Mutagenetix > Incidental Mutation

Incidental Mutation 'R5033:Iars2'

389324

Institutional Source

Beutler Lab

Gene Symbol

Iars2

Ensembl Gene

ENSMUSG00000026618

Gene Name

isoleucine-tRNA synthetase 2, mitochondrial

Synonyms

2010002H18Rik

MMRRC Submission

042624-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5033 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

185018839-185061615 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 185050125 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 453 (V453A)

Ref Sequence

ENSEMBL: ENSMUSP00000106601 (fasta)

Gene Model

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

AlphaFold

Q8BIJ6

Predicted Effect

probably benign
Transcript: ENSMUST00000027921
AA Change: V453A

PolyPhen 2 Score 0.099 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000027921
Gene: ENSMUSG00000026618
AA Change: V453A

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: V453A

PolyPhen 2 Score 0.655 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000106601
Gene: ENSMUSG00000026618
AA Change: V453A

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 benign
Transcript: ENSMUST00000110975
AA Change: V453A

PolyPhen 2 Score 0.164 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000106603
Gene: ENSMUSG00000026618
AA Change: V453A

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: ENSMUST00000153211

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000192375

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.4%
20x: 92.8%

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. 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: 88 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700012B07Rik	G	T	11: 109,684,980 (GRCm39)	C172*	probably null	Het
9930111J21Rik1	G	A	11: 48,838,533 (GRCm39)	R685W	probably damaging	Het
Arhgap10	A	T	8: 78,109,386 (GRCm39)	L399H	probably damaging	Het
Arih2	AGCCG	AG	9: 108,488,859 (GRCm39)		probably benign	Het
Atp13a2	A	G	4: 140,728,132 (GRCm39)	H575R	possibly damaging	Het
Bbof1	G	A	12: 84,458,044 (GRCm39)		probably null	Het
Bltp3a	A	G	17: 28,105,838 (GRCm39)	E788G	probably damaging	Het
Catsperg2	A	C	7: 29,409,559 (GRCm39)	Y545D	possibly damaging	Het
Cdc42bpa	T	A	1: 179,892,580 (GRCm39)	I248N	probably damaging	Het
Cdk11b	A	T	4: 155,733,282 (GRCm39)		probably benign	Het
Cfap46	C	A	7: 139,183,776 (GRCm39)	L90F	probably benign	Het
Cndp2	A	G	18: 84,688,954 (GRCm39)	L276P	possibly damaging	Het
Col3a1	A	C	1: 45,385,270 (GRCm39)	D129A	probably damaging	Het
Daam1	C	A	12: 71,993,294 (GRCm39)	H354Q	unknown	Het
Dnah5	T	A	15: 28,421,824 (GRCm39)	F3892Y	probably damaging	Het
Dnajb3	A	G	1: 88,132,745 (GRCm39)	V219A	possibly damaging	Het
Drd5	A	G	5: 38,477,544 (GRCm39)	H179R	probably damaging	Het
Dym	A	G	18: 75,252,232 (GRCm39)	N333D	possibly damaging	Het
Eif2b3	A	G	4: 116,909,933 (GRCm39)	D156G	probably damaging	Het
Emc1	A	G	4: 139,099,007 (GRCm39)	D830G	probably damaging	Het
F13a1	A	C	13: 37,172,830 (GRCm39)	I183M	probably damaging	Het
Fam136b-ps	T	A	15: 31,277,043 (GRCm39)		probably benign	Het
Fdft1	C	A	14: 63,400,853 (GRCm39)	K93N	probably damaging	Het
Garre1	C	T	7: 33,945,237 (GRCm39)	G336S	probably benign	Het
Gcc2	A	G	10: 58,114,628 (GRCm39)	D959G	probably damaging	Het
Gp2	A	G	7: 119,053,514 (GRCm39)	V149A	probably damaging	Het
Gpc1	G	A	1: 92,784,751 (GRCm39)	G308D	probably damaging	Het
Hdac9	A	T	12: 34,423,906 (GRCm39)	C587S	probably benign	Het
Hspg2	C	T	4: 137,246,251 (GRCm39)	R1010C	probably damaging	Het
Il1r1	T	G	1: 40,332,684 (GRCm39)	C121W	probably damaging	Het
