Incidental Mutation 'IGL01721:Hs6st1'
ID 105118
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Hs6st1
Ensembl Gene ENSMUSG00000045216
Gene Name heparan sulfate 6-O-sulfotransferase 1
Synonyms 6OST1
Accession Numbers
Essential gene? Probably essential (E-score: 0.862) question?
Stock # IGL01721
Quality Score
Status
Chromosome 1
Chromosomal Location 36107481-36145527 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 36108016 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Leucine at position 93 (H93L)
Ref Sequence ENSEMBL: ENSMUSP00000085499 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000088174]
AlphaFold Q9QYK5
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: 79,023,453 (GRCm39) M51V possibly damaging Het
Acad8 A G 9: 26,903,563 (GRCm39) probably benign Het
Atp2a2 A G 5: 122,638,855 (GRCm39) V53A possibly damaging Het
Bicra T C 7: 15,722,624 (GRCm39) T298A probably benign Het
Ccdc185 C T 1: 182,576,543 (GRCm39) E49K possibly damaging Het
Cfhr2 A G 1: 139,741,352 (GRCm39) S208P probably benign Het
Chd1 T C 17: 15,990,430 (GRCm39) Y1661H probably damaging Het
Cntnap5a A G 1: 116,085,367 (GRCm39) H435R probably benign Het
Cog8 A G 8: 107,780,697 (GRCm39) V187A probably benign Het
Col24a1 A G 3: 145,244,322 (GRCm39) H1532R probably benign Het
Dpp6 A G 5: 27,836,518 (GRCm39) Y336C probably damaging Het
Drosha T A 15: 12,846,198 (GRCm39) Y444* probably null Het
Egf A T 3: 129,491,371 (GRCm39) C374* probably null Het
Eif2b3 C T 4: 116,916,001 (GRCm39) H203Y probably damaging Het
Erbb4 A G 1: 68,293,722 (GRCm39) V723A possibly damaging Het
Fbxo21 T C 5: 118,126,855 (GRCm39) I202T probably benign Het
Gbp6 T C 5: 105,422,073 (GRCm39) M544V probably benign Het
Gm10750 T C 2: 148,857,964 (GRCm39) T96A unknown Het
Gm8232 A T 14: 44,674,640 (GRCm39) probably null Het
Gpi-ps A T 8: 5,689,896 (GRCm39) noncoding transcript Het
Gsdma3 T C 11: 98,528,782 (GRCm39) V412A possibly damaging Het
Hsf2 G A 10: 57,372,277 (GRCm39) E77K probably benign Het
Ing3 T A 6: 21,968,879 (GRCm39) probably benign Het
Ints6 T C 14: 62,951,188 (GRCm39) I280M probably damaging Het
Kazn C A 4: 141,886,354 (GRCm39) probably null Het
Klhl20 T C 1: 160,923,157 (GRCm39) Y13C probably damaging Het
Krtap26-1 G A 16: 88,444,060 (GRCm39) P187L probably damaging Het
Mga T A 2: 119,765,720 (GRCm39) I1329K probably damaging Het
Mindy4 A G 6: 55,200,984 (GRCm39) D223G probably damaging Het
Ncor2 T C 5: 125,128,001 (GRCm39) E124G probably damaging Het
Nfat5 G A 8: 108,071,611 (GRCm39) probably null Het
Nkain1 A G 4: 130,532,134 (GRCm38) F184L probably benign Het
Or8k25 T C 2: 86,243,677 (GRCm39) T240A probably damaging Het
Rars1 A T 11: 35,719,491 (GRCm39) F110L probably damaging Het
Rfx6 A C 10: 51,599,173 (GRCm39) K509N probably damaging Het
Serpinb2 T C 1: 107,443,333 (GRCm39) L44P probably damaging Het
Sin3a G A 9: 57,002,609 (GRCm39) R167Q probably damaging Het
Sos2 T A 12: 69,650,641 (GRCm39) T809S probably damaging Het
Stard9 A G 2: 120,533,811 (GRCm39) E3356G probably damaging Het
Vmn1r52 A G 6: 90,155,905 (GRCm39) T70A probably benign Het
Other mutations in Hs6st1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01590:Hs6st1 APN 1 36,142,785 (GRCm39) missense probably damaging 0.98
IGL02123:Hs6st1 APN 1 36,142,952 (GRCm39) missense possibly damaging 0.84
IGL02498:Hs6st1 APN 1 36,142,821 (GRCm39) missense probably damaging 1.00
IGL02662:Hs6st1 APN 1 36,142,893 (GRCm39) nonsense probably null
IGL02730:Hs6st1 APN 1 36,142,709 (GRCm39) missense probably damaging 1.00
R0359:Hs6st1 UTSW 1 36,108,266 (GRCm39) critical splice donor site probably null
R0360:Hs6st1 UTSW 1 36,108,266 (GRCm39) critical splice donor site probably null
R1268:Hs6st1 UTSW 1 36,108,007 (GRCm39) missense probably damaging 1.00
R1355:Hs6st1 UTSW 1 36,142,657 (GRCm39) missense probably damaging 1.00
R1521:Hs6st1 UTSW 1 36,107,967 (GRCm39) missense probably damaging 0.99
R1942:Hs6st1 UTSW 1 36,107,803 (GRCm39) missense probably benign
R2364:Hs6st1 UTSW 1 36,107,800 (GRCm39) missense probably benign 0.05
R4418:Hs6st1 UTSW 1 36,143,108 (GRCm39) missense probably damaging 1.00
R4570:Hs6st1 UTSW 1 36,142,628 (GRCm39) missense possibly damaging 0.84
R5319:Hs6st1 UTSW 1 36,143,259 (GRCm39) missense probably benign 0.01
R5370:Hs6st1 UTSW 1 36,108,162 (GRCm39) missense probably damaging 0.99
R5567:Hs6st1 UTSW 1 36,142,719 (GRCm39) missense probably benign 0.06
R5570:Hs6st1 UTSW 1 36,142,719 (GRCm39) missense probably benign 0.06
R5668:Hs6st1 UTSW 1 36,142,970 (GRCm39) missense probably damaging 0.98
R6966:Hs6st1 UTSW 1 36,143,299 (GRCm39) nonsense probably null
R8129:Hs6st1 UTSW 1 36,108,105 (GRCm39) missense probably damaging 1.00
R8351:Hs6st1 UTSW 1 36,108,141 (GRCm39) missense probably damaging 1.00
R8451:Hs6st1 UTSW 1 36,108,141 (GRCm39) missense probably damaging 1.00
Posted On 2014-01-21