Mutagenetix > Incidental Mutation

Incidental Mutation 'R5486:Iars1'

430378

Institutional Source

Beutler Lab

Gene Symbol

Iars1

Ensembl Gene

ENSMUSG00000037851

Gene Name

isoleucyl-tRNA synthetase 1

Synonyms

Iars, 2510016L12Rik, E430001P04Rik

MMRRC Submission

043047-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5486 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

49835606-49887743 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

T to A at 49863049 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000132082 (fasta)

Gene Model

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

AlphaFold

Q8BU30

Predicted Effect

probably null
Transcript: ENSMUST00000047363

SMART Domains

Protein: ENSMUSP00000048096
Gene: ENSMUSG00000037851

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

probably null
Transcript: ENSMUST00000047363

SMART Domains

Protein: ENSMUSP00000048096
Gene: ENSMUSG00000037851

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 null
Transcript: ENSMUST00000164260

SMART Domains

Protein: ENSMUSP00000126806
Gene: ENSMUSG00000037851

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 null
Transcript: ENSMUST00000164260

SMART Domains

Protein: ENSMUSP00000126806
Gene: ENSMUSG00000037851

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 null
Transcript: ENSMUST00000165316

SMART Domains

Protein: ENSMUSP00000132082
Gene: ENSMUSG00000037851

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

1x: 98.2%
3x: 97.2%
10x: 95.1%
20x: 90.4%

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: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A930009A15Rik	G	T	10: 115,415,810 (GRCm39)		probably benign	Het
Acad8	A	T	9: 26,910,791 (GRCm39)	M1K	probably null	Het
Adam12	C	A	7: 133,509,401 (GRCm39)	R786S	possibly damaging	Het
Add3	G	A	19: 53,232,818 (GRCm39)	V604I	probably benign	Het
Alpk2	A	T	18: 65,427,425 (GRCm39)		probably null	Het
Ano3	T	C	2: 110,576,215 (GRCm39)	D102G	probably damaging	Het
Bdp1	T	C	13: 100,235,018 (GRCm39)	Y192C	probably damaging	Het
Bod1l	A	T	5: 41,964,524 (GRCm39)	D2693E	possibly damaging	Het
Ccdc7a	T	C	8: 129,711,884 (GRCm39)	N284D	probably damaging	Het
Clic6	A	G	16: 92,326,740 (GRCm39)		probably null	Het
Cln5	T	C	14: 103,313,630 (GRCm39)	I294T	probably damaging	Het
Cmklr1	C	G	5: 113,752,990 (GRCm39)	D4H	possibly damaging	Het
Cyp2d9	T	A	15: 82,336,779 (GRCm39)	W43R	probably damaging	Het
Dnajb12	GC	G	10: 59,728,574 (GRCm39)		probably null	Het
Erlec1	A	T	11: 30,885,047 (GRCm39)	H413Q	probably damaging	Het
Fam168a	T	A	7: 100,483,376 (GRCm39)	M203K	probably damaging	Het
Fat2	A	T	11: 55,144,507 (GRCm39)	S4122R	probably benign	Het
Fgd4	A	T	16: 16,292,901 (GRCm39)	L272Q	probably damaging	Het
Hpcal4	A	G	4: 123,084,557 (GRCm39)	K162R	probably benign	Het
Lbr	A	G	1: 181,646,403 (GRCm39)		probably null	Het
Lrp2	T	C	2: 69,267,809 (GRCm39)	I4259V	probably benign	Het
Mcm3	C	T	1: 20,885,118 (GRCm39)	G189S	probably damaging	Het
Nr1d2	A	G	14: 18,206,860 (GRCm38)	V137A	possibly damaging	Het
Or52d1	C	A	7: 103,755,705 (GRCm39)	T73N	probably damaging	Het
Or52n3	T	A	7: 104,530,168 (GRCm39)	C85S	probably benign	Het
Or7g33	A	G	9: 19,448,590 (GRCm39)	V212A	probably benign	Het
Pim3	T	C	15: 88,747,425 (GRCm39)	V97A	possibly damaging	Het
Piwil2	T	C	14: 70,638,880 (GRCm39)	N479S	probably benign	Het
Pld3	C	A	7: 27,233,156 (GRCm39)	W365L	probably damaging	Het
Plk3	C	A	4: 116,987,600 (GRCm39)	E412*	probably null	Het
Psmd1	A	G	1: 86,064,772 (GRCm39)	I935V	possibly damaging	Het
Sh2b2	A	G	5: 136,260,944 (GRCm39)	S91P	probably benign	Het
Skor2	A	G	18: 76,946,395 (GRCm39)	N39S	unknown	Het
Slc22a22	A	G	15: 57,126,847 (GRCm39)	V55A	probably damaging	Het
Smg7	A	G	1: 152,721,927 (GRCm39)	S595P	probably damaging	Het
Snrnp200	C	T	2: 127,074,986 (GRCm39)	P1520S	possibly damaging	Het
Taar7a	T	A	10: 23,868,356 (GRCm39)	T342S	probably benign	Het
Tecpr2	A	T	12: 110,899,449 (GRCm39)	I606F	probably benign	Het
Tex19.2	A	T	11: 121,008,304 (GRCm39)	M48K	probably benign	Het
Thoc1	A	G	18: 9,992,204 (GRCm39)	T511A	probably benign	Het
Trpc2	GTGTCCTA	GTGTCCTATGTCCTA	7: 101,744,420 (GRCm39)		probably null	Het
Ubr5	C	A	15: 38,008,983 (GRCm39)	A1077S	probably benign	Het
Wdr95	A	T	5: 149,519,795 (GRCm39)	R571*	probably null	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
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
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'- TTTGCATGCTGTCATTAGGAAC -3'
(R):5'- AGTCTGCAGGAAAGGCATCC -3'

Sequencing Primer
(F):5'- CCGCCATTGATGTCAGAAGTC -3'
(R):5'- GGCATCCTCAAACTCGCG -3'

Posted On

2016-10-05