Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03206:Iars'

413132

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Iars

Ensembl Gene

ENSMUSG00000037851

Gene Name

isoleucine-tRNA synthetase

Synonyms

E430001P04Rik, 2510016L12Rik

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL03206

Quality Score

Status

Chromosome

Chromosomal Location

49682100-49734267 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 49693070 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 215 (D215G)

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: D215G

PolyPhen 2 Score 0.810 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000048096
Gene: ENSMUSG00000037851
AA Change: D215G

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: D215G

PolyPhen 2 Score 0.810 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000126806
Gene: ENSMUSG00000037851
AA Change: D215G

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: D215G

PolyPhen 2 Score 0.810 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000132082
Gene: ENSMUSG00000037851
AA Change: D215G

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: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2ml1	T	A	6: 128,553,276 (GRCm38)	E939D	possibly damaging	Het
Aloxe3	C	A	11: 69,129,646 (GRCm38)	A172D	possibly damaging	Het
Bscl2	G	A	19: 8,843,089 (GRCm38)	R158Q	probably damaging	Het
Cdon	A	G	9: 35,503,306 (GRCm38)	D1159G	probably benign	Het
Cep164	A	G	9: 45,802,725 (GRCm38)	V203A	probably benign	Het
Chml	T	C	1: 175,687,737 (GRCm38)	D206G	probably benign	Het
E2f6	T	C	12: 16,822,089 (GRCm38)		probably benign	Het
Emilin3	T	A	2: 160,910,799 (GRCm38)	Y77F	probably damaging	Het
Fbxw15	A	T	9: 109,565,362 (GRCm38)	N128K	possibly damaging	Het
Gjd2	A	G	2: 114,011,723 (GRCm38)	L91P	probably damaging	Het
Gm12830	T	A	4: 114,845,117 (GRCm38)		probably benign	Het
Gpr161	T	A	1: 165,321,649 (GRCm38)	L529Q	probably damaging	Het
Hoxd10	T	A	2: 74,692,432 (GRCm38)	Y151*	probably null	Het
Ift140	T	C	17: 25,092,826 (GRCm38)	V1241A	probably damaging	Het
Kdm5b	A	G	1: 134,627,317 (GRCm38)	N1321S	probably benign	Het
Lrat	T	A	3: 82,903,349 (GRCm38)	I122F	probably damaging	Het
Myl10	C	T	5: 136,697,942 (GRCm38)	Q106*	probably null	Het
Ncapd2	A	T	6: 125,171,697 (GRCm38)	Y1018N	possibly damaging	Het
Ndrg1	C	T	15: 66,943,087 (GRCm38)	W172*	probably null	Het
Nphs2	T	C	1: 156,326,131 (GRCm38)	M264T	probably damaging	Het
Nrxn3	A	T	12: 89,260,508 (GRCm38)	R677S	possibly damaging	Het
Nudt12	T	C	17: 59,007,672 (GRCm38)	T306A	probably benign	Het
Numb	A	G	12: 83,825,296 (GRCm38)		probably benign	Het
Olfr1385	A	T	11: 49,494,709 (GRCm38)	M59L	probably benign	Het
Olfr482	C	T	7: 108,095,054 (GRCm38)	C172Y	probably damaging	Het
Olfr63	T	A	17: 33,268,751 (GRCm38)	I9K	possibly damaging	Het
Pbld2	T	A	10: 63,047,482 (GRCm38)	D94E	probably benign	Het
Pkd1l3	C	A	8: 109,623,713 (GRCm38)	Q397K	probably benign	Het
Ppp4r3a	A	T	12: 101,058,619 (GRCm38)	L207H	probably damaging	Het
Ranbp2	T	A	10: 58,465,547 (GRCm38)	I674N	probably damaging	Het
Retnlg	G	T	16: 48,874,292 (GRCm38)	C101F	probably damaging	Het
Rif1	T	A	2: 52,103,622 (GRCm38)	I849N	probably damaging	Het
Serpinb9d	T	C	13: 33,198,031 (GRCm38)	I161T	possibly damaging	Het
Slc17a6	T	C	7: 51,666,023 (GRCm38)		probably benign	Het
Smg8	A	C	11: 87,085,988 (GRCm38)		probably null	Het
Spata31d1c	C	A	13: 65,035,593 (GRCm38)	N316K	probably benign	Het
Tlr1	A	G	5: 64,925,057 (GRCm38)	S726P	probably damaging	Het
Trim69	A	C	2: 122,173,155 (GRCm38)	D195A	probably benign	Het
Ttc16	T	G	2: 32,771,885 (GRCm38)		probably null	Het
Usp53	T	A	3: 122,953,183 (GRCm38)	M405L	probably benign	Het
Ywhag	G	A	5: 135,911,060 (GRCm38)	R227*	probably null	Het
Zfp335	G	T	2: 164,892,681 (GRCm38)		probably benign	Het
Zfp607a	T	C	7: 27,877,823 (GRCm38)	I106T	possibly damaging	Het
Zfp959	T	C	17: 55,897,613 (GRCm38)	S214P	possibly damaging	Het
Zfyve9	T	C	4: 108,689,209 (GRCm38)	M868V	possibly damaging	Het

