Mutagenetix > Incidental Mutation

Incidental Mutation 'R3721:Dars2'

258887

Institutional Source

Beutler Lab

Gene Symbol

Dars2

Ensembl Gene

ENSMUSG00000026709

Gene Name

aspartyl-tRNA synthetase 2 (mitochondrial)

Synonyms

5830468K18Rik

MMRRC Submission

040712-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R3721 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

160868171-160898228 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 160890878 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 111 (V111E)

Ref Sequence

ENSEMBL: ENSMUSP00000041851 (fasta)

Gene Model

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

AlphaFold

Q8BIP0

Predicted Effect

probably benign
Transcript: ENSMUST00000035430
AA Change: V111E

PolyPhen 2 Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000041851
Gene: ENSMUSG00000026709
AA Change: V111E

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: ENSMUST00000159922

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000160591

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000160759

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000162398

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000162654

Meta Mutation Damage Score

0.1442

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.0%
20x: 94.2%

Validation Efficiency

100% (59/59)

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
Acvr2a	T	C	2: 48,782,150 (GRCm39)	S228P	probably damaging	Het
Adamts2	C	T	11: 50,664,038 (GRCm39)		probably benign	Het
Arhgap9	A	G	10: 127,164,840 (GRCm39)	E588G	possibly damaging	Het
Ash2l	C	G	8: 26,308,653 (GRCm39)	G453A	probably damaging	Het
Catsperg2	A	G	7: 29,404,527 (GRCm39)	V638A	probably benign	Het
Ccrl2	T	C	9: 110,885,432 (GRCm39)	D22G	probably benign	Het
Cdc73	T	C	1: 143,571,191 (GRCm39)	I83V	possibly damaging	Het
Ceacam23	A	G	7: 17,636,663 (GRCm39)	T247A	probably benign	Het
Clec2e	C	A	6: 129,071,373 (GRCm39)	E155*	probably null	Het
Cyp3a59	T	A	5: 146,033,407 (GRCm39)	M181K	probably damaging	Het
Diras2	T	A	13: 52,662,059 (GRCm39)	I83F	probably damaging	Het
Dlg2	T	A	7: 91,361,008 (GRCm39)		probably null	Het
Dnai1	G	A	4: 41,602,615 (GRCm39)	R113H	probably damaging	Het
Eeig2	C	T	3: 108,887,083 (GRCm39)	R305Q	probably damaging	Het
Emilin2	T	C	17: 71,580,449 (GRCm39)	N759S	probably benign	Het
F11	A	G	8: 45,701,675 (GRCm39)	S353P	probably damaging	Het
Ggnbp1	T	C	17: 27,248,587 (GRCm39)	V52A	probably benign	Het
Gpr171	A	G	3: 59,005,091 (GRCm39)	V228A	possibly damaging	Het
Gsta3	T	C	1: 21,330,313 (GRCm39)	M55T	probably benign	Het
Hectd3	T	A	4: 116,856,942 (GRCm39)	N496K	probably benign	Het
Hp1bp3	T	G	4: 137,966,919 (GRCm39)	F367V	probably damaging	Het
Il18rap	T	A	1: 40,576,248 (GRCm39)	L253Q	probably damaging	Het
Irs1	C	T	1: 82,267,806 (GRCm39)	G137S	probably benign	Het
Kirrel1	C	T	3: 86,996,458 (GRCm39)	M380I	probably null	Het
Lair1	A	C	7: 4,013,782 (GRCm39)	L155R	probably damaging	Het
Larp7	A	G	3: 127,340,460 (GRCm39)	L126P	probably damaging	Het
Lhx1	G	A	11: 84,412,654 (GRCm39)	R89C	probably damaging	Het
Lypd4	C	A	7: 24,564,884 (GRCm39)	A85S	probably benign	Het
Mei1	A	G	15: 81,987,405 (GRCm39)	H399R	possibly damaging	Het
Myh10	G	T	11: 68,703,878 (GRCm39)	R1863L	probably damaging	Het
Myo9a	G	A	9: 59,775,463 (GRCm39)	V1025I	probably benign	Het
Naa25	T	A	5: 121,569,619 (GRCm39)	D659E	probably benign	Het
Nol9	A	G	4: 152,124,163 (GRCm39)	S118G	probably benign	Het
Or4k2	C	T	14: 50,424,137 (GRCm39)	C179Y	probably damaging	Het
Or5p72	G	T	7: 108,022,326 (GRCm39)	D183Y	probably damaging	Het
Pde10a	T	A	17: 9,188,421 (GRCm39)	I907N	probably damaging	Het
Pkhd1	T	C	1: 20,655,879 (GRCm39)	D218G	probably benign	Het
Poll	A	G	19: 45,542,016 (GRCm39)	I430T	probably damaging	Het
Pomgnt1	T	G	4: 116,010,740 (GRCm39)		probably benign	Het
Rab6b	T	C	9: 103,044,373 (GRCm39)		probably null	Het
Rad1	T	C	15: 10,488,112 (GRCm39)	S79P	probably benign	Het
Ranbp17	GCCTGGATACTGACC	GCC	11: 33,169,203 (GRCm39)		probably benign	Het
Rcc1	T	C	4: 132,065,125 (GRCm39)	K133E	possibly damaging	Het
Ric8a	T	C	7: 140,441,874 (GRCm39)		probably null	Het
Rnf135	G	T	11: 80,087,743 (GRCm39)	A231S	probably benign	Het
Rps6ka4	A	G	19: 6,816,645 (GRCm39)	V146A	possibly damaging	Het
Sh3bp4	A	G	1: 89,073,050 (GRCm39)	I633V	possibly damaging	Het
Slc2a2	T	A	3: 28,781,301 (GRCm39)	N446K	probably damaging	Het
Slc44a1	T	C	4: 53,491,445 (GRCm39)	Y61H	probably damaging	Het
Slc7a1	G	A	5: 148,272,343 (GRCm39)	R445*	probably null	Het
Smc5	T	C	19: 23,187,856 (GRCm39)	M911V	probably benign	Het
Sntb1	C	A	15: 55,506,214 (GRCm39)	R453L	probably benign	Het
Spink4	T	A	4: 40,929,136 (GRCm39)	C54S	probably damaging	Het
Srrm2	CTCCTCTTCTTCCTCTTCTTCCTC	CTCCTCTTCTTCCTC	17: 24,041,549 (GRCm39)		probably benign	Het
Trpm1	T	G	7: 63,867,475 (GRCm39)		probably benign	Het
Tufm	T	C	7: 126,089,632 (GRCm39)	M442T	probably benign	Het
Ubn1	A	G	16: 4,891,242 (GRCm39)	N539S	possibly 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
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
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'- GCGAGTTCATTTGTGGACCT -3'
(R):5'- TGGTCTTACTGGCTGTATTGTATAGA -3'

Sequencing Primer
(F):5'- TCATTTGTGGACCTGAGGAAC -3'
(R):5'- CAGCACACAAGCTGTGA -3'

Posted On

2015-01-23