Incidental Mutation 'IGL00909:Hs6st3'
ID28933
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: 0.354) question?
Stock #IGL00909
Quality Score
Status
Chromosome14
Chromosomal Location119138341-119869815 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 119139034 bp
ZygosityHeterozygous
Amino Acid Change Leucine to Glutamine at position 207 (L207Q)
Ref Sequence ENSEMBL: ENSMUSP00000070394 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000065904]
Predicted Effect probably damaging
Transcript: ENSMUST00000065904
AA Change: L207Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000070394
Gene: ENSMUSG00000053465
AA Change: L207Q

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: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4931429L15Rik T A 9: 46,308,952 D94V possibly damaging Het
9330182L06Rik A T 5: 9,380,282 D64V probably damaging Het
Adamts20 T C 15: 94,379,813 Y256C probably damaging Het
Ampd1 A C 3: 103,088,428 D218A probably benign Het
Arcn1 T C 9: 44,751,354 N332D probably damaging Het
Arpp21 T A 9: 112,176,123 I219F probably damaging Het
Bicra A T 7: 15,996,577 D5E possibly damaging Het
Birc2 A C 9: 7,833,665 W272G probably damaging Het
Cd2ap A T 17: 42,830,114 probably benign Het
Celsr1 G A 15: 85,922,235 R974W probably damaging Het
Col4a2 A C 8: 11,448,167 T1659P possibly damaging Het
Coq9 C T 8: 94,851,902 L215F possibly damaging Het
Cped1 A G 6: 22,122,427 probably benign Het
Gga3 T A 11: 115,591,741 R105W probably damaging Het
Gm996 A G 2: 25,579,407 L164P probably damaging Het
Hmcn1 C T 1: 150,638,869 R3584Q probably benign Het
Ift43 A G 12: 86,162,033 E141G probably damaging Het
Mrps31 T G 8: 22,427,825 F287V probably damaging Het
Naca A G 10: 128,041,682 probably benign Het
Nrf1 C T 6: 30,098,478 T135M probably damaging Het
Olfr510 A G 7: 108,667,700 I95V possibly damaging Het
Pfas A T 11: 69,003,814 Y8* probably null Het
Ppip5k1 G A 2: 121,347,358 R323W probably damaging Het
Rasal1 A G 5: 120,664,807 E376G probably damaging Het
Rfc1 A G 5: 65,279,699 L546P probably benign Het
Rheb A T 5: 24,807,075 I129N probably damaging Het
Scpep1 A T 11: 88,952,477 F52I probably damaging Het
Six2 A T 17: 85,687,891 L21Q probably damaging Het
Slit1 G T 19: 41,602,255 T1326K possibly damaging Het
Spata2l T C 8: 123,233,977 D191G possibly damaging Het
Susd4 C A 1: 182,891,987 A389D probably damaging Het
Tcaf2 A T 6: 42,624,576 F850I probably damaging Het
Teddm1b T C 1: 153,874,645 S67P probably damaging Het
Tiparp T A 3: 65,532,109 V100D probably damaging Het
Zdhhc14 A G 17: 5,752,792 H390R probably benign Het
Other mutations in Hs6st3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00973:Hs6st3 APN 14 119869407 missense possibly damaging 0.58
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