Mutagenetix > Incidental Mutation

Incidental Mutation 'R6137:Dars1'

488382

Institutional Source

Beutler Lab

Gene Symbol

Dars1

Ensembl Gene

ENSMUSG00000026356

Gene Name

aspartyl-tRNA synthetase 1

Synonyms

5730439G15Rik, Dars

MMRRC Submission

044284-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.955) question?

Stock #

R6137 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

128291444-128345105 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 128296176 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 386 (T386A)

Ref Sequence

ENSEMBL: ENSMUSP00000027602 (fasta)

Gene Model

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

AlphaFold

Q922B2

Predicted Effect

probably benign
Transcript: ENSMUST00000027602
AA Change: T386A

PolyPhen 2 Score 0.438 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000027602
Gene: ENSMUSG00000026356
AA Change: T386A

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: 99.9%
3x: 99.5%
10x: 97.8%
20x: 93.3%

Validation Efficiency

98% (58/59)

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310057M21Rik	G	T	7: 130,959,342 (GRCm39)	H165Q	probably damaging	Het
Akap13	T	A	7: 75,327,164 (GRCm39)	F721Y	probably damaging	Het
Akap6	A	T	12: 53,187,137 (GRCm39)	D1517V	probably damaging	Het
Amigo3	T	A	9: 107,930,927 (GRCm39)	S117T	probably damaging	Het
Atf7ip2	T	A	16: 10,019,275 (GRCm39)	N34K	probably damaging	Het
Cacnb1	A	C	11: 97,896,608 (GRCm39)	V351G	probably damaging	Het
Casp9	T	A	4: 141,532,660 (GRCm39)		probably null	Het
Ccdc51	C	T	9: 108,918,483 (GRCm39)	T24I	probably benign	Het
Cdh23	T	A	10: 60,270,291 (GRCm39)	Y618F	probably damaging	Het
Chd1	T	A	17: 15,978,950 (GRCm39)	W1271R	probably damaging	Het
Dchs1	T	A	7: 105,414,313 (GRCm39)	D834V	probably damaging	Het
Dgkd	T	A	1: 87,864,103 (GRCm39)	V933E	possibly damaging	Het
Dnah17	A	G	11: 117,916,480 (GRCm39)	F4203S	probably damaging	Het
Fancm	T	C	12: 65,177,156 (GRCm39)	L2000P	probably damaging	Het
Fbxo11	A	T	17: 88,316,097 (GRCm39)	H444Q	probably benign	Het
Fbxw14	T	A	9: 109,105,290 (GRCm39)	T292S	probably damaging	Het
Fer1l6	T	C	15: 58,431,055 (GRCm39)	S237P	probably damaging	Het
Frem3	T	C	8: 81,341,676 (GRCm39)	I1323T	probably benign	Het
Grin2a	A	G	16: 9,471,313 (GRCm39)	F652L	probably benign	Het
Grin2b	T	A	6: 135,900,456 (GRCm39)	M142L	possibly damaging	Het
Helz	A	G	11: 107,509,886 (GRCm39)	Q503R	possibly damaging	Het
Ighv5-17	A	G	12: 113,822,915 (GRCm39)	Y69H	probably benign	Het
Il17ra	A	G	6: 120,452,543 (GRCm39)	N242S	probably benign	Het
Immp1l	G	C	2: 105,794,553 (GRCm39)	G117A	probably damaging	Het
Itm2c	T	C	1: 85,822,413 (GRCm39)	V10A	probably benign	Het
Kif1b	T	C	4: 149,322,883 (GRCm39)	K679E	possibly damaging	Het
Kng1	T	C	16: 22,893,395 (GRCm39)	V256A	possibly damaging	Het
Lamc2	T	G	1: 153,041,899 (GRCm39)	R78S	possibly damaging	Het
Loxl4	A	G	19: 42,587,232 (GRCm39)	F621S	probably damaging	Het
Lpl	T	A	8: 69,345,399 (GRCm39)	D134E	probably damaging	Het
Lypd3	T	C	7: 24,339,919 (GRCm39)	Y329H	probably benign	Het
Mettl13	T	C	1: 162,363,455 (GRCm39)	D225G	probably benign	Het
Myo7b	A	G	18: 32,133,027 (GRCm39)	F441L	probably damaging	Het
Nnt	T	A	13: 119,472,864 (GRCm39)	M699L	possibly damaging	Het
Nr1h3	A	T	2: 91,022,196 (GRCm39)	M144K	probably damaging	Het
Or2t46	A	T	11: 58,471,894 (GRCm39)	M75L	probably benign	Het
Or5al6	A	G	2: 85,976,313 (GRCm39)	V255A	probably benign	Het
Or6z6	T	C	7: 6,491,844 (GRCm39)	T3A	probably benign	Het
Pappa2	A	T	1: 158,699,113 (GRCm39)	Y667N	probably damaging	Het
Prps1l3	A	G	12: 57,285,674 (GRCm39)	I155V	probably benign	Het
Ptgs2	T	A	1: 149,976,744 (GRCm39)	N24K	probably benign	Het
Ralgds	A	T	2: 28,437,600 (GRCm39)	M514L	probably damaging	Het
Rbm47	G	C	5: 66,183,626 (GRCm39)	R326G	probably damaging	Het
Sacm1l	T	A	9: 123,398,070 (GRCm39)	V254D	probably damaging	Het
Selenot	A	T	3: 58,492,705 (GRCm39)	Q64L	probably damaging	Het
Sgsm2	G	A	11: 74,741,677 (GRCm39)	R1037W	probably damaging	Het
Slc22a12	A	G	19: 6,592,754 (GRCm39)	V10A	probably benign	Het
Spem2	G	T	11: 69,707,522 (GRCm39)	S481*	probably null	Het
Styk1	C	T	6: 131,287,979 (GRCm39)	G128D	probably damaging	Het
Tex54	A	T	19: 8,718,148 (GRCm39)	D6V	probably damaging	Het
Tmc6	A	T	11: 117,667,154 (GRCm39)	L148Q	probably damaging	Het
Tmem138	A	C	19: 10,552,199 (GRCm39)		probably null	Het
Tnpo3	A	G	6: 29,555,267 (GRCm39)	V772A	probably benign	Het
Topaz1	T	C	9: 122,626,821 (GRCm39)	F1483S	possibly damaging	Het
Tuba4a	C	A	1: 75,192,699 (GRCm39)	C305F	probably damaging	Het
Ubap1	T	G	4: 41,379,262 (GRCm39)	F159V	possibly damaging	Het
Vmn2r9	A	G	5: 108,996,882 (GRCm39)	I129T	probably benign	Het
Wwc2	A	T	8: 48,309,298 (GRCm39)	M828K	unknown	Het
Zfp236	A	T	18: 82,689,919 (GRCm39)	S187T	possibly damaging	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
R1148:Dars1	UTSW	1	128,294,646 (GRCm39)	splice site	probably benign
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
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

PCR Primer
(F):5'- CCCCATCCCAGTAAGTCCTTAG -3'
(R):5'- CTAAAGGGTGTGGCATCAGG -3'

Sequencing Primer
(F):5'- AGAGAGTTCTCTTTCTTCCC -3'
(R):5'- ACTTCAGTCGTTTCCATTTGAAG -3'

Posted On

2017-10-10