Mutagenetix > Incidental Mutations

Incidental Mutation 'R4859:Dars2'

372291

Institutional Source

Beutler Lab

Gene Symbol

Dars2

Ensembl Gene

ENSMUSG00000026709

Gene Name

aspartyl-tRNA synthetase 2 (mitochondrial)

Synonyms

5830468K18Rik

MMRRC Submission

042470-MU

Accession Numbers

Ncbi RefSeq: NM_172644.3; MGI: 2442510

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R4859 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

161040601-161070658 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 161044990 bp

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 547 (L547P)

Ref Sequence

ENSEMBL: ENSMUSP00000041851 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000035430]

Predicted Effect

probably damaging
Transcript: ENSMUST00000035430
AA Change: L547P

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000041851
Gene: ENSMUSG00000026709
AA Change: L547P

Domain	Start	End	E-Value	Type
Pfam:tRNA_anti-codon	65	148	7e-10	PFAM
Pfam:tRNA-synt_2	165	607	1.2e-90	PFAM
Pfam:GAD	355	451	2e-13	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000160591

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000160759

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000161748

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000162654

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000195700

Meta Mutation Damage Score

0.9230

Coding Region Coverage

1x: 98.9%
3x: 98.1%
10x: 95.5%
20x: 89.5%

Validation Efficiency

100% (112/112)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene belongs to the class-II aminoacyl-tRNA synthetase family. It is a mitochondrial enzyme that specifically aminoacylates aspartyl-tRNA. Mutations in this gene are associated with leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation (LBSL). [provided by RefSeq, Nov 2009]

Allele List at MGI

All alleles(5) : Targeted(2) Gene trapped(3)

Other mutations in this stock

Total: 86 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4931440F15Rik	G	T	11: 29,825,178	A93E	probably damaging	Het
Adam25	T	A	8: 40,754,543	V282E	probably benign	Het
Adam26b	T	C	8: 43,520,259	T569A	possibly damaging	Het
Adam6a	A	G	12: 113,545,989	N661D	probably damaging	Het
Adck1	G	A	12: 88,441,095	A199T	probably benign	Het
Adhfe1	A	G	1: 9,558,213	Y270C	probably damaging	Het
Aldh16a1	C	T	7: 45,147,307	R256H	probably benign	Het
Ap5z1	T	C	5: 142,473,993	M466T	possibly damaging	Het
Aspm	C	T	1: 139,469,393	L908F	probably damaging	Het
Atp8b2	T	A	3: 89,945,980	T743S	probably benign	Het
Bag2	G	T	1: 33,746,941	T100K	probably damaging	Het
Camk2a	A	G	18: 60,943,174		probably benign	Het
Ccdc158	A	G	5: 92,633,403	Y848H	probably damaging	Het
Ccp110	T	G	7: 118,725,430	V725G	possibly damaging	Het
Cdh6	A	G	15: 13,051,332	V405A	probably benign	Het
Ces2g	T	C	8: 104,967,462		probably null	Het
Cfap157	A	G	2: 32,777,542	F510L	probably benign	Het
Chd3	A	T	11: 69,359,896	M669K	possibly damaging	Het
Cnot10	C	T	9: 114,627,464	A168T	probably damaging	Het
Crybg1	A	G	10: 43,992,569	V1371A	probably damaging	Het
Dis3	A	G	14: 99,087,790	C483R	probably damaging	Het
Dnah7b	T	A	1: 46,356,602	L3888Q	probably damaging	Het
Dpysl2	A	T	14: 66,829,439	Y182N	probably damaging	Het
Eif4g1	T	A	16: 20,682,173	F509L	probably benign	Het
Evc	T	C	5: 37,300,909	T85A	probably damaging	Het
Fam196b	A	G	11: 34,403,154	S399G	probably benign	Het
Farsb	T	C	1: 78,467,972	T283A	probably benign	Het
Fgf14	C	A	14: 124,192,433	R30L	possibly damaging	Het
Gbe1	T	C	16: 70,478,401	L363P	probably damaging	Het
Gcg	A	G	2: 62,476,845	V124A	probably damaging	Het
Glb1l	A	G	1: 75,200,319		probably benign	Het
Gm11757	A	G	4: 73,887,220	S351P	probably damaging	Het
Gm5431	T	C	11: 48,889,582	E449G	probably damaging	Het
Gon4l	T	C	3: 88,895,348	S1089P	probably benign	Het
Hgd	T	C	16: 37,588,749	L25P	probably damaging	Het
Hnf1a	T	C	5: 114,955,252	H318R	possibly damaging	Het
Hsd17b7	A	C	1: 169,967,257	V71G	possibly damaging	Het
Hydin	T	C	8: 110,506,494	S1742P	possibly damaging	Het
Kank2	T	C	9: 21,779,782	E552G	probably benign	Het
Kcnq4	C	A	4: 120,716,613	R217L	probably damaging	Het
Klrg2	T	C	6: 38,627,605	*201W	probably null	Het
Kndc1	T	C	7: 139,921,905	S953P	probably benign	Het
Lama2	TTTGCGCATT	TTT	10: 27,043,643		probably null	Het
Lonp1	A	G	17: 56,626,587	V96A	probably benign	Het
Mgat4e	T	C	1: 134,541,740	K189E	possibly damaging	Het
Msh2	G	A	17: 87,718,759	V722I	possibly damaging	Het
N4bp2	T	C	5: 65,825,298	Y1632H	probably damaging	Het
Nlrc4	T	G	17: 74,436,037	K862T	probably damaging	Het
Notch4	A	T	17: 34,587,180	Q1750L	probably damaging	Het
Obscn	C	T	11: 59,082,023	V2066I	possibly damaging	Het
Olfr1031	T	C	2: 85,992,731	S305P	probably damaging	Het
Olfr1211	T	A	2: 88,930,283	I11L	probably benign	Het
Olfr1307	A	T	2: 111,944,811	I215N	probably damaging	Het
Olfr1396	T	C	11: 49,113,166	K187E	probably damaging	Het
Olfr607	A	T	7: 103,461,036	Y57*	probably null	Het
Pde7a	T	A	3: 19,241,491		probably benign	Het
Pign	A	T	1: 105,648,167	Y249*	probably null	Het
Ppp1r17	A	T	6: 56,026,464	E87D	probably damaging	Het
Prss3	T	A	6: 41,373,923	Q211L	probably damaging	Het
Rapgef6	A	G	11: 54,636,163	E413G	probably benign	Het
Rnf150	A	G	8: 82,864,083	H25R	probably damaging	Het
Scamp2	T	C	9: 57,581,651		probably null	Het
Scap	T	A	9: 110,374,342		probably benign	Het
Sdc2	A	C	15: 33,032,456	K175N	probably damaging	Het
Serpinb6d	T	A	13: 33,667,564		probably null	Het
Sh3tc2	A	G	18: 62,013,093	N1181S	probably benign	Het
Slc44a2	T	C	9: 21,348,145	I46T	probably damaging	Het
Slfn8	A	G	11: 83,017,714	M1T	probably null	Het
Slitrk6	T	C	14: 110,751,883	T131A	probably damaging	Het
Soga3	A	C	10: 29,150,394	M491L	probably benign	Het
Spata1	C	G	3: 146,469,774	D326H	probably damaging	Het
Tbck	T	G	3: 132,801,527	S753R	probably benign	Het
Tdp1	A	G	12: 99,909,811	I340M	probably benign	Het
Tmprss6	T	A	15: 78,446,677	Y50F	probably damaging	Het
Trank1	T	A	9: 111,365,010	S701T	probably benign	Het
Trbv17	A	T	6: 41,163,289	N26I	probably benign	Het
Trip12	A	T	1: 84,793,810	S248T	probably damaging	Het
Vmn2r53	T	G	7: 12,601,403	Q110P	probably damaging	Het
Vmn2r75	A	G	7: 86,148,403	V734A	probably benign	Het
Wfdc11	A	T	2: 164,665,495	M14K	probably null	Het
Xcr1	T	A	9: 123,856,647	M17L	probably benign	Het
Zbtb40	A	G	4: 136,988,759	I965T	probably damaging	Het
Zfp760	A	T	17: 21,723,530	H562L	probably damaging	Het
Zfp760	A	T	17: 21,723,535	R564*	probably null	Het
Znf41-ps	T	A	4: 145,828,713		noncoding transcript	Het
Zyg11a	A	T	4: 108,210,190	I41N	probably damaging	Het

