|Institutional Source||Beutler Lab|
|Gene Name||glycine amidinotransferase (L-arginine:glycine amidinotransferase)|
|Is this an essential gene?||Non essential (E-score: 0.000)|
|Stock #||R5155 (G1)|
|Chromosomal Location||122594467-122611303 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||G to A at 122609853 bp|
|Amino Acid Change||Threonine to Isoleucine at position 35 (T35I)|
|Ref Sequence||ENSEMBL: ENSMUSP00000028624 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000028624]|
|Predicted Effect||probably benign
AA Change: T35I
PolyPhen 2 Score 0.037 (Sensitivity: 0.94; Specificity: 0.82)
AA Change: T35I
|Coding Region Coverage||
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'- CACCTCCACTGTGAATGGTG -3'
(R):5'- TCTGGGAGTTCTAAAAGATTACAGC -3'
(F):5'- GGCACACAGGCATTTTCAG -3'
(R):5'- CTGAGTCTCACACTTTAACC -3'