Mutagenetix > Incidental Mutation

Incidental Mutation 'R1148:Dars1'

165185

Institutional Source

Beutler Lab

Gene Symbol

Dars1

Ensembl Gene

ENSMUSG00000026356

Gene Name

aspartyl-tRNA synthetase 1

Synonyms

5730439G15Rik, Dars

MMRRC Submission

039221-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.955) question?

Stock #

R1148 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

128291444-128345105 bp(-) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

T to C at 128294646 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000027602 (fasta)

Gene Model

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

AlphaFold

Q922B2

Predicted Effect

probably benign
Transcript: ENSMUST00000027602

SMART Domains

Protein: ENSMUSP00000027602
Gene: ENSMUSG00000026356

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

Coding Region Coverage

1x: 99.3%
3x: 98.5%
10x: 96.7%
20x: 93.7%

Validation Efficiency

100% (42/42)

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: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2810021J22Rik	T	C	11: 58,767,544 (GRCm39)	S14P	probably damaging	Het
Ablim2	T	C	5: 35,966,605 (GRCm39)	F178S	probably damaging	Het
AC149051.1	A	G	8: 64,379,889 (GRCm39)	L981P	probably damaging	Het
Alg10b	T	C	15: 90,112,068 (GRCm39)	F304S	possibly damaging	Het
Ank3	C	T	10: 69,718,369 (GRCm39)	S540F	probably damaging	Het
Arhgef16	T	C	4: 154,365,346 (GRCm39)	N590D	probably benign	Het
Arsi	G	A	18: 61,049,723 (GRCm39)	G202E	probably benign	Het
Bbs9	T	C	9: 22,486,396 (GRCm39)		probably benign	Het
Cfap58	C	T	19: 47,976,943 (GRCm39)	H731Y	probably damaging	Het
Cilp	T	A	9: 65,187,598 (GRCm39)	L1231Q	possibly damaging	Het
Coq8a	G	A	1: 179,996,968 (GRCm39)		probably benign	Het
Cyp4x1	A	G	4: 114,983,752 (GRCm39)		probably benign	Het
Disp2	G	A	2: 118,636,899 (GRCm39)		probably null	Het
Dnah5	T	C	15: 28,421,836 (GRCm39)	L3896P	probably damaging	Het
Dpp8	T	C	9: 64,961,114 (GRCm39)		probably null	Het
Esp4	A	C	17: 40,913,262 (GRCm39)	N43T	probably benign	Het
Fat3	T	C	9: 15,908,070 (GRCm39)	D2644G	probably damaging	Het
Fgd5	A	G	6: 91,964,612 (GRCm39)	K124E	probably benign	Het
Folh1	T	C	7: 86,410,938 (GRCm39)	D268G	probably damaging	Het
Gm10608	CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA	CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA	9: 118,989,784 (GRCm39)		probably null	Homo
Hexd	A	G	11: 121,112,093 (GRCm39)	I438V	probably benign	Het
Lonp2	A	G	8: 87,363,168 (GRCm39)	E262G	probably benign	Het
Ly6h	G	T	15: 75,437,021 (GRCm39)	S118R	unknown	Het
Mapk12	T	C	15: 89,018,826 (GRCm39)	Y203C	probably damaging	Het
Mapk15	A	G	15: 75,870,004 (GRCm39)	T375A	probably benign	Het
Morc2a	A	G	11: 3,628,557 (GRCm39)	N337D	probably benign	Het
Nsd3	A	G	8: 26,203,407 (GRCm39)	D1307G	probably benign	Het
Or5g9	C	A	2: 85,552,620 (GRCm39)	Y290*	probably null	Het
Osbpl11	T	C	16: 33,047,582 (GRCm39)	F515S	probably damaging	Het
Pcdh15	T	C	10: 74,006,392 (GRCm39)	V90A	probably damaging	Het
Ptpn4	T	A	1: 119,603,439 (GRCm39)		probably benign	Het
Ptpn4	T	C	1: 119,612,270 (GRCm39)	D41G	probably damaging	Het
Rbm4b	A	G	19: 4,807,527 (GRCm39)	H81R	probably damaging	Het
Ric1	T	C	19: 29,557,249 (GRCm39)	Y445H	probably benign	Het
Sez6l2	C	A	7: 126,560,984 (GRCm39)	P483Q	probably damaging	Het
Sh3d19	A	G	3: 86,014,634 (GRCm39)	D475G	possibly damaging	Het
Shprh	T	C	10: 11,089,226 (GRCm39)	S1655P	possibly damaging	Het
Slc25a12	G	A	2: 71,142,912 (GRCm39)		probably benign	Het
Strc	A	G	2: 121,202,558 (GRCm39)		probably benign	Het
Trp53rka	C	A	2: 165,334,961 (GRCm39)		probably benign	Het
Ttc22	G	A	4: 106,480,228 (GRCm39)	V161M	probably damaging	Het
Unc79	T	C	12: 103,078,926 (GRCm39)	L1504P	probably damaging	Het
Vldlr	A	G	19: 27,218,691 (GRCm39)	N514S	probably benign	Het
Wnk1	A	G	6: 119,928,967 (GRCm39)		probably benign	Het
Wsb2	T	C	5: 117,508,742 (GRCm39)		probably benign	Het

