Incidental Mutation 'IGL01721:Hs6st1'
ID105118
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Hs6st1
Ensembl Gene ENSMUSG00000045216
Gene Nameheparan sulfate 6-O-sulfotransferase 1
Synonyms6OST1
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.850) question?
Stock #IGL01721
Quality Score
Status
Chromosome1
Chromosomal Location36068400-36106446 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 36068935 bp
ZygosityHeterozygous
Amino Acid Change Histidine to Leucine at position 93 (H93L)
Ref Sequence ENSEMBL: ENSMUSP00000085499 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000088174]
Predicted Effect probably damaging
Transcript: ENSMUST00000088174
AA Change: H93L

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000085499
Gene: ENSMUSG00000045216
AA Change: H93L

DomainStartEndE-ValueType
transmembrane domain 20 37 N/A INTRINSIC
low complexity region 50 62 N/A INTRINSIC
Pfam:Sulfotransfer_2 79 351 2e-79 PFAM
coiled coil region 352 386 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.] The protein encoded by this gene is a member of the heparan sulfate biosynthetic enzyme family. Heparan sulfate biosynthetic enzymes are key components in generating a myriad of distinct heparan sulfate fine structures that carry out multiple biological activities. This enzyme is a type II integral membrane protein and is responsible for 6-O-sulfation of heparan sulfate. This enzyme does not share significant sequence similarity with other known sulfotransferases. A pseudogene located on chromosome 1 has been found for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a null allele show prenatal loss, stunted growth, dilated alveoli and lower postweaning survival. Homozygotes for another null allele show additional defects in placenta, eye, phalanx and tarsus morphology. Homozygotes for a gene trapallele show altered retinal axon guidance. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700088E04Rik T C 15: 79,139,253 M51V possibly damaging Het
Acad8 A G 9: 26,992,267 probably benign Het
Atp2a2 A G 5: 122,500,792 V53A possibly damaging Het
Bicra T C 7: 15,988,699 T298A probably benign Het
Ccdc185 C T 1: 182,748,978 E49K possibly damaging Het
Cfhr2 A G 1: 139,813,614 S208P probably benign Het
Chd1 T C 17: 15,770,168 Y1661H probably damaging Het
Cntnap5a A G 1: 116,157,637 H435R probably benign Het
Cog8 A G 8: 107,054,065 V187A probably benign Het
Col24a1 A G 3: 145,538,567 H1532R probably benign Het
Dpp6 A G 5: 27,631,520 Y336C probably damaging Het
Drosha T A 15: 12,846,112 Y444* probably null Het
Egf A T 3: 129,697,722 C374* probably null Het
Eif2b3 C T 4: 117,058,804 H203Y probably damaging Het
Erbb4 A G 1: 68,254,563 V723A possibly damaging Het
Fbxo21 T C 5: 117,988,790 I202T probably benign Het
Gbp6 T C 5: 105,274,207 M544V probably benign Het
Gm10750 T C 2: 149,016,044 T96A unknown Het
Gm1840 A T 8: 5,639,896 noncoding transcript Het
Gm8232 A T 14: 44,437,183 probably null Het
Gsdma3 T C 11: 98,637,956 V412A possibly damaging Het
Hsf2 G A 10: 57,496,181 E77K probably benign Het
Ing3 T A 6: 21,968,880 probably benign Het
Ints6 T C 14: 62,713,739 I280M probably damaging Het
Kazn C A 4: 142,159,043 probably null Het
Klhl20 T C 1: 161,095,587 Y13C probably damaging Het
Krtap26-1 G A 16: 88,647,172 P187L probably damaging Het
Mga T A 2: 119,935,239 I1329K probably damaging Het
Mindy4 A G 6: 55,223,999 D223G probably damaging Het
Ncor2 T C 5: 125,050,937 E124G probably damaging Het
Nfat5 G A 8: 107,344,979 probably null Het
Nkain1 A G 4: 130,532,134 F184L probably benign Het
Olfr1061 T C 2: 86,413,333 T240A probably damaging Het
Rars A T 11: 35,828,664 F110L probably damaging Het
Rfx6 A C 10: 51,723,077 K509N probably damaging Het
Serpinb2 T C 1: 107,515,603 L44P probably damaging Het
Sin3a G A 9: 57,095,325 R167Q probably damaging Het
Sos2 T A 12: 69,603,867 T809S probably damaging Het
Stard9 A G 2: 120,703,330 E3356G probably damaging Het
Vmn1r52 A G 6: 90,178,923 T70A probably benign Het
Other mutations in Hs6st1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01590:Hs6st1 APN 1 36103704 missense probably damaging 0.98
IGL02123:Hs6st1 APN 1 36103871 missense possibly damaging 0.84
IGL02498:Hs6st1 APN 1 36103740 missense probably damaging 1.00
IGL02662:Hs6st1 APN 1 36103812 nonsense probably null
IGL02730:Hs6st1 APN 1 36103628 missense probably damaging 1.00
R0359:Hs6st1 UTSW 1 36069185 critical splice donor site probably null
R0360:Hs6st1 UTSW 1 36069185 critical splice donor site probably null
R1268:Hs6st1 UTSW 1 36068926 missense probably damaging 1.00
R1355:Hs6st1 UTSW 1 36103576 missense probably damaging 1.00
R1521:Hs6st1 UTSW 1 36068886 missense probably damaging 0.99
R1942:Hs6st1 UTSW 1 36068722 missense probably benign
R2364:Hs6st1 UTSW 1 36068719 missense probably benign 0.05
R4418:Hs6st1 UTSW 1 36104027 missense probably damaging 1.00
R4570:Hs6st1 UTSW 1 36103547 missense possibly damaging 0.84
R5319:Hs6st1 UTSW 1 36104178 missense probably benign 0.01
R5370:Hs6st1 UTSW 1 36069081 missense probably damaging 0.99
R5567:Hs6st1 UTSW 1 36103638 missense probably benign 0.06
R5570:Hs6st1 UTSW 1 36103638 missense probably benign 0.06
R5668:Hs6st1 UTSW 1 36103889 missense probably damaging 0.98
R6966:Hs6st1 UTSW 1 36104218 nonsense probably null
Posted On2014-01-21