Other mutations in Iars

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00697:Iars	APN	13	49,709,728 (GRCm38)	missense	probably damaging	1.00
IGL00764:Iars	APN	13	49,711,827 (GRCm38)	missense	probably benign	0.34
IGL01153:Iars	APN	13	49,711,805 (GRCm38)	missense	probably damaging	1.00
IGL01481:Iars	APN	13	49,728,698 (GRCm38)	missense	probably benign	0.00
IGL01596:Iars	APN	13	49,703,176 (GRCm38)	missense	probably benign
IGL01682:Iars	APN	13	49,709,658 (GRCm38)	missense	probably damaging	1.00
IGL01885:Iars	APN	13	49,691,499 (GRCm38)	missense	probably benign	0.25
IGL01907:Iars	APN	13	49,709,655 (GRCm38)	missense	probably damaging	1.00
IGL02023:Iars	APN	13	49,688,249 (GRCm38)	missense	probably damaging	1.00
IGL02121:Iars	APN	13	49,724,696 (GRCm38)	missense	probably benign	0.00
IGL02365:Iars	APN	13	49,691,499 (GRCm38)	missense	probably benign	0.25
IGL02704:Iars	APN	13	49,721,100 (GRCm38)	missense	probably damaging	1.00
IGL02838:Iars	APN	13	49,690,489 (GRCm38)	missense	possibly damaging	0.87
IGL02975:Iars	APN	13	49,704,849 (GRCm38)	missense	probably damaging	1.00
IGL02982:Iars	APN	13	49,709,709 (GRCm38)	missense	probably benign	0.00
IGL03034:Iars	APN	13	49,690,489 (GRCm38)	missense	possibly damaging	0.87
IGL03060:Iars	APN	13	49,690,447 (GRCm38)	critical splice acceptor site	probably null
IGL03156:Iars	APN	13	49,703,179 (GRCm38)	missense	possibly damaging	0.87
IGL03343:Iars	APN	13	49,724,747 (GRCm38)	missense	probably benign	0.12
gannett_peak	UTSW	13	49,708,421 (GRCm38)	missense	probably damaging	1.00
missouri	UTSW	13	49,688,276 (GRCm38)	missense	possibly damaging	0.82
spacex	UTSW	13	49,723,002 (GRCm38)	missense	possibly damaging	0.85
wind_river	UTSW	13	49,701,895 (GRCm38)	missense	probably damaging	1.00
R0054:Iars	UTSW	13	49,693,135 (GRCm38)	missense	probably damaging	1.00
R0054:Iars	UTSW	13	49,693,135 (GRCm38)	missense	probably damaging	1.00
R0184:Iars	UTSW	13	49,722,212 (GRCm38)	missense	probably benign	0.00
R0200:Iars	UTSW	13	49,726,202 (GRCm38)	missense	possibly damaging	0.62
R0356:Iars	UTSW	13	49,703,233 (GRCm38)	missense	probably benign	0.03
R0383:Iars	UTSW	13	49,732,342 (GRCm38)	missense	probably damaging	0.99
R0657:Iars	UTSW	13	49,702,519 (GRCm38)	missense	probably damaging	1.00
R1005:Iars	UTSW	13	49,687,445 (GRCm38)	missense	possibly damaging	0.94
R1427:Iars	UTSW	13	49,704,269 (GRCm38)	critical splice acceptor site	probably null
R1449:Iars	UTSW	13	49,733,710 (GRCm38)	missense	probably damaging	0.99
R1647:Iars	UTSW	13	49,723,002 (GRCm38)	missense	possibly damaging	0.85
R1648:Iars	UTSW	13	49,723,002 (GRCm38)	missense	possibly damaging	0.85
R1664:Iars	UTSW	13	49,711,775 (GRCm38)	missense	probably damaging	0.98
R1763:Iars	UTSW	13	49,723,077 (GRCm38)	critical splice donor site	probably null
R2192:Iars	UTSW	13	49,688,129 (GRCm38)	splice site	probably null
R2203:Iars	UTSW	13	49,722,675 (GRCm38)	missense	probably benign	0.00
