|Institutional Source||Beutler Lab|
|Gene Name||glycine amidinotransferase (L-arginine:glycine amidinotransferase)|
|Essential gene?||Non essential (E-score: 0.000)|
|Stock #||R8136 (G1)|
|Chromosomal Location||122594467-122611303 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to C at 122595537 bp (GRCm38)|
|Amino Acid Change||Aspartic acid to Glycine at position 411 (D411G)|
|Ref Sequence||ENSEMBL: ENSMUSP00000028624 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000028624]|
AA Change: D411G
PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
AA Change: D411G
|Meta Mutation Damage Score||0.9669|
|Coding Region Coverage||
|Validation Efficiency||98% (40/41)|
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'- CAGGCTTGGAAACCCTGTTAAG -3'
(R):5'- GGCTGGGCTAGATGAAATATAACC -3'
(F):5'- CTGTTAAGGATGTGATTGTTCAAAGC -3'
(R):5'- GGATCTGAACCTCGGTGTTCC -3'