Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01682:Iars1'

103831

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Iars1

Ensembl Gene

ENSMUSG00000037851

Gene Name

isoleucyl-tRNA synthetase 1

Synonyms

Iars, 2510016L12Rik, E430001P04Rik

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL01682

Quality Score

Status

Chromosome

Chromosomal Location

49835606-49887743 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 49863134 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Lysine at position 529 (E529K)

Ref Sequence

ENSEMBL: ENSMUSP00000132082 (fasta)

Gene Model

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

AlphaFold

Q8BU30

Predicted Effect

probably damaging
Transcript: ENSMUST00000047363
AA Change: E529K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000048096
Gene: ENSMUSG00000037851
AA Change: E529K

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 damaging
Transcript: ENSMUST00000164260
AA Change: E529K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000126806
Gene: ENSMUSG00000037851
AA Change: E529K

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 damaging
Transcript: ENSMUST00000165316
AA Change: E529K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000132082
Gene: ENSMUSG00000037851
AA Change: E529K

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: 30 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Agmo	T	C	12: 37,407,626 (GRCm39)		probably benign	Het
Atp2c1	C	T	9: 105,330,041 (GRCm39)	G93D	probably damaging	Het
C2cd6	T	G	1: 59,101,660 (GRCm39)	Y333S	probably damaging	Het
Cacna1a	A	G	8: 85,263,067 (GRCm39)	E414G	possibly damaging	Het
Capn10	C	A	1: 92,868,106 (GRCm39)	T191K	probably benign	Het
Cd226	A	T	18: 89,287,187 (GRCm39)	R328S	probably damaging	Het
Cdk10	A	G	8: 123,954,397 (GRCm39)		probably null	Het
Cyp4a31	T	A	4: 115,435,228 (GRCm39)	V486D	probably damaging	Het
Dgke	A	T	11: 88,943,267 (GRCm39)	L241I	probably damaging	Het
Dnah6	G	T	6: 73,052,785 (GRCm39)	A2965E	probably damaging	Het
Fbn2	A	T	18: 58,205,743 (GRCm39)	C1112S	probably damaging	Het
Gm10228	T	A	16: 88,838,073 (GRCm39)	Y77F	unknown	Het
Gng3	T	C	19: 8,815,944 (GRCm39)	I25V	probably benign	Het
Gramd2a	A	G	9: 59,619,393 (GRCm39)	I61M	possibly damaging	Het
Hcar2	T	C	5: 124,002,582 (GRCm39)	N307S	probably benign	Het
Ilvbl	C	T	10: 78,412,941 (GRCm39)		probably benign	Het
Itprid2	A	G	2: 79,465,981 (GRCm39)	Q33R	probably damaging	Het
Lrp1	T	C	10: 127,410,847 (GRCm39)	K1447R	probably benign	Het
Mmp20	A	G	9: 7,671,376 (GRCm39)	D426G	probably benign	Het
Muc4	G	A	16: 32,754,086 (GRCm38)	G1321R	probably benign	Het
Or4f4b	G	A	2: 111,314,188 (GRCm39)	G138S	probably damaging	Het
Or51f2	C	T	7: 102,526,440 (GRCm39)	L38F	probably benign	Het
Pip4k2a	A	G	2: 19,002,779 (GRCm39)	S10P	probably benign	Het
Pth1r	A	T	9: 110,552,774 (GRCm39)		probably null	Het
Rprd1b	T	C	2: 157,892,080 (GRCm39)	I201T	probably damaging	Het
Rsbn1	A	G	3: 103,869,696 (GRCm39)	N719S	probably benign	Het
Sorcs1	C	T	19: 50,169,944 (GRCm39)	G939E	probably benign	Het
St8sia5	A	G	18: 77,336,196 (GRCm39)	K210E	probably damaging	Het
Trav3-1	G	A	14: 52,818,649 (GRCm39)	V108M	probably benign	Het
Washc4	T	C	10: 83,416,170 (GRCm39)	I820T	possibly damaging	Het

