Incidental Mutation 'IGL01878:Hs3st4'
ID 178961
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Hs3st4
Ensembl Gene ENSMUSG00000078591
Gene Name heparan sulfate (glucosamine) 3-O-sulfotransferase 4
Synonyms Gm6915
Accession Numbers
Essential gene? Probably non essential (E-score: 0.065) question?
Stock # IGL01878
Quality Score
Status
Chromosome 7
Chromosomal Location 123582092-123998212 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 123996536 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Glycine at position 401 (C401G)
Ref Sequence ENSEMBL: ENSMUSP00000102045 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000106437]
AlphaFold D3YVV6
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: 69,087,864 (GRCm39) Q147K probably benign Het
Ankib1 T A 5: 3,784,152 (GRCm39) M275L possibly damaging Het
Asb2 G A 12: 103,287,922 (GRCm39) P546S possibly damaging Het
B9d1 T C 11: 61,398,449 (GRCm39) probably benign Het
Col12a1 T C 9: 79,557,257 (GRCm39) D1957G possibly damaging Het
Cryzl2 T C 1: 157,299,970 (GRCm39) V44A possibly damaging Het
Fbxw19 A C 9: 109,312,347 (GRCm39) probably benign Het
Gabrb3 T C 7: 57,466,163 (GRCm39) F326L probably damaging Het
Gm10717 C T 9: 3,025,616 (GRCm39) S67L probably benign Het
Gm10718 A T 9: 3,025,118 (GRCm39) Y194F probably benign Het
Gm11168 T C 9: 3,005,204 (GRCm39) C16R probably benign Het
Gm21738 G A 14: 19,416,979 (GRCm38) S144L probably benign Het
Gm7808 T A 9: 19,839,542 (GRCm39) probably benign Het
Gpam T C 19: 55,071,806 (GRCm39) I312V probably benign Het
H2-M10.5 A G 17: 37,084,708 (GRCm39) Y144C probably damaging Het
Hivep3 T C 4: 119,952,424 (GRCm39) S247P possibly damaging Het
Klhl2 A G 8: 65,212,858 (GRCm39) V227A probably damaging Het
Lct T C 1: 128,222,003 (GRCm39) N1512S probably damaging Het
Lipm T A 19: 34,093,911 (GRCm39) L276Q possibly damaging Het
Lmf2 T A 15: 89,236,621 (GRCm39) H515L probably damaging Het
Mccc1 G A 3: 36,030,041 (GRCm39) S423L probably damaging Het
Mettl21e G A 1: 44,250,193 (GRCm39) S71L probably null Het
Muc16 T A 9: 18,406,839 (GRCm39) H251L possibly damaging Het
Neb T C 2: 52,059,852 (GRCm39) probably benign Het
Ntf5 T C 7: 45,065,450 (GRCm39) I194T probably damaging Het
Or10ag58 T C 2: 87,265,314 (GRCm39) I161T possibly damaging Het
Or1o4 A G 17: 37,590,891 (GRCm39) V140A possibly damaging Het
Or2w6 T C 13: 21,842,953 (GRCm39) D180G possibly damaging Het
Or4x11 T C 2: 89,867,478 (GRCm39) S72P probably damaging Het
Or9m1 A T 2: 87,733,675 (GRCm39) L115* probably null Het
Pigv T C 4: 133,392,428 (GRCm39) I247M probably benign Het
Pik3r5 A G 11: 68,383,356 (GRCm39) N392D probably benign Het
Postn A G 3: 54,290,901 (GRCm39) probably null Het
Prl2c5 G A 13: 13,360,402 (GRCm39) S23N probably benign Het
Prpf40b T C 15: 99,204,413 (GRCm39) C220R possibly damaging Het
Pzp A G 6: 128,472,261 (GRCm39) S843P probably damaging Het
Rpl23 C A 11: 97,669,177 (GRCm39) R85L probably benign Het
Shcbp1 A G 8: 4,799,721 (GRCm39) S252P probably damaging Het
Slc26a7 C T 4: 14,519,388 (GRCm39) probably null Het
Sptbn4 T C 7: 27,063,571 (GRCm39) E2285G probably damaging Het
Telo2 G T 17: 25,320,332 (GRCm39) T784K probably benign Het
Tnfrsf19 C T 14: 61,234,093 (GRCm39) V136M probably damaging Het
Trpm5 T A 7: 142,628,234 (GRCm39) I22F probably damaging Het
Trpv6 G T 6: 41,603,801 (GRCm39) probably benign Het
Vmn1r173 T G 7: 23,401,877 (GRCm39) H37Q probably damaging Het
Vmn2r129 C T 4: 156,690,549 (GRCm39) noncoding transcript Het
Xpo6 T A 7: 125,773,365 (GRCm39) H20L probably benign Het
Zfp462 T C 4: 55,010,613 (GRCm39) Y860H probably damaging Het
Other mutations in Hs3st4
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
R5606:Hs3st4 UTSW 7 123,996,365 (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
Posted On 2014-05-07