Mutagenetix > Incidental Mutation

Incidental Mutation 'R9277:Dars2'

703349

Institutional Source

Beutler Lab

Gene Symbol

Dars2

Ensembl Gene

ENSMUSG00000026709

Gene Name

aspartyl-tRNA synthetase 2 (mitochondrial)

Synonyms

5830468K18Rik

MMRRC Submission

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R9277 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

160868171-160898228 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 160877527 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Valine at position 390 (A390V)

Ref Sequence

ENSEMBL: ENSMUSP00000041851 (fasta)

Gene Model

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

AlphaFold

Q8BIP0

Predicted Effect

probably benign
Transcript: ENSMUST00000035430
AA Change: A390V

PolyPhen 2 Score 0.074 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000041851
Gene: ENSMUSG00000026709
AA Change: A390V

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

100% (55/55)

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: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca8b	T	C	11: 109,867,347 (GRCm39)	Y237C	probably damaging	Het
Adam12	T	C	7: 133,521,561 (GRCm39)	S566G	probably benign	Het
Afdn	T	A	17: 14,024,270 (GRCm39)	C59S	probably damaging	Het
Apob	A	T	12: 8,061,183 (GRCm39)	I3222F	probably benign	Het
Cdyl	A	G	13: 36,042,222 (GRCm39)	D420G	probably benign	Het
Cela1	C	A	15: 100,580,894 (GRCm39)	A121S	possibly damaging	Het
Clip2	A	G	5: 134,528,963 (GRCm39)	M822T	probably benign	Het
Coq8a	G	A	1: 180,006,776 (GRCm39)	T84I	probably benign	Het
Dhx40	C	T	11: 86,661,056 (GRCm39)	M744I	probably benign	Het
Dnajc14	A	G	10: 128,642,689 (GRCm39)	I204V	probably benign	Het
Eftud2	A	C	11: 102,750,855 (GRCm39)	F322V	probably damaging	Het
Eif4g2	G	A	7: 110,674,066 (GRCm39)	A646V	probably damaging	Het
Faim2	T	C	15: 99,419,097 (GRCm39)	T91A	probably benign	Het
Fancl	A	T	11: 26,418,847 (GRCm39)	I290F	possibly damaging	Het
Fermt3	A	T	19: 6,991,245 (GRCm39)	Y253N	possibly damaging	Het
Fhip1a	C	A	3: 85,579,565 (GRCm39)	R880L	probably benign	Het
Frem3	T	A	8: 81,417,402 (GRCm39)	S2036T	probably damaging	Het
Gm10330	A	T	12: 23,829,911 (GRCm39)	V90E	probably damaging	Het
Golga1	T	C	2: 38,914,255 (GRCm39)	E488G	probably benign	Het
Gpatch11	T	A	17: 79,148,446 (GRCm39)	L128Q	possibly damaging	Het
Hoxd9	A	G	2: 74,529,539 (GRCm39)	N265S	possibly damaging	Het
Igfn1	C	T	1: 135,887,520 (GRCm39)	V2515M	probably damaging	Het
Itga2b	A	G	11: 102,351,982 (GRCm39)	L505P	probably damaging	Het
Klrg2	A	G	6: 38,613,491 (GRCm39)	S171P	probably benign	Het
Lamtor5	A	G	3: 107,186,404 (GRCm39)	T58A	probably benign	Het
Lgr6	G	T	1: 134,915,217 (GRCm39)	C787*	probably null	Het
Madd	A	G	2: 91,006,055 (GRCm39)	F380S	probably damaging	Het
Magi1	A	T	6: 93,920,234 (GRCm39)	H127Q	possibly damaging	Het
Maml2	A	G	9: 13,531,872 (GRCm39)	E362G		Het
Morc2b	C	T	17: 33,354,997 (GRCm39)	G925D	probably benign	Het
Nalcn	C	T	14: 123,518,523 (GRCm39)	R1672H	probably damaging	Het
Npsr1	A	G	9: 24,224,493 (GRCm39)	Y290C	possibly damaging	Het
Obox5	A	T	7: 15,491,877 (GRCm39)	E97D	probably damaging	Het
Parn	C	T	16: 13,482,519 (GRCm39)		probably null	Het
Pip4k2b	A	T	11: 97,613,272 (GRCm39)	N241K	probably damaging	Het
Pkn2	A	G	3: 142,516,509 (GRCm39)	V539A	probably benign	Het
Plpp7	A	T	2: 31,985,824 (GRCm39)	M1L	probably damaging	Het
Pramel43	T	C	5: 94,762,843 (GRCm39)	T60A	probably benign	Het
Pramel44	A	G	5: 94,771,917 (GRCm39)	T16A	probably benign	Het
Prtg	G	A	9: 72,716,929 (GRCm39)	S90N	probably benign	Het
Rgs7bp	G	A	13: 105,100,618 (GRCm39)	T219M	probably damaging	Het
Scgb1b20	G	A	7: 33,072,998 (GRCm39)	D69N	probably benign	Het
Setd2	A	G	9: 110,379,619 (GRCm39)	T1145A	probably damaging	Het
Slc49a3	G	T	5: 108,589,864 (GRCm39)	P513T	probably benign	Het
Tmem145	A	G	7: 25,009,165 (GRCm39)	Q359R	probably benign	Het
Trmt5	C	A	12: 73,329,448 (GRCm39)	D237Y	probably damaging	Het
Vmn1r169	A	T	7: 23,277,390 (GRCm39)	I261F	probably benign	Het
Vmn1r19	A	T	6: 57,382,322 (GRCm39)	I292F	unknown	Het
Vmn2r66	T	C	7: 84,661,164 (GRCm39)	D22G	probably benign	Het
Vwa3b	T	A	1: 37,196,534 (GRCm39)		probably null	Het
Wbp4	T	A	14: 79,714,353 (GRCm39)	D53V	probably benign	Het
Xpo1	A	G	11: 23,241,550 (GRCm39)	I866V	probably benign	Het
Zan	G	A	5: 137,462,254 (GRCm39)	P975L	unknown	Het
Zdhhc19	G	A	16: 32,316,512 (GRCm39)	R89Q	probably benign	Het
Zer1	G	A	2: 30,001,297 (GRCm39)	T69I	probably benign	Het
Zfp827	C	T	8: 79,787,029 (GRCm39)	T65I	probably damaging	Het
Zswim9	A	G	7: 12,994,983 (GRCm39)	F391S	probably damaging	Het

