Incidental Mutation 'R6102:Hs3st3b1'
ID 485324
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 044252-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6102 (G1)
Quality Score 82.5134
Status Validated
Chromosome 11
Chromosomal Location 63776618-63813116 bp(-) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) A to T at 63812681 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Stop codon at position 11 (C11*)
Ref Sequence ENSEMBL: ENSMUSP00000091647 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000094103]
AlphaFold Q9QZS6
Predicted Effect probably null
Transcript: ENSMUST00000094103
AA Change: C11*
SMART Domains Protein: ENSMUSP00000091647
Gene: ENSMUSG00000070407
AA Change: C11*

DomainStartEndE-ValueType
Pfam:Sulfotransfer_3 6 318 1.7e-11 PFAM
Pfam:Sulfotransfer_1 137 383 6.3e-48 PFAM
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.4%
  • 20x: 95.6%
Validation Efficiency 97% (65/67)
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: 67 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Alox12e A G 11: 70,210,849 (GRCm39) I290T possibly damaging Het
Apeh T A 9: 107,963,638 (GRCm39) D559V probably damaging Het
Aspm T A 1: 139,405,197 (GRCm39) Y1361* probably null Het
Atad5 G T 11: 80,002,398 (GRCm39) probably null Het
Ccr4 C T 9: 114,325,561 (GRCm39) probably null Het
Clasrp G A 7: 19,320,393 (GRCm39) probably benign Het
Cldn23 A G 8: 36,292,705 (GRCm39) M261T probably benign Het
Cmya5 T C 13: 93,230,739 (GRCm39) M1450V probably benign Het
Cyp4v3 T A 8: 45,773,197 (GRCm39) E202V probably damaging Het
Dnah7a A T 1: 53,598,299 (GRCm39) V1412E probably benign Het
Dnah9 A G 11: 65,881,342 (GRCm39) S2578P probably damaging Het
Dsc2 T A 18: 20,180,165 (GRCm39) Y196F probably benign Het
Exoc1 T C 5: 76,685,626 (GRCm39) S113P probably damaging Het
Fbxo6 A T 4: 148,233,979 (GRCm39) I39N probably damaging Het
Frs3 C T 17: 48,013,596 (GRCm39) H173Y probably damaging Het
Ginm1 G T 10: 7,644,260 (GRCm39) T323K probably benign Het
Golgb1 T C 16: 36,733,227 (GRCm39) S825P probably damaging Het
Ighv3-3 G C 12: 114,160,080 (GRCm39) A110G possibly damaging Het
Igkv6-20 G A 6: 70,312,853 (GRCm39) H107Y probably benign Het
Kcnj16 A G 11: 110,916,403 (GRCm39) E355G probably benign Het
Lig4 C T 8: 10,022,872 (GRCm39) G303S probably damaging Het
Map1b A C 13: 99,562,381 (GRCm39) V2443G unknown Het
Map3k6 T C 4: 132,974,442 (GRCm39) probably null Het
Mmp13 A G 9: 7,276,688 (GRCm39) Q261R probably benign Het
Mphosph9 T A 5: 124,435,772 (GRCm39) I554F possibly damaging Het
Mrgpra3 A T 7: 47,239,897 (GRCm39) F10I possibly damaging Het
Ms4a18 G A 19: 10,990,887 (GRCm39) T69I probably benign Het
Mtmr3 T C 11: 4,437,673 (GRCm39) N927S probably damaging Het
Necab1 T A 4: 14,989,211 (GRCm39) Q188L probably benign Het
Nfatc2 A G 2: 168,361,427 (GRCm39) probably benign Het
Or5i1 T C 2: 87,613,192 (GRCm39) F103L probably damaging Het
Or5p70 T C 7: 107,994,491 (GRCm39) S55P probably damaging Het
Or7g34 T C 9: 19,478,318 (GRCm39) M121V possibly damaging Het
Paip2b A C 6: 83,785,828 (GRCm39) V134G possibly damaging Het
Pax3 T C 1: 78,108,984 (GRCm39) T225A probably damaging Het
Pbx1 C A 1: 168,011,134 (GRCm39) A298S probably benign Het
Pcdhac2 A T 18: 37,279,335 (GRCm39) K772* probably null Het
Pcsk4 A T 10: 80,161,651 (GRCm39) Y163* probably null Het
Plcd3 A G 11: 102,971,470 (GRCm39) V58A probably damaging Het
Plek2 T A 12: 78,946,867 (GRCm39) T57S possibly damaging Het
Plscr2 C T 9: 92,169,721 (GRCm39) T57I probably benign Het
Ppp2r5b A G 19: 6,284,768 (GRCm39) S32P probably benign Het
Ppp3r2 C T 4: 49,682,022 (GRCm39) probably benign Het
Psme4 T A 11: 30,815,567 (GRCm39) L1693H probably damaging Het
Rrbp1 T A 2: 143,830,313 (GRCm39) Q618L probably damaging Het
Rsf1 ATGGCG ATGGCGACGGTGGCG 7: 97,229,111 (GRCm39) probably benign Het
Rsrc1 C T 3: 66,901,982 (GRCm39) P44L unknown Het
Serpina3b A T 12: 104,100,428 (GRCm39) T337S probably benign Het
Slc18a2 T C 19: 59,282,310 (GRCm39) Y506H probably benign Het
Slc9a9 A G 9: 94,818,482 (GRCm39) Y292C probably benign Het
Spta1 T C 1: 174,052,086 (GRCm39) V1840A probably benign Het
Ssb T C 2: 69,701,552 (GRCm39) *416Q probably null Het
Strada A G 11: 106,059,262 (GRCm39) V209A probably benign Het
Tbc1d31 A T 15: 57,799,489 (GRCm39) D225V probably damaging Het
Tgm4 T C 9: 122,885,600 (GRCm39) F381L probably benign Het
Tmem120b T A 5: 123,253,207 (GRCm39) Y203N probably damaging Het
Tmem176b A G 6: 48,812,868 (GRCm39) V109A probably benign Het
Tnfrsf11a C A 1: 105,747,671 (GRCm39) L201M possibly damaging Het
Ttn C A 2: 76,804,694 (GRCm39) probably null Het
Tubb2a T C 13: 34,259,326 (GRCm39) I155V probably benign Het
Vmn1r5 A G 6: 56,963,099 (GRCm39) D258G probably damaging Het
Vmn2r121 T C X: 123,043,272 (GRCm39) T120A probably benign Het
Vmn2r19 A T 6: 123,306,907 (GRCm39) I472F probably damaging Het
Vwa3a A G 7: 120,375,361 (GRCm39) probably null Het
Zfp273 A G 13: 67,970,466 (GRCm39) Y5C probably damaging Het
Zfp647 G A 15: 76,796,285 (GRCm39) P125L probably damaging Het
Zfp825 A G 13: 74,628,772 (GRCm39) L248P probably damaging 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
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
R8350:Hs3st3b1 UTSW 11 63,780,390 (GRCm39) missense probably benign 0.14
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'- TCTCATTCGGAGCTGTGACC -3'
(R):5'- TCTCGTGGGCATCATGTCAAG -3'

Sequencing Primer
(F):5'- CTGGCTGAGCGTGAGTAGC -3'
(R):5'- ATCATGTCAAGAGCCGTCG -3'
Posted On 2017-08-16