908,208	K2237*	probably null	Het
Ntf3	A	T	6: 126,102,377	D55E	probably damaging	Het
Olfr1229	G	T	2: 89,283,109	T29K	probably damaging	Het
Olfr61	A	T	7: 140,637,952	I84F	probably benign	Het
Plek	T	A	11: 16,981,826	I342F	probably damaging	Het
Polrmt	A	G	10: 79,738,348	Y853H	probably damaging	Het
Psg29	A	G	7: 17,211,707	T401A	probably damaging	Het
Ptprb	A	G	10: 116,322,628	T822A	probably benign	Het
Ptprq	A	C	10: 107,586,684	F1616V	probably damaging	Het
Rpe65	T	A	3: 159,600,361	V19E	probably damaging	Het
Scamp2	G	A	9: 57,581,549	A178T	probably benign	Het
Spta1	A	G	1: 174,187,288	I445V	probably benign	Het
Tas2r135	A	G	6: 42,406,253	E242G	probably benign	Het
Ttc22	T	C	4: 106,638,586	V379A	probably damaging	Het
Unc5d	C	T	8: 28,652,853	G857E	probably damaging	Het
Usp28	A	G	9: 49,018,439	I43V	probably benign	Het
Vmn2r68	A	T	7: 85,234,441	M152K	probably benign	Het
Wrn	C	T	8: 33,343,066	G133R	probably damaging	Het
Zfyve26	G	A	12: 79,263,870	T187M	probably damaging	Het
Zic2	A	G	14: 122,478,567	E367G	probably damaging	Het

Other mutations in Iars

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
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
IGL03343:Iars	APN	13	49724747	missense	probably benign	0.12
gannett_peak	UTSW	13	49708421	missense	probably damaging	1.00
spacex	UTSW	13	49723002	missense	possibly damaging	0.85
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	splice site	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
R8679:Iars	UTSW	13	49703199	unclassified	probably benign
R8768:Iars	UTSW	13	49724626	missense	probably damaging	0.99
R8797:Iars	UTSW	13	49688262	missense	probably benign	0.12
R8906:Iars	UTSW	13	49728701	missense	probably benign
R8990:Iars	UTSW	13	49688276	missense	possibly damaging	0.82
R9134:Iars	UTSW	13	49701847	missense	probably benign	0.00
R9137:Iars	UTSW	13	49701874	missense	probably benign
R9394:Iars	UTSW	13	49730060	missense	probably benign
Z1088:Iars	UTSW	13	49721088	missense	probably benign

Posted On

2016-08-02