Incidental Mutation 'R5938:Sgsh'
ID 462394
Institutional Source Beutler Lab
Gene Symbol Sgsh
Ensembl Gene ENSMUSG00000005043
Gene Name N-sulfoglucosamine sulfohydrolase (sulfamidase)
Synonyms sulphamidase, 4632406A19Rik
MMRRC Submission 044131-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.107) question?
Stock # R5938 (G1)
Quality Score 196
Status Validated
Chromosome 11
Chromosomal Location 119234315-119246336 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 119237625 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Histidine at position 330 (Y330H)
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: Y330H

PolyPhen 2 Score 0.077 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000005173
Gene: ENSMUSG00000005043
AA Change: Y330H

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 unknown
Transcript: ENSMUST00000100172
AA Change: V299A
SMART Domains Protein: ENSMUSP00000097748
Gene: ENSMUSG00000005043
AA Change: V299A

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 noncoding transcript
Transcript: ENSMUST00000126132
Predicted Effect noncoding transcript
Transcript: ENSMUST00000133507
Predicted Effect noncoding transcript
Transcript: ENSMUST00000141540
Predicted Effect noncoding transcript
Transcript: ENSMUST00000151052
Predicted Effect noncoding transcript
Transcript: ENSMUST00000147167
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
Meta Mutation Damage Score 0.0946 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.0%
  • 20x: 94.3%
Validation Efficiency 94% (63/67)
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: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aatf A C 11: 84,333,400 (GRCm39) D503E possibly damaging Het
Bsn C T 9: 107,990,208 (GRCm39) R1848Q possibly damaging Het
Cacna1d C T 14: 29,825,692 (GRCm39) V1001I probably damaging Het
Calhm3 T C 19: 47,140,516 (GRCm39) I192M probably damaging Het
Cep44 A G 8: 57,000,457 (GRCm39) S19P possibly damaging Het
Cxcl15 T A 5: 90,949,225 (GRCm39) I130K unknown Het
Cxcl3 C T 5: 90,934,175 (GRCm39) probably benign Het
Emc1 T G 4: 139,084,931 (GRCm39) H167Q probably benign Het
Epb41l3 T G 17: 69,566,066 (GRCm39) Y416D probably damaging Het
Erbb2 G A 11: 98,326,397 (GRCm39) R1007H probably damaging Het
Esr1 A G 10: 4,916,245 (GRCm39) probably benign Het
Fat4 G A 3: 39,005,388 (GRCm39) R1929Q probably damaging Het
Fsip2 T A 2: 82,807,835 (GRCm39) C1385S probably benign Het
Gbf1 T C 19: 46,256,891 (GRCm39) I777T probably damaging Het
Gm16092 T G 1: 85,440,689 (GRCm39) noncoding transcript Het
Greb1 T A 12: 16,767,259 (GRCm39) K314N probably damaging Het
Iigp1c C A 18: 60,378,724 (GRCm39) N86K probably damaging Het
Ipcef1 A G 10: 6,858,029 (GRCm39) probably benign Het
Iqank1 G A 15: 75,917,281 (GRCm39) E305K possibly damaging Het
Mgat4a C A 1: 37,491,344 (GRCm39) L292F probably damaging Het
Mill1 A G 7: 17,996,613 (GRCm39) N143S probably benign Het
Mindy1 A G 3: 95,201,067 (GRCm39) T324A probably benign Het
Mpdz T A 4: 81,202,851 (GRCm39) H1882L probably damaging Het
Ncapg2 T A 12: 116,393,277 (GRCm39) W494R probably damaging Het
Oas1c A T 5: 120,943,598 (GRCm39) H180Q probably benign Het
Or2q1 T A 6: 42,794,701 (GRCm39) C99S probably damaging Het
Or4c108 T C 2: 88,803,357 (GRCm39) M293V probably benign Het
Or4k49 A G 2: 111,494,708 (GRCm39) M46V probably benign Het
Or5ak20 A T 2: 85,183,620 (GRCm39) S217T probably damaging Het
Or6c88 A G 10: 129,407,396 (GRCm39) R291G probably damaging Het
Pelp1 A G 11: 70,285,693 (GRCm39) V725A probably damaging Het
Plxna4 T C 6: 32,211,541 (GRCm39) E666G probably benign Het
Pprc1 ATCCTCCTCCTCCTCCTCCTC ATCCTCCTCCTCCTCCTC 19: 46,059,755 (GRCm39) probably benign Het
Prdm16 T C 4: 154,432,411 (GRCm39) D285G probably damaging Het
Rasa2 A G 9: 96,493,442 (GRCm39) S81P possibly damaging Het
Rhd T A 4: 134,623,287 (GRCm39) F418Y probably benign Het
Rnf207 T C 4: 152,402,385 (GRCm39) probably benign Het
Rsf1 C T 7: 97,334,766 (GRCm39) R1300C probably damaging Het
Ryr1 A C 7: 28,746,290 (GRCm39) L3830R probably damaging Het
Sh3bp5 T C 14: 31,109,791 (GRCm39) E130G possibly damaging Het
Slc29a3 A G 10: 60,588,563 (GRCm39) probably benign Het
Slco1a5 A G 6: 142,194,443 (GRCm39) L400P probably damaging Het
Snd1 A G 6: 28,874,858 (GRCm39) probably null Het
Sox15 C T 11: 69,546,556 (GRCm39) R120C probably damaging Het
Srsf11 C T 3: 157,728,981 (GRCm39) probably benign Het
Tas2r110 A T 6: 132,845,016 (GRCm39) I16L probably benign Het
Tmx3 T A 18: 90,546,058 (GRCm39) V213D possibly damaging Het
Uba2 A T 7: 33,864,915 (GRCm39) probably null Het
Wfikkn1 T A 17: 26,097,886 (GRCm39) D112V probably damaging Het
Zfhx4 A G 3: 5,467,198 (GRCm39) N2452S probably damaging 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
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
R9504:Sgsh UTSW 11 119,237,375 (GRCm39) missense probably benign 0.23
R9584:Sgsh UTSW 11 119,241,789 (GRCm39) missense possibly damaging 0.60
Predicted Primers PCR Primer
(F):5'- AGCTCAGGTTGTGAATGAGG -3'
(R):5'- CAGGGCCTCTGGTTATACTG -3'

Sequencing Primer
(F):5'- TGTGAATGAGGCGGAAGTTC -3'
(R):5'- TCACTGGCCAGAGGTGATC -3'
Posted On 2017-02-28