Incidental Mutation 'R2853:Ids'
ID 252440
Institutional Source Beutler Lab
Gene Symbol Ids
Ensembl Gene ENSMUSG00000035847
Gene Name iduronate 2-sulfatase
Synonyms
MMRRC Submission 040446-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.188) question?
Stock # R2853 (G1)
Quality Score 222
Status Not validated
Chromosome X
Chromosomal Location 69386675-69408690 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 69396776 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Lysine at position 329 (T329K)
Ref Sequence ENSEMBL: ENSMUSP00000099046 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000101509]
AlphaFold Q08890
Predicted Effect probably damaging
Transcript: ENSMUST00000101509
AA Change: T329K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000099046
Gene: ENSMUSG00000035847
AA Change: T329K

DomainStartEndE-ValueType
signal peptide 1 25 N/A INTRINSIC
Pfam:Sulfatase 39 418 9.9e-57 PFAM
Predicted Effect unknown
Transcript: ENSMUST00000130519
AA Change: T217K
SMART Domains Protein: ENSMUSP00000118732
Gene: ENSMUSG00000035847
AA Change: T217K

DomainStartEndE-ValueType
Pfam:Sulfatase 2 236 7.2e-21 PFAM
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.1%
Validation Efficiency
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: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abat A C 16: 8,418,832 (GRCm39) K142T probably damaging Het
Als2cl T C 9: 110,723,203 (GRCm39) S636P probably damaging Het
Angptl7 T C 4: 148,584,736 (GRCm39) E4G probably benign Het
Aph1c T C 9: 66,741,764 (GRCm39) probably null Het
Arhgap23 T C 11: 97,383,420 (GRCm39) probably null Het
Arhgef4 A C 1: 34,763,129 (GRCm39) D795A unknown Het
Atosb A G 4: 43,036,293 (GRCm39) L146P probably benign Het
Ccdc85a A G 11: 28,342,942 (GRCm39) probably benign Het
Chchd1 T C 14: 20,754,288 (GRCm39) S67P probably benign Het
Cubn C T 2: 13,435,645 (GRCm39) V1104I probably benign Het
Dennd5a A T 7: 109,532,878 (GRCm39) N297K probably damaging Het
Dnai4 T C 4: 102,907,355 (GRCm39) I644V possibly damaging Het
Egflam A T 15: 7,249,182 (GRCm39) W879R probably damaging Het
Far1 T C 7: 113,152,944 (GRCm39) Y351H possibly damaging Het
Gpr62 T C 9: 106,341,911 (GRCm39) E339G probably benign Het
Hspd1 A T 1: 55,120,256 (GRCm39) D315E probably damaging Het
Itga9 G A 9: 118,465,604 (GRCm39) E153K probably damaging Het
Krt82 T C 15: 101,456,870 (GRCm39) Y170C probably damaging Het
Megf10 T C 18: 57,427,003 (GRCm39) I1107T probably damaging Het
Mre11a A G 9: 14,737,843 (GRCm39) E599G probably benign Het
Mtm1 T G X: 70,345,389 (GRCm39) I437S probably damaging Het
Ncoa2 C T 1: 13,257,113 (GRCm39) V129I probably damaging Het
Ncs1 T C 2: 31,177,329 (GRCm39) F169L probably damaging Het
Ndst2 T C 14: 20,779,964 (GRCm39) E92G probably damaging Het
Parm1 T C 5: 91,742,124 (GRCm39) V164A probably benign Het
Pkhd1 T C 1: 20,128,526 (GRCm39) Q4059R probably benign Het
Scgb1b20 A C 7: 33,072,949 (GRCm39) K52N possibly damaging Het
Setbp1 T A 18: 78,967,211 (GRCm39) Q171L probably benign Het
Sik2 A T 9: 50,809,597 (GRCm39) L612Q probably damaging Het
Srprb G A 9: 103,076,038 (GRCm39) Q800* probably null Het
Ss18l1 A G 2: 179,699,914 (GRCm39) Y258C probably damaging Het
Togaram1 A G 12: 65,063,386 (GRCm39) K1567R probably benign Het
Ttc6 T C 12: 57,622,967 (GRCm39) F122S probably damaging Het
Vmn2r85 T A 10: 130,255,035 (GRCm39) M550L probably benign Het
Other mutations in Ids
AlleleSourceChrCoordTypePredicted EffectPPH Score
R1081:Ids UTSW X 69,404,716 (GRCm39) missense possibly damaging 0.63
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
R4358:Ids UTSW X 69,389,950 (GRCm39) missense probably damaging 0.99
Predicted Primers PCR Primer
(F):5'- TCCAAGATGGAGGTGCACAAAC -3'
(R):5'- TCTGGACTCTGCAGGCAAAG -3'

Sequencing Primer
(F):5'- GGTGCACAAACAACTAAGTTGC -3'
(R):5'- GAGAAATGCTTGTTCAGGTAGC -3'
Posted On 2014-12-04