Mutagenetix > Incidental Mutations

Incidental Mutation 'R4723:Iars2'

354577

Institutional Source

Beutler Lab

Gene Symbol

Iars2

Ensembl Gene

ENSMUSG00000026618

Gene Name

isoleucine-tRNA synthetase 2, mitochondrial

Synonyms

2010002H18Rik

MMRRC Submission

041959-MU

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R4723 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

185284726-185329396 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 185315979 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 519 (Y519H)

Ref Sequence

ENSEMBL: ENSMUSP00000106603 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000027921] [ENSMUST00000110974] [ENSMUST00000110975]

AlphaFold

Q8BIJ6

Predicted Effect

probably damaging
Transcript: ENSMUST00000027921
AA Change: Y519H

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000027921
Gene: ENSMUSG00000026618
AA Change: Y519H

Domain	Start	End	E-Value	Type
low complexity region	7	25	N/A	INTRINSIC
Pfam:tRNA-synt_1	87	712	3.6e-172	PFAM
Pfam:tRNA-synt_1g	112	268	7e-15	PFAM
Pfam:tRNA-synt_1_2	334	462	3.8e-7	PFAM
Pfam:Anticodon_1	756	920	1.3e-27	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000083628

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000083647

Predicted Effect

possibly damaging
Transcript: ENSMUST00000110974
AA Change: Y519H

PolyPhen 2 Score 0.758 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000106601
Gene: ENSMUSG00000026618
AA Change: Y519H

Domain	Start	End	E-Value	Type
low complexity region	7	25	N/A	INTRINSIC
Pfam:tRNA-synt_1	87	552	2e-130	PFAM
Pfam:tRNA-synt_1g	113	269	2.2e-17	PFAM
Pfam:tRNA-synt_1_2	293	462	9e-10	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000110975
AA Change: Y519H

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000106603
Gene: ENSMUSG00000026618
AA Change: Y519H

Domain	Start	End	E-Value	Type
low complexity region	7	25	N/A	INTRINSIC
Pfam:tRNA-synt_1	87	712	1.2e-171	PFAM
Pfam:tRNA-synt_1g	113	269	3.4e-17	PFAM
Pfam:tRNA-synt_1_2	293	462	1.4e-9	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000192375

Meta Mutation Damage Score

0.3993

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.6%
20x: 93.3%

Validation Efficiency

94% (77/82)

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. Two forms of isoleucine-tRNA synthetase exist, a cytoplasmic form and a mitochondrial form. This gene encodes the mitochondrial isoleucine-tRNA synthetase which belongs to the class-I aminoacyl-tRNA synthetase family. [provided by RefSeq, Dec 2014]

