Incidental Mutation 'IGL02126:Hs3st3a1'
ID 280881
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Hs3st3a1
Ensembl Gene ENSMUSG00000047759
Gene Name heparan sulfate (glucosamine) 3-O-sulfotransferase 3A1
Synonyms 3Ost3a
Accession Numbers
Essential gene? Probably non essential (E-score: 0.098) question?
Stock # IGL02126
Quality Score
Status
Chromosome 11
Chromosomal Location 64326158-64413667 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 64327331 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Methionine at position 147 (V147M)
Ref Sequence ENSEMBL: ENSMUSP00000055930 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000058652] [ENSMUST00000177999]
AlphaFold Q8BKN6
Predicted Effect probably damaging
Transcript: ENSMUST00000058652
AA Change: V147M

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000055930
Gene: ENSMUSG00000047759
AA Change: V147M

DomainStartEndE-ValueType
Pfam:Sulfotransfer_3 28 320 2.5e-11 PFAM
Pfam:Sulfotransfer_1 139 385 7.6e-48 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000177999
SMART Domains Protein: ENSMUSP00000137599
Gene: ENSMUSG00000095224

DomainStartEndE-ValueType
low complexity region 103 117 N/A INTRINSIC
low complexity region 156 182 N/A INTRINSIC
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. The sulfotransferase domain of this enzyme is highly similar to the same domain of heparan sulfate D-glucosaminyl 3-O-sulfotransferase 3B1, and these two enzymes sulfate an identical disaccharide. This gene is widely expressed, with the most abundant expression in liver and placenta. [provided by RefSeq, Dec 2014]
Allele List at MGI
Other mutations in this stock
Total: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aldh16a1 G A 7: 44,795,459 (GRCm39) P400L probably damaging Het
Angptl3 T C 4: 98,919,738 (GRCm39) probably null Het
Atoh1 T C 6: 64,706,334 (GRCm39) W10R probably damaging Het
Brd8 C T 18: 34,735,780 (GRCm39) S899N probably damaging Het
Ccm2 A G 11: 6,544,154 (GRCm39) T317A probably damaging Het
Ccnt1 A T 15: 98,465,484 (GRCm39) W12R probably damaging Het
Celf1 T A 2: 90,831,408 (GRCm39) L79H probably damaging Het
Cmip T C 8: 118,175,770 (GRCm39) V423A probably damaging Het
Ddr1 T A 17: 35,999,481 (GRCm39) I431F probably damaging Het
Dnah6 A G 6: 73,080,149 (GRCm39) L2343P probably benign Het
Duox1 A G 2: 122,176,817 (GRCm39) D1446G probably benign Het
Erich3 A G 3: 154,419,599 (GRCm39) H231R possibly damaging Het
Fam221b T A 4: 43,666,450 (GRCm39) I54F probably benign Het
Fcgbpl1 G A 7: 27,839,281 (GRCm39) V365M probably damaging Het
Galntl5 T C 5: 25,394,839 (GRCm39) F69L possibly damaging Het
Gba2 T G 4: 43,567,918 (GRCm39) probably null Het
Gbf1 C A 19: 46,240,556 (GRCm39) P46Q probably damaging Het
Gimap6 T G 6: 48,679,635 (GRCm39) S134R probably damaging Het
Gm5424 A C 10: 61,907,377 (GRCm39) noncoding transcript Het
Hexb T C 13: 97,314,532 (GRCm39) K404E possibly damaging Het
Hsd17b4 T C 18: 50,315,063 (GRCm39) V610A probably benign Het
Loxl3 T A 6: 83,025,628 (GRCm39) W329R probably damaging Het
Lrrc52 A G 1: 167,273,575 (GRCm39) F247S probably damaging Het
Naa38 C T 11: 69,287,045 (GRCm39) R42W probably damaging Het
Nadsyn1 G A 7: 143,357,753 (GRCm39) Q485* probably null Het
Nid1 A G 13: 13,663,743 (GRCm39) probably null Het
Ofcc1 T C 13: 40,362,251 (GRCm39) T224A probably benign Het
Or5m11b T G 2: 85,806,517 (GRCm39) I310S probably benign Het
Palld A G 8: 62,330,476 (GRCm39) Y134H possibly damaging Het
Pfkfb4 C T 9: 108,854,178 (GRCm39) R351W probably damaging Het
Pfn3 T C 13: 55,562,699 (GRCm39) D94G possibly damaging Het
Pkhd1 G A 1: 20,187,419 (GRCm39) R3630C probably damaging Het
Por T A 5: 135,744,829 (GRCm39) F31I probably benign Het
Ppp1r12c T C 7: 4,492,858 (GRCm39) E127G probably benign Het
Ppp1r9a T A 6: 5,156,229 (GRCm39) S1162T probably damaging Het
Psen2 C A 1: 180,057,488 (GRCm39) A297S probably benign Het
Rpusd2 G A 2: 118,869,119 (GRCm39) R514Q probably damaging Het
Rxrg A G 1: 167,462,029 (GRCm39) M235V probably damaging Het
Sash1 T C 10: 8,615,229 (GRCm39) M644V probably damaging Het
Sf3b3 T C 8: 111,550,075 (GRCm39) T648A probably benign Het
Slco1a7 T A 6: 141,684,739 (GRCm39) T239S probably benign Het
Ssu72 T C 4: 155,816,483 (GRCm39) I155T probably benign Het
Tas2r102 A G 6: 132,739,607 (GRCm39) R172G probably damaging Het
Tmem214 G A 5: 31,030,090 (GRCm39) A296T probably benign Het
Trav12-2 C A 14: 53,853,859 (GRCm39) N2K probably damaging Het
Tyrp1 C T 4: 80,755,845 (GRCm39) Q205* probably null Het
Ubr4 T A 4: 139,180,052 (GRCm39) probably null Het
Ush2a A G 1: 187,995,588 (GRCm39) S120G probably benign Het
Vmn2r100 T C 17: 19,741,504 (GRCm39) probably benign Het
Zer1 G T 2: 29,994,928 (GRCm39) T489K probably benign Het
Zfp955b G T 17: 33,521,238 (GRCm39) G236* probably null Het
Other mutations in Hs3st3a1
AlleleSourceChrCoordTypePredicted EffectPPH Score
R1621:Hs3st3a1 UTSW 11 64,327,049 (GRCm39) missense probably benign 0.00
R1900:Hs3st3a1 UTSW 11 64,411,268 (GRCm39) missense probably damaging 0.99
R3429:Hs3st3a1 UTSW 11 64,327,148 (GRCm39) missense probably benign
R6085:Hs3st3a1 UTSW 11 64,327,004 (GRCm39) missense possibly damaging 0.88
R6369:Hs3st3a1 UTSW 11 64,411,427 (GRCm39) missense probably benign 0.09
R7335:Hs3st3a1 UTSW 11 64,411,163 (GRCm39) missense probably benign 0.40
R8505:Hs3st3a1 UTSW 11 64,411,614 (GRCm39) missense possibly damaging 0.48
R8778:Hs3st3a1 UTSW 11 64,327,251 (GRCm39) missense probably benign 0.29
Posted On 2015-04-16