|Institutional Source||Beutler Lab|
|Gene Name||N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits|
|Is this an essential gene?||Probably essential (E-score: 0.946)|
|Stock #||R7596 (G1)|
|Chromosomal Location||88379132-88447329 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to G at 88443370 bp|
|Amino Acid Change||Phenylalanine to Valine at position 1201 (F1201V)|
|Ref Sequence||ENSEMBL: ENSMUSP00000020251 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000020251] [ENSMUST00000151273]|
|Predicted Effect||probably damaging
AA Change: F1201V
PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
AA Change: F1201V
|Predicted Effect||probably benign
|Coding Region Coverage||
|Validation Efficiency||95% (53/56)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes two of three subunit types of the membrane-bound enzyme N-acetylglucosamine-1-phosphotransferase, a heterohexameric complex composed of two alpha, two beta, and two gamma subunits. The encoded protein is proteolytically cleaved at the Lys928-Asp929 bond to yield mature alpha and beta polypeptides while the gamma subunits are the product of a distinct gene (GeneID 84572). In the Golgi apparatus, the heterohexameric complex catalyzes the first step in the synthesis of mannose 6-phosphate recognition markers on certain oligosaccharides of newly synthesized lysosomal enzymes. These recognition markers are essential for appropriate trafficking of lysosomal enzymes. Mutations in this gene have been associated with both mucolipidosis II and mucolipidosis IIIA.[provided by RefSeq, May 2010]
PHENOTYPE: Homozygous mutations cause stunted growth, high lysosomal enzyme levels, skeletal defects, retinal degeneration and secretory cell lesions. Homozygotes for an ENU allele show skeletal and facial defects, altered enzymatic activities, lysosomal storage, Purkinje cell loss, ataxia and premature death. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Gnptab||
(F):5'- CTGAATCAGTGGTGGGAATGAC -3'
(R):5'- TGCTGGACACACTGACACAG -3'
(F):5'- AAATCCTCGAGGCACTTGG -3'
(R):5'- CACTGACACAGGGTGGACAC -3'