|Institutional Source||Beutler Lab|
|Gene Name||glycine amidinotransferase (L-arginine:glycine amidinotransferase)|
|Is this an essential gene?||Non essential (E-score: 0.000)|
|Stock #||R1004 (G1)|
|Chromosomal Location||122594467-122611303 bp(-) (GRCm38)|
|Type of Mutation||splice site|
|DNA Base Change (assembly)||C to T at 122609660 bp|
|Amino Acid Change|
|Ref Sequence||ENSEMBL: ENSMUSP00000028624 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000028624]|
|Predicted Effect||probably benign
|Meta Mutation Damage Score||0.0898|
|Coding Region Coverage||
|Validation Efficiency||100% (41/41)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a mitochondrial enzyme that belongs to the amidinotransferase family. This enzyme is involved in creatine biosynthesis, whereby it catalyzes the transfer of a guanido group from L-arginine to glycine, resulting in guanidinoacetic acid, the immediate precursor of creatine. Mutations in this gene cause arginine:glycine amidinotransferase deficiency, an inborn error of creatine synthesis characterized by mental retardation, language impairment, and behavioral disorders. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit resistance obesity, reduced adipocity and improved glucose homeostasis when fed a high fat diet. Mice homozygous for an ENU-induced allele exhibit increased susceptibility to DSS-induced colitis. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Gatm||
(F):5'- CAAGTGAGAGGTCCTGTGGCAATATC -3'
(R):5'- TGCAGCGAACTTTCCAGAGCAC -3'
(F):5'- TCCTAAACTCCCAGGGAGG -3'
(R):5'- TTTCCAGAGCACCCAGGC -3'