Mutagenetix > Incidental Mutation

Incidental Mutation 'R8710:Iars2'

669476

Institutional Source

Beutler Lab

Gene Symbol

Iars2

Ensembl Gene

ENSMUSG00000026618

Gene Name

isoleucine-tRNA synthetase 2, mitochondrial

Synonyms

2010002H18Rik

MMRRC Submission

068564-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R8710 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

185018839-185061615 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 185027783 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glycine at position 715 (V715G)

Ref Sequence

ENSEMBL: ENSMUSP00000027921 (fasta)

Gene Model

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

AlphaFold

Q8BIJ6

Predicted Effect

probably benign
Transcript: ENSMUST00000027921
AA Change: V715G

PolyPhen 2 Score 0.125 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000027921
Gene: ENSMUSG00000026618
AA Change: V715G

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
AA Change: V715G

PolyPhen 2 Score 0.202 (Sensitivity: 0.92; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000106603
Gene: ENSMUSG00000026618
AA Change: V715G

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.4%

Validation Efficiency

99% (68/69)

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: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb4	A	G	5: 9,005,495 (GRCm39)	N1126S	probably damaging	Het
Ablim2	C	T	5: 36,030,518 (GRCm39)	A581V	possibly damaging	Het
Agpat5	T	A	8: 18,928,105 (GRCm39)	D223E	possibly damaging	Het
Anks3	A	C	16: 4,775,976 (GRCm39)	Y75*	probably null	Het
Ano5	T	G	7: 51,243,419 (GRCm39)	D847E	probably damaging	Het
Asb6	G	T	2: 30,717,072 (GRCm39)	T51K	probably benign	Het
Bahcc1	A	G	11: 120,174,953 (GRCm39)	E1702G	probably damaging	Het
Bend7	A	G	2: 4,767,925 (GRCm39)	M294V	probably benign	Het
Cadm1	T	A	9: 47,759,466 (GRCm39)	D392E	probably damaging	Het
Camkmt	T	C	17: 85,421,277 (GRCm39)		probably benign	Het
Cd300a	A	G	11: 114,785,501 (GRCm39)	T149A	probably benign	Het
Cd69	A	T	6: 129,246,573 (GRCm39)	W153R	possibly damaging	Het
Cdc25c	T	A	18: 34,882,666 (GRCm39)		probably benign	Het
Clnk	A	C	5: 38,931,940 (GRCm39)	C40W	possibly damaging	Het
Cthrc1	T	A	15: 38,947,821 (GRCm39)	L180Q	probably damaging	Het
Cyld	A	G	8: 89,436,523 (GRCm39)	N271S	probably damaging	Het
Dnah14	T	C	1: 181,517,876 (GRCm39)	I2070T	probably benign	Het
Dnah17	A	C	11: 117,932,973 (GRCm39)	L3595R	probably damaging	Het
Edrf1	A	G	7: 133,245,495 (GRCm39)	Y211C	probably damaging	Het
Efcab6	A	G	15: 83,902,849 (GRCm39)	I167T	probably benign	Het
Elavl3	A	T	9: 21,937,849 (GRCm39)	Y148N	probably damaging	Het
Ermardl2	A	T	17: 15,209,194 (GRCm39)	N342I	probably damaging	Het
Fam83c	A	G	2: 155,671,642 (GRCm39)	S598P	probably benign	Het
Gm38119	ACTGCCACCACTGCTGCCACAGCAGCCACTGCTGCCACCACTGCTGCCACAGCAGCCACTGCTGCCACCACTACTGCCACAGCAGCCACTGCTGCCACCACTGCTGCCACA	ACTGCCACCACTGCTGCCACAGCAGCCACTGCTGCCACCACTACTGCCACAGCAGCCACTGCTGCCACCACTGCTGCCACA	3: 92,645,197 (GRCm39)		probably benign	Het
Helb	A	G	10: 119,941,872 (GRCm39)	L272P	probably damaging	Het
