Incidental Mutation 'R8350:Hs3st3b1'
ID 645480
Institutional Source Beutler Lab
Gene Symbol Hs3st3b1
Ensembl Gene ENSMUSG00000070407
Gene Name heparan sulfate (glucosamine) 3-O-sulfotransferase 3B1
Synonyms 3Ost3b, HS3ST3B1, 3-OST-3B, 3OST3B1, m3-OST-3B
MMRRC Submission 067868-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R8350 (G1)
Quality Score 225.009
Status Not validated
Chromosome 11
Chromosomal Location 63776618-63813116 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to C at 63780390 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Proline to Alanine at position 246 (P246A)
Ref Sequence ENSEMBL: ENSMUSP00000091647 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000094103]
AlphaFold Q9QZS6
Predicted Effect probably benign
Transcript: ENSMUST00000094103
AA Change: P246A

PolyPhen 2 Score 0.138 (Sensitivity: 0.92; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000091647
Gene: ENSMUSG00000070407
AA Change: P246A

DomainStartEndE-ValueType
Pfam:Sulfotransfer_3 6 318 1.7e-11 PFAM
Pfam:Sulfotransfer_1 137 383 6.3e-48 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a type II integral membrane protein that belongs to the 3-O-sulfotransferases family. These proteins catalyze the addition of sulfate groups at the 3-OH position of glucosamine in heparan sulfate. The substrate specificity of individual members of the family is based on prior modification of the heparan sulfate chain, thus allowing different members of the family to generate binding sites for different proteins on the same heparan sulfate chain. Following treatment with a histone deacetylase inhibitor, expression of this gene is activated in a pancreatic cell line. The increased expression results in promotion of the epithelial-mesenchymal transition. In addition, the modification catalyzed by this protein allows herpes simplex virus membrane fusion and penetration. A very closely related homolog with an almost identical sulfotransferase domain maps less than 1 Mb away. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2014]
Allele List at MGI
Other mutations in this stock
Total: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700123K08Rik G A 5: 138,561,188 (GRCm39) T158M probably benign Het
Akirin2 T A 4: 34,551,082 (GRCm39) F13Y probably damaging Het
Arhgef2 G A 3: 88,553,527 (GRCm39) R886H probably damaging Het
Armc12 T A 17: 28,751,031 (GRCm39) D82E probably damaging Het
Atg2a T C 19: 6,296,841 (GRCm39) S382P probably benign Het
Bola1 G A 3: 96,104,573 (GRCm39) A7V probably benign Het
Cep170 A G 1: 176,564,445 (GRCm39) L271S Het
Cers3 T C 7: 66,414,090 (GRCm39) F92S possibly damaging Het
Chmp4c A T 3: 10,450,746 (GRCm39) M109L possibly damaging Het
Cnmd T A 14: 79,882,821 (GRCm39) K202* probably null Het
Cnp T C 11: 100,467,267 (GRCm39) I70T probably damaging Het
Col27a1 C A 4: 63,248,134 (GRCm39) T1721K unknown Het
Crtac1 G A 19: 42,297,625 (GRCm39) R242W probably damaging Het
Cry2 T C 2: 92,244,286 (GRCm39) R296G probably benign Het
Cyp2t4 A G 7: 26,856,806 (GRCm39) D282G possibly damaging Het
Dip2a G T 10: 76,100,690 (GRCm39) T1495N probably damaging Het
Dmbt1 T C 7: 130,687,147 (GRCm39) probably null Het
Dmp1 A T 5: 104,360,765 (GRCm39) K480N probably damaging Het
Dnah17 A G 11: 117,977,873 (GRCm39) S1820P probably damaging Het
Dnah6 A G 6: 73,172,798 (GRCm39) V220A probably benign Het
Eif4a3l1 C T 6: 136,306,241 (GRCm39) T234I possibly damaging Het
