Incidental Mutation 'R8505:Hs3st3a1'
ID 655530
Institutional Source Beutler Lab
Gene Symbol Hs3st3a1
Ensembl Gene ENSMUSG00000047759
Gene Name heparan sulfate (glucosamine) 3-O-sulfotransferase 3A1
Synonyms 3Ost3a
MMRRC Submission 067841-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.098) question?
Stock # R8505 (G1)
Quality Score 225.009
Status Not validated
Chromosome 11
Chromosomal Location 64326158-64413667 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 64411614 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Lysine at position 384 (M384K)
Ref Sequence ENSEMBL: ENSMUSP00000055930 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000058652]
AlphaFold Q8BKN6
Predicted Effect possibly damaging
Transcript: ENSMUST00000058652
AA Change: M384K

PolyPhen 2 Score 0.476 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000055930
Gene: ENSMUSG00000047759
AA Change: M384K

DomainStartEndE-ValueType
Pfam:Sulfotransfer_3 28 320 2.5e-11 PFAM
Pfam:Sulfotransfer_1 139 385 7.6e-48 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.3%
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: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca3 A T 17: 24,593,471 (GRCm39) K289N probably damaging Het
Adamts5 C A 16: 85,696,944 (GRCm39) S71I probably benign Het
Astn2 T C 4: 65,299,825 (GRCm39) Y1308C unknown Het
Cfap54 A C 10: 92,814,855 (GRCm39) M1326R probably benign Het
Chga A G 12: 102,528,004 (GRCm39) E165G probably damaging Het
Corin T A 5: 72,592,750 (GRCm39) I216F probably benign Het
D930048N14Rik GGG GGGG 11: 51,541,946 (GRCm39) probably null Het
Hectd1 A T 12: 51,797,145 (GRCm39) W2198R probably damaging Het
Ifi207 GTT GT 1: 173,557,016 (GRCm39) probably null Het
Ighv1-37 A T 12: 114,860,248 (GRCm39) V15E probably benign Het
Kank4 G A 4: 98,673,913 (GRCm39) probably benign Het
Mical2 C A 7: 111,919,007 (GRCm39) T432N probably benign Het
Morn1 A C 4: 155,177,792 (GRCm39) E201A unknown Het
Myo5c T A 9: 75,153,423 (GRCm39) I103N probably damaging Het
Nelfe G A 17: 35,073,779 (GRCm39) probably null Het
Neo1 C A 9: 58,820,566 (GRCm39) V786L probably benign Het
Nrxn2 T A 19: 6,540,163 (GRCm39) V821E probably damaging Het
Ppp2r3d A G 9: 124,439,084 (GRCm38) F111S Het
Rapgef2 G A 3: 78,986,349 (GRCm39) R1064* probably null Het
Rpusd2 A G 2: 118,869,007 (GRCm39) I477V probably benign Het
Rrm2 A G 12: 24,759,384 (GRCm39) I128V probably benign Het
Ryr3 A T 2: 112,506,215 (GRCm39) V3469E probably damaging Het
Sowahb T A 5: 93,190,450 (GRCm39) E756D possibly damaging Het
Sppl2b TGTCACAGGT TGT 10: 80,701,903 (GRCm39) probably null Het
Stk35 C T 2: 129,643,649 (GRCm39) A211V probably damaging Het
Ston1 A G 17: 88,943,017 (GRCm39) H141R probably benign Het
Tcaf2 A G 6: 42,606,475 (GRCm39) I493T probably benign Het
Them4 A T 3: 94,224,847 (GRCm39) T75S probably benign Het
Tjp2 T C 19: 24,088,438 (GRCm39) D723G probably null Het
Tnn T C 1: 159,973,593 (GRCm39) D258G probably damaging Het
Ttn A G 2: 76,745,779 (GRCm39) I5090T probably benign Het
Ubr4 G A 4: 139,156,880 (GRCm39) G1013S Het
Utp20 A G 10: 88,653,870 (GRCm39) L250P probably benign Het
Vmn1r199 A G 13: 22,567,317 (GRCm39) T204A probably benign Het
Zfp518b T C 5: 38,830,119 (GRCm39) T629A 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
R8778:Hs3st3a1 UTSW 11 64,327,251 (GRCm39) missense probably benign 0.29
Predicted Primers PCR Primer
(F):5'- TCTACTTCAACCAGACCAAGGG -3'
(R):5'- AGTGGAGTACTGGTGCTCATTC -3'

Sequencing Primer
(F):5'- GCTTCCCGTGCCTCAAGAAG -3'
(R):5'- GAGATGCTTAGATACATGAAATCTCC -3'
Posted On 2020-10-20