Mutagenetix > Incidental Mutation

Incidental Mutation 'R5294:Dars1'

405272

Institutional Source

Beutler Lab

Gene Symbol

Dars1

Ensembl Gene

ENSMUSG00000026356

Gene Name

aspartyl-tRNA synthetase 1

Synonyms

5730439G15Rik, Dars

MMRRC Submission

042877-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.955) question?

Stock #

R5294 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

128291444-128345105 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 128292039 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Isoleucine at position 480 (F480I)

Ref Sequence

ENSEMBL: ENSMUSP00000027602 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000027601] [ENSMUST00000027602] [ENSMUST00000190495]

AlphaFold

Q922B2

Predicted Effect

probably benign
Transcript: ENSMUST00000027601

SMART Domains

Protein: ENSMUSP00000027601
Gene: ENSMUSG00000026355

Domain	Start	End	E-Value	Type
MCM	119	657	1.43e-270	SMART
PDB:2LE8\|A	710	821	1e-47	PDB

Predicted Effect

probably benign
Transcript: ENSMUST00000027602
AA Change: F480I

PolyPhen 2 Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000027602
Gene: ENSMUSG00000026356
AA Change: F480I

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

probably benign
Transcript: ENSMUST00000190495

SMART Domains

Protein: ENSMUSP00000140308
Gene: ENSMUSG00000026355

Domain	Start	End	E-Value	Type
MCM	119	657	1.43e-270	SMART
PDB:2LE8\|A	710	783	3e-29	PDB

Meta Mutation Damage Score

0.1507

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.5%
20x: 96.0%

Validation Efficiency

97% (70/72)