Other mutations in Dars1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01660:Dars1	APN	1	128,343,081 (GRCm39)	splice site	probably benign
IGL02260:Dars1	APN	1	128,299,898 (GRCm39)	missense	probably benign	0.19
IGL03264:Dars1	APN	1	128,341,427 (GRCm39)	missense	probably damaging	1.00
R0308:Dars1	UTSW	1	128,291,996 (GRCm39)	missense	probably damaging	1.00
R0609:Dars1	UTSW	1	128,333,118 (GRCm39)	missense	probably benign	0.00
R1598:Dars1	UTSW	1	128,301,709 (GRCm39)	missense	probably benign	0.00
R2092:Dars1	UTSW	1	128,301,755 (GRCm39)	missense	probably damaging	1.00
R2140:Dars1	UTSW	1	128,299,899 (GRCm39)	missense	probably benign	0.00
R2196:Dars1	UTSW	1	128,306,595 (GRCm39)	missense	probably damaging	1.00
R4735:Dars1	UTSW	1	128,303,971 (GRCm39)	nonsense	probably null
R5294:Dars1	UTSW	1	128,292,039 (GRCm39)	missense	probably benign	0.02
R5521:Dars1	UTSW	1	128,301,710 (GRCm39)	missense	probably benign	0.01
R6137:Dars1	UTSW	1	128,296,176 (GRCm39)	missense	probably benign	0.44
R6784:Dars1	UTSW	1	128,319,084 (GRCm39)	missense	probably damaging	1.00
R6899:Dars1	UTSW	1	128,341,483 (GRCm39)	missense	possibly damaging	0.83
R7284:Dars1	UTSW	1	128,300,004 (GRCm39)	missense	probably benign
R7437:Dars1	UTSW	1	128,299,941 (GRCm39)	missense	possibly damaging	0.46
R7562:Dars1	UTSW	1	128,294,763 (GRCm39)	missense	possibly damaging	0.86
R8169:Dars1	UTSW	1	128,304,002 (GRCm39)	missense	probably null
R8223:Dars1	UTSW	1	128,299,961 (GRCm39)	missense	probably benign	0.06
R9027:Dars1	UTSW	1	128,296,163 (GRCm39)	missense	possibly damaging	0.47
R9192:Dars1	UTSW	1	128,299,889 (GRCm39)	missense	probably benign	0.03
R9377:Dars1	UTSW	1	128,344,945 (GRCm39)	missense	probably benign
R9567:Dars1	UTSW	1	128,343,112 (GRCm39)	missense
R9712:Dars1	UTSW	1	128,333,199 (GRCm39)	missense	probably benign	0.00
Z1176:Dars1	UTSW	1	128,299,944 (GRCm39)	nonsense	probably null

Predicted Primers

Posted On

2014-03-28