Mutagenetix > Incidental Mutation

Incidental Mutation 'R1005:Iars1'

95681

Institutional Source

Beutler Lab

Gene Symbol

Iars1

Ensembl Gene

ENSMUSG00000037851

Gene Name

isoleucyl-tRNA synthetase 1

Synonyms

Iars, 2510016L12Rik, E430001P04Rik

MMRRC Submission

039115-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1005 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

49835606-49887743 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 49840921 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 18 (I18T)

Ref Sequence

ENSEMBL: ENSMUSP00000132082 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000047363] [ENSMUST00000164260] [ENSMUST00000165316] [ENSMUST00000172254]

AlphaFold

Q8BU30

Predicted Effect

possibly damaging
Transcript: ENSMUST00000047363
AA Change: I18T

PolyPhen 2 Score 0.944 (Sensitivity: 0.80; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000048096
Gene: ENSMUSG00000037851
AA Change: I18T

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: ENSMUST00000157338

Predicted Effect

possibly damaging
Transcript: ENSMUST00000164260
AA Change: I18T

PolyPhen 2 Score 0.944 (Sensitivity: 0.80; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000126806
Gene: ENSMUSG00000037851
AA Change: I18T

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

possibly damaging
Transcript: ENSMUST00000165316
AA Change: I18T

PolyPhen 2 Score 0.944 (Sensitivity: 0.80; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000132082
Gene: ENSMUSG00000037851
AA Change: I18T

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: ENSMUST00000172254
AA Change: I18T

PolyPhen 2 Score 0.196 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000130058
Gene: ENSMUSG00000037851
AA Change: I18T

Domain	Start	End	E-Value	Type
Pfam:tRNA-synt_1	17	92	5.9e-33	PFAM
Pfam:tRNA-synt_1g	46	92	4.2e-7	PFAM

Meta Mutation Damage Score

0.4693

Coding Region Coverage

1x: 99.0%
3x: 98.1%
10x: 95.5%
20x: 90.5%

Validation Efficiency

100% (41/41)

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: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam18	T	C	8: 25,155,530 (GRCm39)	D163G	probably benign	Het
Adck1	G	A	12: 88,368,872 (GRCm39)	V117M	probably damaging	Het
Amph	G	A	13: 19,326,198 (GRCm39)	V643M	probably damaging	Het
Anpep	C	T	7: 79,488,004 (GRCm39)	E518K	probably benign	Het
Anxa6	A	T	11: 54,892,044 (GRCm39)	M304K	possibly damaging	Het
Aox1	A	G	1: 58,104,511 (GRCm39)	T563A	probably benign	Het
AW551984	G	A	9: 39,505,029 (GRCm39)	Q488*	probably null	Het
Cbx2	A	G	11: 118,919,400 (GRCm39)	R322G	probably benign	Het
Csmd1	T	A	8: 16,338,707 (GRCm39)	T467S	probably damaging	Het
Cspg4	A	G	9: 56,796,020 (GRCm39)	I1252V	probably benign	Het
Enah	A	T	1: 181,789,495 (GRCm39)		probably benign	Het
Fam171a2	T	C	11: 102,331,007 (GRCm39)	M185V	probably benign	Het
Flt1	G	T	5: 147,618,695 (GRCm39)	N213K	probably damaging	Het
Fpr-rs3	T	C	17: 20,844,346 (GRCm39)	N265S	probably benign	Het
Gbp2	T	C	3: 142,336,262 (GRCm39)		probably benign	Het
Gm6871	A	T	7: 41,195,682 (GRCm39)	C352S	probably damaging	Het
Gm9742	T	C	13: 8,085,251 (GRCm39)		noncoding transcript	Het
Kel	T	C	6: 41,665,551 (GRCm39)	Y523C	probably damaging	Het
Klk1b8	T	A	7: 43,603,758 (GRCm39)	C198*	probably null	Het
Mc3r	A	G	2: 172,091,483 (GRCm39)	H235R	probably benign	Het
Nr0b2	G	T	4: 133,280,785 (GRCm39)	R17L	probably benign	Het
Or1a1b	A	G	11: 74,097,962 (GRCm39)	F27L	probably benign	Het
Prl7a1	G	A	13: 27,826,429 (GRCm39)	P2L	possibly damaging	Het
Prrt3	G	A	6: 113,471,739 (GRCm39)	A811V	probably damaging	Het
Rab28	A	G	5: 41,855,726 (GRCm39)		probably benign	Het
Rhobtb2	A	G	14: 70,035,726 (GRCm39)	L115P	probably damaging	Het
Robo4	A	G	9: 37,319,547 (GRCm39)	E599G	probably damaging	Het
Ros1	T	A	10: 52,004,501 (GRCm39)		probably benign	Het
Slc22a27	A	T	19: 7,904,116 (GRCm39)	L7Q	probably damaging	Het
Slfn5	T	A	11: 82,850,984 (GRCm39)	L427H	probably damaging	Het
Smarcad1	C	T	6: 65,085,711 (GRCm39)	H890Y	probably benign	Het
Snx31	A	G	15: 36,517,837 (GRCm39)		probably benign	Het
Sptb	C	T	12: 76,648,633 (GRCm39)		probably null	Het
Stard9	C	A	2: 120,504,117 (GRCm39)	S221R	probably damaging	Het
Ston2	T	C	12: 91,615,622 (GRCm39)	D262G	possibly damaging	Het
Trank1	T	G	9: 111,162,789 (GRCm39)	M16R	probably benign	Het
Trrap	A	G	5: 144,742,537 (GRCm39)	E1385G	probably damaging	Het
Ttc8	T	C	12: 98,903,403 (GRCm39)	S47P	probably benign	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
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
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

Predicted Primers

PCR Primer
(F):5'- TCTGAAGTGGTGATGGTTACATGCC -3'
(R):5'- AGGAACTCACCCATTCCTGTCCAG -3'

Sequencing Primer
(F):5'- TGATGGTTACATGCCTTTAAATATCC -3'
(R):5'- TCCTACTGTAGGGAAAGGCAC -3'

Posted On

2014-01-05