Incidental Mutation 'R8206:Hgsnat'
ID 635918
Institutional Source Beutler Lab
Gene Symbol Hgsnat
Ensembl Gene ENSMUSG00000037260
Gene Name heparan-alpha-glucosaminide N-acetyltransferase
Synonyms 9430010M12Rik, D8Ertd354e, Tmem76
MMRRC Submission 067629-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R8206 (G1)
Quality Score 225.009
Status Validated
Chromosome 8
Chromosomal Location 26434481-26466781 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 26444665 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 428 (T428A)
Ref Sequence ENSEMBL: ENSMUSP00000040356 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000037609]
AlphaFold Q3UDW8
Predicted Effect probably damaging
Transcript: ENSMUST00000037609
AA Change: T428A

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000040356
Gene: ENSMUSG00000037260
AA Change: T428A

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency 100% (50/50)
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: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ano4 A G 10: 88,860,958 (GRCm39) Y342H probably damaging Het
Aqp4 T A 18: 15,526,716 (GRCm39) D255V possibly damaging Het
Arhgap26 C A 18: 39,439,803 (GRCm39) S247* probably null Het
Arid4a A G 12: 71,133,361 (GRCm39) D1154G probably damaging Het
Atpaf2 A G 11: 60,295,304 (GRCm39) I182T probably damaging Het
Cacna1i C A 15: 80,274,016 (GRCm39) probably null Het
Ccdc38 A G 10: 93,399,146 (GRCm39) S205G probably damaging Het
Cep63 A G 9: 102,498,470 (GRCm39) probably benign Het
Cripto G A 9: 110,773,352 (GRCm39) probably benign Het
Cyp24a1 T C 2: 170,333,589 (GRCm39) T255A possibly damaging Het
Dlg5 A G 14: 24,210,336 (GRCm39) S787P possibly damaging Het
Dnah6 A T 6: 73,014,549 (GRCm39) C3679* probably null Het
Dpy19l3 T C 7: 35,429,155 (GRCm39) Y95C probably damaging Het
Erc2 G A 14: 28,024,972 (GRCm39) probably null Het
Ezh2 A T 6: 47,509,834 (GRCm39) probably null Het
Fgfr1 A G 8: 26,060,258 (GRCm39) T463A probably damaging Het
Flvcr2 GTAGTGTATA GTA 12: 85,849,922 (GRCm39) probably null Het
Fsip2 T C 2: 82,820,808 (GRCm39) S5514P possibly damaging Het
Glrb A G 3: 80,758,373 (GRCm39) Y347H probably damaging Het
Gm14325 C A 2: 177,474,767 (GRCm39) C105F probably damaging Het
Ighv1-76 T C 12: 115,811,934 (GRCm39) M1V probably null Het
Inppl1 A G 7: 101,472,783 (GRCm39) I1207T possibly damaging Het
Kmt2c T A 5: 25,519,537 (GRCm39) Q2191L probably damaging Het
Krt79 T A 15: 101,848,705 (GRCm39) probably null Het
Mast4 G A 13: 102,872,247 (GRCm39) L2374F probably damaging Het
Mgam A G 6: 40,657,169 (GRCm39) N951S probably benign Het
Myl10 G C 5: 136,726,825 (GRCm39) V70L probably benign Het
Naip6 A T 13: 100,431,344 (GRCm39) C1164* probably null Het
Nfatc2ip G T 7: 125,989,906 (GRCm39) D189E probably damaging Het
Nrp1 A G 8: 129,184,438 (GRCm39) D361G probably damaging Het
Nrp2 T C 1: 62,786,374 (GRCm39) I293T probably damaging Het
Pate5 A T 9: 35,750,719 (GRCm39) F34L possibly damaging Het
Pde3a T C 6: 141,433,611 (GRCm39) V831A probably damaging Het
Pirb A G 7: 3,715,905 (GRCm39) probably null Het
Plch1 G T 3: 63,610,047 (GRCm39) probably null Het
Plekhh2 A G 17: 84,898,277 (GRCm39) T973A possibly damaging Het
Ppp1r35 T A 5: 137,778,296 (GRCm39) I97K unknown Het
Ppp1r3c C T 19: 36,710,846 (GRCm39) G308E probably benign Het
Prss12 G A 3: 123,258,611 (GRCm39) probably null Het
Rad51b A G 12: 79,361,715 (GRCm39) D142G probably damaging Het
Slc13a3 C T 2: 165,248,745 (GRCm39) G553D probably damaging Het
Spata31d1d A C 13: 59,879,344 (GRCm39) V64G probably benign Het
Srp68 G A 11: 116,164,809 (GRCm39) R42C probably damaging Het
Syne2 T C 12: 76,062,365 (GRCm39) V4229A probably benign Het
Tas2r144 G A 6: 42,192,325 (GRCm39) V22M probably damaging Het
Tcf7l1 A G 6: 72,604,395 (GRCm39) L583P probably damaging Het
Tdrd3 A G 14: 87,749,214 (GRCm39) D708G probably benign Het
Tns4 A T 11: 98,976,627 (GRCm39) L98Q probably damaging Het
Zfp677 T A 17: 21,612,717 (GRCm39) probably null Het
Other mutations in Hgsnat
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00661:Hgsnat APN 8 26,462,965 (GRCm39) missense probably benign 0.04
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
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
Predicted Primers PCR Primer
(F):5'- CCATGCATGGTGGTACATATTTG -3'
(R):5'- CGCATCTCCATGTATACTTGTGTG -3'

Sequencing Primer
(F):5'- AATATCAGCAGGTGGATCCTTTGGAC -3'
(R):5'- CTCAGAGATCTACACTGGGGTTAC -3'
Posted On 2020-07-13