Incidental Mutation 'R1577:Hs3st1'
ID 171214
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 039615-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.136) question?
Stock # R1577 (G1)
Quality Score 225
Status Not validated
Chromosome 5
Chromosomal Location 39771278-39802935 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 39772393 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 83 (D83E)
Ref Sequence ENSEMBL: ENSMUSP00000114997 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000053116] [ENSMUST00000117944] [ENSMUST00000137142] [ENSMUST00000152057]
AlphaFold O35310
Predicted Effect probably benign
Transcript: ENSMUST00000053116
AA Change: D83E

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000051055
Gene: ENSMUSG00000051022
AA Change: D83E

DomainStartEndE-ValueType
signal peptide 1 20 N/A INTRINSIC
Pfam:Sulfotransfer_1 58 302 5.7e-42 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000117944
AA Change: D83E

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000113919
Gene: ENSMUSG00000051022
AA Change: D83E

DomainStartEndE-ValueType
signal peptide 1 20 N/A INTRINSIC
Pfam:Sulfotransfer_1 58 302 5.7e-42 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000137142
AA Change: D83E

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000114997
Gene: ENSMUSG00000051022
AA Change: D83E

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000200697
Coding Region Coverage
  • 1x: 98.9%
  • 3x: 97.8%
  • 10x: 94.6%
  • 20x: 87.3%
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 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: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrb3 T C 1: 25,133,264 (GRCm39) N404S possibly damaging Het
Cep85 T C 4: 133,879,599 (GRCm39) E383G probably damaging Het
Chst4 A T 8: 110,756,476 (GRCm39) H379Q probably benign Het
Clca3b A T 3: 144,529,280 (GRCm39) I798N probably damaging Het
Cldnd1 T G 16: 58,553,016 (GRCm39) L159R possibly damaging Het
Cntnap3 T C 13: 64,906,104 (GRCm39) E834G probably damaging Het
Col2a1 C T 15: 97,877,083 (GRCm39) R1065Q probably damaging Het
Dchs1 T C 7: 105,415,162 (GRCm39) D674G probably damaging Het
Dntt A G 19: 41,044,224 (GRCm39) Y463C probably damaging Het
Egfr A G 11: 16,819,241 (GRCm39) E257G probably benign Het
Eif4b C T 15: 101,998,336 (GRCm39) R339* probably null Het
Fat1 C T 8: 45,476,420 (GRCm39) T1822M probably benign Het
Fgd3 T C 13: 49,435,413 (GRCm39) N282D probably damaging Het
Fmo4 T C 1: 162,631,269 (GRCm39) M233V possibly damaging Het
Gabbr2 T A 4: 46,684,319 (GRCm39) M652L probably benign Het
Gal3st2c G A 1: 93,934,650 (GRCm39) V13M probably damaging Het
Gapvd1 C T 2: 34,599,240 (GRCm39) G686D probably damaging Het
Gdap1l1 T G 2: 163,280,524 (GRCm39) L20R probably damaging Het
Gm5800 A T 14: 51,952,016 (GRCm39) M82K probably benign Het
Grm6 T A 11: 50,753,972 (GRCm39) C759S probably damaging Het
Il12rb1 A G 8: 71,263,250 (GRCm39) D39G probably damaging Het
Ldhb C A 6: 142,438,324 (GRCm39) K244N possibly damaging Het
Lypd6 C T 2: 50,080,710 (GRCm39) R133* probably null Het
Med13l G A 5: 118,859,457 (GRCm39) G215S probably damaging Het
Ncoa1 T C 12: 4,345,196 (GRCm39) D606G probably damaging Het
Noc2l C T 4: 156,325,079 (GRCm39) T151M probably damaging Het
Or10q3 T C 19: 11,847,741 (GRCm39) T280A probably damaging Het
Or2ag2 T C 7: 106,485,217 (GRCm39) K269R probably benign Het
Or2at4 T C 7: 99,384,563 (GRCm39) L71P probably damaging Het
Or2t26 T A 11: 49,040,016 (GRCm39) C311S probably benign Het
Or5aq1b T C 2: 86,901,741 (GRCm39) T246A probably benign Het
Ppm1l G A 3: 69,460,403 (GRCm39) G327R probably damaging Het
Rapgef5 C T 12: 117,558,911 (GRCm39) A282V probably benign Het
Rnf139 T C 15: 58,771,367 (GRCm39) V464A probably damaging Het
Rprd2 C T 3: 95,672,047 (GRCm39) E1119K probably damaging Het
Sipa1l2 G A 8: 126,219,001 (GRCm39) T112I probably benign Het
Skint6 T C 4: 113,005,720 (GRCm39) T363A possibly damaging Het
Slc22a16 G T 10: 40,479,811 (GRCm39) E607* probably null Het
Slc24a2 T C 4: 86,909,648 (GRCm39) Y690C probably damaging Het
Slc25a23 T C 17: 57,354,306 (GRCm39) S115G probably benign Het
Slc4a3 T C 1: 75,527,535 (GRCm39) L168P probably damaging Het
Spats2 T A 15: 99,076,333 (GRCm39) I137N possibly damaging Het
Stard4 A T 18: 33,338,151 (GRCm39) V133D probably damaging Het
Syn3 A G 10: 86,284,728 (GRCm39) probably null Het
Tfpi A G 2: 84,263,447 (GRCm39) I305T probably damaging Het
Tmtc1 T A 6: 148,314,318 (GRCm39) probably null Het
Tpcn1 A C 5: 120,682,485 (GRCm39) W508G probably damaging Het
Ubr5 A T 15: 38,030,974 (GRCm39) N406K possibly damaging Het
Xrcc1 T A 7: 24,265,052 (GRCm39) L118* probably null Het
Zbtb5 T C 4: 44,995,129 (GRCm39) Y85C probably damaging Het
Zfand4 C A 6: 116,306,373 (GRCm39) Y735* probably null Het
Zfp180 G T 7: 23,805,333 (GRCm39) C584F 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
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
R8276:Hs3st1 UTSW 5 39,772,146 (GRCm39) missense probably damaging 0.98
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'- CTGTGGATTCTCTCAGGCACTTTGG -3'
(R):5'- TGTACAGCATGACCTTGCTGCTC -3'

Sequencing Primer
(F):5'- CTTTGGGCGAAGTGAAATAGGC -3'
(R):5'- GCCCCAGCTTGTGCATTC -3'
Posted On 2014-04-13