Incidental Mutation 'IGL02696:Hs6st3'
ID303941
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Hs6st3
Ensembl Gene ENSMUSG00000053465
Gene Nameheparan sulfate 6-O-sulfotransferase 3
Synonyms6OST3
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.377) question?
Stock #IGL02696
Quality Score
Status
Chromosome14
Chromosomal Location119138341-119869815 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 119869319 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 380 (I380F)
Ref Sequence ENSEMBL: ENSMUSP00000070394 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000065904]
Predicted Effect probably damaging
Transcript: ENSMUST00000065904
AA Change: I380F

PolyPhen 2 Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000070394
Gene: ENSMUSG00000053465
AA Change: I380F

DomainStartEndE-ValueType
signal peptide 1 28 N/A INTRINSIC
low complexity region 46 61 N/A INTRINSIC
low complexity region 67 84 N/A INTRINSIC
low complexity region 86 115 N/A INTRINSIC
Pfam:Sulfotransfer_2 137 410 4.7e-83 PFAM
low complexity region 425 447 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Heparan sulfate (HS) sulfotransferases, such as HS6ST3, modify HS to generate structures required for interactions between HS and a variety of proteins. These interactions are implicated in proliferation and differentiation, adhesion, migration, inflammation, blood coagulation, and other diverse processes (Habuchi et al., 2000 [PubMed 10644753]).[supplied by OMIM, Mar 2008]
Allele List at MGI
Other mutations in this stock
Total: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actr8 A G 14: 29,982,671 T43A probably benign Het
Adgrd1 T C 5: 129,140,854 probably benign Het
Asxl1 T A 2: 153,400,195 Y888* probably null Het
Atp8b5 T C 4: 43,369,634 V924A possibly damaging Het
AU040320 T C 4: 126,842,587 L821P probably damaging Het
Capn11 T C 17: 45,632,709 N596S probably damaging Het
Cnot1 C A 8: 95,745,017 V1219F probably benign Het
Cope T C 8: 70,310,493 probably null Het
Crim1 A G 17: 78,279,973 E169G probably damaging Het
Csmd3 A T 15: 47,669,669 F2395I probably benign Het
Ctso A C 3: 81,951,384 D220A possibly damaging Het
Cttnbp2 G A 6: 18,434,129 P577S probably benign Het
D930048N14Rik T A 11: 51,653,994 probably benign Het
Dck T A 5: 88,772,807 S129T probably damaging Het
Dlc1 A G 8: 36,574,172 V1301A possibly damaging Het
Dusp16 G A 6: 134,718,435 R478C probably damaging Het
Ermap C T 4: 119,187,707 R49K possibly damaging Het
Flnc A G 6: 29,446,698 K969R probably damaging Het
Gjb2 A T 14: 57,100,312 F146L probably damaging Het
Hdc A T 2: 126,594,300 D550E probably damaging Het
Htr1d T C 4: 136,443,411 V317A probably benign Het
Kalrn A T 16: 34,220,114 M963K probably damaging Het
Kl T A 5: 150,980,985 S401T probably benign Het
Lair1 A G 7: 4,010,849 probably benign Het
Lrp5 C T 19: 3,602,253 V1206I probably benign Het
Matn4 A G 2: 164,396,838 F343S probably benign Het
Mrgpra4 G T 7: 47,981,503 R117S possibly damaging Het
Myh14 T C 7: 44,665,106 Y131C probably damaging Het
Nap1l4 A T 7: 143,524,161 N345K possibly damaging Het
Oas1c T C 5: 120,805,463 R204G probably benign Het
Olfr1061 T A 2: 86,413,615 T146S probably benign Het
Olfr677 A G 7: 105,056,362 T39A probably benign Het
Pakap T A 4: 57,854,663 D58E probably damaging Het
Pin1 G A 9: 20,663,235 G150E probably benign Het
R3hdm2 T C 10: 127,465,019 probably null Het
Rai1 C A 11: 60,193,956 H1843Q probably benign Het
Siae G T 9: 37,631,384 A194S probably damaging Het
Slc6a12 G T 6: 121,363,252 V485L probably benign Het
Stil T G 4: 115,041,495 S1107R probably damaging Het
Syt16 T C 12: 74,129,411 V18A possibly damaging Het
Trpm8 A G 1: 88,348,051 D457G probably damaging Het
Tshr A T 12: 91,493,329 T66S possibly damaging Het
Ttn T A 2: 76,707,295 Q34763L probably benign Het
Ubr2 T A 17: 46,963,765 M830L probably benign Het
Ulk1 A G 5: 110,793,052 F337S probably damaging Het
Other mutations in Hs6st3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00909:Hs6st3 APN 14 119139034 missense probably damaging 1.00
IGL00973:Hs6st3 APN 14 119869407 missense possibly damaging 0.58
IGL02185:Hs6st3 APN 14 119868884 critical splice acceptor site probably null
IGL02820:Hs6st3 APN 14 119139080 missense possibly damaging 0.95
R0241:Hs6st3 UTSW 14 119138820 missense probably benign 0.32
R0241:Hs6st3 UTSW 14 119138820 missense probably benign 0.32
R0634:Hs6st3 UTSW 14 119869062 nonsense probably null
R0737:Hs6st3 UTSW 14 119869383 missense possibly damaging 0.82
R0750:Hs6st3 UTSW 14 119138707 small deletion probably benign
R1975:Hs6st3 UTSW 14 119138476 missense probably benign 0.33
R1977:Hs6st3 UTSW 14 119138476 missense probably benign 0.33
R2025:Hs6st3 UTSW 14 119869389 missense probably damaging 1.00
R2116:Hs6st3 UTSW 14 119869287 missense probably damaging 1.00
R2295:Hs6st3 UTSW 14 119138445 missense probably benign 0.15
R3154:Hs6st3 UTSW 14 119868977 missense probably damaging 0.99
R5700:Hs6st3 UTSW 14 119138787 nonsense probably null
R5744:Hs6st3 UTSW 14 119138440 missense possibly damaging 0.96
R5852:Hs6st3 UTSW 14 119869326 missense probably damaging 1.00
R5861:Hs6st3 UTSW 14 119138853 missense possibly damaging 0.89
R6262:Hs6st3 UTSW 14 119138991 missense possibly damaging 0.95
R6408:Hs6st3 UTSW 14 119138634 missense probably benign 0.44
R7140:Hs6st3 UTSW 14 119139102 missense probably damaging 1.00
R7598:Hs6st3 UTSW 14 119869338 missense probably damaging 1.00
R8026:Hs6st3 UTSW 14 119869556 missense probably damaging 0.99
Posted On2015-04-16