Incidental Mutation 'IGL00661:Hgsnat'
ID 11262
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Hgsnat
Ensembl Gene ENSMUSG00000037260
Gene Name heparan-alpha-glucosaminide N-acetyltransferase
Synonyms 9430010M12Rik, D8Ertd354e, Tmem76
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL00661
Quality Score
Status
Chromosome 8
Chromosomal Location 26434481-26466781 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 26462965 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Methionine at position 70 (V70M)
Ref Sequence ENSEMBL: ENSMUSP00000040356 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000037609] [ENSMUST00000211550]
AlphaFold Q3UDW8
Predicted Effect probably benign
Transcript: ENSMUST00000037609
AA Change: V70M

PolyPhen 2 Score 0.035 (Sensitivity: 0.94; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000040356
Gene: ENSMUSG00000037260
AA Change: V70M

DomainStartEndE-ValueType
low complexity region 2 23 N/A INTRINSIC
transmembrane domain 33 55 N/A INTRINSIC
transmembrane domain 189 211 N/A INTRINSIC
Pfam:DUF1624 260 434 6.8e-11 PFAM
Pfam:DUF5009 286 389 2.4e-10 PFAM
transmembrane domain 494 516 N/A INTRINSIC
transmembrane domain 523 545 N/A INTRINSIC
transmembrane domain 560 582 N/A INTRINSIC
transmembrane domain 587 609 N/A INTRINSIC
transmembrane domain 629 648 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000209420
Predicted Effect probably benign
Transcript: ENSMUST00000211550
Coding Region Coverage
Validation Efficiency
MGI Phenotype 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

All alleles(9) : Targeted(3) Gene trapped(6)

