Mutagenetix > Incidental Mutation

Incidental Mutation 'R9237:Dars2'

700523

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 #

R9237 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

160868171-160898228 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 160873025 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Tryptophan at position 455 (R455W)

Ref Sequence

ENSEMBL: ENSMUSP00000041851 (fasta)

Gene Model

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

AlphaFold

Q8BIP0

Predicted Effect

probably damaging
Transcript: ENSMUST00000035430
AA Change: R455W

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

SMART Domains

Protein: ENSMUSP00000041851
Gene: ENSMUSG00000026709
AA Change: R455W

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

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: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca12	A	T	1: 71,318,557 (GRCm39)	N1815K	probably damaging	Het
Acat1	C	A	9: 53,494,816 (GRCm39)	A359S	probably damaging	Het
Actn1	T	C	12: 80,240,470 (GRCm39)	N206D	possibly damaging	Het
Adgrf4	T	A	17: 42,980,782 (GRCm39)	H101L	probably benign	Het
Ager	T	A	17: 34,816,869 (GRCm39)	M1K	probably null	Het
Akap12	T	C	10: 4,307,231 (GRCm39)	I1452T	probably benign	Het
Arap3	G	A	18: 38,112,934 (GRCm39)	A1092V	possibly damaging	Het
Bnip5	T	C	17: 29,123,522 (GRCm39)	E392G	probably benign	Het
C8b	A	G	4: 104,650,481 (GRCm39)	T430A	probably benign	Het
Erbb4	T	G	1: 68,081,601 (GRCm39)	Q1144H	possibly damaging	Het
Exoc2	G	A	13: 31,048,858 (GRCm39)	H732Y	probably benign	Het
Fhad1	T	A	4: 141,632,483 (GRCm39)	M1219L	probably benign	Het
Fktn	G	A	4: 53,734,854 (GRCm39)	G125D	probably benign	Het
Gna15	T	C	10: 81,359,683 (GRCm39)	K36E	possibly damaging	Het
Gpr156	C	T	16: 37,825,648 (GRCm39)	Q622*	probably null	Het
Grip1	C	T	10: 119,911,310 (GRCm39)	S1091L	probably benign	Het
H4c12	A	G	13: 21,934,534 (GRCm39)	S48P	probably damaging	Het
Helt	A	G	8: 46,745,536 (GRCm39)	F154L	probably benign	Het
Ide	T	C	19: 37,307,898 (GRCm39)	N38S		Het
Ighg2b	A	T	12: 113,270,217 (GRCm39)	V267E		Het
Map3k10	C	T	7: 27,357,842 (GRCm39)	W645*	probably null	Het
Mcrip1	G	A	11: 120,435,542 (GRCm39)	P31L	probably damaging	Het
Mttp	T	C	3: 137,810,444 (GRCm39)	E657G	probably benign	Het
Myom1	C	T	17: 71,408,051 (GRCm39)	T1195I	probably damaging	Het
Myom2	T	C	8: 15,152,591 (GRCm39)	V646A	possibly damaging	Het
Nlrc3	A	T	16: 3,783,073 (GRCm39)	M128K	probably benign	Het
Nr2f6	A	C	8: 71,831,073 (GRCm39)	C112W	probably damaging	Het
Or5af1	A	T	11: 58,722,057 (GRCm39)	I26F	possibly damaging	Het
Or5m13b	T	A	2: 85,754,267 (GRCm39)	Y218*	probably null	Het
P2rx3	T	C	2: 84,853,896 (GRCm39)	N139S	probably benign	Het
Pcdha11	T	A	18: 37,145,260 (GRCm39)	N450K	probably damaging	Het
Phb1	T	C	11: 95,566,034 (GRCm39)	I106T	possibly damaging	Het
Phyhipl	C	A	10: 70,406,720 (GRCm39)	R78L	possibly damaging	Het
Pmfbp1	A	G	8: 110,246,932 (GRCm39)	D268G	probably damaging	Het
Pramel39-ps	G	T	5: 94,451,001 (GRCm39)	P375H	probably damaging	Het
Rcbtb2	C	A	14: 73,411,936 (GRCm39)	H408Q	probably damaging	Het
Sptbn1	A	T	11: 30,096,803 (GRCm39)	V271E	probably damaging	Het
Sptlc3	T	A	2: 139,408,605 (GRCm39)	V240E	probably benign	Het
Stat4	A	G	1: 52,146,073 (GRCm39)	N742S	probably benign	Het
Tas2r118	T	A	6: 23,969,617 (GRCm39)	Y148F	probably benign	Het
Trmt5	G	T	12: 73,331,568 (GRCm39)	Q163K	probably benign	Het
Ube2d1	T	A	10: 71,097,925 (GRCm39)	I37F	probably damaging	Het
Vmn1r43	G	A	6: 89,846,877 (GRCm39)	T203M	probably damaging	Het
Vps13b	C	T	15: 35,841,479 (GRCm39)	P2503L	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
R9277:Dars2	UTSW	1	160,877,527 (GRCm39)	missense	probably benign	0.07
X0063:Dars2	UTSW	1	160,884,063 (GRCm39)	missense	probably benign	0.14

Predicted Primers

PCR Primer
(F):5'- GTCACTGGAGTTAGGAGCAG -3'
(R):5'- AGCTGTTTGCCTGGTCACTG -3'

Sequencing Primer
(F):5'- AGTAAATGGGTGATGGGCTGACTC -3'
(R):5'- CCAGGCTAATGGTCATGCGTG -3'

Posted On

2022-02-07