Incidental Mutation 'R1081:Ids'
ID 152729
Institutional Source Beutler Lab
Gene Symbol Ids
Ensembl Gene ENSMUSG00000035847
Gene Name iduronate 2-sulfatase
Synonyms
MMRRC Submission 039167-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.164) question?
Stock # R1081 (G1)
Quality Score 222
Status Not validated
Chromosome X
Chromosomal Location 69386675-69408690 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 69404716 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 149 (D149G)
Ref Sequence ENSEMBL: ENSMUSP00000099046 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000101509]
AlphaFold Q08890
Predicted Effect possibly damaging
Transcript: ENSMUST00000101509
AA Change: D149G

PolyPhen 2 Score 0.627 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000099046
Gene: ENSMUSG00000035847
AA Change: D149G

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
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.2%
  • 10x: 96.0%
  • 20x: 91.8%
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: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700003E16Rik A G 6: 83,139,002 (GRCm39) E309G probably benign Het
Abr T C 11: 76,346,441 (GRCm39) K448E probably damaging Het
Atxn2l T C 7: 126,093,384 (GRCm39) Y785C probably damaging Het
Atxn3 T G 12: 101,900,608 (GRCm39) D225A probably damaging Het
Cdh15 G C 8: 123,584,234 (GRCm39) E112Q probably damaging Het
Cntnap5c A G 17: 58,612,520 (GRCm39) D853G possibly damaging Het
Dnah9 A G 11: 65,975,703 (GRCm39) Y1449H probably damaging Het
Dsc2 T G 18: 20,166,352 (GRCm39) T760P probably damaging Het
Dync2h1 A T 9: 7,005,488 (GRCm39) probably null Het
Epg5 T C 18: 78,002,748 (GRCm39) F611L possibly damaging Het
Fat3 T C 9: 16,286,580 (GRCm39) D981G possibly damaging Het
Gimap3 A T 6: 48,742,086 (GRCm39) C281* probably null Het
Inpp4b A G 8: 82,795,653 (GRCm39) I826V probably damaging Het
Kcnrg C A 14: 61,845,163 (GRCm39) H68N possibly damaging Het
Klra6 A G 6: 129,999,588 (GRCm39) Y127H probably damaging Het
Lypd10 T C 7: 24,412,967 (GRCm39) probably null Het
Mepce A G 5: 137,782,958 (GRCm39) L456P probably damaging Het
Mink1 T C 11: 70,497,861 (GRCm39) L488P probably benign Het
Mndal T A 1: 173,687,788 (GRCm39) E482V probably benign Het
Mob1b G A 5: 88,901,021 (GRCm39) V143I probably benign Het
Msh4 T C 3: 153,577,995 (GRCm39) E433G probably benign Het
Myof A T 19: 37,974,536 (GRCm39) I201N probably damaging Het
Naip1 G A 13: 100,559,578 (GRCm39) S1142F probably benign Het
Ntsr1 G A 2: 180,180,549 (GRCm39) S285N probably benign Het
Or2ak6 C T 11: 58,593,324 (GRCm39) H266Y probably damaging Het
Or4k2 A G 14: 50,424,654 (GRCm39) S7P probably damaging Het
Or51b4 T A 7: 103,531,384 (GRCm39) H22L possibly damaging Het
Or52ab7 A G 7: 102,978,245 (GRCm39) Y184C probably damaging Het
P2rx4 A G 5: 122,865,296 (GRCm39) E307G probably damaging Het
Pcdh15 A G 10: 74,286,145 (GRCm39) D793G probably damaging Het
Rpap1 G A 2: 119,601,750 (GRCm39) R737W probably damaging Het
Rpusd4 A G 9: 35,186,384 (GRCm39) K307E probably benign Het
Shtn1 T A 19: 58,963,447 (GRCm39) T623S probably benign Het
Sntg1 A G 1: 8,515,343 (GRCm39) C397R possibly damaging Het
Stat5a T C 11: 100,771,886 (GRCm39) F646S probably damaging Het
Tacc2 A G 7: 130,330,304 (GRCm39) E196G possibly damaging Het
Tcf25 T C 8: 124,108,212 (GRCm39) V89A probably benign Het
Trim7 G T 11: 48,740,532 (GRCm39) V210L probably damaging Het
Vmn2r57 A G 7: 41,077,635 (GRCm39) M177T possibly damaging Het
Wwc2 G A 8: 48,281,799 (GRCm39) probably benign Het
Zfp28 A G 7: 6,392,779 (GRCm39) I152V possibly damaging Het
Zfp628 A G 7: 4,923,182 (GRCm39) H468R probably damaging Het
Zfp770 A G 2: 114,027,608 (GRCm39) Y154H probably damaging Het
Other mutations in Ids
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
R4358:Ids UTSW X 69,389,950 (GRCm39) missense probably damaging 0.99
Predicted Primers PCR Primer
(F):5'- CCTCAGTTGTGCCTCATTAGACTAGC -3'
(R):5'- AGATCGCCCACTTCCAAGGCTTAG -3'

Sequencing Primer
(F):5'- gcaagttccaaaccagcc -3'
(R):5'- ATGGaaacattatctatcttgccg -3'
Posted On 2014-01-29