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GarsNmf249
Spontaneous Allele Detail
Nomenclature
Symbol: GarsNmf249
Name: glycyl-tRNA synthetase; neuroscience mutagenesis facility, 249
MGI ID: MGI:3513831
Synonyms: GarsP278KY, Nmf249
Gene: Gars  Location: Chr6:55038007-55079500 bp, + strand  Genetic Position: Chr6, 27.29 cM
Mutation
origin
Strain of Origin:  C57BL/6J
Mutation
description
Allele Type:    Spontaneous
Mutations:    Insertion, Nucleotide substitutions
 
Mutation detailsSequence analysis revealed that a CC pair in the open reading frame was changed to AAATA. This nucleotide substitution results in the proline at codon 278 to be replaced with a tyrosine and lysine residue without affecting the rest of the open reading frame. This highly conserved proline residue is near the second catalytic domain. Expression of transcript from this allele does not appear to be affected by this mutation. It is predicted to be a gain-of-function mutation. (J:112221)
Inheritance:    Dominant
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
Disease models
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Find Mice (IMSR)
Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
Carrying this Mutation:  Mouse Strains: 1 strain available      Cell Lines: 0 lines available
Carrying any Gars Mutation:  27 strains or lines available
Notes
Although this phenotypic mutation was identified in an ENU mutagenesis screen, it is probably of spontaneous origin.
References
Original:  J:82238 JAX Neuroscience Mutagenesis Facility, Heritable mouse mutants from JAX NMF ENU Mutagenesis Program. MGI Direct Data Submission. 2003;
All:  9 reference(s)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
04/03/2018
MGI 6.11
The Jackson Laboratory