Mutagenetix > Incidental Mutation

Incidental Mutation 'R2092:Dars'

231807

Institutional Source

Beutler Lab

Gene Symbol

Dars

Ensembl Gene

ENSMUSG00000026356

Gene Name

aspartyl-tRNA synthetase

Synonyms

5730439G15Rik

MMRRC Submission

040097-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.959) question?

Stock #

R2092 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

128363707-128417368 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 128374018 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 293 (M293K)

Ref Sequence

ENSEMBL: ENSMUSP00000027602 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000027602]

AlphaFold

Q922B2

Predicted Effect

probably damaging
Transcript: ENSMUST00000027602
AA Change: M293K

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000027602
Gene: ENSMUSG00000026356
AA Change: M293K

Domain	Start	End	E-Value	Type
Pfam:tRNA_anti-codon	60	145	4.6e-10	PFAM
Pfam:tRNA-synt_2	175	496	2.3e-77	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000186398

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.2%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of a multienzyme complex that functions in mediating the attachment of amino acids to their cognate tRNAs. The encoded protein ligates L-aspartate to tRNA(Asp). Mutations in this gene have been found in patients showing hypomyelination with brainstem and spinal cord involvement and leg spasticity. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2014]
PHENOTYPE: Mice homozygous for a knock-out allele die between E11 and E14. Mice heterozygous for the allele exhibit decreased PPI. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2m	T	A	6: 121,674,937 (GRCm38)	C1321*	probably null	Het
Abca8b	A	G	11: 109,966,708 (GRCm38)	F673L	possibly damaging	Het
Adam19	T	G	11: 46,060,904 (GRCm38)		probably null	Het
AI987944	T	C	7: 41,374,617 (GRCm38)	T313A	possibly damaging	Het
Akap13	A	T	7: 75,610,570 (GRCm38)	I178F	probably benign	Het
Alb	G	GA	5: 90,463,983 (GRCm38)		probably null	Het
Bod1l	A	G	5: 41,831,517 (GRCm38)	S416P	probably damaging	Het
Casr	A	T	16: 36,510,043 (GRCm38)	Y310N	possibly damaging	Het
Cela3a	T	C	4: 137,404,426 (GRCm38)	N152S	probably benign	Het
Chrdl2	T	A	7: 100,020,977 (GRCm38)	C102*	probably null	Het
Col4a4	G	A	1: 82,498,946 (GRCm38)	S554L	unknown	Het
Col6a4	T	C	9: 106,060,331 (GRCm38)	K1392R	probably damaging	Het
Dab1	T	G	4: 104,678,777 (GRCm38)	Y128D	probably damaging	Het
Dlec1	T	C	9: 119,121,844 (GRCm38)	F493L	possibly damaging	Het
Dmbt1	G	T	7: 131,050,018 (GRCm38)	W330L	probably damaging	Het
Dnah11	A	T	12: 118,012,716 (GRCm38)	M831K	possibly damaging	Het
Dock7	T	C	4: 99,009,308 (GRCm38)	N715S	possibly damaging	Het
Edc4	T	A	8: 105,887,528 (GRCm38)	L12Q	probably damaging	Het
Edem2	T	C	2: 155,709,049 (GRCm38)	M333V	probably benign	Het
Fpr-rs4	CAGGAA	CA	17: 18,022,334 (GRCm38)		probably null	Het
Fto	C	A	8: 91,409,687 (GRCm38)	Y194*	probably null	Het
Gnptab	T	G	10: 88,440,305 (GRCm38)	Y1151*	probably null	Het
Grm1	A	G	10: 10,689,225 (GRCm38)	L1113P	probably benign	Het
Hnrnpa0	T	C	13: 58,127,800 (GRCm38)	K172E	probably damaging	Het
Ifitm1	A	G	7: 140,969,514 (GRCm38)	D70G	probably damaging	Het
Irx4	C	A	13: 73,265,486 (GRCm38)	T25K	probably damaging	Het
Kif22	C	T	7: 127,033,630 (GRCm38)	D195N	probably damaging	Het
Lrp2	C	T	2: 69,536,021 (GRCm38)	D245N	probably benign	Het
Lyz1	C	T	10: 117,288,599 (GRCm38)	R144Q	probably benign	Het
Macf1	T	A	4: 123,383,178 (GRCm38)	T6055S	probably damaging	Het
Mrgpra2b	C	T	7: 47,464,160 (GRCm38)	V249I	probably benign	Het
Myh9	G	A	15: 77,764,350 (GRCm38)	Q80*	probably null	Het
Myo6	G	T	9: 80,245,682 (GRCm38)	R199L	probably damaging	Het
Naglu	G	A	11: 101,076,720 (GRCm38)	V499I	possibly damaging	Het
Nfkbie	T	C	17: 45,558,539 (GRCm38)	F140S	probably benign	Het
Olfr1208	A	G	2: 88,897,267 (GRCm38)	F110S	probably damaging	Het
Olfr1454	T	A	19: 13,063,802 (GRCm38)	Y130*	probably null	Het
Olfr510	CAAATA	CA	7: 108,667,662 (GRCm38)		probably null	Het
Olfr598	G	A	7: 103,329,109 (GRCm38)	V208M	probably damaging	Het
Olfr67	A	T	7: 103,788,072 (GRCm38)	F68L	possibly damaging	Het
Olfr935	A	T	9: 38,995,189 (GRCm38)	L82Q	probably damaging	Het
Otop1	A	T	5: 38,299,766 (GRCm38)	I290F	probably damaging	Het
P2rx2	C	T	5: 110,341,141 (GRCm38)	D203N	probably damaging	Het
Pcdhb10	T	A	18: 37,414,187 (GRCm38)	I772N	probably benign	Het
Pnliprp1	A	G	19: 58,741,184 (GRCm38)	H423R	probably benign	Het
Ptk2	A	T	15: 73,236,191 (GRCm38)	Y56*	probably null	Het
Rapgef3	T	C	15: 97,760,723 (GRCm38)	D134G	probably damaging	Het
Scaf11	A	C	15: 96,415,827 (GRCm38)	S1358A	probably damaging	Het
Scn9a	T	C	2: 66,533,376 (GRCm38)	M844V	probably damaging	Het
Sh3tc1	T	C	5: 35,700,658 (GRCm38)	E1121G	probably damaging	Het
Slc25a15	T	C	8: 22,380,934 (GRCm38)	T176A	probably damaging	Het
Slc29a4	T	A	5: 142,718,855 (GRCm38)	I384N	probably damaging	Het
Slc40a1	A	T	1: 45,909,454 (GRCm38)	D555E	probably benign	Het
Smc5	T	C	19: 23,238,899 (GRCm38)	I446V	probably benign	Het
St6gal2	T	C	17: 55,510,266 (GRCm38)	Y477H	probably damaging	Het
Syngr1	A	T	15: 80,115,940 (GRCm38)	Q84L	possibly damaging	Het
Tedc1	T	C	12: 113,157,720 (GRCm38)	L187P	probably damaging	Het
Tg	A	G	15: 66,849,607 (GRCm38)	I322V	probably null	Het
Thap12	T	C	7: 98,716,449 (GRCm38)	V608A	possibly damaging	Het
Tmbim6	T	C	15: 99,402,068 (GRCm38)	S22P	probably damaging	Het
Ttc3	C	T	16: 94,442,832 (GRCm38)	P1232S	probably benign	Het
Upk3a	A	G	15: 85,018,085 (GRCm38)	T38A	probably damaging	Het
Utrn	A	T	10: 12,678,698 (GRCm38)	M1549K	probably benign	Het
Vmn1r176	C	T	7: 23,835,153 (GRCm38)	D192N	probably damaging	Het
Vmn1r198	A	G	13: 22,354,715 (GRCm38)	T35A	possibly damaging	Het
Xkr7	C	T	2: 153,054,063 (GRCm38)	S279L	probably damaging	Het
Zer1	G	A	2: 30,108,274 (GRCm38)	L342F	probably damaging	Het
Zfp641	G	T	15: 98,293,712 (GRCm38)	T31N	probably benign	Het
Zfp74	G	A	7: 29,953,924 (GRCm38)		probably benign	Het

