Incidental Mutation 'R8276:Hs3st1'
ID 637974
Institutional Source Beutler Lab
Gene Symbol Hs3st1
Ensembl Gene ENSMUSG00000051022
Gene Name heparan sulfate (glucosamine) 3-O-sulfotransferase 1
Synonyms D5Wsu110e, 3-OST
MMRRC Submission 067699-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.136) question?
Stock # R8276 (G1)
Quality Score 225.009
Status Validated
Chromosome 5
Chromosomal Location 39771278-39802935 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 39772146 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Asparagine at position 166 (Y166N)
Ref Sequence ENSEMBL: ENSMUSP00000051055 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000053116] [ENSMUST00000117944] [ENSMUST00000137142] [ENSMUST00000152057]
AlphaFold O35310
PDB Structure Crystal structure of heparan sulfate 3-O-sulfotransferase isoform 1 in the presence of PAP [X-RAY DIFFRACTION]
Crystal structure of 3-O-sulfotransferase (3-OST-1) with bound PAP and heptasaccharide substrate [X-RAY DIFFRACTION]
Predicted Effect probably damaging
Transcript: ENSMUST00000053116
AA Change: Y166N

PolyPhen 2 Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000051055
Gene: ENSMUSG00000051022
AA Change: Y166N

DomainStartEndE-ValueType
signal peptide 1 20 N/A INTRINSIC
Pfam:Sulfotransfer_1 58 302 5.7e-42 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000117944
AA Change: Y166N

PolyPhen 2 Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000113919
Gene: ENSMUSG00000051022
AA Change: Y166N

DomainStartEndE-ValueType
signal peptide 1 20 N/A INTRINSIC
Pfam:Sulfotransfer_1 58 302 5.7e-42 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000137142
AA Change: Y166N

PolyPhen 2 Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000114997
Gene: ENSMUSG00000051022
AA Change: Y166N

DomainStartEndE-ValueType
signal peptide 1 20 N/A INTRINSIC
Pfam:Sulfotransfer_1 58 177 3.2e-19 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000152057
SMART Domains Protein: ENSMUSP00000118060
Gene: ENSMUSG00000051022

