Mutagenetix > Incidental Mutation

Incidental Mutation 'R8021:Iars2'

617336

Institutional Source

Beutler Lab

Gene Symbol

Iars2

Ensembl Gene

ENSMUSG00000026618

Gene Name

isoleucine-tRNA synthetase 2, mitochondrial

Synonyms

2010002H18Rik

MMRRC Submission

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R8021 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

185284726-185329396 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 185322457 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Leucine at position 337 (I337L)

Ref Sequence

ENSEMBL: ENSMUSP00000027921 (fasta)

Gene Model

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

AlphaFold

Q8BIJ6

Predicted Effect

probably benign
Transcript: ENSMUST00000027921
AA Change: I337L

PolyPhen 2 Score 0.052 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000027921
Gene: ENSMUSG00000026618
AA Change: I337L

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: ENSMUST00000110974
AA Change: I337L

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000106601
Gene: ENSMUSG00000026618
AA Change: I337L

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: I337L

PolyPhen 2 Score 0.090 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000106603
Gene: ENSMUSG00000026618
AA Change: I337L

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: 99.3%

Validation Efficiency

97% (74/76)

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: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1810010H24Rik	A	G	11: 107,025,927	I12V	unknown	Het
9130011E15Rik	C	T	19: 45,956,741		probably null	Het
A630010A05Rik	C	T	16: 14,589,246	T13I		Het
Acsm5	A	G	7: 119,542,393	E537G	possibly damaging	Het
Adam25	C	A	8: 40,754,759	A354E	probably damaging	Het
Adamts3	T	C	5: 89,683,184	K1004E	possibly damaging	Het
Ap3d1	C	A	10: 80,714,301	V699L	probably benign	Het
Arel1	T	G	12: 84,934,958	H216P	possibly damaging	Het
Armc12	T	A	17: 28,530,905	F8I	probably benign	Het
Ascc3	T	A	10: 50,731,648	M1416K	probably benign	Het
Catsperb	A	C	12: 101,588,063	N672T	probably benign	Het
Ccdc30	T	C	4: 119,352,679	H291R	probably benign	Het
Cd33	A	G	7: 43,528,838	V371A	unknown	Het
Cpt1b	A	T	15: 89,421,426	M362K	probably benign	Het
Dusp5	T	A	19: 53,529,498	S61T	probably benign	Het
Eogt	T	G	6: 97,134,330	D190A	probably damaging	Het
Fat3	T	A	9: 15,999,109	I1866F	probably damaging	Het
Fer1l4	T	A	2: 156,022,591	I1668F	probably damaging	Het
Foxn3	A	T	12: 99,388,902	M1K	probably null	Het
Frs3	T	A	17: 47,703,114	V244E	probably damaging	Het
Gm8765	A	G	13: 50,701,094	N256S	possibly damaging	Het
Grik1	C	T	16: 87,914,222	V832I		Het
Gtf2ird2	T	A	5: 134,203,334	V242E	probably benign	Het
Gtpbp2	C	T	17: 46,164,269	R97C	possibly damaging	Het
Habp2	T	A	19: 56,314,053	V263E	probably benign	Het
Ifi204	T	C	1: 173,759,353		probably benign	Het
Itih2	T	C	2: 10,105,652	T543A	probably benign	Het
Kdm2b	A	G	5: 122,932,919	S372P	probably damaging	Het
Kit	T	A	5: 75,615,491	V311E	possibly damaging	Het