Allele List at MGI

Other mutations in this stock

Total: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932443I19Rik	A	T	8: 13,735,937	N69I	probably damaging	Het
Adgrv1	T	C	13: 81,433,525	D4800G	probably benign	Het
Akna	T	C	4: 63,387,032	D499G	probably benign	Het
Arid1b	A	C	17: 5,337,290	I1673L	probably benign	Het
Bcr	T	A	10: 75,175,329	M24K	probably benign	Het
Bsn	A	G	9: 108,112,655	V1966A	probably benign	Het
Ccdc39	T	C	3: 33,813,078	N928S	possibly damaging	Het
Cd109	CATTTATTTATTTATTTATTTATTTATTTATTTAT	CATTTATTTATTTATTTATTTATTTATTTATTTATTTAT	9: 78,712,500		probably benign	Het
Cdc6	G	A	11: 98,908,831		probably null	Het
Cmtm1	C	T	8: 104,293,675	A371T	probably damaging	Het
Cmtm7	A	C	9: 114,763,391	V46G	possibly damaging	Het
Cmtr1	A	G	17: 29,687,157		probably null	Het
Col5a3	T	C	9: 20,809,591	H149R	unknown	Het
Coro7	T	G	16: 4,631,994	Q634P	probably benign	Het
Crym	A	G	7: 120,201,075		probably null	Het
Csmd3	A	T	15: 47,669,160	F2546L	probably benign	Het
Dmap1	T	C	4: 117,676,039	T273A	probably benign	Het
Dnah1	T	C	14: 31,272,942	Y2786C	probably damaging	Het
Echs1	A	C	7: 140,110,648		probably benign	Het
Edem3	T	A	1: 151,804,698	F525I	possibly damaging	Het
Exosc3	T	C	4: 45,319,642	I127V	probably benign	Het
Fam193a	A	G	5: 34,420,786	D208G	probably benign	Het
Farp2	T	C	1: 93,580,899	V773A	probably benign	Het
Gas6	A	G	8: 13,466,848	V550A	probably damaging	Het
Gkn3	C	T	6: 87,383,525	A163T	probably damaging	Het
Gm2423	A	G	13: 13,232,376		noncoding transcript	Het
Grin1	T	C	2: 25,294,470	S911G	probably benign	Het
Hkdc1	T	C	10: 62,400,354	I470V	probably benign	Het
Hsdl2	T	A	4: 59,593,270		probably benign	Het
Ikbkb	A	T	8: 22,669,607	M455K	probably benign	Het
Keap1	G	T	9: 21,231,410	H516Q	probably benign	Het
Klk1b27	A	T	7: 44,056,532	I220F	probably damaging	Het
Knop1	G	A	7: 118,855,864		probably benign	Het
Lhcgr	T	C	17: 88,742,602	T499A	probably benign	Het
Lrch3	A	T	16: 32,988,484		probably null	Het
Lrrc2	G	A	9: 110,970,160		probably null	Het
Lrrk2	T	C	15: 91,764,759	L1652P	probably damaging	Het
Mbl1	T	C	14: 41,154,558	V71A	possibly damaging	Het
Med8	T	A	4: 118,411,801	M1K	probably null	Het
Mfsd2b	A	G	12: 4,868,992	L88P	probably benign	Het
Mkrn2	T	A	6: 115,611,850	C185S	probably damaging	Het
Myo1d	A	G	11: 80,779,841		probably benign	Het
Napg	T	G	18: 62,992,492		probably null	Het
Ncor1	A	G	11: 62,378,612	M253T	probably benign	Het
Oas3	T	C	5: 120,766,256	T518A	unknown	Het
Obox3-ps8	A	G	17: 36,453,144		noncoding transcript	Het
Olfr519	A	T	7: 108,893,821	F195L	probably benign	Het
Olfr656	T	C	7: 104,618,489	V270A	possibly damaging	Het
Olfr71	T	C	4: 43,705,785	K261R	probably damaging	Het
Opn5	A	T	17: 42,607,200	M57K	probably damaging	Het
Pde2a	C	G	7: 101,494,618	P148R	possibly damaging	Het
Prss56	C	T	1: 87,185,337	L158F	possibly damaging	Het
Psmg3	G	A	5: 139,826,370		probably benign	Het
Rnase9	C	T	14: 51,039,444	G26R	probably damaging	Het
Skint4	T	C	4: 112,118,236	V131A	possibly damaging	Het
Slc10a4	T	A	5: 73,012,055	V341E	probably damaging	Het
Slc16a14	T	C	1: 84,913,020	Y188C	probably damaging	Het
Slc7a1	G	T	5: 148,335,440	P476T	probably damaging	Het
Smchd1	A	T	17: 71,436,747	C474*	probably null	Het
Smurf1	A	T	5: 144,893,184	D336E	probably damaging	Het
Sox30	G	A	11: 45,984,765	S448N	probably benign	Het
Spag11a	G	A	8: 19,159,382	V63I	possibly damaging	Het
Sprr1b	T	G	3: 92,437,293	K92T	probably damaging	Het
Stam2	T	C	2: 52,720,950	Y20C	probably benign	Het
Sult2b1	T	A	7: 45,742,065	Y97F	probably damaging	Het
Tecpr2	C	T	12: 110,932,976	P593S	probably benign	Het
Tek	T	C	4: 94,799,160	V170A	possibly damaging	Het
Tiam2	A	G	17: 3,450,317	Y891C	probably benign	Het
Tmem220	A	G	11: 67,029,993	T75A	possibly damaging	Het
Traf3	T	G	12: 111,262,036	D560E	probably damaging	Het
Txlnb	A	G	10: 17,799,267	H56R	probably benign	Het
Vmn2r98	A	T	17: 19,066,340	N367Y	probably benign	Het
Vnn3	A	G	10: 23,851,691	I36M	possibly damaging	Het
Zbtb7a	G	A	10: 81,144,440	R156H	probably damaging	Het

