Incidental Mutation 'IGL02436:Hs6st2'
ID293283
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Hs6st2
Ensembl Gene ENSMUSG00000062184
Gene Nameheparan sulfate 6-O-sulfotransferase 2
Synonyms6OST2
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL02436
Quality Score
Status
ChromosomeX
Chromosomal Location51387212-51681856 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to G at 51680014 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Proline at position 275 (T275P)
Ref Sequence ENSEMBL: ENSMUSP00000110521 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000088172] [ENSMUST00000114871]
Predicted Effect possibly damaging
Transcript: ENSMUST00000088172
AA Change: T275P

PolyPhen 2 Score 0.593 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000085497
Gene: ENSMUSG00000062184
AA Change: T275P

DomainStartEndE-ValueType
low complexity region 78 107 N/A INTRINSIC
transmembrane domain 154 173 N/A INTRINSIC
Pfam:Sulfotransfer_2 219 531 1.1e-77 PFAM
low complexity region 571 604 N/A INTRINSIC
low complexity region 622 640 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000114871
AA Change: T275P

PolyPhen 2 Score 0.593 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000110521
Gene: ENSMUSG00000062184
AA Change: T275P

DomainStartEndE-ValueType
low complexity region 78 107 N/A INTRINSIC
transmembrane domain 154 173 N/A INTRINSIC
Pfam:Sulfotransfer_2 219 491 1.3e-78 PFAM
low complexity region 531 564 N/A INTRINSIC
low complexity region 582 600 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000140145
Predicted Effect noncoding transcript
Transcript: ENSMUST00000142738
Predicted Effect noncoding transcript
Transcript: ENSMUST00000142983
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 proteoglycans are ubiquitous components of the cell surface, extracellular matrix, and basement membranes, and interact with various ligands to influence cell growth, differentiation, adhesion, and migration. This gene encodes a member of the heparan sulfate (HS) sulfotransferase gene family, which catalyze the transfer of sulfate to HS. Different family members and isoforms are thought to synthesize heparan sulfates with tissue-specific structures and functions. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Female homozygous or male hemizygous mice for a disruption in this gene display a normal phenotype. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 22 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
BC005561 T A 5: 104,521,155 I1181K probably benign Het
Carm1 A T 9: 21,579,462 R209W probably damaging Het
Clec4a2 A G 6: 123,140,678 D185G possibly damaging Het
Csgalnact1 C A 8: 68,401,492 G219V probably damaging Het
Dyrk3 A G 1: 131,128,865 S524P probably benign Het
Fam46c C A 3: 100,472,507 R311L probably benign Het
Gm17175 A T 14: 51,569,651 probably benign Het
Hdx A T X: 111,600,748 D512E probably damaging Het
Hus1 T C 11: 9,006,057 I159V possibly damaging Het
Lrrc37a T C 11: 103,498,177 T2141A unknown Het
Ncoa7 A T 10: 30,694,147 I272N probably damaging Het
Olfr286 G T 15: 98,227,290 C118* probably null Het
P3h2 T C 16: 25,997,200 K188E probably benign Het
Pcsk5 A G 19: 17,564,708 probably null Het
Pramef12 G T 4: 144,392,969 P343T possibly damaging Het
Scn1a G A 2: 66,351,153 P9S probably benign Het
Slc7a9 C A 7: 35,457,053 L307I probably benign Het
Srebf2 G A 15: 82,197,727 G87S probably benign Het
Srrm1 G A 4: 135,325,104 P658L unknown Het
Tex30 T C 1: 44,088,505 probably null Het
Tnrc6a C T 7: 123,184,215 R970* probably null Het
Vgll2 A T 10: 52,025,222 R83* probably null Het
Other mutations in Hs6st2
AlleleSourceChrCoordTypePredicted EffectPPH Score
R3413:Hs6st2 UTSW X 51681455 missense possibly damaging 0.88
X0057:Hs6st2 UTSW X 51680310 missense probably damaging 1.00
Posted On2015-04-16