Incidental Mutation 'R9504:Sgsh'
ID 717740
Institutional Source Beutler Lab
Gene Symbol Sgsh
Ensembl Gene ENSMUSG00000005043
Gene Name N-sulfoglucosamine sulfohydrolase (sulfamidase)
Synonyms sulphamidase, 4632406A19Rik
MMRRC Submission
Accession Numbers
Essential gene? Probably non essential (E-score: 0.107) question?
Stock # R9504 (G1)
Quality Score 225.009
Status Not validated
Chromosome 11
Chromosomal Location 119234315-119246336 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 119237375 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Serine at position 413 (N413S)
Ref Sequence ENSEMBL: ENSMUSP00000005173 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000005173] [ENSMUST00000053245] [ENSMUST00000100172] [ENSMUST00000106250] [ENSMUST00000136523]
AlphaFold Q9EQ08
Predicted Effect probably benign
Transcript: ENSMUST00000005173
AA Change: N413S

PolyPhen 2 Score 0.233 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000005173
Gene: ENSMUSG00000005043
AA Change: N413S

DomainStartEndE-ValueType
Pfam:Sulfatase 23 328 2.6e-60 PFAM
Pfam:Phosphodiest 25 287 5.2e-8 PFAM
low complexity region 348 357 N/A INTRINSIC
Pfam:DUF4976 400 477 1.5e-12 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000053245
SMART Domains Protein: ENSMUSP00000053665
Gene: ENSMUSG00000013483

DomainStartEndE-ValueType
Pfam:CARD 20 106 4.1e-25 PFAM
coiled coil region 126 173 N/A INTRINSIC
low complexity region 240 250 N/A INTRINSIC
low complexity region 262 275 N/A INTRINSIC
coiled coil region 280 377 N/A INTRINSIC
low complexity region 438 450 N/A INTRINSIC
low complexity region 473 483 N/A INTRINSIC
low complexity region 541 551 N/A INTRINSIC
PDZ 578 657 5.51e-3 SMART
Blast:SH3 676 735 4e-25 BLAST
low complexity region 736 746 N/A INTRINSIC
low complexity region 816 825 N/A INTRINSIC
Blast:GuKc 826 989 4e-63 BLAST
SCOP:d1kjwa2 855 994 2e-11 SMART
Predicted Effect silent
Transcript: ENSMUST00000100172
SMART Domains Protein: ENSMUSP00000097748
Gene: ENSMUSG00000005043

DomainStartEndE-ValueType
Pfam:Sulfatase 23 250 1.7e-35 PFAM
Pfam:Phosphodiest 25 237 2.7e-8 PFAM
low complexity region 311 329 N/A INTRINSIC
low complexity region 395 408 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000106250
SMART Domains Protein: ENSMUSP00000101857
Gene: ENSMUSG00000013483

DomainStartEndE-ValueType
Pfam:CARD 20 106 2.8e-25 PFAM
coiled coil region 126 173 N/A INTRINSIC
low complexity region 240 250 N/A INTRINSIC
low complexity region 262 275 N/A INTRINSIC
coiled coil region 280 377 N/A INTRINSIC
low complexity region 438 450 N/A INTRINSIC
low complexity region 473 483 N/A INTRINSIC
low complexity region 541 551 N/A INTRINSIC
PDZ 578 657 5.51e-3 SMART
Blast:SH3 676 735 4e-25 BLAST
low complexity region 736 746 N/A INTRINSIC
low complexity region 816 825 N/A INTRINSIC
Blast:GuKc 826 989 4e-63 BLAST
SCOP:d1kjwa2 855 994 2e-11 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000136523
SMART Domains Protein: ENSMUSP00000115587
Gene: ENSMUSG00000005043