DomainStartEndE-ValueType
signal peptide 1 20 N/A INTRINSIC
SCOP:d1fmja_ 25 74 1e-5 SMART
PDB:1VKJ|C 40 75 6e-12 PDB
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.5%
  • 20x: 98.3%
Validation Efficiency 98% (44/45)
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 possesses both heparan sulfate glucosaminyl 3-O-sulfotransferase activity, anticoagulant heparan sulfate conversion activity, and is a rate limiting enzyme for synthesis of anticoagulant heparan. This enzyme is an intraluminal Golgi resident protein. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous mutation of this gene results in embryonic growth retardation and death between postnatal days 2-3 when bred on a C57BL/6J background. Mice homozygous for this mutation on a 129 background are normal. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
3425401B19Rik T A 14: 32,385,885 (GRCm39) R27W probably damaging Het
Acbd5 A G 2: 22,959,563 (GRCm39) D39G probably benign Het
Amdhd2 C G 17: 24,382,574 (GRCm39) R22P probably damaging Het
Ankmy1 T C 1: 92,814,531 (GRCm39) I325M probably benign Het
Cyld A G 8: 89,461,556 (GRCm39) I664M probably benign Het
Dnajc10 T C 2: 80,179,614 (GRCm39) M716T probably benign Het
Dock10 T A 1: 80,505,998 (GRCm39) T1743S probably benign Het
Dop1a T C 9: 86,399,092 (GRCm39) S947P probably benign Het
Ep300 C G 15: 81,534,229 (GRCm39) N2095K possibly damaging Het
Evi2a T A 11: 79,418,316 (GRCm39) N98I probably damaging Het
Fan1 T A 7: 64,022,234 (GRCm39) N340Y probably damaging Het
Far2 G T 6: 148,075,399 (GRCm39) V420L probably benign Het
Gng5 A G 3: 146,206,258 (GRCm39) probably benign Het
Heatr5b G A 17: 79,098,968 (GRCm39) R1311* probably null Het
Hhipl2 A T 1: 183,217,328 (GRCm39) K478M possibly damaging Het
Jcad T A 18: 4,674,318 (GRCm39) S693R probably damaging Het
Kcnmb3 A G 3: 32,536,572 (GRCm39) L52P probably damaging Het
Mib1 T C 18: 10,751,880 (GRCm39) I254T possibly damaging Het
Myo18b T C 5: 112,943,273 (GRCm39) K1644R possibly damaging Het
Nherf2 G T 17: 24,861,234 (GRCm39) Y175* probably null Het
Nlrp2 G A 7: 5,320,494 (GRCm39) T881M probably benign Het
Or11h23 T A 14: 50,948,287 (GRCm39) S167T probably benign Het
Or52h9 A T 7: 104,202,522 (GRCm39) Y132F probably damaging Het
Pkd1l3 A C 8: 110,397,353 (GRCm39) *2152C probably null Het
Polr2a G A 11: 69,638,882 (GRCm39) R51C probably damaging Het
Ptpru C T 4: 131,506,484 (GRCm39) G1026D probably damaging Het
Rbm46 A G 3: 82,771,895 (GRCm39) V240A probably damaging Het
Rrm1 G A 7: 102,110,059 (GRCm39) probably null Het
Ryr3 T C 2: 112,470,962 (GRCm39) D4637G probably damaging Het
Selenos G A 7: 65,729,552 (GRCm39) probably benign Het
Serpina1e G T 12: 103,913,428 (GRCm39) T364K probably damaging Het
Shroom3 A T 5: 93,088,339 (GRCm39) Q363L probably damaging Het
Slc9b1 A C 3: 135,077,658 (GRCm39) E139D possibly damaging Het
Tjp1 A T 7: 64,993,544 (GRCm39) probably benign Het
Tmcc3 A T 10: 94,418,170 (GRCm39) T344S probably damaging Het
Tnrc6b T A 15: 80,764,918 (GRCm39) S807T probably benign Het
Trav7-6 A T 14: 53,954,695 (GRCm39) H95L probably benign Het
Trmu T A 15: 85,766,932 (GRCm39) V47D possibly damaging Het
Uba6 C A 5: 86,290,509 (GRCm39) probably benign Het
Unc79 A G 12: 102,968,122 (GRCm39) D116G possibly damaging Het
Vmn2r93 G A 17: 18,525,649 (GRCm39) probably null Het
Zfp541 A T 7: 15,813,009 (GRCm39) H554L possibly damaging Het
Zfp618 A G 4: 63,051,193 (GRCm39) H658R probably damaging Het
Zmym1 A T 4: 126,948,051 (GRCm39) Y107N probably damaging Het
Other mutations in Hs3st1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02823:Hs3st1 APN 5 39,772,100 (GRCm39) missense probably damaging 1.00
IGL03162:Hs3st1 APN 5 39,771,792 (GRCm39) nonsense probably null
R1105:Hs3st1 UTSW 5 39,772,041 (GRCm39) unclassified probably benign
R1539:Hs3st1 UTSW 5 39,771,791 (GRCm39) missense probably benign
R1577:Hs3st1 UTSW 5 39,772,393 (GRCm39) missense probably benign 0.01
R3857:Hs3st1 UTSW 5 39,772,256 (GRCm39) missense probably damaging 1.00
R3858:Hs3st1 UTSW 5 39,772,256 (GRCm39) missense probably damaging 1.00
R4730:Hs3st1 UTSW 5 39,772,148 (GRCm39) nonsense probably null
R6091:Hs3st1 UTSW 5 39,772,007 (GRCm39) missense probably damaging 1.00
R6194:Hs3st1 UTSW 5 39,771,748 (GRCm39) missense probably damaging 0.96
R6213:Hs3st1 UTSW 5 39,771,864 (GRCm39) missense probably damaging 1.00
R6292:Hs3st1 UTSW 5 39,772,133 (GRCm39) missense possibly damaging 0.69
R7453:Hs3st1 UTSW 5 39,772,310 (GRCm39) missense probably damaging 1.00
R9196:Hs3st1 UTSW 5 39,771,962 (GRCm39) missense probably damaging 0.96
R9324:Hs3st1 UTSW 5 39,772,145 (GRCm39) missense probably damaging 1.00
R9384:Hs3st1 UTSW 5 39,771,962 (GRCm39) missense possibly damaging 0.86
Predicted Primers PCR Primer
(F):5'- TGGATCTCAGGGAAAGGGTCTC -3'
(R):5'- AGGAGCATTACAGCCAAGGC -3'

Sequencing Primer
(F):5'- AAGGGTCTCTGATGAGGCG -3'
(R):5'- ATTACAGCCAAGGCCTGGG -3'
Posted On 2020-07-28