|Institutional Source||Beutler Lab|
|Gene Name||heparan-alpha-glucosaminide N-acetyltransferase|
|Synonyms||D8Ertd354e, 9430010M12Rik, Tmem76|
|Is this an essential gene?||Non essential (E-score: 0.000)|
|Stock #||R1396 (G1)|
|Chromosomal Location||25944453-25976753 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||C to A at 25957335 bp|
|Amino Acid Change||Methionine to Isoleucine at position 310 (M310I)|
|Ref Sequence||ENSEMBL: ENSMUSP00000040356 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000037609]|
|Predicted Effect||possibly damaging
AA Change: M310I
PolyPhen 2 Score 0.949 (Sensitivity: 0.79; Specificity: 0.95)
AA Change: M310I
|Coding Region Coverage||
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a lysosomal acetyltransferase, which is one of several enzymes involved in the lysosomal degradation of heparin sulfate. Mutations in this gene are associated with Sanfilippo syndrome C, one type of the lysosomal storage disease mucopolysaccaridosis III, which results from impaired degradation of heparan sulfate. [provided by RefSeq, Jan 2009]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit progressive storage pathology in the CNS and peripheral organs, glycosaminoglycan accumulation in brain and most somatic organs, lysosomal distension and dysfunction, astrocytosis, microgliosis, hepatosplenomegaly, behavioral deficits and premature death. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Hgsnat||
(F):5'- ACTCCGTCGGAAGAACTCCATCAG -3'
(R):5'- AGCCAACAGGGCTGTGTTTGTG -3'
(F):5'- tgggtttgctcccaaatactg -3'
(R):5'- GTGCCCCTCATGTATTATGAGC -3'