Mutagenetix > Incidental Mutation

Incidental Mutation 'R5215:Iars2'

403388

Institutional Source

Beutler Lab

Gene Symbol

Iars2

Ensembl Gene

ENSMUSG00000026618

Gene Name

isoleucine-tRNA synthetase 2, mitochondrial

Synonyms

2010002H18Rik

MMRRC Submission

042788-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5215 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

185018839-185061615 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 185026966 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Arginine at position 761 (H761R)

Ref Sequence

ENSEMBL: ENSMUSP00000027921 (fasta)

Gene Model

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

AlphaFold

Q8BIJ6

Predicted Effect

probably damaging
Transcript: ENSMUST00000027921
AA Change: H761R

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000027921
Gene: ENSMUSG00000026618
AA Change: H761R

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

probably benign
Transcript: ENSMUST00000110975

SMART Domains

Protein: ENSMUSP00000106603
Gene: ENSMUSG00000026618

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

Meta Mutation Damage Score

0.2573

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.5%
20x: 95.8%

Validation Efficiency

100% (79/79)

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: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Alas1	C	A	9: 106,120,574 (GRCm39)	A73S	probably benign	Het
Aldoart2	G	A	12: 55,612,204 (GRCm39)	R43Q	probably benign	Het
Ano4	T	C	10: 89,153,165 (GRCm39)	H49R	possibly damaging	Het
Atic	T	C	1: 71,603,666 (GRCm39)	S161P	probably damaging	Het
Atp6v1c2	T	C	12: 17,341,659 (GRCm39)	E244G	probably benign	Het
Cd164l2	C	A	4: 132,948,789 (GRCm39)	L42I	unknown	Het
Cdc42ep2	T	C	19: 5,968,238 (GRCm39)	R156G	probably benign	Het
Cdc45	C	T	16: 18,614,647 (GRCm39)	R205H	probably damaging	Het
Cdk5	T	A	5: 24,624,459 (GRCm39)	N265I	probably benign	Het
Cfap69	G	T	5: 5,639,133 (GRCm39)	N262K	possibly damaging	Het
Chd6	C	T	2: 160,791,873 (GRCm39)	V2495M	probably damaging	Het
Cps1	T	A	1: 67,205,539 (GRCm39)	F521I	possibly damaging	Het
Crb2	A	G	2: 37,683,765 (GRCm39)	E1089G	probably benign	Het
Decr1	T	C	4: 15,929,795 (GRCm39)	D166G	probably damaging	Het
Dhodh	G	A	8: 110,332,975 (GRCm39)		probably benign	Het
Dnaaf5	G	A	5: 139,147,632 (GRCm39)	V399I	probably benign	Het
Dnah11	T	C	12: 118,121,096 (GRCm39)	T526A	probably benign	Het
Drosha	T	C	15: 12,885,219 (GRCm39)		probably benign	Het
Elfn2	T	A	15: 78,558,401 (GRCm39)	I49F	probably damaging	Het
Gabra1	T	C	11: 42,045,655 (GRCm39)	T152A	probably damaging	Het
Gigyf2	C	A	1: 87,292,988 (GRCm39)	T85K	probably damaging	Het
Gimap8	A	T	6: 48,628,017 (GRCm39)	Y258F	possibly damaging	Het
Glmn	A	G	5: 107,709,752 (GRCm39)	C351R	probably benign	Het
Gm10032	T	C	14: 67,029,998 (GRCm39)		noncoding transcript	Het
Gorasp2	G	A	2: 70,519,598 (GRCm39)	A328T	probably benign	Het
Grin1	A	T	2: 25,193,919 (GRCm39)	H392Q	probably benign	Het