Inhca	A	G	9: 103,156,613 (GRCm39)	V149A	probably benign	Het
Jazf1	A	G	6: 52,754,525 (GRCm39)	Y184H	probably damaging	Het
Kel	A	T	6: 41,675,989 (GRCm39)	Y234N	probably damaging	Het
Khk	G	A	5: 31,087,004 (GRCm39)	G186D	probably damaging	Het
Klf4	A	T	4: 55,530,301 (GRCm39)	M270K	probably benign	Het
Kmt2c	G	A	5: 25,519,706 (GRCm39)	L2135F	probably benign	Het
Krtap15-1	A	G	16: 88,626,044 (GRCm39)	Y37C	probably damaging	Het
Lars1	A	G	18: 42,347,841 (GRCm39)	F994S	possibly damaging	Het
Ldc1	C	T	4: 130,115,408 (GRCm39)		probably null	Het
Lrp8	T	C	4: 107,691,952 (GRCm39)		probably null	Het
Lrrc2	A	T	9: 110,809,987 (GRCm39)	D341V	probably damaging	Het
Map4k4	A	G	1: 40,046,662 (GRCm39)	K646R	probably damaging	Het
Mrps9	T	A	1: 42,934,491 (GRCm39)		probably null	Het
Or10ag60	T	A	2: 87,438,055 (GRCm39)	C108S	probably damaging	Het
Or11h6	T	A	14: 50,880,619 (GRCm39)	Y288N	probably damaging	Het
Or8c20	C	T	9: 38,260,924 (GRCm39)	H176Y	probably damaging	Het
Pcnt	A	T	10: 76,235,779 (GRCm39)	C1401S	possibly damaging	Het
Pdgfrb	A	T	18: 61,210,740 (GRCm39)	K749M	probably damaging	Het
Pigo	A	T	4: 43,019,412 (GRCm39)	W969R	probably null	Het
Pigr	A	T	1: 130,772,436 (GRCm39)	Y218F	probably damaging	Het
Pih1d1	A	G	7: 44,804,278 (GRCm39)		probably benign	Het
Pik3cg	A	T	12: 32,249,195 (GRCm39)		probably null	Het
Pik3r6	A	T	11: 68,424,294 (GRCm39)	K300*	probably null	Het
Pip5k1c	A	G	10: 81,141,084 (GRCm39)	D64G	probably damaging	Het
Piwil2	A	T	14: 70,659,042 (GRCm39)	I161K	possibly damaging	Het
Pou3f1	A	G	4: 124,552,449 (GRCm39)	E317G	probably damaging	Het
Prdm8	C	T	5: 98,333,071 (GRCm39)	Q213*	probably null	Het
Prpf6	T	A	2: 181,291,899 (GRCm39)	C739S	possibly damaging	Het
Psmc3	T	A	2: 90,884,953 (GRCm39)	S40T	probably benign	Het
Psmd3	A	T	11: 98,573,650 (GRCm39)	D32V	probably damaging	Het
Ptpro	T	A	6: 137,420,592 (GRCm39)	V1007D	probably damaging	Het
Rapgef6	A	T	11: 54,582,207 (GRCm39)	H1373L	possibly damaging	Het
Rnf207	A	C	4: 152,397,666 (GRCm39)	S328A	probably benign	Het
Ros1	C	T	10: 52,004,512 (GRCm39)		probably null	Het
Ryr2	T	A	13: 11,602,140 (GRCm39)	I4581F	possibly damaging	Het
Sacm1l	C	T	9: 123,415,464 (GRCm39)	R480W	probably damaging	Het
Sec16a	A	G	2: 26,309,661 (GRCm39)	V664A	probably benign	Het
Selenoo	T	A	15: 88,976,969 (GRCm39)	M207K	probably damaging	Het
Sh3tc2	G	A	18: 62,147,962 (GRCm39)		probably null	Het
Slc28a2b	T	A	2: 122,353,395 (GRCm39)		probably null	Het
Slco2b1	G	T	7: 99,309,256 (GRCm39)	Q692K	probably benign	Het
Slfn4	A	T	11: 83,077,623 (GRCm39)	D137V	probably damaging	Het
Srrm2	G	A	17: 24,039,592 (GRCm39)	A2175T	probably damaging	Het
Stard9	T	A	2: 120,523,880 (GRCm39)	C692S	probably benign	Het
Sulf2	T	A	2: 165,923,542 (GRCm39)	D559V	probably benign	Het
Tbpl2	T	C	2: 23,977,170 (GRCm39)	I283V	probably benign	Het
Tmem19	A	G	10: 115,195,666 (GRCm39)	F46S	probably benign	Het
Trp63	T	A	16: 25,582,056 (GRCm39)	Y35N	probably damaging	Het
Ttn	T	A	2: 76,716,786 (GRCm39)		probably benign	Het
Ube2z	A	T	11: 95,941,148 (GRCm39)	H331Q	probably benign	Het
Ubr1	C	T	2: 120,742,478 (GRCm39)		probably null	Het
Vmn1r235	A	T	17: 21,482,550 (GRCm39)	I292F	possibly damaging	Het
Vmn2r1	T	A	3: 64,012,501 (GRCm39)	D787E	probably damaging	Het
Vmn2r3	A	G	3: 64,167,220 (GRCm39)	V637A	probably benign	Het
Xpnpep1	C	A	19: 52,994,606 (GRCm39)	V341L	probably benign	Het
Yme1l1	A	G	2: 23,084,759 (GRCm39)	D619G	probably damaging	Het
Zfp597	G	A	16: 3,684,502 (GRCm39)	P85S	probably damaging	Het
Zscan20	A	G	4: 128,479,921 (GRCm39)	S857P	probably benign	Het

