Incidental Mutation 'IGL00973:Hs6st3'
ID28989
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 #IGL00973
Quality Score
Status
Chromosome14
Chromosomal Location119138341-119869815 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 119869407 bp
ZygosityHeterozygous
Amino Acid Change Tyrosine to Phenylalanine at position 409 (Y409F)
Ref Sequence ENSEMBL: ENSMUSP00000070394 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000065904]
Predicted Effect possibly damaging
Transcript: ENSMUST00000065904
AA Change: Y409F

PolyPhen 2 Score 0.583 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000070394
Gene: ENSMUSG00000053465
AA Change: Y409F

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: 31 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Atp10a G T 7: 58,807,470 D906Y probably damaging Het
Cdh18 A G 15: 23,173,796 K32R probably damaging Het
Chtf18 G A 17: 25,722,116 A636V probably benign Het
Clcn6 A G 4: 148,013,788 probably benign Het
Dspp A C 5: 104,176,892 K374Q possibly damaging Het
Dusp27 T C 1: 166,099,458 S862G probably benign Het
Ehmt2 C T 17: 34,910,815 R962C probably damaging Het
Frrs1l T C 4: 56,972,369 K111E probably damaging Het
Galnt5 A G 2: 57,998,939 T184A probably benign Het
Glud1 C T 14: 34,319,942 T169I probably damaging Het
Hinfp T G 9: 44,298,139 D283A probably benign Het
Hmcn2 C T 2: 31,383,821 probably benign Het
Ighv15-2 A T 12: 114,564,870 V20D possibly damaging Het
Kif17 A G 4: 138,275,057 T91A probably benign Het
Mical3 T C 6: 120,934,924 probably benign Het
Myo1e C T 9: 70,338,787 T420M probably damaging Het
Olfr876 C A 9: 37,804,782 S290R probably damaging Het
Ovgp1 T A 3: 105,981,277 Y316* probably null Het
Plekha1 T A 7: 130,911,013 V313D probably damaging Het
Polr1e C A 4: 45,031,364 probably benign Het
Prdm15 A T 16: 97,806,167 probably benign Het
Ptpn4 T A 1: 119,741,371 M250L probably benign Het
Rtn1 A T 12: 72,408,511 L14Q probably benign Het
Sec24a T C 11: 51,729,577 probably null Het
Sox7 A G 14: 63,948,187 H224R probably benign Het
Sucla2 T C 14: 73,590,907 I318T possibly damaging Het
Tubb4b-ps1 A G 5: 7,179,408 probably benign Het
Ube2o T A 11: 116,541,205 K940M probably damaging Het
Usp20 A C 2: 31,004,950 N149T probably damaging Het
Utp6 C T 11: 79,955,705 W150* probably null Het
Wdr27 A C 17: 14,913,878 H475Q probably benign Het
Other mutations in Hs6st3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00909:Hs6st3 APN 14 119139034 missense probably damaging 1.00
IGL02185:Hs6st3 APN 14 119868884 critical splice acceptor site probably null
IGL02696:Hs6st3 APN 14 119869319 missense probably damaging 0.98
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 On2013-04-17