Incidental Mutation 'R1105:Hs3st1'
ID 98432
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 039178-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.122) question?
Stock # R1105 (G1)
Quality Score 105
Status Not validated
Chromosome 5
Chromosomal Location 39771278-39802935 bp(-) (GRCm39)
Type of Mutation unclassified
DNA Base Change (assembly) GGTACAGGCTGCGGTTGAGAGCCTTGTA to GGTA at 39772041 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000118060 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000053116] [ENSMUST00000117944] [ENSMUST00000137142] [ENSMUST00000152057]
AlphaFold O35310
Predicted Effect probably benign
Transcript: ENSMUST00000053116
SMART Domains Protein: ENSMUSP00000051055
Gene: ENSMUSG00000051022

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

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

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: 99.2%
  • 3x: 98.5%
  • 10x: 96.8%
  • 20x: 94.4%
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: 14 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aif1 G A 17: 35,391,127 (GRCm39) P44L probably benign Het
Bcl6 G T 16: 23,784,905 (GRCm39) D698E probably benign Het
Catsperz A T 19: 6,902,303 (GRCm39) Y64N probably benign Het
Clstn2 T C 9: 97,465,552 (GRCm39) probably null Het
Col1a2 G A 6: 4,518,822 (GRCm39) probably benign Het
Duox1 A T 2: 122,168,183 (GRCm39) T1103S probably damaging Het
Gcfc2 T C 6: 81,916,434 (GRCm39) S292P probably damaging Het
Hsh2d G A 8: 72,954,304 (GRCm39) D229N probably benign Het
Klk1b16 C T 7: 43,788,937 (GRCm39) R57C probably damaging Het
Mki67 T C 7: 135,302,779 (GRCm39) S752G probably benign Het
Ndrg1 T A 15: 66,812,080 (GRCm39) N204Y probably damaging Het
Ripk1 T C 13: 34,212,150 (GRCm39) Y487H probably benign Het
Rpl18a T C 8: 71,348,658 (GRCm39) N77S probably damaging Het
Zik1 G A 7: 10,224,312 (GRCm39) R262C 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
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
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'- AGGCAGTAGAAGCCCTTGGTTTTG -3'
(R):5'- GGAGAAGACACCCGCCTATTTCAC -3'

Sequencing Primer
(F):5'- TTGTTAAAGTAGAAGTTCGAGGC -3'
(R):5'- TTCGCCCAAAGTGCCTGAG -3'
Posted On 2014-01-05