Incidental Mutation 'IGL01904:Hs3st2'
ID179621
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Hs3st2
Ensembl Gene ENSMUSG00000046321
Gene Nameheparan sulfate (glucosamine) 3-O-sulfotransferase 2
Synonyms
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL01904
Quality Score
Status
Chromosome7
Chromosomal Location121391859-121501770 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 121500984 bp
ZygosityHeterozygous
Amino Acid Change Proline to Leucine at position 351 (P351L)
Ref Sequence ENSEMBL: ENSMUSP00000081678 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000084628]
Predicted Effect probably damaging
Transcript: ENSMUST00000084628
AA Change: P351L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000081678
Gene: ENSMUSG00000046321
AA Change: P351L

DomainStartEndE-ValueType
transmembrane domain 20 39 N/A INTRINSIC
Pfam:Sulfotransfer_3 47 295 2e-9 PFAM
Pfam:Sulfotransfer_1 114 362 3.1e-49 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000205739
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Heparan sulfate biosynthetic enzymes are key components in generating a myriad of distinct heparan sulfate fine structures that carry out multiple biologic activities. The enzyme encoded by this gene is a member of the heparan sulfate biosynthetic enzyme family. It is a type II integral membrane protein and possesses heparan sulfate glucosaminyl 3-O-sulfotransferase activity. This gene is expressed predominantly in brain and may play a role in the nervous system. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a targeted allele exhibit no abnormal phenotype. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 24 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933402N22Rik A C 5: 11,921,456 N125T probably benign Het
Dnah5 T C 15: 28,307,364 I1746T probably benign Het
Eml3 T C 19: 8,936,766 probably benign Het
Eml6 C A 11: 29,838,613 E491* probably null Het
Gm10717 C T 9: 3,025,616 S67L probably benign Het
Gm10718 A T 9: 3,025,118 Y194F probably benign Het
Gm21738 G A 14: 19,416,979 S144L probably benign Het
Igf2r A T 17: 12,714,911 Y819N probably damaging Het
Kifc3 C A 8: 95,137,957 A42S possibly damaging Het
Mrps17 A G 5: 129,716,801 T20A probably damaging Het
Msh6 T C 17: 87,984,732 V305A probably benign Het
Olfr449 T C 6: 42,838,289 M136T possibly damaging Het
Olfr872 T G 9: 20,260,290 M150R probably damaging Het
Pappa2 A G 1: 158,783,941 L1484P probably damaging Het
Polr3c A T 3: 96,716,665 probably null Het
Ros1 C A 10: 52,077,911 E1877D probably damaging Het
Slc5a4b T C 10: 76,060,426 N565S probably damaging Het
Slf2 T C 19: 44,949,141 probably null Het
Suclg2 A T 6: 95,588,934 probably benign Het
Sult2a8 T C 7: 14,425,457 E79G probably damaging Het
Triobp A G 15: 78,967,364 T573A possibly damaging Het
Vmn2r-ps159 C T 4: 156,338,254 noncoding transcript Het
Zfand5 C T 19: 21,279,758 probably benign Het
Zfhx4 C A 3: 5,412,709 H3461Q probably damaging Het
Other mutations in Hs3st2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03356:Hs3st2 APN 7 121393166 missense probably damaging 1.00
R0469:Hs3st2 UTSW 7 121500569 missense probably damaging 1.00
R0510:Hs3st2 UTSW 7 121500569 missense probably damaging 1.00
R0849:Hs3st2 UTSW 7 121501032 missense possibly damaging 0.89
R3001:Hs3st2 UTSW 7 121500687 missense probably damaging 0.97
R3002:Hs3st2 UTSW 7 121500687 missense probably damaging 0.97
R4056:Hs3st2 UTSW 7 121500702 missense probably damaging 1.00
R4997:Hs3st2 UTSW 7 121500456 missense possibly damaging 0.95
R5705:Hs3st2 UTSW 7 121393082 missense probably damaging 1.00
R6016:Hs3st2 UTSW 7 121500699 missense probably damaging 1.00
R6821:Hs3st2 UTSW 7 121500522 missense possibly damaging 0.94
R7404:Hs3st2 UTSW 7 121500945 missense possibly damaging 0.67
X0067:Hs3st2 UTSW 7 121500536 missense probably damaging 0.97
Posted On2014-05-07