Mutagenetix > Incidental Mutation

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

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
Adgrv1	T	C	13: 81,433,525 (GRCm38)	D4800G	probably benign	Het
Akna	T	C	4: 63,387,032 (GRCm38)	D499G	probably benign	Het
Arid1b	A	C	17: 5,337,290 (GRCm38)	I1673L	probably benign	Het
Bcr	T	A	10: 75,175,329 (GRCm38)	M24K	probably benign	Het
Bsn	A	G	9: 108,112,655 (GRCm38)	V1966A	probably benign	Het
Ccdc39	T	C	3: 33,813,078 (GRCm38)	N928S	possibly damaging	Het
Cd109	CATTTATTTATTTATTTATTTATTTATTTATTTAT	CATTTATTTATTTATTTATTTATTTATTTATTTATTTAT	9: 78,712,500 (GRCm38)		probably benign	Het
Cdc6	G	A	11: 98,908,831 (GRCm38)		probably null	Het
Cfap97d2	A	T	8: 13,735,937 (GRCm38)	N69I	probably damaging	Het
Cmtm1	C	T	8: 104,293,675 (GRCm38)	A371T	probably damaging	Het
Cmtm7	A	C	9: 114,763,391 (GRCm38)	V46G	possibly damaging	Het
Cmtr1	A	G	17: 29,687,157 (GRCm38)		probably null	Het
Col5a3	T	C	9: 20,809,591 (GRCm38)	H149R	unknown	Het
Coro7	T	G	16: 4,631,994 (GRCm38)	Q634P	probably benign	Het
Crym	A	G	7: 120,201,075 (GRCm38)		probably null	Het
Csmd3	A	T	15: 47,669,160 (GRCm38)	F2546L	probably benign	Het
Dmap1	T	C	4: 117,676,039 (GRCm38)	T273A	probably benign	Het
Dnah1	T	C	14: 31,272,942 (GRCm38)	Y2786C	probably damaging	Het
Echs1	A	C	7: 140,110,648 (GRCm38)		probably benign	Het
Edem3	T	A	1: 151,804,698 (GRCm38)	F525I	possibly damaging	Het
Exosc3	T	C	4: 45,319,642 (GRCm38)	I127V	probably benign	Het
Fam193a	A	G	5: 34,420,786 (GRCm38)	D208G	probably benign	Het
Farp2	T	C	1: 93,580,899 (GRCm38)	V773A	probably benign	Het
Gas6	A	G	8: 13,466,848 (GRCm38)	V550A	probably damaging	Het
Gkn3	C	T	6: 87,383,525 (GRCm38)	A163T	probably damaging	Het
Gm2423	A	G	13: 13,232,376 (GRCm38)		noncoding transcript	Het
Grin1	T	C	2: 25,294,470 (GRCm38)	S911G	probably benign	Het
Hkdc1	T	C	10: 62,400,354 (GRCm38)	I470V	probably benign	Het
Hsdl2	T	A	4: 59,593,270 (GRCm38)		probably benign	Het
Ikbkb	A	T	8: 22,669,607 (GRCm38)	M455K	probably benign	Het
Keap1	G	T	9: 21,231,410 (GRCm38)	H516Q	probably benign	Het
Klk1b27	A	T	7: 44,056,532 (GRCm38)	I220F	probably damaging	Het
Knop1	G	A	7: 118,855,864 (GRCm38)		probably benign	Het
Lhcgr	T	C	17: 88,742,602 (GRCm38)	T499A	probably benign	Het
Lrch3	A	T	16: 32,988,484 (GRCm38)		probably null	Het
Lrrc2	G	A	9: 110,970,160 (GRCm38)		probably null	Het
Lrrk2	T	C	15: 91,764,759 (GRCm38)	L1652P	probably damaging	Het
Mbl1	T	C	14: 41,154,558 (GRCm38)	V71A	possibly damaging	Het
Med8	T	A	4: 118,411,801 (GRCm38)	M1K	probably null	Het
Mfsd2b	A	G	12: 4,868,992 (GRCm38)	L88P	probably benign	Het
Mkrn2	T	A	6: 115,611,850 (GRCm38)	C185S	probably damaging	Het
