Mutagenetix > Incidental Mutation

Incidental Mutation 'R6894:Ears2'

538220

Institutional Source

Beutler Lab

Gene Symbol

Ears2

Ensembl Gene

ENSMUSG00000030871

Gene Name

glutamyl-tRNA synthetase 2, mitochondrial

Synonyms

3230401I01Rik

MMRRC Submission

044988-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6894 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

121636436-121666486 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 121647447 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 279 (N279S)

Ref Sequence

ENSEMBL: ENSMUSP00000033159 (fasta)

Gene Model

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

AlphaFold

Q9CXJ1

Predicted Effect

probably damaging
Transcript: ENSMUST00000033159
AA Change: N279S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000033159
Gene: ENSMUSG00000030871
AA Change: N279S

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.2%
20x: 97.5%

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: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921509C19Rik	C	A	2: 151,315,227 (GRCm39)	L150F	probably damaging	Het
4930449I24Rik	G	A	5: 146,441,542 (GRCm39)	E230K	possibly damaging	Het
4930449I24Rik	A	T	5: 146,441,543 (GRCm39)	E230V	probably benign	Het
9430038I01Rik	A	G	7: 136,989,117 (GRCm39)	C93R	possibly damaging	Het
Aoc1l2	G	A	6: 48,907,596 (GRCm39)	A199T	probably damaging	Het
Apobec1	T	C	6: 122,568,201 (GRCm39)		probably benign	Het
Arl4c	T	A	1: 88,629,097 (GRCm39)	D97V	probably damaging	Het
Ash1l	A	G	3: 88,890,298 (GRCm39)	T726A	probably benign	Het
Asz1	A	C	6: 18,055,520 (GRCm39)	F359V	probably damaging	Het
Atr	T	A	9: 95,809,250 (GRCm39)	L1970H	probably damaging	Het
Baz2a	G	T	10: 127,959,450 (GRCm39)	A1322S	possibly damaging	Het
Cd209e	T	A	8: 3,903,569 (GRCm39)	I37F	possibly damaging	Het
Cd209f	T	C	8: 4,155,477 (GRCm39)	K37R	probably benign	Het
Cd5	G	C	19: 10,716,203 (GRCm39)	S3C	possibly damaging	Het
Clec16a	A	T	16: 10,462,718 (GRCm39)	I260F	probably damaging	Het
Cltc	A	T	11: 86,603,428 (GRCm39)	Y799*	probably null	Het
Cplane1	T	C	15: 8,216,852 (GRCm39)	L690P	probably damaging	Het
Csde1	G	A	3: 102,951,972 (GRCm39)	V258I	possibly damaging	Het
Dennd5a	G	T	7: 109,500,325 (GRCm39)	H909Q	probably damaging	Het
Dnah12	A	G	14: 26,456,904 (GRCm39)	D890G	probably damaging	Het
Dnah2	A	T	11: 69,375,086 (GRCm39)	M1379K	probably benign	Het
Dpp10	A	T	1: 123,264,593 (GRCm39)	I743N	probably damaging	Het
Dpp9	T	A	17: 56,495,321 (GRCm39)	T815S	probably damaging	Het
Ect2l	A	G	10: 18,045,128 (GRCm39)		probably null	Het
Eomes	C	G	9: 118,310,353 (GRCm39)	P288A	probably damaging	Het
Fat3	T	C	9: 15,909,072 (GRCm39)	D2310G	probably damaging	Het
Fignl2	T	C	15: 100,951,854 (GRCm39)	T143A	probably benign	Het
Gdf9	A	G	11: 53,327,646 (GRCm39)	K201E	possibly damaging	Het
Gfra3	C	T	18: 34,828,710 (GRCm39)	R228Q	probably damaging	Het
Grin1	A	T	2: 25,185,829 (GRCm39)	V876E	probably damaging	Het
Igkv12-41	A	C	6: 69,835,635 (GRCm39)	V39G	probably damaging	Het
Kat7	A	T	11: 95,174,910 (GRCm39)	M367K	possibly damaging	Het
Ly6d	T	C	15: 74,634,654 (GRCm39)	K33E	possibly damaging	Het
Lztfl1	T	C	9: 123,529,998 (GRCm39)	N273S	possibly damaging	Het
