Incidental Mutation 'IGL01878:Hs3st4'
ID178961
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Hs3st4
Ensembl Gene ENSMUSG00000078591
Gene Nameheparan sulfate (glucosamine) 3-O-sulfotransferase 4
SynonymsGm6915
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.069) question?
Stock #IGL01878
Quality Score
Status
Chromosome7
Chromosomal Location123982869-124398989 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to G at 124397313 bp
ZygosityHeterozygous
Amino Acid Change Cysteine to Glycine at position 401 (C401G)
Ref Sequence ENSEMBL: ENSMUSP00000102045 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000106437]
Predicted Effect probably damaging
Transcript: ENSMUST00000106437
AA Change: C401G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000102045
Gene: ENSMUSG00000078591
AA Change: C401G

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
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: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Alox8 G T 11: 69,197,038 Q147K probably benign Het
Ankib1 T A 5: 3,734,152 M275L possibly damaging Het
Asb2 G A 12: 103,321,663 P546S possibly damaging Het
B9d1 T C 11: 61,507,623 probably benign Het
Col12a1 T C 9: 79,649,975 D1957G possibly damaging Het
Cryzl2 T C 1: 157,472,400 V44A possibly damaging Het
Fbxw19 A C 9: 109,483,279 probably benign Het
Gabrb3 T C 7: 57,816,415 F326L probably damaging Het
Gm10717 C T 9: 3,025,616 S67L probably benign Het
Gm10718 A T 9: 3,025,118 Y194F probably benign Het
Gm11168 T C 9: 3,005,204 C16R probably benign Het
Gm21738 G A 14: 19,416,979 S144L probably benign Het
Gm7808 T A 9: 19,928,246 probably benign Het
Gpam T C 19: 55,083,374 I312V probably benign Het
H2-M10.5 A G 17: 36,773,816 Y144C probably damaging Het
Hivep3 T C 4: 120,095,227 S247P possibly damaging Het
Klhl2 A G 8: 64,759,824 V227A probably damaging Het
Lct T C 1: 128,294,266 N1512S probably damaging Het
Lipm T A 19: 34,116,511 L276Q possibly damaging Het
Lmf2 T A 15: 89,352,418 H515L probably damaging Het
Mccc1 G A 3: 35,975,892 S423L probably damaging Het
Mettl21e G A 1: 44,211,033 S71L probably null Het
Muc16 T A 9: 18,495,543 H251L possibly damaging Het
Neb T C 2: 52,169,840 probably benign Het
Ntf5 T C 7: 45,416,026 I194T probably damaging Het
Olfr1124 T C 2: 87,434,970 I161T possibly damaging Het
Olfr1154 A T 2: 87,903,331 L115* probably null Het
Olfr1265 T C 2: 90,037,134 S72P probably damaging Het
Olfr1361 T C 13: 21,658,783 D180G possibly damaging Het
Olfr99 A G 17: 37,280,000 V140A possibly damaging Het
Pigv T C 4: 133,665,117 I247M probably benign Het
Pik3r5 A G 11: 68,492,530 N392D probably benign Het
Postn A G 3: 54,383,480 probably null Het
Prl2c5 G A 13: 13,185,817 S23N probably benign Het
Prpf40b T C 15: 99,306,532 C220R possibly damaging Het
Pzp A G 6: 128,495,298 S843P probably damaging Het
Rpl23 C A 11: 97,778,351 R85L probably benign Het
Shcbp1 A G 8: 4,749,721 S252P probably damaging Het
Slc26a7 C T 4: 14,519,388 probably null Het
Sptbn4 T C 7: 27,364,146 E2285G probably damaging Het
Telo2 G T 17: 25,101,358 T784K probably benign Het
Tnfrsf19 C T 14: 60,996,644 V136M probably damaging Het
Trpm5 T A 7: 143,074,497 I22F probably damaging Het
Trpv6 G T 6: 41,626,867 probably benign Het
Vmn1r173 T G 7: 23,702,452 H37Q probably damaging Het
Vmn2r-ps159 C T 4: 156,338,254 noncoding transcript Het
Xpo6 T A 7: 126,174,193 H20L probably benign Het
Zfp462 T C 4: 55,010,613 Y860H probably damaging Het
Other mutations in Hs3st4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03078:Hs3st4 APN 7 124397446 missense probably damaging 1.00
R0138:Hs3st4 UTSW 7 124397193 missense probably benign 0.01
R1697:Hs3st4 UTSW 7 124396857 missense probably benign
R2063:Hs3st4 UTSW 7 124397013 missense probably benign 0.42
R4891:Hs3st4 UTSW 7 124396829 missense possibly damaging 0.57
R4922:Hs3st4 UTSW 7 124397187 missense probably damaging 1.00
R5084:Hs3st4 UTSW 7 124397295 missense probably damaging 1.00
R5606:Hs3st4 UTSW 7 124397142 missense probably damaging 1.00
R5736:Hs3st4 UTSW 7 124397439 missense probably damaging 0.99
R5859:Hs3st4 UTSW 7 123983608 missense probably benign 0.12
R6861:Hs3st4 UTSW 7 124396829 missense possibly damaging 0.57
R7429:Hs3st4 UTSW 7 124397382 missense probably damaging 1.00
R7431:Hs3st4 UTSW 7 123983290 missense probably damaging 0.99
R7472:Hs3st4 UTSW 7 124397026 missense probably damaging 0.99
Posted On2014-05-07