R2357:Iars	UTSW	13	49,688,203 (GRCm38)	missense	probably damaging	1.00
R3724:Iars	UTSW	13	49,687,384 (GRCm38)	critical splice acceptor site	probably null
R4785:Iars	UTSW	13	49,724,663 (GRCm38)	missense	probably damaging	0.99
R4934:Iars	UTSW	13	49,717,984 (GRCm38)	missense	probably benign	0.17
R4999:Iars	UTSW	13	49,709,661 (GRCm38)	missense	probably damaging	1.00
R5048:Iars	UTSW	13	49,688,237 (GRCm38)	missense	probably damaging	0.99
R5268:Iars	UTSW	13	49,690,491 (GRCm38)	missense	probably damaging	1.00
R5394:Iars	UTSW	13	49,722,165 (GRCm38)	missense	probably damaging	1.00
R5486:Iars	UTSW	13	49,709,573 (GRCm38)	splice site	probably null
R5960:Iars	UTSW	13	49,724,637 (GRCm38)	missense	possibly damaging	0.68
R5972:Iars	UTSW	13	49,709,632 (GRCm38)	missense	possibly damaging	0.91
R5978:Iars	UTSW	13	49,722,993 (GRCm38)	missense	probably damaging	0.99
R6031:Iars	UTSW	13	49,705,831 (GRCm38)	missense	probably damaging	0.98
R6031:Iars	UTSW	13	49,705,831 (GRCm38)	missense	probably damaging	0.98
R6092:Iars	UTSW	13	49,708,421 (GRCm38)	missense	probably damaging	1.00
R6167:Iars	UTSW	13	49,722,714 (GRCm38)	missense	probably damaging	1.00
R6313:Iars	UTSW	13	49,708,445 (GRCm38)	missense	probably damaging	0.99
R6358:Iars	UTSW	13	49,727,143 (GRCm38)	missense	possibly damaging	0.67
R6385:Iars	UTSW	13	49,701,895 (GRCm38)	missense	probably damaging	1.00
R6403:Iars	UTSW	13	49,687,495 (GRCm38)	missense	probably damaging	1.00
R6575:Iars	UTSW	13	49,725,269 (GRCm38)	missense	probably damaging	1.00
R6675:Iars	UTSW	13	49,719,578 (GRCm38)	missense	probably damaging	0.99
R6957:Iars	UTSW	13	49,722,161 (GRCm38)	missense	probably damaging	1.00
R7207:Iars	UTSW	13	49,688,315 (GRCm38)	critical splice donor site	probably null
R7254:Iars	UTSW	13	49,723,078 (GRCm38)	critical splice donor site	probably null
R7354:Iars	UTSW	13	49,704,320 (GRCm38)	missense	probably benign
R7397:Iars	UTSW	13	49,728,677 (GRCm38)	missense	probably benign	0.00
R7696:Iars	UTSW	13	49,706,738 (GRCm38)	missense	probably damaging	1.00
R7799:Iars	UTSW	13	49,723,018 (GRCm38)	missense	probably damaging	1.00
R7828:Iars	UTSW	13	49,725,272 (GRCm38)	missense	probably benign
R8679:Iars	UTSW	13	49,703,199 (GRCm38)	unclassified	probably benign
R8768:Iars	UTSW	13	49,724,626 (GRCm38)	missense	probably damaging	0.99
R8797:Iars	UTSW	13	49,688,262 (GRCm38)	missense	probably benign	0.12
R8906:Iars	UTSW	13	49,728,701 (GRCm38)	missense	probably benign
R8990:Iars	UTSW	13	49,688,276 (GRCm38)	missense	possibly damaging	0.82
R9134:Iars	UTSW	13	49,701,847 (GRCm38)	missense	probably benign	0.00
R9137:Iars	UTSW	13	49,701,874 (GRCm38)	missense	probably benign
R9394:Iars	UTSW	13	49,730,060 (GRCm38)	missense	probably benign
R9668:Iars	UTSW	13	49,687,409 (GRCm38)	missense	probably damaging	0.98
R9741:Iars	UTSW	13	49,691,502 (GRCm38)	missense	probably damaging	0.99
Z1088:Iars	UTSW	13	49,721,088 (GRCm38)	missense	probably benign

Posted On

2016-08-02