Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01153:Iars1'

52631

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 #

IGL01153

Quality Score

Status

Chromosome

Chromosomal Location

49835606-49887743 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 49865281 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Aspartic acid at position 586 (N586D)

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: N586D

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

SMART Domains

Protein: ENSMUSP00000048096
Gene: ENSMUSG00000037851
AA Change: N586D

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: N586D

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

SMART Domains

Protein: ENSMUSP00000126806
Gene: ENSMUSG00000037851
AA Change: N586D

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: N586D

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

SMART Domains

Protein: ENSMUSP00000132082
Gene: ENSMUSG00000037851
AA Change: N586D

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: 36 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrv1	T	C	13: 81,567,247 (GRCm39)	I5309V	probably benign	Het
Amy1	A	G	3: 113,349,724 (GRCm39)	V482A	possibly damaging	Het
Ankrd22	A	T	19: 34,106,229 (GRCm39)	V81E	probably damaging	Het
Ccr5	C	A	9: 123,924,649 (GRCm39)	T84K	probably damaging	Het
Cfap206	C	T	4: 34,721,562 (GRCm39)	S162N	probably damaging	Het
Chchd3	A	T	6: 32,985,502 (GRCm39)		probably benign	Het
Cpt1c	C	T	7: 44,616,092 (GRCm39)	E307K	probably damaging	Het
Cyth2	T	C	7: 45,457,813 (GRCm39)	Y120C	probably damaging	Het
Dnajb11	T	A	16: 22,681,430 (GRCm39)	D69E	probably benign	Het
Ece2	T	A	16: 20,451,544 (GRCm39)	M215K	possibly damaging	Het
Enox2	C	A	X: 48,151,015 (GRCm39)		probably null	Het
Fam120c	T	C	X: 150,182,801 (GRCm39)		probably null	Het
Fam149b	A	G	14: 20,427,949 (GRCm39)	T319A	possibly damaging	Het
Fndc1	A	T	17: 7,998,874 (GRCm39)		probably null	Het
Gcsh	T	A	8: 117,710,549 (GRCm39)	D138V	probably benign	Het
Herc3	T	A	6: 58,837,321 (GRCm39)	H331Q	probably benign	Het
Idh3g	A	G	X: 72,823,668 (GRCm39)	V280A	probably damaging	Het
Kctd18	A	G	1: 58,004,550 (GRCm39)	S115P	probably damaging	Het
Lims2	A	G	18: 32,090,370 (GRCm39)		probably null	Het
Lyset	T	A	12: 102,711,135 (GRCm39)	Y119*	probably null	Het
Mael	T	C	1: 166,029,919 (GRCm39)	K334E	possibly damaging	Het
Me3	A	C	7: 89,498,844 (GRCm39)	T475P	probably damaging	Het
Mrpl18	A	G	17: 13,134,693 (GRCm39)	L24P	possibly damaging	Het
Nol4	C	A	18: 22,902,850 (GRCm39)	R460L	probably damaging	Het
Numa1	A	T	7: 101,643,951 (GRCm39)	E181V	probably damaging	Het
Or6c2	T	A	10: 129,362,864 (GRCm39)	I256N	probably damaging	Het
Pex2	A	T	3: 5,626,424 (GRCm39)	H128Q	probably benign	Het
Pex3	A	T	10: 13,428,597 (GRCm39)		probably null	Het
Psmb8	A	G	17: 34,420,215 (GRCm39)	Y269C	possibly damaging	Het
Sh2d3c	A	G	2: 32,615,096 (GRCm39)	K62R	probably benign	Het
Strn4	G	A	7: 16,571,846 (GRCm39)	G613D	probably damaging	Het
Taok2	A	G	7: 126,470,204 (GRCm39)	W875R	probably damaging	Het
Tbc1d4	T	C	14: 101,845,451 (GRCm39)	D149G	possibly damaging	Het
Zfp473	A	G	7: 44,383,992 (GRCm39)	S113P	probably damaging	Het
Zfp768	A	G	7: 126,943,703 (GRCm39)	Y145H	possibly damaging	Het
Zgrf1	G	A	3: 127,396,055 (GRCm39)	G534R	probably 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
IGL01481:Iars1	APN	13	49,882,174 (GRCm39)	missense	probably benign	0.00
IGL01596:Iars1	APN	13	49,856,652 (GRCm39)	missense	probably benign
IGL01682:Iars1	APN	13	49,863,134 (GRCm39)	missense	probably damaging	1.00
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

2013-06-21