Other mutations in Iars2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00596:Iars2	APN	1	185315954	missense	probably benign	0.00
IGL00906:Iars2	APN	1	185296403	splice site	probably benign
IGL01287:Iars2	APN	1	185296428	missense	possibly damaging	0.90
IGL01814:Iars2	APN	1	185302775	nonsense	probably null
IGL02016:Iars2	APN	1	185303306	missense	probably damaging	0.99
IGL02995:Iars2	APN	1	185303301	missense	probably benign
IGL03002:Iars2	APN	1	185322816	splice site	probably null
IGL03248:Iars2	APN	1	185291432	unclassified	probably benign
R0304:Iars2	UTSW	1	185287156	missense	possibly damaging	0.77
R0711:Iars2	UTSW	1	185322388	splice site	probably benign
R0783:Iars2	UTSW	1	185320874	missense	probably damaging	1.00
R0990:Iars2	UTSW	1	185318627	missense	probably damaging	1.00
R1867:Iars2	UTSW	1	185318568	missense	probably benign	0.01
R1868:Iars2	UTSW	1	185318568	missense	probably benign	0.01
R1957:Iars2	UTSW	1	185295671	missense	possibly damaging	0.89
R2378:Iars2	UTSW	1	185327721	missense	probably damaging	1.00
R3784:Iars2	UTSW	1	185287131	missense	probably benign	0.17
R4061:Iars2	UTSW	1	185303386	missense	possibly damaging	0.85
R4334:Iars2	UTSW	1	185303394	missense	probably benign	0.35
R4708:Iars2	UTSW	1	185289357	missense	probably benign	0.00
R4729:Iars2	UTSW	1	185316051	missense	possibly damaging	0.71
R4851:Iars2	UTSW	1	185327648	missense	probably damaging	0.99
R5033:Iars2	UTSW	1	185317928	missense	possibly damaging	0.65
R5215:Iars2	UTSW	1	185294769	missense	probably damaging	1.00
R5260:Iars2	UTSW	1	185323734	missense	probably damaging	1.00
R5286:Iars2	UTSW	1	185323121	intron	probably benign
R5614:Iars2	UTSW	1	185289508	missense	probably benign	0.00
R6659:Iars2	UTSW	1	185288076	missense	possibly damaging	0.76
R6838:Iars2	UTSW	1	185329145	missense	probably damaging	0.98
R7057:Iars2	UTSW	1	185289367	missense	probably benign	0.03
R7462:Iars2	UTSW	1	185322866	missense	probably damaging	1.00
R7690:Iars2	UTSW	1	185320997	missense	probably damaging	1.00
R8021:Iars2	UTSW	1	185322457	missense	probably benign	0.05
R8097:Iars2	UTSW	1	185329389	unclassified	probably benign
R8198:Iars2	UTSW	1	185297506	missense	probably benign	0.19
R8283:Iars2	UTSW	1	185288091	nonsense	probably null
R8543:Iars2	UTSW	1	185287144	missense	probably benign	0.00
R8710:Iars2	UTSW	1	185295586	missense	probably benign	0.13
R8713:Iars2	UTSW	1	185291418	missense	possibly damaging	0.58
R8856:Iars2	UTSW	1	185296424	missense	probably benign	0.10
R9206:Iars2	UTSW	1	185317949	missense	possibly damaging	0.83
R9304:Iars2	UTSW	1	185323203	nonsense	probably null
R9435:Iars2	UTSW	1	185302716	missense	probably damaging	1.00
Z1177:Iars2	UTSW	1	185315895	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- CAGCCTGGACTTCATCATGAAAG -3'
(R):5'- TGGTCAGACACTCAGAACGG -3'

Sequencing Primer
(F):5'- TGGACTTCATCATGAAAGGCCATC -3'
(R):5'- GTCAGACACTCAGAACGGAGAAC -3'

Posted On

2015-10-21