Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03034:Iars1'

408566

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 #

IGL03034

Quality Score

Status

Chromosome

Chromosomal Location

49835606-49887743 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 49843965 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 146 (N146K)

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: N146K

PolyPhen 2 Score 0.865 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000048096
Gene: ENSMUSG00000037851
AA Change: N146K

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

possibly damaging
Transcript: ENSMUST00000164260
AA Change: N146K

PolyPhen 2 Score 0.865 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000126806
Gene: ENSMUSG00000037851
AA Change: N146K

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: N146K

PolyPhen 2 Score 0.865 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000132082
Gene: ENSMUSG00000037851
AA Change: N146K

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

SMART Domains

Protein: ENSMUSP00000130058
Gene: ENSMUSG00000037851

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

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: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5530401A14Rik	C	T	11: 81,780,908 (GRCm39)		probably benign	Het
Ablim2	A	G	5: 35,985,509 (GRCm39)	T269A	probably benign	Het
Asgr2	G	T	11: 69,989,089 (GRCm39)	G178W	probably damaging	Het
Chtf18	A	G	17: 25,946,320 (GRCm39)		probably benign	Het
Cnmd	C	T	14: 79,879,368 (GRCm39)	A257T	probably benign	Het
Cox7a1	A	G	7: 29,884,693 (GRCm39)		probably benign	Het
Cpox	C	T	16: 58,495,718 (GRCm39)	T345M	probably damaging	Het
Crisp1	T	C	17: 40,618,619 (GRCm39)	T81A	probably benign	Het
Dcc	T	A	18: 71,708,214 (GRCm39)	R501*	probably null	Het
Dlx6	A	C	6: 6,863,807 (GRCm39)	Q143P	probably benign	Het
Dpp10	T	A	1: 123,269,348 (GRCm39)	Y687F	probably damaging	Het
Eif2b1	A	G	5: 124,709,894 (GRCm39)	V228A	probably benign	Het
Enpep	T	C	3: 129,092,599 (GRCm39)	D528G	probably damaging	Het
Fbxo6	G	A	4: 148,230,579 (GRCm39)	Q228*	probably null	Het
Kctd9	T	A	14: 67,971,728 (GRCm39)	S268T	probably benign	Het
Kifap3	G	A	1: 163,715,846 (GRCm39)	V749M	probably benign	Het
Mdm4	T	C	1: 132,938,809 (GRCm39)	D94G	probably damaging	Het
Mllt10	T	G	2: 18,069,847 (GRCm39)	M1R	probably null	Het
Mtcl1	T	C	17: 66,651,193 (GRCm39)	Y1424C	probably damaging	Het
Mybpc2	A	T	7: 44,161,321 (GRCm39)	I549N	possibly damaging	Het
Myocd	T	C	11: 65,109,511 (GRCm39)	T87A	probably benign	Het
Nr3c2	T	G	8: 77,914,267 (GRCm39)	Y824*	probably null	Het
Omg	T	A	11: 79,392,947 (GRCm39)	T304S	possibly damaging	Het
Or4b1	A	G	2: 89,980,177 (GRCm39)	Y58H	probably damaging	Het
Or52p2	G	A	7: 102,237,147 (GRCm39)	H268Y	probably benign	Het
Or5an1b	T	C	19: 12,300,018 (GRCm39)	T58A	possibly damaging	Het
Or5b97	T	C	19: 12,879,121 (GRCm39)	T8A	possibly damaging	Het
Or6c2	A	T	10: 129,362,527 (GRCm39)	I144F	probably benign	Het
Pde3a	G	A	6: 141,438,126 (GRCm39)		probably benign	Het
Phf20l1	A	G	15: 66,469,252 (GRCm39)	K129E	probably damaging	Het
Phka2	G	T	X: 159,360,546 (GRCm39)	E858*	probably null	Het
Pp2d1	T	C	17: 53,815,081 (GRCm39)	T548A	possibly damaging	Het
Prr14l	G	A	5: 32,984,782 (GRCm39)	A1571V	possibly damaging	Het
Rbms3	A	G	9: 117,080,879 (GRCm39)		probably benign	Het
Sparcl1	T	C	5: 104,241,103 (GRCm39)	E107G	probably damaging	Het
Stra6l	A	G	4: 45,885,392 (GRCm39)	D620G	probably benign	Het
Traf3ip2	A	T	10: 39,502,215 (GRCm39)	K121I	probably damaging	Het
Ttc34	T	C	4: 154,945,640 (GRCm39)	S734P	probably damaging	Het
Zfp953	C	T	13: 67,491,526 (GRCm39)	C142Y	probably damaging	Het
Zfp955b	T	A	17: 33,521,142 (GRCm39)	C204S	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
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

2016-08-02