Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02341:Ears2'

289105

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ears2

Ensembl Gene

ENSMUSG00000030871

Gene Name

glutamyl-tRNA synthetase 2, mitochondrial

Synonyms

3230401I01Rik

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL02341

Quality Score

Status

Chromosome

Chromosomal Location

121636436-121666486 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 121638987 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Valine at position 479 (A479V)

Ref Sequence

ENSEMBL: ENSMUSP00000033159 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000033159]

AlphaFold

Q9CXJ1

Predicted Effect

probably benign
Transcript: ENSMUST00000033159
AA Change: A479V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000033159
Gene: ENSMUSG00000030871
AA Change: A479V

Domain	Start	End	E-Value	Type
Pfam:tRNA-synt_1c	36	353	3.5e-88	PFAM
low complexity region	448	460	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000147397

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000151530

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: This gene encodes a putative member of the class I family of aminoacyl-tRNA synthetases. These enzymes play a critical role in protein biosynthesis by charging tRNAs with their cognate amino acids. This protein is encoded by the nuclear genome but is likely to be imported to the mitochondrion where it is thought to catalyze the ligation of glutamate to tRNA molecules. Mutations in a similar gene in human have been associated with combined oxidative phosphorylation deficiency 12 (COXPD12). [provided by RefSeq, Mar 2015]

Allele List at MGI

Other mutations in this stock

Total: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arid2	C	T	15: 96,270,066 (GRCm39)	S1393L	probably benign	Het
Bahcc1	T	A	11: 120,163,346 (GRCm39)	I548N	probably damaging	Het
Baiap3	A	T	17: 25,467,290 (GRCm39)	L405Q	possibly damaging	Het
Cacna1g	T	G	11: 94,352,978 (GRCm39)	Q349P	probably damaging	Het
Ccdc30	T	C	4: 119,213,978 (GRCm39)	T184A	possibly damaging	Het
Ccdc63	A	G	5: 122,251,261 (GRCm39)	I383T	probably benign	Het
Ccnk	A	G	12: 108,161,989 (GRCm39)	E298G	unknown	Het
Ccnt1	T	C	15: 98,444,664 (GRCm39)	E223G	possibly damaging	Het
Clcc1	T	A	3: 108,580,699 (GRCm39)	L333I	possibly damaging	Het
Cyp2b10	G	A	7: 25,610,667 (GRCm39)	R59Q	probably benign	Het
Cyp3a41b	T	A	5: 145,510,461 (GRCm39)	T138S	probably benign	Het
Dennd4a	C	T	9: 64,749,843 (GRCm39)	R145*	probably null	Het
Dnah8	A	T	17: 30,966,231 (GRCm39)	I2474F	probably damaging	Het
Dok1	T	C	6: 83,010,035 (GRCm39)	T25A	probably damaging	Het
Erc1	T	A	6: 119,571,934 (GRCm39)	I981F	possibly damaging	Het
Gm8730	A	G	8: 103,591,775 (GRCm39)		noncoding transcript	Het
Gm9962	C	T	7: 57,037,042 (GRCm39)		probably benign	Het
Has3	A	T	8: 107,600,637 (GRCm39)	Y33F	probably damaging	Het
Hk1	A	G	10: 62,120,159 (GRCm39)	S607P	possibly damaging	Het
Hlcs	T	A	16: 94,031,969 (GRCm39)	I612F	probably damaging	Het
Llgl2	T	A	11: 115,741,946 (GRCm39)	S663T	possibly damaging	Het
Lrriq1	T	C	10: 103,060,802 (GRCm39)	H100R	probably benign	Het
Lypd8l	T	C	11: 58,503,656 (GRCm39)	S17G	possibly damaging	Het
Magi2	T	A	5: 20,671,201 (GRCm39)	I678N	probably damaging	Het
Megf11	G	A	9: 64,451,902 (GRCm39)	G109S	probably damaging	Het
Morc2b	A	T	17: 33,356,281 (GRCm39)	I497K	probably damaging	Het
Mybpc2	A	C	7: 44,164,354 (GRCm39)	S404A	probably benign	Het
Mylip	A	G	13: 45,544,752 (GRCm39)	R59G	probably damaging	Het
Mylk3	A	T	8: 86,078,601 (GRCm39)	I501N	probably damaging	Het
Myo19	A	G	11: 84,778,871 (GRCm39)		probably benign	Het
Nat2	A	G	8: 67,954,370 (GRCm39)	Y160C	possibly damaging	Het
Nf1	C	T	11: 79,455,752 (GRCm39)	A2554V	probably benign	Het
Niban3	A	T	8: 72,056,443 (GRCm39)	N381I	possibly damaging	Het
Ninl	A	T	2: 150,786,525 (GRCm39)	C153*	probably null	Het
Nlrp5	C	T	7: 23,103,577 (GRCm39)	R15C	probably benign	Het
Nphp4	A	T	4: 152,639,926 (GRCm39)		probably benign	Het
Obscn	C	A	11: 59,026,651 (GRCm39)	R184L	probably benign	Het
Or6c202	T	A	10: 128,996,302 (GRCm39)	I184F	probably benign	Het
Or6c6c	A	T	10: 129,541,358 (GRCm39)	T204S	probably damaging	Het
Or6c8	A	T	10: 128,915,330 (GRCm39)	C167*	probably null	Het
Phip	A	T	9: 82,814,936 (GRCm39)	V262D	probably damaging	Het
Ptprg	T	A	14: 12,154,360 (GRCm38)	S694T	probably benign	Het
Reck	T	A	4: 43,925,160 (GRCm39)	D466E	probably damaging	Het
Rimbp2	G	T	5: 128,878,025 (GRCm39)	Y213*	probably null	Het
Scn2a	C	T	2: 65,518,721 (GRCm39)	T365M	probably damaging	Het
Scpep1	T	A	11: 88,835,314 (GRCm39)	T120S	probably benign	Het
Sp7	T	A	15: 102,267,657 (GRCm39)	T50S	possibly damaging	Het
Tbc1d1	A	G	5: 64,432,750 (GRCm39)	R304G	probably damaging	Het
Tiam1	A	G	16: 89,695,257 (GRCm39)	S67P	probably damaging	Het
Tjp1	G	A	7: 64,962,382 (GRCm39)	T1185I	probably damaging	Het
Tspan2	T	A	3: 102,672,529 (GRCm39)	I178N	probably damaging	Het
Tusc2	T	A	9: 107,442,109 (GRCm39)	*103R	probably null	Het
Uggt1	A	T	1: 36,203,600 (GRCm39)	*47R	probably null	Het
Unc13c	T	A	9: 73,840,492 (GRCm39)	I120F	possibly damaging	Het
Vcpip1	T	A	1: 9,795,175 (GRCm39)	K1065N	possibly damaging	Het
Zfp532	C	A	18: 65,757,849 (GRCm39)	P594Q	probably damaging	Het