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: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930579C12Rik	T	C	9: 89,034,056 (GRCm39)		noncoding transcript	Het
Acaca	A	G	11: 84,282,345 (GRCm39)	E2154G	probably benign	Het
Acacb	T	C	5: 114,380,013 (GRCm39)	F2056L	probably damaging	Het
Aff1	A	G	5: 103,959,023 (GRCm39)		probably benign	Het
Amn1	T	A	6: 149,086,622 (GRCm39)		probably benign	Het
Arid1a	C	A	4: 133,418,366 (GRCm39)		probably benign	Het
Aste1	T	A	9: 105,279,904 (GRCm39)		probably null	Het
Asxl3	T	A	18: 22,649,496 (GRCm39)	V495D	possibly damaging	Het
Atp1a3	T	A	7: 24,687,473 (GRCm39)	H688L	probably damaging	Het
B3gnt8	T	C	7: 25,328,191 (GRCm39)	L207P	probably damaging	Het
Baz2b	T	C	2: 59,808,946 (GRCm39)	H101R	probably benign	Het
Bicc1	G	A	10: 70,783,730 (GRCm39)	T387M	possibly damaging	Het
Champ1	A	C	8: 13,928,981 (GRCm39)	K380Q	probably damaging	Het
Cnst	A	G	1: 179,438,005 (GRCm39)	E523G	probably benign	Het
Cops6	G	C	5: 138,159,378 (GRCm39)		probably benign	Het
Cp	G	C	3: 20,020,480 (GRCm39)	V158L	probably benign	Het
Cyfip1	T	A	7: 55,523,231 (GRCm39)	M52K	possibly damaging	Het
Diaph1	C	A	18: 38,030,603 (GRCm39)	E284*	probably null	Het
Diaph1	T	C	18: 38,030,633 (GRCm39)	M274V	unknown	Het
Dock8	G	A	19: 25,038,517 (GRCm39)	V68M	probably benign	Het
Elavl4	A	G	4: 110,068,627 (GRCm39)	F247L	possibly damaging	Het
Emc10	C	T	7: 44,145,863 (GRCm39)		probably benign	Het
Fbxw16	T	C	9: 109,265,712 (GRCm39)	D369G	probably benign	Het
Fgr	A	T	4: 132,724,811 (GRCm39)	D304V	probably benign	Het
Filip1l	G	A	16: 57,390,399 (GRCm39)	S91N	possibly damaging	Het
Haus8	A	G	8: 71,708,354 (GRCm39)	S103P	unknown	Het
Hscb	A	G	5: 110,982,658 (GRCm39)	L143P	probably damaging	Het
Hsd11b2	A	T	8: 106,249,929 (GRCm39)	M347L	probably benign	Het
Jrk	C	A	15: 74,579,185 (GRCm39)	E33D	possibly damaging	Het
Kbtbd8	T	A	6: 95,098,813 (GRCm39)	Y123*	probably null	Het
Lrrc37	A	G	11: 103,507,057 (GRCm39)		probably benign	Het
Mis18bp1	A	C	12: 65,203,817 (GRCm39)	M59R	probably damaging	Het
Mrps27	T	C	13: 99,546,381 (GRCm39)	V260A	probably damaging	Het
Ncapg2	G	T	12: 116,391,414 (GRCm39)	V488L	possibly damaging	Het
Nepn	A	T	10: 52,276,896 (GRCm39)	N211Y	probably benign	Het
Ntrk3	A	T	7: 78,167,254 (GRCm39)		probably null	Het
Or10x4	A	T	1: 174,218,791 (GRCm39)	Y52F	probably benign	Het
Or11h23	A	G	14: 50,947,900 (GRCm39)	T38A	possibly damaging	Het
Or11h23	A	G	14: 50,948,236 (GRCm39)	I150V	probably benign	Het
Or52w1	C	T	7: 105,017,620 (GRCm39)	T20I	probably benign	Het
Otud4	A	T	8: 80,399,521 (GRCm39)	Q744L	possibly damaging	Het
P2ry14	A	T	3: 59,022,989 (GRCm39)	I166N	possibly damaging	Het
Pak2	T	A	16: 31,840,648 (GRCm39)	N478Y	probably damaging	Het
Papss2	A	G	19: 32,616,400 (GRCm39)	D202G	probably benign	Het
Pcdh7	C	A	5: 57,885,453 (GRCm39)		probably null	Het
Peg3	C	A	7: 6,720,848 (GRCm39)	S19I	possibly damaging	Het
Prim2	G	T	1: 33,707,974 (GRCm39)	T40K	probably benign	Het
Ranbp2	T	C	10: 58,314,490 (GRCm39)	F1737L	probably benign	Het
Rex2	A	C	4: 147,142,442 (GRCm39)	N310T	probably benign	Het
Rnf123	AT	ATT	9: 107,941,202 (GRCm39)		probably null	Het
Rnf39	C	T	17: 37,258,092 (GRCm39)	A86V	probably damaging	Het
Ror1	A	T	4: 100,283,135 (GRCm39)	N400I	probably benign	Het
Slc38a8	C	T	8: 120,221,028 (GRCm39)	G177D	probably damaging	Het
Slc43a3	T	C	2: 84,786,654 (GRCm39)	V445A	probably benign	Het
Sptbn2	A	G	19: 4,768,936 (GRCm39)	N23S	possibly damaging	Het
Taf5l	A	G	8: 124,734,957 (GRCm39)	F74L	probably benign	Het
Trappc11	G	C	8: 47,983,766 (GRCm39)	A42G	possibly damaging	Het
Trim30d	T	C	7: 104,121,695 (GRCm39)	K350R	probably damaging	Het
Trnt1	T	C	6: 106,750,375 (GRCm39)	F93S	probably damaging	Het
Ube2c	T	C	2: 164,619,110 (GRCm39)	V161A	probably benign	Het
Usp24	A	G	4: 106,219,554 (GRCm39)	E555G	possibly damaging	Het
Vmn2r55	T	G	7: 12,385,791 (GRCm39)	S730R	probably damaging	Het
Vmn2r89	T	A	14: 51,692,570 (GRCm39)	N124K	probably benign	Het
Vmn2r98	T	A	17: 19,290,016 (GRCm39)	C517*	probably null	Het
Vps13a	A	T	19: 16,619,031 (GRCm39)	I2845N	probably damaging	Het
Vps51	T	G	19: 6,121,063 (GRCm39)	E283D	probably benign	Het
Xpo5	T	C	17: 46,547,848 (GRCm39)	V896A	probably benign	Het
Zfp2	T	C	11: 50,792,068 (GRCm39)		probably benign	Het
Zgrf1	G	A	3: 127,394,629 (GRCm39)	M1328I	probably benign	Het
Zswim5	A	G	4: 116,836,774 (GRCm39)	D686G	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
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

PCR Primer
(F):5'- AAAGGCTATGAATTTCAACCATAGAA -3'
(R):5'- GAACAGTTTCGGTTTCTGGAATAAGT -3'

Sequencing Primer
(F):5'- CAGGTTCCTGGAGAGAAT -3'
(R):5'- CCTCCTAAATGCTGGGATTAAAGGC -3'

Posted On

2016-07-22