Macf1	T	A	4: 123,377,480 (GRCm39)	I1485F	possibly damaging	Het
Marchf10	G	T	11: 105,287,787 (GRCm39)	L172I	possibly damaging	Het
Mdn1	T	G	4: 32,748,614 (GRCm39)	S4220A	possibly damaging	Het
Muc16	A	G	9: 18,406,872 (GRCm39)	V8460A	possibly damaging	Het
Myh14	A	G	7: 44,282,936 (GRCm39)	F769L	probably damaging	Het
Myl10	G	C	5: 136,726,825 (GRCm39)	V70L	probably benign	Het
Mylk4	A	G	13: 32,905,998 (GRCm39)	L395P	probably damaging	Het
Nat8f6	A	T	6: 85,785,504 (GRCm39)	L215*	probably null	Het
Nell2	T	C	15: 95,244,768 (GRCm39)	D443G	probably damaging	Het
Nkx6-3	A	G	8: 23,647,632 (GRCm39)	K197R	probably benign	Het
Nt5c3	A	T	6: 56,859,958 (GRCm39)	L293*	probably null	Het
Ntrk1	A	T	3: 87,690,109 (GRCm39)	V429D	probably damaging	Het
Obscn	A	G	11: 59,023,508 (GRCm39)	V623A	probably benign	Het
Or2o1	T	C	11: 49,051,186 (GRCm39)	F115S	probably benign	Het
Or4c1	A	G	2: 89,133,837 (GRCm39)	L33S	probably damaging	Het
Or5ac21	A	G	16: 59,124,142 (GRCm39)	T209A	probably damaging	Het
Or5p5	C	T	7: 107,414,271 (GRCm39)	T160I	probably benign	Het
Or6c74	T	C	10: 129,870,178 (GRCm39)	S228P	probably damaging	Het
Or8k22	A	T	2: 86,163,295 (GRCm39)	I135N	probably damaging	Het
Pate3	T	A	9: 35,557,969 (GRCm39)	D33V	probably damaging	Het
Pcnx1	T	A	12: 82,034,747 (GRCm39)	I1843N	probably damaging	Het
Pla2g4f	A	T	2: 120,134,077 (GRCm39)	I503N	probably benign	Het
Prkg1	C	A	19: 30,602,174 (GRCm39)	E361*	probably null	Het
Proca1	A	G	11: 78,085,613 (GRCm39)		probably benign	Het
Prss38	G	T	11: 59,263,850 (GRCm39)	H287Q	probably benign	Het
Ptpdc1	T	C	13: 48,744,114 (GRCm39)	E169G	probably benign	Het
Ptpn21	T	C	12: 98,681,440 (GRCm39)	S65G	probably damaging	Het
Rfx6	A	T	10: 51,592,135 (GRCm39)	H177L	probably damaging	Het
Slc20a2	G	A	8: 23,050,609 (GRCm39)	G276D	possibly damaging	Het
Spag6l	A	T	16: 16,601,802 (GRCm39)	L159I	probably damaging	Het
Spata31f1a	G	A	4: 42,850,291 (GRCm39)	P622S	probably benign	Het
St3gal1	A	G	15: 66,983,195 (GRCm39)	V187A	possibly damaging	Het
Stk33	T	A	7: 108,935,269 (GRCm39)	E174D	possibly damaging	Het
Stxbp5	A	T	10: 9,660,105 (GRCm39)	V730E	probably benign	Het
Tmprss15	A	T	16: 78,872,702 (GRCm39)	L168*	probably null	Het
Tnrc18	A	T	5: 142,745,804 (GRCm39)	M1323K	unknown	Het
Tpr	T	C	1: 150,312,598 (GRCm39)	V1932A	probably benign	Het
Trak2	A	G	1: 58,950,892 (GRCm39)	S432P	probably damaging	Het
Ttn	A	T	2: 76,738,534 (GRCm39)	F4002I	probably benign	Het
Txndc11	G	A	16: 10,906,009 (GRCm39)	T507I	probably damaging	Het
Usp12	G	A	5: 146,691,349 (GRCm39)	T135I	possibly damaging	Het
Vit	T	A	17: 78,934,187 (GRCm39)	Y596*	probably null	Het
Vmn1r32	A	T	6: 66,530,345 (GRCm39)	Y144N	possibly damaging	Het
Vmn2r80	G	T	10: 79,005,438 (GRCm39)	L358F	probably benign	Het
Zfp382	T	G	7: 29,825,261 (GRCm39)	S38A	probably benign	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
IGL02341:Ears2	APN	7	121,638,987 (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
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

Predicted Primers

PCR Primer
(F):5'- AACCTGTCCAAGATCACGTGATAG -3'
(R):5'- AAAAGTGACGGCTTTCCCAC -3'

Sequencing Primer
(F):5'- TCACGTGATAGGTGCAATGC -3'
(R):5'- ACCTACCACCTAGCCTGTGTG -3'

Posted On

2018-11-06