Myo1d	A	G	11: 80,779,841 (GRCm38)		probably benign	Het
Napg	T	G	18: 62,992,492 (GRCm38)		probably null	Het
Ncor1	A	G	11: 62,378,612 (GRCm38)	M253T	probably benign	Het
Oas3	T	C	5: 120,766,256 (GRCm38)	T518A	unknown	Het
Obox3-ps8	A	G	17: 36,453,144 (GRCm38)		noncoding transcript	Het
Opn5	A	T	17: 42,607,200 (GRCm38)	M57K	probably damaging	Het
Or10a3n	A	T	7: 108,893,821 (GRCm38)	F195L	probably benign	Het
Or13j1	T	C	4: 43,705,785 (GRCm38)	K261R	probably damaging	Het
Or52p1	T	C	7: 104,618,489 (GRCm38)	V270A	possibly damaging	Het
Pde2a	C	G	7: 101,494,618 (GRCm38)	P148R	possibly damaging	Het
Prss56	C	T	1: 87,185,337 (GRCm38)	L158F	possibly damaging	Het
Psmg3	G	A	5: 139,826,370 (GRCm38)		probably benign	Het
Rnase9	C	T	14: 51,039,444 (GRCm38)	G26R	probably damaging	Het
Skint4	T	C	4: 112,118,236 (GRCm38)	V131A	possibly damaging	Het
Slc10a4	T	A	5: 73,012,055 (GRCm38)	V341E	probably damaging	Het
Slc16a14	T	C	1: 84,913,020 (GRCm38)	Y188C	probably damaging	Het
Slc7a1	G	T	5: 148,335,440 (GRCm38)	P476T	probably damaging	Het
Smchd1	A	T	17: 71,436,747 (GRCm38)	C474*	probably null	Het
Smurf1	A	T	5: 144,893,184 (GRCm38)	D336E	probably damaging	Het
Sox30	G	A	11: 45,984,765 (GRCm38)	S448N	probably benign	Het
Spag11a	G	A	8: 19,159,382 (GRCm38)	V63I	possibly damaging	Het
Sprr1b	T	G	3: 92,437,293 (GRCm38)	K92T	probably damaging	Het
Stam2	T	C	2: 52,720,950 (GRCm38)	Y20C	probably benign	Het
Sult2b1	T	A	7: 45,742,065 (GRCm38)	Y97F	probably damaging	Het
Tecpr2	C	T	12: 110,932,976 (GRCm38)	P593S	probably benign	Het
Tek	T	C	4: 94,799,160 (GRCm38)	V170A	possibly damaging	Het
Tiam2	A	G	17: 3,450,317 (GRCm38)	Y891C	probably benign	Het
Tmem220	A	G	11: 67,029,993 (GRCm38)	T75A	possibly damaging	Het
Traf3	T	G	12: 111,262,036 (GRCm38)	D560E	probably damaging	Het
Txlnb	A	G	10: 17,799,267 (GRCm38)	H56R	probably benign	Het
Vmn2r98	A	T	17: 19,066,340 (GRCm38)	N367Y	probably benign	Het
Vnn3	A	G	10: 23,851,691 (GRCm38)	I36M	possibly damaging	Het
Zbtb7a	G	A	10: 81,144,440 (GRCm38)	R156H	probably damaging	Het

Other mutations in Iars2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00596:Iars2	APN	1	185,315,954 (GRCm38)	missense	probably benign	0.00
IGL00906:Iars2	APN	1	185,296,403 (GRCm38)	splice site	probably benign
IGL01287:Iars2	APN	1	185,296,428 (GRCm38)	missense	possibly damaging	0.90
IGL01814:Iars2	APN	1	185,302,775 (GRCm38)	nonsense	probably null
IGL02016:Iars2	APN	1	185,303,306 (GRCm38)	missense	probably damaging	0.99
IGL02995:Iars2	APN	1	185,303,301 (GRCm38)	missense	probably benign
IGL03002:Iars2	APN	1	185,322,816 (GRCm38)	splice site	probably null
IGL03248:Iars2	APN	1	185,291,432 (GRCm38)	unclassified	probably benign
