Incidental Mutation 'R4358:Ids'
ID 324681
Institutional Source Beutler Lab
Gene Symbol Ids
Ensembl Gene ENSMUSG00000035847
Gene Name iduronate 2-sulfatase
Synonyms
MMRRC Submission 041110-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.188) question?
Stock # R4358 (G1)
Quality Score 222
Status Validated
Chromosome X
Chromosomal Location 69386675-69408690 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 69389950 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glycine to Cysteine at position 506 (G506C)
Ref Sequence ENSEMBL: ENSMUSP00000099046 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000101509]
AlphaFold Q08890
Predicted Effect probably damaging
Transcript: ENSMUST00000101509
AA Change: G506C

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000099046
Gene: ENSMUSG00000035847
AA Change: G506C

DomainStartEndE-ValueType
signal peptide 1 25 N/A INTRINSIC
Pfam:Sulfatase 39 418 9.9e-57 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000130519
SMART Domains Protein: ENSMUSP00000118732
Gene: ENSMUSG00000035847

DomainStartEndE-ValueType
Pfam:Sulfatase 2 236 7.2e-21 PFAM
Meta Mutation Damage Score 0.5095 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.8%
Validation Efficiency 98% (48/49)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the sulfatase family of proteins. The encoded preproprotein is proteolytically processed to generate two polypeptide chains. This enzyme is involved in the lysosomal degradation of heparan sulfate and dermatan sulfate. Mutations in this gene are associated with the X-linked lysosomal storage disease mucopolysaccharidosis type II, also known as Hunter syndrome. Alternative splicing results in multiple transcript variants, at least one of which encodes a preproprotein that is proteolytically processed. [provided by RefSeq, Jan 2016]
PHENOTYPE: Mice with homozygous disruption of this gene display lysosomal accumulation of glycosaminoglycans in multiple tissues, premature death, impaired locomotor activity, joint swelling, and skeletal defects. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Alpk1 C T 3: 127,523,022 (GRCm39) V7M probably damaging Het
Birc6 T A 17: 74,926,663 (GRCm39) probably null Het
Chil3 G A 3: 106,067,815 (GRCm39) Q117* probably null Het
Daglb T C 5: 143,458,889 (GRCm39) probably benign Het
Dnah11 G A 12: 118,089,578 (GRCm39) R1163* probably null Het
Ftsj3 G A 11: 106,144,502 (GRCm39) A134V probably benign Het
G530012D18Rik G C 1: 85,504,923 (GRCm39) probably benign Het
Gfod2 T C 8: 106,444,177 (GRCm39) N122S possibly damaging Het
Golga4 A G 9: 118,380,946 (GRCm39) E507G probably benign Het
Ifna15 G T 4: 88,476,079 (GRCm39) T135N probably benign Het
Igsf9b G A 9: 27,220,774 (GRCm39) V47I possibly damaging Het
Kif24 A G 4: 41,413,827 (GRCm39) probably null Het
L3hypdh A T 12: 72,124,198 (GRCm39) D247E probably damaging Het
Lama2 A T 10: 26,860,489 (GRCm39) N2999K probably damaging Het
Lpcat2 C A 8: 93,599,734 (GRCm39) P234Q probably benign Het
Lrp10 C T 14: 54,705,823 (GRCm39) R338C probably damaging Het
Mcm9 A C 10: 53,413,749 (GRCm39) C444G probably benign Het
Mecom G A 3: 30,033,934 (GRCm39) Q246* probably null Het
Mib1 A G 18: 10,751,844 (GRCm39) N242S probably benign Het
Or2a7 T A 6: 43,151,160 (GRCm39) M80K probably damaging Het
Or8g26 G A 9: 39,095,864 (GRCm39) C127Y probably damaging Het
P3h4 A G 11: 100,304,452 (GRCm39) F263S probably damaging Het
Pcsk1 T C 13: 75,260,838 (GRCm39) S354P possibly damaging Het
Pms2 T A 5: 143,862,744 (GRCm39) F617Y probably damaging Het
Prps2 T A X: 166,146,545 (GRCm39) K176* probably null Het
Psmd13 G T 7: 140,469,418 (GRCm39) probably benign Het
Pygl G A 12: 70,242,464 (GRCm39) S573L probably damaging Het
Rapgef3 A G 15: 97,646,529 (GRCm39) V794A probably benign Het
Rasgrf2 C A 13: 92,038,796 (GRCm39) D1017Y probably damaging Het
Rb1cc1 A G 1: 6,315,861 (GRCm39) D555G probably damaging Het
Rptor G T 11: 119,562,171 (GRCm39) E111D probably damaging Het
Sall4 T C 2: 168,597,400 (GRCm39) E480G probably benign Het
Scn4a G A 11: 106,239,683 (GRCm39) probably null Het
Scn8a G A 15: 100,838,014 (GRCm39) A94T probably benign Het
Slc26a6 T A 9: 108,738,982 (GRCm39) C636S probably benign Het
Slc38a11 T C 2: 65,188,460 (GRCm39) K103R probably benign Het
Sned1 T C 1: 93,202,381 (GRCm39) L675P probably benign Het
Spsb1 T C 4: 149,991,232 (GRCm39) H112R probably damaging Het
Tmem132d G A 5: 128,061,405 (GRCm39) T399M possibly damaging Het
Zfp939 A G 7: 39,123,144 (GRCm39) noncoding transcript Het
Zfp951 T C 5: 104,962,541 (GRCm39) K342E probably damaging Het
Other mutations in Ids
AlleleSourceChrCoordTypePredicted EffectPPH Score
R1081:Ids UTSW X 69,404,716 (GRCm39) missense possibly damaging 0.63
R2853:Ids UTSW X 69,396,776 (GRCm39) missense probably damaging 1.00
R4356:Ids UTSW X 69,389,950 (GRCm39) missense probably damaging 0.99
R4357:Ids UTSW X 69,389,950 (GRCm39) missense probably damaging 0.99
Predicted Primers PCR Primer
(F):5'- CACATATGTGCCCACTGAGG -3'
(R):5'- CATGTTGAGCTTTGCAGAGAAG -3'

Sequencing Primer
(F):5'- ACTGAGGCTGGCAGAACTC -3'
(R):5'- GAAGCATTTGCAGCTCCATG -3'
Posted On 2015-06-24