Incidental Mutation 'IGL03356:Hs3st2'
ID 419961
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Hs3st2
Ensembl Gene ENSMUSG00000046321
Gene Name heparan sulfate (glucosamine) 3-O-sulfotransferase 2
Synonyms 6430516N12Rik, A830061E14Rik
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL03356
Quality Score
Status
Chromosome 7
Chromosomal Location 120991082-121100993 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 120992389 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 113 (E113G)
Ref Sequence ENSEMBL: ENSMUSP00000146027 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000084628] [ENSMUST00000206880]
AlphaFold Q673U1
Predicted Effect probably damaging
Transcript: ENSMUST00000084628
AA Change: E146G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000081678
Gene: ENSMUSG00000046321
AA Change: E146G

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: ENSMUST00000206060
Predicted Effect probably damaging
Transcript: ENSMUST00000206880
AA Change: E113G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
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: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A1bg A C 15: 60,791,737 (GRCm39) M233R probably benign Het
Aadat T C 8: 60,984,725 (GRCm39) M256T probably damaging Het
Adamts16 T C 13: 70,901,410 (GRCm39) N889S probably benign Het
Camkk2 A T 5: 122,881,937 (GRCm39) I235N probably damaging Het
Card6 C T 15: 5,129,723 (GRCm39) A558T probably benign Het
Ccdc175 T G 12: 72,186,667 (GRCm39) probably null Het
Crot A G 5: 9,038,295 (GRCm39) probably benign Het
Cyp2c67 A G 19: 39,628,405 (GRCm39) S180P probably damaging Het
Ddx55 A G 5: 124,692,816 (GRCm39) N81S possibly damaging Het
Dennd3 C T 15: 73,440,482 (GRCm39) T1171M probably benign Het
Dnah7a T C 1: 53,543,093 (GRCm39) D2359G probably benign Het
Dpp8 T A 9: 64,953,069 (GRCm39) N248K probably benign Het
Ganc T C 2: 120,265,769 (GRCm39) I439T probably benign Het
Gdpgp1 T C 7: 79,888,443 (GRCm39) I158T possibly damaging Het
Grm3 T C 5: 9,562,206 (GRCm39) D548G possibly damaging Het
H2-DMb1 T A 17: 34,376,514 (GRCm39) probably benign Het
Hecw2 A G 1: 53,966,217 (GRCm39) probably benign Het
Hspa4 C A 11: 53,160,627 (GRCm39) R483L probably damaging Het
Ik C A 18: 36,889,657 (GRCm39) S490R probably damaging Het
Ldlrad1 G A 4: 107,072,035 (GRCm39) V86M possibly damaging Het
Mfsd4b1 A C 10: 39,878,827 (GRCm39) F357V probably damaging Het
Ndufa9 A G 6: 126,821,813 (GRCm39) V54A possibly damaging Het
Nfe2l2 A G 2: 75,509,544 (GRCm39) I92T probably benign Het
Oas1a A G 5: 121,043,908 (GRCm39) S75P probably damaging Het
Oca2 T G 7: 56,185,716 (GRCm39) M814R probably benign Het
Phlpp2 A G 8: 110,662,249 (GRCm39) T879A probably benign Het
Potefam3e A G 8: 19,799,463 (GRCm39) I304V probably benign Het
Rpe65 A T 3: 159,321,214 (GRCm39) Y342F possibly damaging Het
Satb2 T C 1: 56,930,333 (GRCm39) K230R probably damaging Het
Slc4a4 A G 5: 89,270,342 (GRCm39) T297A probably benign Het
Slpi T C 2: 164,198,129 (GRCm39) T22A probably benign Het
Sphkap A T 1: 83,254,552 (GRCm39) S779T probably damaging Het
Synj1 A G 16: 90,784,280 (GRCm39) F286S probably damaging Het
Tektl1 A G 10: 78,582,966 (GRCm39) C473R possibly damaging Het
Tigd2 T A 6: 59,188,690 (GRCm39) I519K probably benign Het
Tyr G T 7: 87,141,922 (GRCm39) L136I possibly damaging Het
Vmn1r34 A T 6: 66,613,970 (GRCm39) M256K probably benign Het
Zmym2 T A 14: 57,194,517 (GRCm39) C1258* probably null Het
Other mutations in Hs3st2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01904:Hs3st2 APN 7 121,100,207 (GRCm39) missense probably damaging 1.00
R0469:Hs3st2 UTSW 7 121,099,792 (GRCm39) missense probably damaging 1.00
R0510:Hs3st2 UTSW 7 121,099,792 (GRCm39) missense probably damaging 1.00
R0849:Hs3st2 UTSW 7 121,100,255 (GRCm39) missense possibly damaging 0.89
R3001:Hs3st2 UTSW 7 121,099,910 (GRCm39) missense probably damaging 0.97
R3002:Hs3st2 UTSW 7 121,099,910 (GRCm39) missense probably damaging 0.97
R4056:Hs3st2 UTSW 7 121,099,925 (GRCm39) missense probably damaging 1.00
R4997:Hs3st2 UTSW 7 121,099,679 (GRCm39) missense possibly damaging 0.95
R5705:Hs3st2 UTSW 7 120,992,305 (GRCm39) missense probably damaging 1.00
R6016:Hs3st2 UTSW 7 121,099,922 (GRCm39) missense probably damaging 1.00
R6821:Hs3st2 UTSW 7 121,099,745 (GRCm39) missense possibly damaging 0.94
R7404:Hs3st2 UTSW 7 121,100,168 (GRCm39) missense possibly damaging 0.67
R8018:Hs3st2 UTSW 7 121,099,639 (GRCm39) critical splice acceptor site probably null
R8111:Hs3st2 UTSW 7 120,992,362 (GRCm39) missense probably damaging 1.00
R8118:Hs3st2 UTSW 7 120,996,651 (GRCm39) missense probably benign 0.07
R8949:Hs3st2 UTSW 7 121,100,017 (GRCm39) missense probably benign
R9447:Hs3st2 UTSW 7 120,992,289 (GRCm39) missense probably damaging 1.00
X0067:Hs3st2 UTSW 7 121,099,759 (GRCm39) missense probably damaging 0.97
Posted On 2016-08-02