Incidental Mutation 'R5606:Hs3st4'
ID 439295
Institutional Source Beutler Lab
Gene Symbol Hs3st4
Ensembl Gene ENSMUSG00000078591
Gene Name heparan sulfate (glucosamine) 3-O-sulfotransferase 4
Synonyms Gm6915
MMRRC Submission 043157-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.064) question?
Stock # R5606 (G1)
Quality Score 225
Status Not validated
Chromosome 7
Chromosomal Location 123582092-123998212 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 123996365 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Lysine at position 344 (Q344K)
Ref Sequence ENSEMBL: ENSMUSP00000102045 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000106437]
AlphaFold D3YVV6
Predicted Effect probably damaging
Transcript: ENSMUST00000106437
AA Change: Q344K

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000102045
Gene: ENSMUSG00000078591
AA Change: Q344K

DomainStartEndE-ValueType
low complexity region 5 24 N/A INTRINSIC
low complexity region 52 60 N/A INTRINSIC
low complexity region 68 94 N/A INTRINSIC
low complexity region 106 112 N/A INTRINSIC
low complexity region 158 171 N/A INTRINSIC
Pfam:Sulfotransfer_1 190 439 6.4e-46 PFAM
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.5%
  • 20x: 96.1%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes the enzyme heparan sulfate D-glucosaminyl 3-O-sulfotransferase 4. This enzyme generates 3-O-sulfated glucosaminyl residues in heparan sulfate. Cell surface heparan sulfate is used as a receptor by herpes simplex virus type 1 (HSV-1), and expression of this gene is thought to play a role in HSV-1 pathogenesis. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aldh1a7 A G 19: 20,699,731 (GRCm39) S75P probably damaging Het
Ankib1 A T 5: 3,751,907 (GRCm39) I711N probably damaging Het
Ankmy2 A G 12: 36,215,920 (GRCm39) N40S probably benign Het
Armc8 T C 9: 99,418,315 (GRCm39) K80E probably benign Het
Blm C A 7: 80,110,580 (GRCm39) probably null Het
Cand1 C A 10: 119,047,359 (GRCm39) Q710H possibly damaging Het
Ckap2l A T 2: 129,127,959 (GRCm39) I73N probably damaging Het
Ddx27 T A 2: 166,861,886 (GRCm39) D129E probably benign Het
Dnm3 T C 1: 162,113,587 (GRCm39) E491G probably damaging Het
Fgd6 C A 10: 93,974,190 (GRCm39) Y1310* probably null Het
Hnrnph3 C T 10: 62,855,222 (GRCm39) R21H possibly damaging Het
Hyal3 T C 9: 107,462,265 (GRCm39) S100P probably benign Het
Map3k19 G A 1: 127,750,694 (GRCm39) R886C probably benign Het
Mmrn2 G A 14: 34,119,581 (GRCm39) D187N probably damaging Het
Myo5c G A 9: 75,182,790 (GRCm39) A810T probably damaging Het
Noxa1 T A 2: 24,976,292 (GRCm39) E332V possibly damaging Het
Or10al7 T C 17: 38,365,693 (GRCm39) T264A probably damaging Het
Or12j5 T A 7: 140,083,713 (GRCm39) I220F probably damaging Het
Or51r1 T C 7: 102,228,481 (GRCm39) S260P probably damaging Het
Or7c70 A G 10: 78,683,395 (GRCm39) M118T probably benign Het
Parg T A 14: 31,984,693 (GRCm39) V241E probably damaging Het
Pitrm1 T A 13: 6,610,101 (GRCm39) V391D probably damaging Het
Plch1 A T 3: 63,648,108 (GRCm39) V421E probably benign Het
Slc27a2 C T 2: 126,406,610 (GRCm39) A98V probably damaging Het
Spta1 A T 1: 174,047,468 (GRCm39) H1704L probably damaging Het
Tbpl2 G A 2: 23,977,245 (GRCm39) P258S possibly damaging Het
Thoc2l T C 5: 104,669,744 (GRCm39) I1422T probably benign Het
Tlr11 T C 14: 50,599,717 (GRCm39) C568R probably benign Het
Tmem260 T A 14: 48,722,437 (GRCm39) M324K probably damaging Het
Tmprss11g T A 5: 86,635,269 (GRCm39) T402S probably damaging Het
Trim21 C G 7: 102,208,813 (GRCm39) R302P probably damaging Het
Uox T A 3: 146,316,057 (GRCm39) Y21* probably null Het
Vmn1r74 A G 7: 11,580,822 (GRCm39) M41V probably benign Het
Vmn2r59 A C 7: 41,695,318 (GRCm39) S365A probably benign Het
Zfp345 A T 2: 150,316,788 (GRCm39) Y6* probably null Het
Zpld2 A C 4: 133,927,523 (GRCm39) V410G probably benign Het
Other mutations in Hs3st4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01878:Hs3st4 APN 7 123,996,536 (GRCm39) missense probably damaging 1.00
IGL03078:Hs3st4 APN 7 123,996,669 (GRCm39) missense probably damaging 1.00
R0138:Hs3st4 UTSW 7 123,996,416 (GRCm39) missense probably benign 0.01
R1697:Hs3st4 UTSW 7 123,996,080 (GRCm39) missense probably benign
R2063:Hs3st4 UTSW 7 123,996,236 (GRCm39) missense probably benign 0.42
R4891:Hs3st4 UTSW 7 123,996,052 (GRCm39) missense possibly damaging 0.57
R4922:Hs3st4 UTSW 7 123,996,410 (GRCm39) missense probably damaging 1.00
R5084:Hs3st4 UTSW 7 123,996,518 (GRCm39) missense probably damaging 1.00
R5736:Hs3st4 UTSW 7 123,996,662 (GRCm39) missense probably damaging 0.99
R5859:Hs3st4 UTSW 7 123,582,831 (GRCm39) missense probably benign 0.12
R6861:Hs3st4 UTSW 7 123,996,052 (GRCm39) missense possibly damaging 0.57
R7429:Hs3st4 UTSW 7 123,996,605 (GRCm39) missense probably damaging 1.00
R7431:Hs3st4 UTSW 7 123,582,513 (GRCm39) missense probably damaging 0.99
R7472:Hs3st4 UTSW 7 123,996,249 (GRCm39) missense probably damaging 0.99
R9051:Hs3st4 UTSW 7 123,582,680 (GRCm39) missense probably damaging 0.99
R9272:Hs3st4 UTSW 7 123,582,749 (GRCm39) missense probably benign
Z1190:Hs3st4 UTSW 7 123,996,476 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- GTACGAAACCCAGTGACCAG -3'
(R):5'- GTCAATTCGGGGATGAGTCC -3'

Sequencing Primer
(F):5'- GACCAGGGCCATTTCTGACTATAC -3'
(R):5'- GGATGAGTCCGACCTTTGCTC -3'
Posted On 2016-10-26