|Institutional Source||Beutler Lab|
|Gene Name||N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase|
|Is this an essential gene?||Probably non essential (E-score: 0.080)|
|Stock #||R1746 (G1)|
|Chromosomal Location||5195289-5204012 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||C to T at 5203639 bp|
|Amino Acid Change||Valine to Methionine at position 83 (V83M)|
|Ref Sequence||ENSEMBL: ENSMUSP00000023911 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000023911] [ENSMUST00000147567]|
|Predicted Effect||probably damaging
AA Change: V83M
PolyPhen 2 Score 0.965 (Sensitivity: 0.78; Specificity: 0.95)
AA Change: V83M
|Predicted Effect||noncoding transcript
|Predicted Effect||probably benign
|Meta Mutation Damage Score||0.368|
|Coding Region Coverage||
|Validation Efficiency||100% (62/62)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Hydrolases are transported to lysosomes after binding to mannose 6-phosphate receptors in the trans-Golgi network. This gene encodes the enzyme that catalyzes the second step in the formation of the mannose 6-phosphate recognition marker on lysosomal hydrolases. Commonly known as 'uncovering enzyme' or UCE, this enzyme removes N-acetyl-D-glucosamine (GlcNAc) residues from GlcNAc-alpha-P-mannose moieties and thereby produces the recognition marker. The encoded preproprotein is proteolytically processed by furin to generate the mature enzyme, a homotetramer of two disulfide-linked homodimers. Mutations in this gene are associated with developmental stuttering in human patients. [provided by RefSeq, Oct 2015]
PHENOTYPE: Mice homozygous for a null allele have an increased level of acid hydrolases, however the hydrolases contain GlcNAc-P-Man diesters, exhibit a decreased affinity for the cation-independent mannose 6-phosphate receptor and fail to bind to the cation-dependent mannose 6-phosphate receptor. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Nagpa||
(F):5'- ACATCAGAGACCCTTTGCCCTCTAC -3'
(R):5'- GACCGGAGCACCAATCCAATATGG -3'
(F):5'- GTTCCATCGCGTCGGATAC -3'
(R):5'- CAATCCAATATGGCGGCG -3'