Other mutations in Iars2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00596:Iars2	APN	1	185,048,151 (GRCm39)	missense	probably benign	0.00
IGL00906:Iars2	APN	1	185,028,600 (GRCm39)	splice site	probably benign
IGL01287:Iars2	APN	1	185,028,625 (GRCm39)	missense	possibly damaging	0.90
IGL01814:Iars2	APN	1	185,034,972 (GRCm39)	nonsense	probably null
IGL02016:Iars2	APN	1	185,035,503 (GRCm39)	missense	probably damaging	0.99
IGL02995:Iars2	APN	1	185,035,498 (GRCm39)	missense	probably benign
IGL03002:Iars2	APN	1	185,055,013 (GRCm39)	splice site	probably null
IGL03248:Iars2	APN	1	185,023,629 (GRCm39)	unclassified	probably benign
R0304:Iars2	UTSW	1	185,019,353 (GRCm39)	missense	possibly damaging	0.77
R0711:Iars2	UTSW	1	185,054,585 (GRCm39)	splice site	probably benign
R0783:Iars2	UTSW	1	185,053,071 (GRCm39)	missense	probably damaging	1.00
R0990:Iars2	UTSW	1	185,050,824 (GRCm39)	missense	probably damaging	1.00
R1867:Iars2	UTSW	1	185,050,765 (GRCm39)	missense	probably benign	0.01
R1868:Iars2	UTSW	1	185,050,765 (GRCm39)	missense	probably benign	0.01
R1957:Iars2	UTSW	1	185,027,868 (GRCm39)	missense	possibly damaging	0.89
R2378:Iars2	UTSW	1	185,059,918 (GRCm39)	missense	probably damaging	1.00
R3784:Iars2	UTSW	1	185,019,328 (GRCm39)	missense	probably benign	0.17
R4061:Iars2	UTSW	1	185,035,583 (GRCm39)	missense	possibly damaging	0.85
R4334:Iars2	UTSW	1	185,035,591 (GRCm39)	missense	probably benign	0.35
R4708:Iars2	UTSW	1	185,021,554 (GRCm39)	missense	probably benign	0.00
R4723:Iars2	UTSW	1	185,048,176 (GRCm39)	missense	probably damaging	1.00
R4729:Iars2	UTSW	1	185,048,248 (GRCm39)	missense	possibly damaging	0.71
R4851:Iars2	UTSW	1	185,059,845 (GRCm39)	missense	probably damaging	0.99
R5215:Iars2	UTSW	1	185,026,966 (GRCm39)	missense	probably damaging	1.00
R5260:Iars2	UTSW	1	185,055,931 (GRCm39)	missense	probably damaging	1.00
R5286:Iars2	UTSW	1	185,055,318 (GRCm39)	intron	probably benign
R5614:Iars2	UTSW	1	185,021,705 (GRCm39)	missense	probably benign	0.00
R6659:Iars2	UTSW	1	185,020,273 (GRCm39)	missense	possibly damaging	0.76
R6838:Iars2	UTSW	1	185,061,342 (GRCm39)	missense	probably damaging	0.98
R7057:Iars2	UTSW	1	185,021,564 (GRCm39)	missense	probably benign	0.03
R7462:Iars2	UTSW	1	185,055,063 (GRCm39)	missense	probably damaging	1.00
R7690:Iars2	UTSW	1	185,053,194 (GRCm39)	missense	probably damaging	1.00
R8021:Iars2	UTSW	1	185,054,654 (GRCm39)	missense	probably benign	0.05
R8097:Iars2	UTSW	1	185,061,586 (GRCm39)	unclassified	probably benign
R8198:Iars2	UTSW	1	185,029,703 (GRCm39)	missense	probably benign	0.19
R8283:Iars2	UTSW	1	185,020,288 (GRCm39)	nonsense	probably null
R8543:Iars2	UTSW	1	185,019,341 (GRCm39)	missense	probably benign	0.00
R8710:Iars2	UTSW	1	185,027,783 (GRCm39)	missense	probably benign	0.13
R8713:Iars2	UTSW	1	185,023,615 (GRCm39)	missense	possibly damaging	0.58
R8856:Iars2	UTSW	1	185,028,621 (GRCm39)	missense	probably benign	0.10
R9206:Iars2	UTSW	1	185,050,146 (GRCm39)	missense	possibly damaging	0.83
R9304:Iars2	UTSW	1	185,055,400 (GRCm39)	nonsense	probably null
R9435:Iars2	UTSW	1	185,034,913 (GRCm39)	missense	probably damaging	1.00
R9634:Iars2	UTSW	1	185,027,727 (GRCm39)	makesense	probably null
Z1177:Iars2	UTSW	1	185,048,092 (GRCm39)	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- TTCAGCCCCATTACCGCCA -3'
(R):5'- GTTGGTGCCTCTGCCACC -3'

Sequencing Primer
(F):5'- CACAGACACATACTTTTTATGGTGG -3'
(R):5'- CCTCCACACCAGGCCTG -3'

Posted On

2016-06-06