Incidental Mutation 'R8778:Hs3st3a1'
ID 670130
Institutional Source Beutler Lab
Gene Symbol Hs3st3a1
Ensembl Gene ENSMUSG00000047759
Gene Name heparan sulfate (glucosamine) 3-O-sulfotransferase 3A1
Synonyms 3Ost3a
MMRRC Submission 068603-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.098) question?
Stock # R8778 (G1)
Quality Score 225.009
Status Validated
Chromosome 11
Chromosomal Location 64326158-64413667 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 64327251 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Glutamic Acid at position 120 (V120E)
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: V120E

PolyPhen 2 Score 0.290 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000055930
Gene: ENSMUSG00000047759
AA Change: V120E

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: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.3%
Validation Efficiency 98% (48/49)
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: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A430033K04Rik T A 5: 138,645,149 (GRCm39) C345S possibly damaging Het
Acod1 A G 14: 103,292,918 (GRCm39) T481A probably benign Het
Adamtsl1 T C 4: 85,432,687 (GRCm39) V5A probably benign Het
Ahnak2 T A 12: 112,783,158 (GRCm38) Q1023L Het
Akt1 C T 12: 112,625,102 (GRCm39) E149K probably benign Het
Arhgap10 T C 8: 78,140,240 (GRCm39) E240G probably damaging Het
Asap1 G A 15: 63,999,258 (GRCm39) P516S probably benign Het
Ccdc88c T C 12: 100,911,483 (GRCm39) R784G probably benign Het
Cep290 T A 10: 100,350,374 (GRCm39) L656* probably null Het
Chd2 A C 7: 73,079,483 (GRCm39) S1806A possibly damaging Het
Cyp4f15 G T 17: 32,921,378 (GRCm39) A475S probably damaging Het
Dnah12 A G 14: 26,455,718 (GRCm39) T814A probably benign Het
Dnah8 CGTGTCTTCAATATTTTGTTCCCTTTCCCGTAGGTGCCGTCCTTTGACTTTCCTGTGTCTTCAATATTTTGTTCCCTTTCCCGTAGGTGCCGTCCTTTGACTTTCCTGTGTCTTCAATATTTTGTTCCCTTTCCCGTAGGTGCCGTCCTT CGTGTCTTCAATATTTTGTTCCCTTTCCCGTAGGTGCCGTCCTTTGACTTTCCTGTGTCTTCAATATTTTGTTCCCTTTCCCGTAGGTGCCGTCCTT 17: 30,979,841 (GRCm39) probably null Het
Eif4g1 G A 16: 20,492,196 (GRCm39) probably benign Het
Entpd8 G A 2: 24,971,858 (GRCm39) V9I probably benign Het
Frmd4a C T 2: 4,478,026 (GRCm39) T65M probably damaging Het
Gabrr2 T C 4: 33,095,517 (GRCm39) Y469H probably damaging Het
Gjd3 T C 11: 98,873,842 (GRCm39) M1V probably null Het
Golga7 T C 8: 23,735,944 (GRCm39) N101D possibly damaging Het
Hebp1 A G 6: 135,145,068 (GRCm39) F10L probably benign Het
Idh1 CA CAA 1: 65,204,347 (GRCm39) probably null Het
Iho1 A G 9: 108,282,807 (GRCm39) S294P probably damaging Het
Inhbc A G 10: 127,193,693 (GRCm39) S108P probably damaging Het
Itgbl1 T A 14: 124,078,075 (GRCm39) D188E probably benign Het
Lmo7 T G 14: 102,149,503 (GRCm39) S1091A probably damaging Het
Lmo7 T C 14: 102,156,655 (GRCm39) V1275A probably benign Het
Lrrc25 T G 8: 71,070,242 (GRCm39) L8V possibly damaging Het
Lyst T C 13: 13,810,361 (GRCm39) I677T possibly damaging Het
Lyst A G 13: 13,903,152 (GRCm39) N3174S possibly damaging Het
Mgst3 C T 1: 167,203,032 (GRCm39) V80I probably benign Het
Mtmr12 A G 15: 12,270,006 (GRCm39) N698S probably benign Het
Myo18a A G 11: 77,714,150 (GRCm39) Y748C probably damaging Het
Myoz2 T C 3: 122,800,156 (GRCm39) N224S possibly damaging Het
Nebl T C 2: 17,409,078 (GRCm39) Y340C probably damaging Het
Or10h28 T C 17: 33,488,420 (GRCm39) S241P probably damaging Het
Pcdha9 G T 18: 37,132,244 (GRCm39) V438L possibly damaging Het
Pramel13 T C 4: 144,119,466 (GRCm39) D367G probably damaging Het
Semp2l2b T A 10: 21,943,356 (GRCm39) E208V probably damaging Het
Sfrp2 T G 3: 83,674,093 (GRCm39) L82R probably damaging Het
Spata7 T A 12: 98,624,815 (GRCm39) L239Q probably damaging Het
Syncrip A T 9: 88,338,294 (GRCm39) I590N unknown Het
Syne1 T C 10: 5,309,066 (GRCm39) T648A probably benign Het
Tmc5 A G 7: 118,222,816 (GRCm39) Y172C unknown Het
Trim30a A T 7: 104,060,772 (GRCm39) Y335N probably benign Het
Trmt10c A G 16: 55,855,372 (GRCm39) S88P probably benign Het
Trpc3 T C 3: 36,725,070 (GRCm39) E302G probably damaging Het
Ttn T C 2: 76,591,580 (GRCm39) T21030A possibly damaging Het
Uba6 G T 5: 86,260,556 (GRCm39) P1039T possibly damaging Het
Vmn2r75 A T 7: 85,813,497 (GRCm39) I435N probably benign Het
Zfp1008 T C 13: 62,753,169 (GRCm39) K73E possibly damaging Het
Zkscan5 T C 5: 145,155,142 (GRCm39) V271A probably benign Het
Other mutations in Hs3st3a1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02126:Hs3st3a1 APN 11 64,327,331 (GRCm39) missense probably damaging 1.00
R1621:Hs3st3a1 UTSW 11 64,327,049 (GRCm39) missense probably benign 0.00
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
Predicted Primers PCR Primer
(F):5'- CAGGAAGTTCTTGCTGATGCTCTG -3'
(R):5'- AGCGCTCAGAAGTACCCATG -3'

Sequencing Primer
(F):5'- TCTTCTACTGCCTGGCGGAG -3'
(R):5'- AGGCCCTTGTGGTAGCTGC -3'
Posted On 2021-04-30