Other mutations in Dars2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
P0005:Dars2	UTSW	1	160,881,509 (GRCm39)	critical splice donor site	probably null
R0230:Dars2	UTSW	1	160,890,357 (GRCm39)	missense	probably benign	0.02
R0537:Dars2	UTSW	1	160,888,318 (GRCm39)	missense	possibly damaging	0.46
R0709:Dars2	UTSW	1	160,874,498 (GRCm39)	missense	probably benign	0.00
R1365:Dars2	UTSW	1	160,872,564 (GRCm39)	nonsense	probably null
R1502:Dars2	UTSW	1	160,874,375 (GRCm39)	nonsense	probably null
R1625:Dars2	UTSW	1	160,881,614 (GRCm39)	missense	possibly damaging	0.88
R1934:Dars2	UTSW	1	160,890,811 (GRCm39)	splice site	probably null
R2239:Dars2	UTSW	1	160,890,852 (GRCm39)	missense	possibly damaging	0.83
R3721:Dars2	UTSW	1	160,890,878 (GRCm39)	missense	probably benign	0.03
R4308:Dars2	UTSW	1	160,869,291 (GRCm39)	missense	probably damaging	0.98
R4786:Dars2	UTSW	1	160,888,330 (GRCm39)	missense	probably damaging	1.00
R4859:Dars2	UTSW	1	160,872,560 (GRCm39)	missense	probably damaging	0.99
R4903:Dars2	UTSW	1	160,878,941 (GRCm39)	missense	probably benign	0.06
R5042:Dars2	UTSW	1	160,872,664 (GRCm39)	intron	probably benign
R5068:Dars2	UTSW	1	160,869,483 (GRCm39)	missense	probably benign	0.02
R6257:Dars2	UTSW	1	160,869,398 (GRCm39)	missense	probably damaging	1.00
R7286:Dars2	UTSW	1	160,874,378 (GRCm39)	missense	possibly damaging	0.85
R7346:Dars2	UTSW	1	160,874,342 (GRCm39)	splice site	probably null
R7444:Dars2	UTSW	1	160,874,454 (GRCm39)	missense	possibly damaging	0.94
R7593:Dars2	UTSW	1	160,885,113 (GRCm39)	missense	probably damaging	1.00
R7845:Dars2	UTSW	1	160,869,318 (GRCm39)	missense	probably benign	0.00
R8707:Dars2	UTSW	1	160,884,081 (GRCm39)	missense	probably damaging	1.00
R8916:Dars2	UTSW	1	160,881,552 (GRCm39)	missense	probably benign	0.20
R9237:Dars2	UTSW	1	160,873,025 (GRCm39)	missense	probably damaging	1.00
X0063:Dars2	UTSW	1	160,884,063 (GRCm39)	missense	probably benign	0.14

Predicted Primers

PCR Primer
(F):5'- ACTAAGTGCTCACTAGTTAAGGG -3'
(R):5'- TGCCTTAGAGCATGTGTCATAATG -3'

Sequencing Primer
(F):5'- AAGCTCTAGTGCATCCAGTG -3'
(R):5'- TTAGAGCATGTGTCATAATGAAGAAG -3'

Posted On

2022-03-25