Gzmn	A	G	14: 56,405,319 (GRCm39)	V55A	probably damaging	Het
Herc4	T	A	10: 63,124,876 (GRCm39)	S497T	probably benign	Het
Hrc	A	T	7: 44,985,515 (GRCm39)	D222V	probably damaging	Het
Jmjd1c	T	A	10: 67,076,480 (GRCm39)	D2101E	possibly damaging	Het
Kcng1	C	T	2: 168,105,053 (GRCm39)	M264I	probably benign	Het
Klra14-ps	C	A	6: 130,134,646 (GRCm39)		noncoding transcript	Het
Krtap5-3	T	A	7: 141,755,974 (GRCm39)	C270*	probably null	Het
Lama3	A	G	18: 12,710,957 (GRCm39)	H3164R	probably damaging	Het
Lcor	T	C	19: 41,574,371 (GRCm39)	I1042T	probably damaging	Het
Mdn1	T	C	4: 32,741,418 (GRCm39)	M3840T	possibly damaging	Het
Mtor	A	T	4: 148,538,440 (GRCm39)	H166L	probably benign	Het
Mx1	T	C	16: 97,249,560 (GRCm39)	N556D	possibly damaging	Het
Oca2	A	T	7: 55,945,246 (GRCm39)	R285*	probably null	Het
Or12d13	T	A	17: 37,647,704 (GRCm39)	I140F	probably benign	Het
Or2at1	A	G	7: 99,416,717 (GRCm39)	E116G	probably damaging	Het
Or4k39	T	C	2: 111,239,631 (GRCm39)		noncoding transcript	Het
Or56a3b	G	A	7: 104,775,771 (GRCm39)	H246Y	probably damaging	Het
Or8g33	A	T	9: 39,337,919 (GRCm39)	Y149*	probably null	Het
Pan3	A	G	5: 147,391,915 (GRCm39)		probably null	Het
Pard3	G	A	8: 128,104,745 (GRCm39)	V496M	probably damaging	Het
Pdcd2l	A	T	7: 33,892,314 (GRCm39)	V185D	possibly damaging	Het
Pgghg	T	C	7: 140,526,477 (GRCm39)	V623A	possibly damaging	Het
Pigu	C	A	2: 155,177,249 (GRCm39)		probably benign	Het
Pkmyt1	G	A	17: 23,951,566 (GRCm39)	R40Q	probably benign	Het
Prag1	G	A	8: 36,567,043 (GRCm39)	A65T	probably benign	Het
Prkdc	C	A	16: 15,589,985 (GRCm39)	T2616N	possibly damaging	Het
Prpf8	G	A	11: 75,391,030 (GRCm39)	E1360K	probably benign	Het
Ptprt	C	T	2: 162,120,084 (GRCm39)	V128M	probably damaging	Het
Rp1l1	C	T	14: 64,267,462 (GRCm39)	S1016L	probably benign	Het
Rprd1a	G	T	18: 24,621,257 (GRCm39)	D307E	probably damaging	Het
Slc11a1	A	T	1: 74,422,936 (GRCm39)		probably benign	Het
Slc22a16	T	A	10: 40,457,386 (GRCm39)	M209K	probably damaging	Het
Slf2	T	G	19: 44,936,476 (GRCm39)	L707R	probably damaging	Het
Son	T	A	16: 91,453,563 (GRCm39)	M770K	probably damaging	Het
Taf6l	T	C	19: 8,755,417 (GRCm39)		probably benign	Het
Tbc1d2	C	A	4: 46,614,006 (GRCm39)	V692L	probably benign	Het
Tnpo3	C	T	6: 29,582,152 (GRCm39)		probably benign	Het
Txndc16	A	T	14: 45,448,597 (GRCm39)		probably benign	Het
Ubr1	T	C	2: 120,734,525 (GRCm39)	K1125R	probably benign	Het
Vmn2r9	A	G	5: 108,994,351 (GRCm39)	S433P	probably benign	Het
Zc3h12a	A	G	4: 125,020,706 (GRCm39)	S46P	probably benign	Het
Zwilch	T	G	9: 64,054,156 (GRCm39)	I490L	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
R5033:Iars2	UTSW	1	185,050,125 (GRCm39)	missense	possibly damaging	0.65
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'- TGGTCATCGTAAACTGTGTGAAC -3'
(R):5'- CCGTGTACTCAGTGACTTTGC -3'

Sequencing Primer
(F):5'- CATCGTAAACTGTGTGAACGTAGTG -3'
(R):5'- CTCAGTGACTTTGCAAGCTAGATTCG -3'

Posted On

2016-07-22