Other mutations in Dars

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01660:Dars	APN	1	128,415,344 (GRCm38)	splice site	probably benign
IGL02260:Dars	APN	1	128,372,161 (GRCm38)	missense	probably benign	0.19
IGL03264:Dars	APN	1	128,413,690 (GRCm38)	missense	probably damaging	1.00
R0308:Dars	UTSW	1	128,364,259 (GRCm38)	missense	probably damaging	1.00
R0609:Dars	UTSW	1	128,405,381 (GRCm38)	missense	probably benign	0.00
R1148:Dars	UTSW	1	128,366,909 (GRCm38)	splice site	probably benign
R1598:Dars	UTSW	1	128,373,972 (GRCm38)	missense	probably benign	0.00
R2140:Dars	UTSW	1	128,372,162 (GRCm38)	missense	probably benign	0.00
R2196:Dars	UTSW	1	128,378,858 (GRCm38)	missense	probably damaging	1.00
R4735:Dars	UTSW	1	128,376,234 (GRCm38)	nonsense	probably null
R5294:Dars	UTSW	1	128,364,302 (GRCm38)	missense	probably benign	0.02
R5521:Dars	UTSW	1	128,373,973 (GRCm38)	missense	probably benign	0.01
R6137:Dars	UTSW	1	128,368,439 (GRCm38)	missense	probably benign	0.44
R6784:Dars	UTSW	1	128,391,347 (GRCm38)	missense	probably damaging	1.00
R6899:Dars	UTSW	1	128,413,746 (GRCm38)	missense	possibly damaging	0.83
R7284:Dars	UTSW	1	128,372,267 (GRCm38)	missense	probably benign
R7437:Dars	UTSW	1	128,372,204 (GRCm38)	missense	possibly damaging	0.46
R7562:Dars	UTSW	1	128,367,026 (GRCm38)	missense	possibly damaging	0.86
R8169:Dars	UTSW	1	128,376,265 (GRCm38)	missense	probably null
R8223:Dars	UTSW	1	128,372,224 (GRCm38)	missense	probably benign	0.06
R9027:Dars	UTSW	1	128,368,426 (GRCm38)	missense	possibly damaging	0.47
R9192:Dars	UTSW	1	128,372,152 (GRCm38)	missense	probably benign	0.03
R9377:Dars	UTSW	1	128,417,208 (GRCm38)	missense	probably benign
R9567:Dars	UTSW	1	128,415,375 (GRCm38)	missense
R9712:Dars	UTSW	1	128,405,462 (GRCm38)	missense	probably benign	0.00
Z1176:Dars	UTSW	1	128,372,207 (GRCm38)	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- TGGGATACAGCACAAGCCTG -3'
(R):5'- ACTCTGTGGGGTGGGAAAAC -3'

Sequencing Primer
(F):5'- CTGGAACTCATTCTGTAGACCAGG -3'
(R):5'- TGGGAAAACAGTATCACTTAGGCAC -3'

Posted On

2014-09-18