Epha3 T C 16: 63,472,853 (GRCm39) D344G possibly damaging Het
Esyt2 C A 12: 116,327,102 (GRCm39) Q557K probably damaging Het
Fam72a A T 1: 131,461,663 (GRCm39) D116V probably damaging Het
Fam81a T C 9: 70,032,300 (GRCm39) N64S probably damaging Het
Fat3 T A 9: 15,826,435 (GRCm39) T358S Het
Frat2 A T 19: 41,836,223 (GRCm39) I43N probably damaging Het
Fryl A T 5: 73,226,073 (GRCm39) D1863E probably benign Het
Gm43302 A T 5: 105,422,573 (GRCm39) probably null Het
Grid2ip A G 5: 143,363,273 (GRCm39) Y422C probably damaging Het
Hap1 T G 11: 100,240,107 (GRCm39) D563A probably damaging Het
Hbb-bs T C 7: 103,475,951 (GRCm39) D122G probably benign Het
Hsd17b4 T G 18: 50,297,734 (GRCm39) L341R probably benign Het
Kbtbd11 G A 8: 15,078,603 (GRCm39) V401M probably damaging Het
Lss T A 10: 76,371,429 (GRCm39) L120Q probably damaging Het
Mdc1 T G 17: 36,159,191 (GRCm39) S524A probably benign Het
Myoz3 T C 18: 60,712,074 (GRCm39) Y168C probably damaging Het
Nceh1 C A 3: 27,293,813 (GRCm39) D190E probably damaging Het
Neb T C 2: 52,096,194 (GRCm39) R5039G probably benign Het
Nup50 T A 15: 84,819,476 (GRCm39) V250E probably benign Het
Pcnx3 T A 19: 5,723,254 (GRCm39) N1314Y probably damaging Het
Pdzk1 A G 3: 96,759,024 (GRCm39) N143S probably benign Het
Rnf223 T G 4: 156,217,120 (GRCm39) L165R probably damaging Het
Sbf1 A T 15: 89,183,712 (GRCm39) F1267Y probably damaging Het
Scrn3 T G 2: 73,160,113 (GRCm39) I252R possibly damaging Het
Sdr39u1 T C 14: 56,135,363 (GRCm39) I193M probably damaging Het
Sh2d7 A G 9: 54,448,191 (GRCm39) R71G probably benign Het
Slc12a9 C A 5: 137,313,737 (GRCm39) V741L probably benign Het
Syk T C 13: 52,774,935 (GRCm39) L225P probably damaging Het
Tbx1 A T 16: 18,400,795 (GRCm39) V463E unknown Het
Tmem67 C T 4: 12,087,891 (GRCm39) R19H probably benign Het
Ttn T A 2: 76,609,108 (GRCm39) I17666F possibly damaging Het
Vcpip1 A G 1: 9,794,831 (GRCm39) V1180A probably benign Het
Wdr27 T C 17: 15,152,787 (GRCm39) T107A probably benign Het
Zfp106 T C 2: 120,366,099 (GRCm39) R58G Het
Other mutations in Hs3st3b1
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0723:Hs3st3b1 UTSW 11 63,812,401 (GRCm39) missense probably benign
R1940:Hs3st3b1 UTSW 11 63,780,569 (GRCm39) missense probably benign 0.01
R2386:Hs3st3b1 UTSW 11 63,780,039 (GRCm39) nonsense probably null
R4784:Hs3st3b1 UTSW 11 63,780,086 (GRCm39) missense probably benign 0.21
R5771:Hs3st3b1 UTSW 11 63,780,098 (GRCm39) missense probably benign 0.00
R6102:Hs3st3b1 UTSW 11 63,812,681 (GRCm39) nonsense probably null
R6153:Hs3st3b1 UTSW 11 63,780,324 (GRCm39) missense probably damaging 0.98
R6191:Hs3st3b1 UTSW 11 63,780,029 (GRCm39) missense probably benign 0.00
R6525:Hs3st3b1 UTSW 11 63,812,424 (GRCm39) missense probably benign
R7282:Hs3st3b1 UTSW 11 63,812,397 (GRCm39) missense probably benign
R7960:Hs3st3b1 UTSW 11 63,812,694 (GRCm39) missense possibly damaging 0.92
R8450:Hs3st3b1 UTSW 11 63,780,390 (GRCm39) missense probably benign 0.14
R9381:Hs3st3b1 UTSW 11 63,812,692 (GRCm39) missense probably benign 0.01
R9624:Hs3st3b1 UTSW 11 63,780,110 (GRCm39) missense probably benign 0.11
R9649:Hs3st3b1 UTSW 11 63,812,331 (GRCm39) missense probably benign 0.15
Predicted Primers PCR Primer
(F):5'- AAGCCCTTGGTCTGGTTGAAG -3'
(R):5'- TGATGCCCAGAACCCTCAAG -3'

Sequencing Primer
(F):5'- GCTTGAGGCCCAGGAAATC -3'
(R):5'- CTCAAGGGACAGATCACCATGG -3'
Posted On 2020-09-02