Other mutations in this stock
Total: 30 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
AAdacl4fm3 A G 4: 144,430,263 (GRCm39) V242A possibly damaging Het
Antxr2 T C 5: 98,152,155 (GRCm39) D152G probably benign Het
Blmh A T 11: 76,856,758 (GRCm39) K118* probably null Het
Bnip3 G A 7: 138,499,801 (GRCm39) P62L probably damaging Het
Catsperb A T 12: 101,554,357 (GRCm39) T684S probably damaging Het
Chd3 C A 11: 69,248,209 (GRCm39) K894N possibly damaging Het
Chkb T A 15: 89,311,794 (GRCm39) R133S probably benign Het
Dennd5a T C 7: 109,507,579 (GRCm39) N803S probably benign Het
Dync2li1 A T 17: 84,956,668 (GRCm39) D276V possibly damaging Het
Erap1 T C 13: 74,822,908 (GRCm39) probably benign Het
Leprot T C 4: 101,509,673 (GRCm39) probably null Het
Lhcgr G A 17: 89,057,546 (GRCm39) A315V probably benign Het
Lrrn4 C T 2: 132,712,588 (GRCm39) V412I probably benign Het
Macrod2 G A 2: 140,261,824 (GRCm39) probably null Het
Mmaa G A 8: 80,008,199 (GRCm39) R13C probably damaging Het
Plpp4 T A 7: 128,918,023 (GRCm39) I66N probably damaging Het
Prl4a1 T C 13: 28,205,359 (GRCm39) V108A probably benign Het
Prss1 G T 6: 41,439,553 (GRCm39) K95N possibly damaging Het
Rasa2 C T 9: 96,459,606 (GRCm39) probably benign Het
Relb A G 7: 19,350,336 (GRCm39) V208A possibly damaging Het
Sema3d T C 5: 12,555,806 (GRCm39) S178P probably damaging Het
Slc18a1 A T 8: 69,526,383 (GRCm39) W102R probably benign Het
Slc39a8 A C 3: 135,563,873 (GRCm39) K239N probably benign Het
Stap1 A G 5: 86,229,132 (GRCm39) H100R probably benign Het
Suz12 T A 11: 79,889,918 (GRCm39) V143E probably damaging Het
Tmf1 A G 6: 97,153,455 (GRCm39) V206A probably benign Het
Trim16 T A 11: 62,728,058 (GRCm39) probably benign Het
Ube2b C T 11: 51,891,119 (GRCm39) probably null Het
Vmn1r223 T C 13: 23,434,254 (GRCm39) S283P probably damaging Het
Wrn T A 8: 33,809,173 (GRCm39) probably benign Het
Other mutations in Hgsnat
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02950:Hgsnat APN 8 26,461,729 (GRCm39) missense probably damaging 1.00
IGL03145:Hgsnat APN 8 26,436,480 (GRCm39) missense probably damaging 1.00
ample UTSW 8 26,437,988 (GRCm39) nonsense probably null
generous UTSW 8 26,458,389 (GRCm39) critical splice donor site probably null
P0018:Hgsnat UTSW 8 26,458,382 (GRCm39) unclassified probably benign
PIT4305001:Hgsnat UTSW 8 26,435,227 (GRCm39) missense possibly damaging 0.67
R1396:Hgsnat UTSW 8 26,447,363 (GRCm39) missense possibly damaging 0.95
R1676:Hgsnat UTSW 8 26,444,633 (GRCm39) critical splice donor site probably null
R1856:Hgsnat UTSW 8 26,447,284 (GRCm39) missense probably benign 0.06
R1998:Hgsnat UTSW 8 26,435,280 (GRCm39) nonsense probably null
R2497:Hgsnat UTSW 8 26,435,280 (GRCm39) nonsense probably null
R2570:Hgsnat UTSW 8 26,435,280 (GRCm39) nonsense probably null
R4012:Hgsnat UTSW 8 26,445,817 (GRCm39) nonsense probably null
R4080:Hgsnat UTSW 8 26,436,371 (GRCm39) missense probably benign 0.02
R4462:Hgsnat UTSW 8 26,444,664 (GRCm39) missense probably damaging 1.00
R4523:Hgsnat UTSW 8 26,458,389 (GRCm39) critical splice donor site probably null
R4914:Hgsnat UTSW 8 26,454,866 (GRCm39) missense probably damaging 0.98
R5010:Hgsnat UTSW 8 26,437,988 (GRCm39) nonsense probably null
R5561:Hgsnat UTSW 8 26,436,362 (GRCm39) missense possibly damaging 0.90
R5889:Hgsnat UTSW 8 26,453,395 (GRCm39) missense probably damaging 1.00
R6411:Hgsnat UTSW 8 26,436,303 (GRCm39) missense possibly damaging 0.88
R6520:Hgsnat UTSW 8 26,443,328 (GRCm39) missense probably damaging 1.00
R6524:Hgsnat UTSW 8 26,435,260 (GRCm39) missense probably damaging 1.00
R7230:Hgsnat UTSW 8 26,444,860 (GRCm39) splice site probably null
R7462:Hgsnat UTSW 8 26,447,241 (GRCm39) missense probably benign 0.45
R7509:Hgsnat UTSW 8 26,445,754 (GRCm39) missense probably damaging 0.98
R7526:Hgsnat UTSW 8 26,461,077 (GRCm39) missense probably damaging 1.00
R7583:Hgsnat UTSW 8 26,461,592 (GRCm39) critical splice donor site probably null
R7679:Hgsnat UTSW 8 26,444,665 (GRCm39) missense probably damaging 1.00
R8111:Hgsnat UTSW 8 26,458,440 (GRCm39) missense probably benign 0.00
R8206:Hgsnat UTSW 8 26,444,665 (GRCm39) missense probably damaging 1.00
R8321:Hgsnat UTSW 8 26,461,179 (GRCm39) missense possibly damaging 0.89
R8545:Hgsnat UTSW 8 26,445,707 (GRCm39) missense probably benign 0.00
R8556:Hgsnat UTSW 8 26,443,308 (GRCm39) critical splice donor site probably null
R9071:Hgsnat UTSW 8 26,436,302 (GRCm39) missense possibly damaging 0.76
R9480:Hgsnat UTSW 8 26,442,029 (GRCm39) missense possibly damaging 0.93
Posted On 2012-12-06