Other mutations in Iars1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00697:Iars1	APN	13	49,863,204 (GRCm39)	missense	probably damaging	1.00
IGL00764:Iars1	APN	13	49,865,303 (GRCm39)	missense	probably benign	0.34
IGL01153:Iars1	APN	13	49,865,281 (GRCm39)	missense	probably damaging	1.00
IGL01481:Iars1	APN	13	49,882,174 (GRCm39)	missense	probably benign	0.00
IGL01596:Iars1	APN	13	49,856,652 (GRCm39)	missense	probably benign
IGL01885:Iars1	APN	13	49,844,975 (GRCm39)	missense	probably benign	0.25
IGL01907:Iars1	APN	13	49,863,131 (GRCm39)	missense	probably damaging	1.00
IGL02023:Iars1	APN	13	49,841,725 (GRCm39)	missense	probably damaging	1.00
IGL02121:Iars1	APN	13	49,878,172 (GRCm39)	missense	probably benign	0.00
IGL02365:Iars1	APN	13	49,844,975 (GRCm39)	missense	probably benign	0.25
IGL02704:Iars1	APN	13	49,874,576 (GRCm39)	missense	probably damaging	1.00
IGL02838:Iars1	APN	13	49,843,965 (GRCm39)	missense	possibly damaging	0.87
IGL02975:Iars1	APN	13	49,858,325 (GRCm39)	missense	probably damaging	1.00
IGL02982:Iars1	APN	13	49,863,185 (GRCm39)	missense	probably benign	0.00
IGL03034:Iars1	APN	13	49,843,965 (GRCm39)	missense	possibly damaging	0.87
IGL03060:Iars1	APN	13	49,843,923 (GRCm39)	critical splice acceptor site	probably null
IGL03156:Iars1	APN	13	49,856,655 (GRCm39)	missense	possibly damaging	0.87
IGL03206:Iars1	APN	13	49,846,546 (GRCm39)	missense	possibly damaging	0.81
IGL03343:Iars1	APN	13	49,878,223 (GRCm39)	missense	probably benign	0.12
gannett_peak	UTSW	13	49,861,897 (GRCm39)	missense	probably damaging	1.00
missouri	UTSW	13	49,841,752 (GRCm39)	missense	possibly damaging	0.82
spacex	UTSW	13	49,876,478 (GRCm39)	missense	possibly damaging	0.85
wind_river	UTSW	13	49,855,371 (GRCm39)	missense	probably damaging	1.00
R0054:Iars1	UTSW	13	49,846,611 (GRCm39)	missense	probably damaging	1.00
R0054:Iars1	UTSW	13	49,846,611 (GRCm39)	missense	probably damaging	1.00
R0184:Iars1	UTSW	13	49,875,688 (GRCm39)	missense	probably benign	0.00
R0200:Iars1	UTSW	13	49,879,678 (GRCm39)	missense	possibly damaging	0.62
R0356:Iars1	UTSW	13	49,856,709 (GRCm39)	missense	probably benign	0.03
R0383:Iars1	UTSW	13	49,885,818 (GRCm39)	missense	probably damaging	0.99
R0657:Iars1	UTSW	13	49,855,995 (GRCm39)	missense	probably damaging	1.00
R1005:Iars1	UTSW	13	49,840,921 (GRCm39)	missense	possibly damaging	0.94
R1427:Iars1	UTSW	13	49,857,745 (GRCm39)	critical splice acceptor site	probably null
R1449:Iars1	UTSW	13	49,887,186 (GRCm39)	missense	probably damaging	0.99
R1647:Iars1	UTSW	13	49,876,478 (GRCm39)	missense	possibly damaging	0.85
R1648:Iars1	UTSW	13	49,876,478 (GRCm39)	missense	possibly damaging	0.85
R1664:Iars1	UTSW	13	49,865,251 (GRCm39)	missense	probably damaging	0.98
R1763:Iars1	UTSW	13	49,876,553 (GRCm39)	critical splice donor site	probably null
R2192:Iars1	UTSW	13	49,841,605 (GRCm39)	splice site	probably null
R2203:Iars1	UTSW	13	49,876,151 (GRCm39)	missense	probably benign	0.00