DomainStartEndE-ValueType
PDB:4MIV|H 1 30 1e-5 PDB
low complexity region 40 56 N/A INTRINSIC
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 98.9%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes one of several enzymes involved in the lysosomal degradation of heparan sulfate. Mutations in this gene are associated with Sanfilippo syndrome A, one type of the lysosomal storage disease mucopolysaccaridosis III, which results from impaired degradation of heparan sulfate. Transcripts of varying sizes have been reported but their biological validity has not been determined. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a spontaneous allele die prematurely displaying low sulfamidase activity, variable lysosomal storage in various brain cell types and other tissues, heparan sulfate-uria, scruffy coats, corneal opacities, bladder distension, hydronephrosis, hepatosplenomegaly and bone deformities. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aldh1b1 T C 4: 45,802,905 (GRCm39) Y148H probably damaging Het
Ankib1 A G 5: 3,763,235 (GRCm39) V498A probably benign Het
Atp6v0c A G 17: 24,383,493 (GRCm39) V118A possibly damaging Het
Bcan G A 3: 87,900,748 (GRCm39) P495L probably benign Het
Bnip3l G A 14: 67,246,214 (GRCm39) P7L possibly damaging Het
Ccdc178 T C 18: 22,238,708 (GRCm39) E303G possibly damaging Het
Ccdc47 T C 11: 106,101,155 (GRCm39) N169S probably benign Het
Cldn23 A T 8: 36,293,470 (GRCm39) V6E probably damaging Het
Dip2a T C 10: 76,132,189 (GRCm39) T560A probably damaging Het
Ephb3 A G 16: 21,036,830 (GRCm39) S352G possibly damaging Het
Far2 C A 6: 148,059,453 (GRCm39) A256E probably damaging Het
Gga1 C T 15: 78,767,528 (GRCm39) R89C probably damaging Het
Hbb-bh2 A G 7: 103,489,339 (GRCm39) S71P probably damaging Het
Lama1 T A 17: 68,128,661 (GRCm39) V3006D Het
Lypd9 A G 11: 58,337,215 (GRCm39) V86A probably benign Het
Mrm1 G A 11: 84,710,132 (GRCm39) R23W probably damaging Het
Nod2 A T 8: 89,391,906 (GRCm39) I738F probably damaging Het
Or1p1b C T 11: 74,131,094 (GRCm39) R235C probably benign Het
Or4c35 G T 2: 89,808,497 (GRCm39) C125F probably damaging Het
Or8b4 A G 9: 37,830,163 (GRCm39) D70G probably damaging Het
Pkd1l1 A G 11: 8,815,631 (GRCm39) W1877R Het
Psmd2 C T 16: 20,478,160 (GRCm39) A515V probably benign Het
Samd9l A G 6: 3,372,621 (GRCm39) Y1547H probably benign Het
Slmap G A 14: 26,136,133 (GRCm39) P819L probably damaging Het
Steap4 A G 5: 8,030,538 (GRCm39) N465D probably benign Het
Sult3a2 T C 10: 33,642,436 (GRCm39) N289S probably benign Het
Tbx2 T A 11: 85,724,038 (GRCm39) S36T possibly damaging Het
Tcstv1a G A 13: 120,355,267 (GRCm39) Q122* probably null Het
Tnk2 T C 16: 32,498,961 (GRCm39) V758A possibly damaging Het
Trrap C T 5: 144,742,904 (GRCm39) T1425M probably damaging Het
Ttc9b A G 7: 27,354,394 (GRCm39) K160R probably damaging Het
Vinac1 C T 2: 128,881,189 (GRCm39) A246T Het
Zfp959 T A 17: 56,204,793 (GRCm39) Y277N probably benign Het
Other mutations in Sgsh
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00954:Sgsh APN 11 119,237,311 (GRCm39) missense probably benign
IGL01549:Sgsh APN 11 119,241,755 (GRCm39) missense probably damaging 0.99
IGL02110:Sgsh APN 11 119,243,632 (GRCm39) missense probably damaging 1.00
IGL02878:Sgsh APN 11 119,237,384 (GRCm39) missense probably damaging 1.00
hindenburg UTSW 11 119,241,773 (GRCm39) missense probably damaging 1.00
ludendorff UTSW 11 119,237,183 (GRCm39) missense probably damaging 1.00
BB005:Sgsh UTSW 11 119,238,561 (GRCm39) missense probably benign 0.03
BB015:Sgsh UTSW 11 119,238,561 (GRCm39) missense probably benign 0.03
R1187:Sgsh UTSW 11 119,237,404 (GRCm39) nonsense probably null
R2342:Sgsh UTSW 11 119,238,540 (GRCm39) missense probably benign 0.01
R2472:Sgsh UTSW 11 119,246,300 (GRCm39) missense possibly damaging 0.83
R2571:Sgsh UTSW 11 119,241,340 (GRCm39) missense probably damaging 1.00
R3872:Sgsh UTSW 11 119,241,773 (GRCm39) missense probably damaging 1.00
R3873:Sgsh UTSW 11 119,241,773 (GRCm39) missense probably damaging 1.00
R3874:Sgsh UTSW 11 119,241,773 (GRCm39) missense probably damaging 1.00
R3875:Sgsh UTSW 11 119,241,773 (GRCm39) missense probably damaging 1.00
R5075:Sgsh UTSW 11 119,237,594 (GRCm39) missense probably benign 0.34
R5660:Sgsh UTSW 11 119,241,807 (GRCm39) missense probably damaging 1.00
R5938:Sgsh UTSW 11 119,237,625 (GRCm39) missense probably benign 0.08
R7302:Sgsh UTSW 11 119,238,525 (GRCm39) missense probably benign 0.02
R7484:Sgsh UTSW 11 119,237,183 (GRCm39) missense probably damaging 1.00
R7533:Sgsh UTSW 11 119,238,696 (GRCm39) missense probably damaging 1.00
R7552:Sgsh UTSW 11 119,237,378 (GRCm39) missense probably damaging 1.00
R7928:Sgsh UTSW 11 119,238,561 (GRCm39) missense probably benign 0.03
R7958:Sgsh UTSW 11 119,243,599 (GRCm39) missense probably damaging 0.98
R8013:Sgsh UTSW 11 119,243,521 (GRCm39) missense probably damaging 0.97
R8014:Sgsh UTSW 11 119,243,521 (GRCm39) missense probably damaging 0.97
R8912:Sgsh UTSW 11 119,243,486 (GRCm39) missense probably damaging 1.00
R9584:Sgsh UTSW 11 119,241,789 (GRCm39) missense possibly damaging 0.60
Predicted Primers PCR Primer
(F):5'- ATTGCCACTTGACAAGCTGAGC -3'
(R):5'- AAGACGATCCAGCTCACAGG -3'

Sequencing Primer
(F):5'- CTTTCAGCATCTCCAGCACTTGAG -3'
(R):5'- GATCCAGCTCACAGGCCGATC -3'
Posted On 2022-07-18