Mutagenetix > Incidental Mutation

Incidental Mutation 'R3433:Nars1'

266318

Institutional Source

Beutler Lab

Gene Symbol

Nars1

Ensembl Gene

ENSMUSG00000024587

Gene Name

asparaginyl-tRNA synthetase 1

Synonyms

Nars, ASNRS

MMRRC Submission

040651-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.967) question?

Stock #

R3433 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

64632726-64649586 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 64642374 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 156 (M156K)

Ref Sequence

ENSEMBL: ENSMUSP00000025483 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000025483]

AlphaFold

Q8BP47

Predicted Effect

probably damaging
Transcript: ENSMUST00000025483
AA Change: M156K

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000025483
Gene: ENSMUSG00000024587
AA Change: M156K

Domain	Start	End	E-Value	Type
coiled coil region	80	112	N/A	INTRINSIC
Pfam:tRNA_anti-codon	139	219	1.2e-12	PFAM
Pfam:tRNA-synt_2	236	554	1.8e-108	PFAM

Meta Mutation Damage Score

0.6358

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 94.8%

Validation Efficiency

100% (50/50)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Aminoacyl-tRNA synthetases are a class of enzymes that charge tRNAs with their cognate amino acids. Asparaginyl-tRNA synthetase is localized to the cytoplasm and belongs to the class II family of tRNA synthetases. The N-terminal domain represents the signature sequence for the eukaryotic asparaginyl-tRNA synthetases. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca14	T	A	7: 119,893,455 (GRCm39)	W1302R	probably damaging	Het
Abcf1	A	G	17: 36,269,109 (GRCm39)	Y689H	probably benign	Het
Adamtsl5	T	C	10: 80,178,725 (GRCm39)	T218A	probably benign	Het
Ahnak	G	T	19: 8,987,358 (GRCm39)	V2881L	probably benign	Het
Atp6v1b1	C	A	6: 83,720,074 (GRCm39)	T3K	possibly damaging	Het
Atp8b5	A	T	4: 43,372,697 (GRCm39)	R1112S	probably benign	Het
Carmil3	A	G	14: 55,745,151 (GRCm39)	D1331G	probably benign	Het
Catsperg2	A	G	7: 29,400,643 (GRCm39)	F696S	possibly damaging	Het
Cd33	T	C	7: 43,179,331 (GRCm39)	T273A	probably benign	Het
Cenpf	C	T	1: 189,392,146 (GRCm39)	C562Y	probably damaging	Het
Cep192	A	G	18: 67,967,963 (GRCm39)	R816G	probably benign	Het
Cnot11	G	A	1: 39,584,268 (GRCm39)		probably null	Het
Col18a1	A	G	10: 76,932,102 (GRCm39)	L329P	unknown	Het
Dnah9	T	C	11: 65,965,938 (GRCm39)	M1693V	possibly damaging	Het
Fbxo41	A	G	6: 85,454,613 (GRCm39)	I701T	probably damaging	Het
Figla	G	T	6: 85,994,411 (GRCm39)	R62L	probably damaging	Het
Gca	T	G	2: 62,520,318 (GRCm39)	S159R	probably damaging	Het
Gkn3	C	T	6: 87,360,507 (GRCm39)	A163T	probably damaging	Het
Gm10845	C	T	14: 80,100,851 (GRCm39)		noncoding transcript	Het
Gm5114	T	C	7: 39,058,621 (GRCm39)	K333E	probably benign	Het
Ift140	T	C	17: 25,255,282 (GRCm39)	I466T	probably benign	Het
Il6st	A	G	13: 112,640,365 (GRCm39)	K653E	probably damaging	Het
Kansl2	A	G	15: 98,426,742 (GRCm39)		probably null	Het
Kcnh7	T	C	2: 62,552,261 (GRCm39)	D910G	probably benign	Het
Leng8	C	A	7: 4,145,131 (GRCm39)	T177K	probably benign	Het
Lrrtm2	A	C	18: 35,346,950 (GRCm39)	S117R	probably damaging	Het
Megf8	G	T	7: 25,059,549 (GRCm39)	A2285S	probably benign	Het
Meiob	T	C	17: 25,035,571 (GRCm39)		probably benign	Het
Myo18a	G	T	11: 77,708,870 (GRCm39)		probably null	Het
Ndor1	A	G	2: 25,137,823 (GRCm39)	S499P	possibly damaging	Het
Or2a57	A	T	6: 43,212,607 (GRCm39)	I22F	probably damaging	Het
Or2r11	G	A	6: 42,437,888 (GRCm39)	H22Y	probably benign	Het
Or4a78	T	C	2: 89,497,577 (GRCm39)	I218V	probably benign	Het
Pcdh15	T	G	10: 74,467,331 (GRCm39)	S1715A	probably benign	Het
Ptprd	C	A	4: 76,004,248 (GRCm39)		probably null	Het
Ros1	A	G	10: 51,967,204 (GRCm39)	Y1668H	probably benign	Het
Rrbp1	A	G	2: 143,794,200 (GRCm39)		probably benign	Het
Rtn4rl2	T	C	2: 84,702,444 (GRCm39)	Y376C	probably damaging	Het
Seh1l	A	C	18: 67,926,222 (GRCm39)	K358T	probably benign	Het
Sema3e	A	T	5: 14,302,728 (GRCm39)	Y751F	probably benign	Het
Shroom3	G	T	5: 93,090,945 (GRCm39)	V1151F	probably damaging	Het
Spred2	G	T	11: 19,948,277 (GRCm39)	E91*	probably null	Het
Sspo	A	T	6: 48,452,885 (GRCm39)		probably null	Het
Tcaf1	A	G	6: 42,663,508 (GRCm39)	V124A	probably damaging	Het
Tnks1bp1	T	C	2: 84,901,360 (GRCm39)		probably benign	Het
Txndc11	T	C	16: 10,906,052 (GRCm39)	T493A	probably benign	Het
Usp17lb	T	A	7: 104,490,855 (GRCm39)	Q23L	possibly damaging	Het
Vgf	T	C	5: 137,059,873 (GRCm39)	F12L	probably benign	Het
Zfp13	G	A	17: 23,795,602 (GRCm39)	T323I	probably damaging	Het

