Incidental Mutation 'R4730:Hs3st1'
ID 358746
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 041990-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.122) question?
Stock # R4730 (G1)
Quality Score 225
Status Validated
Chromosome 5
Chromosomal Location 39771278-39802935 bp(-) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) A to T at 39772148 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Stop codon at position 165 (L165*)
Ref Sequence ENSEMBL: ENSMUSP00000114997 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000053116] [ENSMUST00000117944] [ENSMUST00000137142] [ENSMUST00000152057]
AlphaFold O35310
Predicted Effect probably null
Transcript: ENSMUST00000053116
AA Change: L165*
SMART Domains Protein: ENSMUSP00000051055
Gene: ENSMUSG00000051022
AA Change: L165*

DomainStartEndE-ValueType
signal peptide 1 20 N/A INTRINSIC
Pfam:Sulfotransfer_1 58 302 5.7e-42 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000117944
AA Change: L165*
SMART Domains Protein: ENSMUSP00000113919
Gene: ENSMUSG00000051022
AA Change: L165*

DomainStartEndE-ValueType
signal peptide 1 20 N/A INTRINSIC
Pfam:Sulfotransfer_1 58 302 5.7e-42 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000137142
AA Change: L165*
SMART Domains Protein: ENSMUSP00000114997
Gene: ENSMUSG00000051022
AA Change: L165*

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
Meta Mutation Damage Score 0.9755 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.1%
  • 20x: 94.8%
Validation Efficiency 99% (70/71)
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: 62 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aff1 A G 5: 103,990,939 (GRCm39) Q963R possibly damaging Het
Arhgef28 C T 13: 98,114,650 (GRCm39) E645K probably benign Het
Bbs10 A G 10: 111,136,995 (GRCm39) K703E probably benign Het
Col4a2 A G 8: 11,487,590 (GRCm39) N964S probably benign Het
Dab1 C T 4: 104,588,948 (GRCm39) A524V probably benign Het
Duox1 T G 2: 122,164,312 (GRCm39) L924R probably damaging Het
Edem2 T C 2: 155,547,618 (GRCm39) E398G possibly damaging Het
Engase A G 11: 118,373,748 (GRCm39) N297D probably damaging Het
Esp4 A C 17: 40,913,445 (GRCm39) Y104S unknown Het
Esp4 C A 17: 40,913,446 (GRCm39) Y104* probably null Het
Fat1 A T 8: 45,486,514 (GRCm39) N3356I probably damaging Het
Gm3867 T A 9: 36,168,550 (GRCm39) noncoding transcript Het
Gm6818 C T 7: 38,101,918 (GRCm39) noncoding transcript Het
Grip2 T C 6: 91,762,693 (GRCm39) *175W probably null Het
Gucy1b2 A G 14: 62,645,208 (GRCm39) V617A probably damaging Het
Gzmc C T 14: 56,469,089 (GRCm39) C210Y probably damaging Het
Hmg20a T A 9: 56,374,703 (GRCm39) S20T possibly damaging Het
Ighv1-26 A G 12: 114,752,409 (GRCm39) I6T probably benign Het
Kcnk13 A G 12: 100,027,974 (GRCm39) K350E probably damaging Het
Lin9 T A 1: 180,493,416 (GRCm39) L198* probably null Het
Lrfn5 C T 12: 61,887,505 (GRCm39) A431V probably benign Het
Lta C T 17: 35,423,065 (GRCm39) R86Q probably benign Het
Map3k4 T A 17: 12,467,861 (GRCm39) I1058L probably damaging Het
Mtif2 T A 11: 29,490,834 (GRCm39) S513T probably benign Het
Muc4 C T 16: 32,570,032 (GRCm39) T364I possibly damaging Het
Nav1 C A 1: 135,535,049 (GRCm39) probably benign Het
Nfrkb T C 9: 31,321,547 (GRCm39) V748A probably benign Het
Obox6 A T 7: 15,568,738 (GRCm39) M46K possibly damaging Het
Or5g25 T C 2: 85,478,336 (GRCm39) T110A probably benign Het
Or5k1b T C 16: 58,581,105 (GRCm39) I145V probably benign Het
Or5t17 C T 2: 86,832,510 (GRCm39) R66W possibly damaging Het
Or6c33 G A 10: 129,853,416 (GRCm39) R62Q probably damaging Het
Or9g19 G T 2: 85,600,405 (GRCm39) E87* probably null Het
P4htm A G 9: 108,456,971 (GRCm39) V412A possibly damaging Het
Phb2 T C 6: 124,690,086 (GRCm39) S92P probably damaging Het
Phtf1 G T 3: 103,894,751 (GRCm39) R147L probably damaging Het
Pigk C T 3: 152,448,203 (GRCm39) Q189* probably null Het
Plxnc1 G A 10: 94,703,330 (GRCm39) probably benign Het
Prrx1 A G 1: 163,140,182 (GRCm39) V8A probably benign Het
Ptprg G A 14: 12,213,713 (GRCm38) G252D probably damaging Het
Rnf4 G T 5: 34,508,147 (GRCm39) V134F possibly damaging Het
Scarf2 A G 16: 17,620,877 (GRCm39) T182A probably damaging Het
Setd1a A G 7: 127,396,502 (GRCm39) probably benign Het
Sgpp1 A G 12: 75,781,713 (GRCm39) F209L probably benign Het
Sh3d19 T A 3: 86,024,171 (GRCm39) S567T possibly damaging Het
Slc4a2 C T 5: 24,639,878 (GRCm39) R520W probably damaging Het
Slf1 T C 13: 77,194,751 (GRCm39) Q858R probably damaging Het
Slitrk3 G T 3: 72,956,852 (GRCm39) A640E probably benign Het
Smarca2 A G 19: 26,608,073 (GRCm39) Y44C probably damaging Het
Spon1 A G 7: 113,632,306 (GRCm39) E543G possibly damaging Het
Strn4 A G 7: 16,562,719 (GRCm39) Q286R possibly damaging Het
Suz12 T C 11: 79,892,988 (GRCm39) probably benign Het
Syna T A 5: 134,587,440 (GRCm39) E503V probably damaging Het
Syt14 C T 1: 192,613,094 (GRCm39) D569N probably damaging Het
Sytl2 A G 7: 90,030,457 (GRCm39) probably benign Het
Tmprss11g G T 5: 86,637,091 (GRCm39) S335* probably null Het
Tmprss11g A T 5: 86,637,092 (GRCm39) S335T probably damaging Het
Trim66 A G 7: 109,082,276 (GRCm39) S226P probably damaging Het
Tubgcp3 T C 8: 12,707,654 (GRCm39) T112A probably benign Het
Ulk4 T C 9: 121,092,791 (GRCm39) S149G probably benign Het
Usp53 T C 3: 122,756,582 (GRCm39) D108G probably null Het
Vmn1r91 A T 7: 19,835,695 (GRCm39) T205S possibly 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
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'- GAAAGGGTCTCTGATGAGGC -3'
(R):5'- TCTTTGACTGGGAGGAGCATTAC -3'

Sequencing Primer
(F):5'- CGGTCGCCATCCACAATGTG -3'
(R):5'- GAGCATTACAGCCAAGGCCTG -3'
Posted On 2015-11-11