|Institutional Source||Beutler Lab|
|Gene Name||glycine cleavage system protein H (aminomethyl carrier)|
|Is this an essential gene?||Probably essential (E-score: 0.755)|
|Stock #||R1533 (G1)|
|Chromosomal Location||116981810-116993537 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to A at 116989182 bp|
|Amino Acid Change||Histidine to Leucine at position 54 (H54L)|
|Ref Sequence||ENSEMBL: ENSMUSP00000037131 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000040484]|
|Predicted Effect||probably damaging
AA Change: H54L
PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
AA Change: H54L
|Predicted Effect||noncoding transcript
|Coding Region Coverage||
|MGI Phenotype||FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Degradation of glycine is brought about by the glycine cleavage system, which is composed of four mitochondrial protein components: P protein (a pyridoxal phosphate-dependent glycine decarboxylase), H protein (a lipoic acid-containing protein), T protein (a tetrahydrofolate-requiring enzyme), and L protein (a lipoamide dehydrogenase). The protein encoded by this gene is the H protein, which transfers the methylamine group of glycine from the P protein to the T protein. Defects in this gene are a cause of nonketotic hyperglycinemia (NKH). Two transcript variants, one protein-coding and the other probably not protein-coding,have been found for this gene. Also, several transcribed and non-transcribed pseudogenes of this gene exist throughout the genome.[provided by RefSeq, Jan 2010]|
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Gcsh||
(F):5'- GTACCTACAATGGCAATGTCCCCTC -3'
(R):5'- TCTGCTGGGCATCAAACTACTCAAG -3'
(F):5'- tgtcccacctcagcctaag -3'
(R):5'- GGGCATCAAACTACTCAAGCAATG -3'