Other mutations in Dars2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
P0005:Dars2	UTSW	1	161053939	critical splice donor site	probably null
R0230:Dars2	UTSW	1	161062787	missense	probably benign	0.02
R0537:Dars2	UTSW	1	161060748	missense	possibly damaging	0.46
R0709:Dars2	UTSW	1	161046928	missense	probably benign	0.00
R1365:Dars2	UTSW	1	161044994	nonsense	probably null
R1502:Dars2	UTSW	1	161046805	nonsense	probably null
R1625:Dars2	UTSW	1	161054044	missense	possibly damaging	0.88
R1934:Dars2	UTSW	1	161063241	splice site	probably null
R2239:Dars2	UTSW	1	161063282	missense	possibly damaging	0.83
R3721:Dars2	UTSW	1	161063308	missense	probably benign	0.03
R4308:Dars2	UTSW	1	161041721	missense	probably damaging	0.98
R4786:Dars2	UTSW	1	161060760	missense	probably damaging	1.00
R4903:Dars2	UTSW	1	161051371	missense	probably benign	0.06
R5042:Dars2	UTSW	1	161045094	intron	probably benign
R5068:Dars2	UTSW	1	161041913	missense	probably benign	0.02
R6257:Dars2	UTSW	1	161041828	missense	probably damaging	1.00
R7286:Dars2	UTSW	1	161046808	missense	possibly damaging	0.85
R7346:Dars2	UTSW	1	161046772	splice site	probably null
R7444:Dars2	UTSW	1	161046884	missense	possibly damaging	0.94
R7593:Dars2	UTSW	1	161057543	missense	probably damaging	1.00
R7845:Dars2	UTSW	1	161041748	missense	probably benign	0.00
R8707:Dars2	UTSW	1	161056511	missense	probably damaging	1.00
R8916:Dars2	UTSW	1	161053982	missense	probably benign	0.20
X0063:Dars2	UTSW	1	161056493	missense	probably benign	0.14

Predicted Primers

PCR Primer
(F):5'- TGCTACATAACACATGAAGAGAAGC -3'
(R):5'- TGGATTCCCTCAGGAGAACC -3'

Sequencing Primer
(F):5'- GAACTCACTTTGTAGACCAGGCTG -3'
(R):5'- TTGAGCCTACTGTTAATAAGTTGTG -3'

Posted On

2016-03-01