Summary | Mutation origin | Mutation description | Expression | Phenotypes | Disease models | Find Mice (IMSR) | Notes | References

Symbol:	Gars1Nmf249
Name:	glycyl-tRNA synthetase 1; neuroscience mutagenesis facility, 249
MGI ID:	MGI:3513831
Synonyms:	GarsP234KY, GarsP278KY, Nmf249
Gene:	Gars1  Location: Chr6:55014992-55056485 bp, + strand  Genetic Position: Chr6, 27.29 cM
Alliance:	Gars1Nmf249 page

Strain of Origin:

C57BL/6J

Allele Type:    Spontaneous (Not Applicable) Mutations:    Insertion, Intragenic deletion   Mutation details: Sequence analysis revealed that a CC pair in the open reading frame was changed to AAATA. This nucleotide substitution results in the proline codon 278 (CCT) to be replaced with tyrosine and lysine codons (AAATAT) (p.P234delinsKY) 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

View phenotypes and curated references for all genotypes (concatenated display).

In Structures Affected by this Mutation:

4 anatomical structure(s)

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 Gars1 Mutation:	42 strains or lines available

Original:	J:82238 JAX Neuroscience Mutagenesis Facility, Heritable mouse mutants from JAX NMF ENU Mutagenesis Program. MGI Direct Data Submission. 2003;
All:	15 reference(s)