Incidental Mutation 'R4356:Ids'
ID 327579
Institutional Source Beutler Lab
Gene Symbol Ids
Ensembl Gene ENSMUSG00000035847
Gene Name iduronate 2-sulfatase
Synonyms
MMRRC Submission 041669-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.188) question?
Stock # R4356 (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: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 95.0%
Validation Efficiency 100% (58/58)
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: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadacl2fm1 T A 3: 59,843,701 (GRCm39) Y132N probably damaging Het
Adam21 T C 12: 81,605,594 (GRCm39) T723A probably damaging Het
Alox5 C T 6: 116,397,219 (GRCm39) V322I probably benign Het
Alpk1 C T 3: 127,523,022 (GRCm39) V7M probably damaging Het
Ankhd1 A T 18: 36,776,096 (GRCm39) K1482* probably null Het
Cacna1e A C 1: 154,319,727 (GRCm39) D1324E probably damaging Het
Ccdc150 A G 1: 54,392,213 (GRCm39) D657G probably damaging Het
Celsr1 A G 15: 85,863,028 (GRCm39) S1335P probably damaging Het
Cfhr4 T A 1: 139,660,048 (GRCm39) K621N probably damaging Het
Cspg5 A G 9: 110,085,245 (GRCm39) D391G probably damaging Het
Defa30 A T 8: 21,624,821 (GRCm39) D48V possibly damaging Het
E2f7 T C 10: 110,595,712 (GRCm39) Y136H probably damaging Het
Fam3d A G 14: 8,349,314 (GRCm38) L212P probably damaging Het
Fbxw25 A T 9: 109,491,153 (GRCm39) C122S probably damaging Het
Fgg A T 3: 82,920,250 (GRCm39) D343V probably damaging Het
Flnb T A 14: 7,922,700 (GRCm38) M1712K probably benign Het
Fnbp4 T C 2: 90,588,683 (GRCm39) S485P probably damaging Het
Ftsj3 G A 11: 106,144,502 (GRCm39) A134V probably benign Het
Gast C A 11: 100,227,373 (GRCm39) S22Y probably damaging Het
Gm20834 T A Y: 10,322,962 (GRCm39) H158L possibly damaging 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
Impg2 C T 16: 56,080,527 (GRCm39) T777I probably damaging Het
Kif11 C A 19: 37,399,883 (GRCm39) T790K probably benign Het
Kif24 A G 4: 41,413,827 (GRCm39) probably null Het
Klk14 G A 7: 43,341,501 (GRCm39) C51Y probably damaging Het
Lrp10 C T 14: 54,705,823 (GRCm39) R338C probably damaging Het
Mib1 A G 18: 10,751,844 (GRCm39) N242S probably benign Het
Nectin1 A G 9: 43,703,802 (GRCm39) D264G probably benign Het
Nipsnap3a T C 4: 52,995,979 (GRCm39) probably null Het
Or10al3 G T 17: 38,011,790 (GRCm39) E76D probably damaging Het
Or5w14 G A 2: 87,542,229 (GRCm39) S7F possibly damaging Het
P3h4 A G 11: 100,304,452 (GRCm39) F263S probably damaging Het
Pcdhga4 C T 18: 37,820,664 (GRCm39) H738Y probably damaging Het
Prickle2 A T 6: 92,388,490 (GRCm39) I304K probably damaging Het
Ptprq A T 10: 107,444,225 (GRCm39) Y1460N probably damaging Het
Rbl2 A G 8: 91,833,735 (GRCm39) D812G probably damaging Het
Rbm19 A G 5: 120,278,427 (GRCm39) T737A possibly damaging Het
Rbsn G A 6: 92,184,029 (GRCm39) L95F possibly damaging Het
Sall4 T C 2: 168,597,400 (GRCm39) E480G probably benign Het
Scfd1 T A 12: 51,486,068 (GRCm39) N541K probably benign Het
Scube3 G A 17: 28,383,283 (GRCm39) G442S probably benign Het
Slc15a4 A G 5: 127,681,600 (GRCm39) probably null Het
Smarcc1 A G 9: 110,025,324 (GRCm39) D667G probably damaging Het
Sned1 A T 1: 93,193,113 (GRCm39) probably null Het
Spsb1 T C 4: 149,991,232 (GRCm39) H112R probably damaging Het
Sun3 A G 11: 8,966,328 (GRCm39) V231A probably damaging Het
Vmn2r106 A T 17: 20,499,910 (GRCm39) D108E probably benign Het
Xdh A G 17: 74,222,685 (GRCm39) V560A probably benign Het
Zfp352 T A 4: 90,112,071 (GRCm39) H70Q possibly damaging Het
Zfp40 C A 17: 23,396,164 (GRCm39) C73F probably benign Het
Zfp975 A C 7: 42,311,251 (GRCm39) L454R probably damaging Het
Zik1 A T 7: 10,224,268 (GRCm39) C276* probably null 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
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'- ACATATGTGCCCACTGAGGC -3'
(R):5'- ATGTTGAGCTTTGCAGAGAAGG -3'

Sequencing Primer
(F):5'- ACTGAGGCTGGCAGAACTC -3'
(R):5'- GAAGCATTTGCAGCTCCATG -3'
Posted On 2015-07-07