R2357:Iars1	UTSW	13	49,841,679 (GRCm39)	missense	probably damaging	1.00
R3724:Iars1	UTSW	13	49,840,860 (GRCm39)	critical splice acceptor site	probably null
R4785:Iars1	UTSW	13	49,878,139 (GRCm39)	missense	probably damaging	0.99
R4934:Iars1	UTSW	13	49,871,460 (GRCm39)	missense	probably benign	0.17
R4999:Iars1	UTSW	13	49,863,137 (GRCm39)	missense	probably damaging	1.00
R5048:Iars1	UTSW	13	49,841,713 (GRCm39)	missense	probably damaging	0.99
R5268:Iars1	UTSW	13	49,843,967 (GRCm39)	missense	probably damaging	1.00
R5394:Iars1	UTSW	13	49,875,641 (GRCm39)	missense	probably damaging	1.00
R5486:Iars1	UTSW	13	49,863,049 (GRCm39)	splice site	probably null
R5960:Iars1	UTSW	13	49,878,113 (GRCm39)	missense	possibly damaging	0.68
R5972:Iars1	UTSW	13	49,863,108 (GRCm39)	missense	possibly damaging	0.91
R5978:Iars1	UTSW	13	49,876,469 (GRCm39)	missense	probably damaging	0.99
R6031:Iars1	UTSW	13	49,859,307 (GRCm39)	missense	probably damaging	0.98
R6031:Iars1	UTSW	13	49,859,307 (GRCm39)	missense	probably damaging	0.98
R6092:Iars1	UTSW	13	49,861,897 (GRCm39)	missense	probably damaging	1.00
R6167:Iars1	UTSW	13	49,876,190 (GRCm39)	missense	probably damaging	1.00
R6313:Iars1	UTSW	13	49,861,921 (GRCm39)	missense	probably damaging	0.99
R6358:Iars1	UTSW	13	49,880,619 (GRCm39)	missense	possibly damaging	0.67
R6385:Iars1	UTSW	13	49,855,371 (GRCm39)	missense	probably damaging	1.00
R6403:Iars1	UTSW	13	49,840,971 (GRCm39)	missense	probably damaging	1.00
R6575:Iars1	UTSW	13	49,878,745 (GRCm39)	missense	probably damaging	1.00
R6675:Iars1	UTSW	13	49,873,054 (GRCm39)	missense	probably damaging	0.99
R6957:Iars1	UTSW	13	49,875,637 (GRCm39)	missense	probably damaging	1.00
R7207:Iars1	UTSW	13	49,841,791 (GRCm39)	critical splice donor site	probably null
R7254:Iars1	UTSW	13	49,876,554 (GRCm39)	critical splice donor site	probably null
R7354:Iars1	UTSW	13	49,857,796 (GRCm39)	missense	probably benign
R7397:Iars1	UTSW	13	49,882,153 (GRCm39)	missense	probably benign	0.00
R7696:Iars1	UTSW	13	49,860,214 (GRCm39)	missense	probably damaging	1.00
R7799:Iars1	UTSW	13	49,876,494 (GRCm39)	missense	probably damaging	1.00
R7828:Iars1	UTSW	13	49,878,748 (GRCm39)	missense	probably benign
R8679:Iars1	UTSW	13	49,856,675 (GRCm39)	unclassified	probably benign
R8768:Iars1	UTSW	13	49,878,102 (GRCm39)	missense	probably damaging	0.99
R8797:Iars1	UTSW	13	49,841,738 (GRCm39)	missense	probably benign	0.12
R8906:Iars1	UTSW	13	49,882,177 (GRCm39)	missense	probably benign
R8990:Iars1	UTSW	13	49,841,752 (GRCm39)	missense	possibly damaging	0.82
R9134:Iars1	UTSW	13	49,855,323 (GRCm39)	missense	probably benign	0.00
R9137:Iars1	UTSW	13	49,855,350 (GRCm39)	missense	probably benign
R9394:Iars1	UTSW	13	49,883,536 (GRCm39)	missense	probably benign
R9668:Iars1	UTSW	13	49,840,885 (GRCm39)	missense	probably damaging	0.98
R9741:Iars1	UTSW	13	49,844,978 (GRCm39)	missense	probably damaging	0.99
Z1088:Iars1	UTSW	13	49,874,564 (GRCm39)	missense	probably benign

Posted On

2014-01-21