Iqgap2	T	G	13: 95,796,756 (GRCm39)	N1133H	probably benign	Het
Kifc5b	T	A	17: 27,139,880 (GRCm39)	M43K	probably damaging	Het
Krtap7-1	T	A	16: 89,305,008 (GRCm39)	Y48F	possibly damaging	Het
Lag3	G	A	6: 124,885,408 (GRCm39)	T324I	probably damaging	Het
Mapkapk2	C	A	1: 130,986,448 (GRCm39)	A97S	possibly damaging	Het
Mettl4	A	G	17: 95,041,072 (GRCm39)	S361P	probably damaging	Het
Myh4	A	G	11: 67,143,158 (GRCm39)	T1029A	probably benign	Het
Nsl1	C	A	1: 190,795,420 (GRCm39)	A62D	probably benign	Het
Oas1e	T	A	5: 120,930,027 (GRCm39)	K164*	probably null	Het
Obsl1	A	G	1: 75,469,326 (GRCm39)	F1205S	probably benign	Het
Or14j2	G	T	17: 37,885,540 (GRCm39)	A258E	probably benign	Het
Or1e1b-ps1	G	A	11: 73,845,694 (GRCm39)	M59I	possibly damaging	Het
Or8c15	C	T	9: 38,121,066 (GRCm39)	A237V	possibly damaging	Het
Or8g18	T	A	9: 39,149,306 (GRCm39)	Y138F	probably benign	Het
Pald1	A	G	10: 61,183,232 (GRCm39)	F334S	probably benign	Het
Pikfyve	A	G	1: 65,255,155 (GRCm39)	E325G	possibly damaging	Het
Plekha8	A	G	6: 54,599,245 (GRCm39)	T215A	probably benign	Het
Ptprq	T	C	10: 107,411,919 (GRCm39)	R1816G	possibly damaging	Het
Ralgps1	G	A	2: 33,035,433 (GRCm39)	L472F	probably damaging	Het
Rasal1	A	T	5: 120,801,002 (GRCm39)	T221S	probably benign	Het
Rfx6	A	G	10: 51,601,501 (GRCm39)	T607A	probably damaging	Het
Rnf214	T	A	9: 45,778,748 (GRCm39)		probably benign	Het
Rtca	A	T	3: 116,291,303 (GRCm39)	Y226N	probably benign	Het
Sash1	T	A	10: 8,656,285 (GRCm39)	N236Y	possibly damaging	Het
Skint11	A	G	4: 114,051,951 (GRCm39)	I100V	probably benign	Het
Skint5	A	T	4: 113,483,787 (GRCm39)	S948R	unknown	Het
Slc25a13	A	T	6: 6,114,238 (GRCm39)	Y279N	probably benign	Het
Slc5a2	T	C	7: 127,864,966 (GRCm39)	L33P	probably damaging	Het
Slco1a5	A	T	6: 142,198,828 (GRCm39)	V279E	probably benign	Het
Ssh3	G	T	19: 4,313,833 (GRCm39)	H475Q	probably benign	Het
Tapt1	A	G	5: 44,351,743 (GRCm39)	S107P	probably benign	Het
Tjp2	T	C	19: 24,072,796 (GRCm39)	E1166G	probably damaging	Het
Tll1	A	G	8: 64,577,940 (GRCm39)	L89P	possibly damaging	Het
Tmc4	G	T	7: 3,678,463 (GRCm39)	T123N	probably benign	Het
Tmem139	A	G	6: 42,241,021 (GRCm39)	D202G	probably damaging	Het
Trim35	T	C	14: 66,545,367 (GRCm39)	S313P	probably damaging	Het
Ttc23l	A	G	15: 10,540,021 (GRCm39)	I154T	probably damaging	Het
Ttc9c	T	C	19: 8,795,860 (GRCm39)	T60A	probably benign	Het
Wdfy3	G	T	5: 102,030,349 (GRCm39)	N2386K	probably damaging	Het
Wdpcp	C	A	11: 21,610,924 (GRCm39)	Q49K	probably benign	Het
Xrn1	A	T	9: 95,884,285 (GRCm39)	Y867F		Het
Zfp423	C	T	8: 88,507,549 (GRCm39)	E932K	possibly damaging	Het
Zfp592	T	C	7: 80,673,321 (GRCm39)	F95S	probably damaging	Het
Zfp644	T	G	5: 106,782,997 (GRCm39)	N1095H	probably damaging	Het
Zfp983	A	T	17: 21,880,234 (GRCm39)	N54I	probably damaging	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
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
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'- GCAAAGTCACTGAGTACACGG -3'
(R):5'- GACTCCAGTTTCTGAAGGGGAAC -3'

Sequencing Primer
(F):5'- CCTCCCTAGTGCTGAGATTAAAGG -3'
(R):5'- GGGAACTTTAGTAAAGCCTTTGTTCC -3'

Posted On

2021-04-30