Incidental Mutation 'R1621:Hs3st3a1'
ID 174671
Institutional Source Beutler Lab
Gene Symbol Hs3st3a1
Ensembl Gene ENSMUSG00000047759
Gene Name heparan sulfate (glucosamine) 3-O-sulfotransferase 3A1
Synonyms 3Ost3a
MMRRC Submission 039658-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.099) question?
Stock # R1621 (G1)
Quality Score 106
Status Not validated
Chromosome 11
Chromosomal Location 64326158-64413667 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 64327049 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Phenylalanine at position 53 (V53F)
Ref Sequence ENSEMBL: ENSMUSP00000055930 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000058652] [ENSMUST00000177999]
AlphaFold Q8BKN6
Predicted Effect probably benign
Transcript: ENSMUST00000058652
AA Change: V53F

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
SMART Domains Protein: ENSMUSP00000055930
Gene: ENSMUSG00000047759
AA Change: V53F

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
  • 1x: 98.9%
  • 3x: 97.8%
  • 10x: 94.0%
  • 20x: 84.5%
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: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actl6b A G 5: 137,564,041 (GRCm39) N253S probably benign Het
Adamts3 G A 5: 89,869,560 (GRCm39) H272Y probably damaging Het
Arpc5l T C 2: 38,903,913 (GRCm39) probably null Het
Birc6 G A 17: 74,977,245 (GRCm39) V4333I probably benign Het
Cd38 A G 5: 44,058,866 (GRCm39) D160G probably benign Het
Cdc7 A G 5: 107,112,920 (GRCm39) S13G probably benign Het
Chrm5 G T 2: 112,310,182 (GRCm39) D311E probably benign Het
Ctns A G 11: 73,079,298 (GRCm39) V140A possibly damaging Het
Ets2 A G 16: 95,510,913 (GRCm39) D57G probably damaging Het
Fbxo36 T A 1: 84,817,595 (GRCm39) M1K probably null Het
Fhod3 T A 18: 25,155,924 (GRCm39) I514K probably benign Het
G3bp2 A T 5: 92,204,137 (GRCm39) F350I probably damaging Het
Ippk T C 13: 49,615,044 (GRCm39) S427P probably benign Het
Irgm2 T C 11: 58,111,364 (GRCm39) F364L probably benign Het
Lipn A G 19: 34,046,113 (GRCm39) K29E probably benign Het
Map3k11 A G 19: 5,740,834 (GRCm39) E187G probably damaging Het
Nrxn3 A G 12: 88,762,480 (GRCm39) M176V probably benign Het
Or2z9 A G 8: 72,853,973 (GRCm39) Y123C probably damaging Het
Palm3 G A 8: 84,756,651 (GRCm39) S721N possibly damaging Het
Plxnb1 A G 9: 108,935,873 (GRCm39) I1088V probably benign Het
Pmfbp1 A G 8: 110,226,170 (GRCm39) H69R probably benign Het
Pou2af1 C T 9: 51,144,160 (GRCm39) H54Y probably damaging Het
Prl6a1 C T 13: 27,501,993 (GRCm39) T120I probably benign Het
Psen2 A T 1: 180,057,030 (GRCm39) F331L probably benign Het
Pygl T C 12: 70,237,866 (GRCm39) D724G probably damaging Het
Slc25a48 T A 13: 56,618,283 (GRCm39) *307R probably null Het
Slc39a6 T C 18: 24,733,946 (GRCm39) K248E probably benign Het
Slco4a1 A T 2: 180,112,925 (GRCm39) T386S probably benign Het
Snx7 T C 3: 117,630,805 (GRCm39) I185V possibly damaging Het
Tmem94 A G 11: 115,676,671 (GRCm39) S59G probably benign Het
Top3a A T 11: 60,641,433 (GRCm39) I392N probably damaging Het
Utp20 A G 10: 88,598,733 (GRCm39) I81T probably benign Het
Utrn A G 10: 12,589,027 (GRCm39) L893S probably benign Het
Other mutations in Hs3st3a1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02126:Hs3st3a1 APN 11 64,327,331 (GRCm39) missense probably damaging 1.00
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
Predicted Primers PCR Primer
(F):5'- ATGGTTTCTTAAGCACGGCCCC -3'
(R):5'- CCTTCTTCACGCCGATGATGATGG -3'

Sequencing Primer
(F):5'- AAGGGCTCGCAGTGCTTG -3'
(R):5'- TGCCCTCGTCCAGAAGTAAG -3'
Posted On 2014-04-24