R0304:Iars2	UTSW	1	185,287,156 (GRCm38)	missense	possibly damaging	0.77
R0711:Iars2	UTSW	1	185,322,388 (GRCm38)	splice site	probably benign
R0783:Iars2	UTSW	1	185,320,874 (GRCm38)	missense	probably damaging	1.00
R0990:Iars2	UTSW	1	185,318,627 (GRCm38)	missense	probably damaging	1.00
R1867:Iars2	UTSW	1	185,318,568 (GRCm38)	missense	probably benign	0.01
R1868:Iars2	UTSW	1	185,318,568 (GRCm38)	missense	probably benign	0.01
R1957:Iars2	UTSW	1	185,295,671 (GRCm38)	missense	possibly damaging	0.89
R2378:Iars2	UTSW	1	185,327,721 (GRCm38)	missense	probably damaging	1.00
R3784:Iars2	UTSW	1	185,287,131 (GRCm38)	missense	probably benign	0.17
R4061:Iars2	UTSW	1	185,303,386 (GRCm38)	missense	possibly damaging	0.85
R4334:Iars2	UTSW	1	185,303,394 (GRCm38)	missense	probably benign	0.35
R4708:Iars2	UTSW	1	185,289,357 (GRCm38)	missense	probably benign	0.00
R4729:Iars2	UTSW	1	185,316,051 (GRCm38)	missense	possibly damaging	0.71
R4851:Iars2	UTSW	1	185,327,648 (GRCm38)	missense	probably damaging	0.99
R5033:Iars2	UTSW	1	185,317,928 (GRCm38)	missense	possibly damaging	0.65
R5215:Iars2	UTSW	1	185,294,769 (GRCm38)	missense	probably damaging	1.00
R5260:Iars2	UTSW	1	185,323,734 (GRCm38)	missense	probably damaging	1.00
R5286:Iars2	UTSW	1	185,323,121 (GRCm38)	intron	probably benign
R5614:Iars2	UTSW	1	185,289,508 (GRCm38)	missense	probably benign	0.00
R6659:Iars2	UTSW	1	185,288,076 (GRCm38)	missense	possibly damaging	0.76
R6838:Iars2	UTSW	1	185,329,145 (GRCm38)	missense	probably damaging	0.98
R7057:Iars2	UTSW	1	185,289,367 (GRCm38)	missense	probably benign	0.03
R7462:Iars2	UTSW	1	185,322,866 (GRCm38)	missense	probably damaging	1.00
R7690:Iars2	UTSW	1	185,320,997 (GRCm38)	missense	probably damaging	1.00
R8021:Iars2	UTSW	1	185,322,457 (GRCm38)	missense	probably benign	0.05
R8097:Iars2	UTSW	1	185,329,389 (GRCm38)	unclassified	probably benign
R8198:Iars2	UTSW	1	185,297,506 (GRCm38)	missense	probably benign	0.19
R8283:Iars2	UTSW	1	185,288,091 (GRCm38)	nonsense	probably null
R8543:Iars2	UTSW	1	185,287,144 (GRCm38)	missense	probably benign	0.00
R8710:Iars2	UTSW	1	185,295,586 (GRCm38)	missense	probably benign	0.13
R8713:Iars2	UTSW	1	185,291,418 (GRCm38)	missense	possibly damaging	0.58
R8856:Iars2	UTSW	1	185,296,424 (GRCm38)	missense	probably benign	0.10
R9206:Iars2	UTSW	1	185,317,949 (GRCm38)	missense	possibly damaging	0.83
R9304:Iars2	UTSW	1	185,323,203 (GRCm38)	nonsense	probably null
R9435:Iars2	UTSW	1	185,302,716 (GRCm38)	missense	probably damaging	1.00
R9634:Iars2	UTSW	1	185,295,530 (GRCm38)	makesense	probably null
Z1177:Iars2	UTSW	1	185,315,895 (GRCm38)	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