Kmt2c	C	G	5: 25,287,119	V4230L	possibly damaging	Het
Lao1	T	C	4: 118,968,477	I498T	probably damaging	Het
Lrp1	G	T	10: 127,548,346	D3641E	possibly damaging	Het
Mapk8ip1	A	T	2: 92,386,415	S477T	possibly damaging	Het
Mast3	C	T	8: 70,788,252	G218S	probably benign	Het
Mical1	T	C	10: 41,482,724	V546A	probably damaging	Het
Nck2	T	C	1: 43,554,260	V209A	probably benign	Het
Ndufs4	A	G	13: 114,307,815		probably null	Het
Nek3	C	T	8: 22,157,190	V139M	probably damaging	Het
Olfr1417	T	C	19: 11,828,892	I45V	probably benign	Het
Olfr863-ps1	A	C	9: 19,942,079	Y120*	probably null	Het
Olfr877	T	A	9: 37,855,296	H159Q	probably damaging	Het
Olfr994	A	T	2: 85,430,652	M59K	probably damaging	Het
Otog	A	T	7: 46,267,342	N901I	probably damaging	Het
Pclo	A	C	5: 14,539,784	Q699H	unknown	Het
Pcnx	C	T	12: 81,918,819	R59*	probably null	Het
Pde12	A	T	14: 26,665,699	Y551*	probably null	Het
Pigg	A	G	5: 108,319,939	D268G	probably damaging	Het
Ppp1r21	A	G	17: 88,549,507	D130G	probably benign	Het
Psip1	T	C	4: 83,459,955	T435A	possibly damaging	Het
Rad54l2	T	C	9: 106,719,641	S189G	probably benign	Het
Rgs14	T	C	13: 55,383,756	C498R	probably damaging	Het
Ripply3	C	A	16: 94,328,510	A5E	probably benign	Het
Rps6ka4	T	C	19: 6,830,409	D676G	probably benign	Het
Rsbn1	T	C	3: 103,928,582	L312S	possibly damaging	Het
Secisbp2	T	A	13: 51,665,628	*415R	probably null	Het
Sephs1	T	A	2: 4,906,623	F336Y	probably benign	Het
Setdb2	A	T	14: 59,423,384	Y103*	probably null	Het
Slit2	T	A	5: 48,302,492	C1371*	probably null	Het
Stab2	C	T	10: 86,905,539	A1239T	possibly damaging	Het
Taf4b	T	A	18: 14,804,524	V218E	probably damaging	Het
Tars2	T	C	3: 95,747,514	N393S	probably benign	Het
Tbc1d30	A	G	10: 121,267,543	M528T	probably benign	Het
Tchp	A	G	5: 114,718,417	E363G	probably damaging	Het
Tec	T	A	5: 72,757,469	N568I	probably benign	Het
Ticam1	A	G	17: 56,270,089	S669P	unknown	Het
Tnk1	A	G	11: 69,854,984	S372P	probably benign	Het
Tnpo2	G	A	8: 85,055,206	A847T	probably damaging	Het
Tsc1	A	T	2: 28,686,889	I1068F	possibly damaging	Het
Ttc14	T	A	3: 33,809,121	Y559*	probably null	Het
Ttc41	C	A	10: 86,733,714	T652N	probably benign	Het
Tut1	T	A	19: 8,955,509	S69T	probably benign	Het
Uck1	T	C	2: 32,259,917	S40G	probably benign	Het
Vmn2r76	G	A	7: 86,225,750	T673I	probably damaging	Het
Vps13d	G	T	4: 145,148,675	P1760H		Het
Zbp1	T	C	2: 173,209,210	N289S	possibly damaging	Het
Zc3hav1l	C	A	6: 38,297,947		probably benign	Het
Zzef1	A	T	11: 72,823,416	D244V	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
R4723:Iars2	UTSW	1	185315979	missense	probably damaging	1.00
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
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
R9634:Iars2	UTSW	1	185295530	makesense	probably null
Z1177:Iars2	UTSW	1	185315895	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- ACGGATGTCGGATCTGTTTCAAC -3'
(R):5'- AGAAGATGCCCTTTGGAGACC -3'

Sequencing Primer
(F):5'- CGGATCTGTTTCAACTTACAATGGG -3'
(R):5'- AGAAGATGCCCTTTGGAGACCTTTAG -3'

Posted On

2020-01-23