Other mutations in Nars1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01012:Nars1	APN	18	64,638,039 (GRCm39)	missense	probably damaging	1.00
IGL01962:Nars1	APN	18	64,643,554 (GRCm39)	missense	probably benign	0.00
IGL01968:Nars1	APN	18	64,640,929 (GRCm39)	missense	probably damaging	1.00
IGL02288:Nars1	APN	18	64,643,606 (GRCm39)	splice site	probably benign
IGL02366:Nars1	APN	18	64,636,599 (GRCm39)	missense	possibly damaging	0.70
IGL02948:Nars1	APN	18	64,638,266 (GRCm39)	missense	possibly damaging	0.66
FR4976:Nars1	UTSW	18	64,643,516 (GRCm39)	critical splice donor site	probably benign
R0591:Nars1	UTSW	18	64,633,638 (GRCm39)	missense	probably damaging	1.00
R1654:Nars1	UTSW	18	64,645,120 (GRCm39)	missense	probably damaging	1.00
R1691:Nars1	UTSW	18	64,649,485 (GRCm39)	critical splice donor site	probably null
R1954:Nars1	UTSW	18	64,633,635 (GRCm39)	missense	probably damaging	1.00
R2006:Nars1	UTSW	18	64,638,099 (GRCm39)	missense	probably damaging	1.00
R2516:Nars1	UTSW	18	64,638,087 (GRCm39)	missense	probably damaging	1.00
R4378:Nars1	UTSW	18	64,634,424 (GRCm39)	missense	probably damaging	1.00
R4667:Nars1	UTSW	18	64,638,302 (GRCm39)	missense	possibly damaging	0.93
R4737:Nars1	UTSW	18	64,649,498 (GRCm39)	missense	probably benign
R4877:Nars1	UTSW	18	64,633,643 (GRCm39)	nonsense	probably null
R5950:Nars1	UTSW	18	64,643,556 (GRCm39)	missense	possibly damaging	0.91
R6434:Nars1	UTSW	18	64,640,872 (GRCm39)	missense	probably benign	0.01
R6920:Nars1	UTSW	18	64,634,471 (GRCm39)	missense	probably damaging	0.99
R7082:Nars1	UTSW	18	64,637,425 (GRCm39)	missense	possibly damaging	0.68
R7132:Nars1	UTSW	18	64,640,841 (GRCm39)	critical splice donor site	probably null
R7504:Nars1	UTSW	18	64,645,093 (GRCm39)	missense	probably benign	0.22
R8120:Nars1	UTSW	18	64,637,422 (GRCm39)	missense	probably benign	0.19
R8343:Nars1	UTSW	18	64,637,458 (GRCm39)	missense	probably benign	0.01
R8429:Nars1	UTSW	18	64,634,391 (GRCm39)	missense	probably damaging	1.00
R8929:Nars1	UTSW	18	64,644,895 (GRCm39)	missense	probably benign
R9321:Nars1	UTSW	18	64,637,950 (GRCm39)	missense	probably damaging	1.00
R9397:Nars1	UTSW	18	64,642,327 (GRCm39)	missense	probably benign	0.30

Predicted Primers

PCR Primer
(F):5'- GCTACAGGTATCCAGTTAGCAC -3'
(R):5'- GTTCAGAGCTGACTGACTGTC -3'

Sequencing Primer
(F):5'- GGTATCCAGTTAGCACAGTAAAAATG -3'
(R):5'- TCATGTGGATGGCAAAGACTGTAC -3'

Posted On

2015-02-18