Other mutations in Ears2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00514:Ears2	APN	7	121,638,985 (GRCm39)	nonsense	probably null
IGL00870:Ears2	APN	7	121,654,899 (GRCm39)	missense	probably damaging	1.00
IGL01434:Ears2	APN	7	121,662,311 (GRCm39)	splice site	probably benign
IGL01676:Ears2	APN	7	121,643,781 (GRCm39)	missense	probably benign
IGL02355:Ears2	APN	7	121,643,773 (GRCm39)	missense	probably benign	0.00
IGL02362:Ears2	APN	7	121,643,773 (GRCm39)	missense	probably benign	0.00
IGL02932:Ears2	APN	7	121,662,284 (GRCm39)	missense	probably damaging	1.00
PIT4453001:Ears2	UTSW	7	121,647,562 (GRCm39)	missense	probably benign	0.04
R0555:Ears2	UTSW	7	121,647,667 (GRCm39)	missense	probably benign	0.22
R0582:Ears2	UTSW	7	121,654,881 (GRCm39)	missense	probably benign	0.05
R0588:Ears2	UTSW	7	121,643,514 (GRCm39)	splice site	probably benign
R0733:Ears2	UTSW	7	121,647,352 (GRCm39)	missense	possibly damaging	0.83
R1316:Ears2	UTSW	7	121,645,905 (GRCm39)	missense	probably benign	0.00
R1916:Ears2	UTSW	7	121,643,801 (GRCm39)	missense	probably benign	0.01
R2862:Ears2	UTSW	7	121,662,163 (GRCm39)	missense	probably damaging	1.00
R4634:Ears2	UTSW	7	121,643,832 (GRCm39)	missense	probably benign	0.00
R4686:Ears2	UTSW	7	121,647,427 (GRCm39)	missense	probably damaging	1.00
R5177:Ears2	UTSW	7	121,643,683 (GRCm39)	intron	probably benign
R5275:Ears2	UTSW	7	121,647,421 (GRCm39)	missense	probably damaging	1.00
R5295:Ears2	UTSW	7	121,647,421 (GRCm39)	missense	probably damaging	1.00
R5385:Ears2	UTSW	7	121,643,600 (GRCm39)	missense	probably benign	0.36
R5386:Ears2	UTSW	7	121,643,600 (GRCm39)	missense	probably benign	0.36
R6510:Ears2	UTSW	7	121,662,217 (GRCm39)	missense	probably damaging	1.00
R6894:Ears2	UTSW	7	121,647,447 (GRCm39)	missense	probably damaging	1.00
R7828:Ears2	UTSW	7	121,647,563 (GRCm39)	missense	probably benign
R9350:Ears2	UTSW	7	121,643,786 (GRCm39)	nonsense	probably null
Z1176:Ears2	UTSW	7	121,654,933 (GRCm39)	missense	possibly damaging	0.81
Z1176:Ears2	UTSW	7	121,643,804 (GRCm39)	missense	probably damaging	0.98

Posted On

2015-04-16