Incidental Mutation 'R5570:Hs6st1'
ID 435579
Institutional Source Beutler Lab
Gene Symbol Hs6st1
Ensembl Gene ENSMUSG00000045216
Gene Name heparan sulfate 6-O-sulfotransferase 1
Synonyms 6OST1
MMRRC Submission 043127-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.862) question?
Stock # R5570 (G1)
Quality Score 225
Status Not validated
Chromosome 1
Chromosomal Location 36107481-36145527 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 36142719 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Proline to Leucine at position 218 (P218L)
Ref Sequence ENSEMBL: ENSMUSP00000085499 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000088174]
AlphaFold Q9QYK5
Predicted Effect probably benign
Transcript: ENSMUST00000088174
AA Change: P218L

PolyPhen 2 Score 0.060 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000085499
Gene: ENSMUSG00000045216
AA Change: P218L

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000192656
Predicted Effect noncoding transcript
Transcript: ENSMUST00000194670
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.5%
  • 20x: 95.5%
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: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acrv1 C A 9: 36,605,577 (GRCm39) S41R probably damaging Het
Aqr G A 2: 113,979,451 (GRCm39) T328M probably damaging Het
Arhgap26 C A 18: 39,232,671 (GRCm39) D99E probably damaging Het
Boc G A 16: 44,313,187 (GRCm39) T559I probably damaging Het
Cadps A T 14: 12,473,497 (GRCm38) I876N possibly damaging Het
Cep72 T C 13: 74,188,260 (GRCm39) Q211R probably benign Het
Clmp T C 9: 40,683,826 (GRCm39) probably null Het
Coq6 T A 12: 84,415,413 (GRCm39) D145E probably benign Het
Crym T C 7: 119,801,116 (GRCm39) E11G probably benign Het
Defb36 T A 2: 152,454,503 (GRCm39) V54E probably damaging Het
Dlg5 C A 14: 24,242,981 (GRCm39) E55* probably null Het
Dock2 G T 11: 34,618,233 (GRCm39) R128S probably damaging Het
E330034G19Rik A G 14: 24,346,892 (GRCm39) K60E possibly damaging Het
Eps8l2 G A 7: 140,934,920 (GRCm39) R76Q possibly damaging Het
Espn T C 4: 152,208,237 (GRCm39) E460G probably damaging Het
Fbxl18 A G 5: 142,881,022 (GRCm39) probably benign Het
Fgd5 T C 6: 91,965,668 (GRCm39) S476P probably damaging Het
Gsto1 T C 19: 47,846,338 (GRCm39) W62R probably damaging Het
Gtf2h3 C T 5: 124,722,360 (GRCm39) T121I probably benign Het
Gxylt1 A G 15: 93,152,180 (GRCm39) probably null Het
Kif5c A G 2: 49,620,211 (GRCm39) D226G possibly damaging Het
Krt1 A G 15: 101,755,340 (GRCm39) F473S probably benign Het
Lpxn T A 19: 12,810,023 (GRCm39) M265K possibly damaging Het
Map3k9 A G 12: 81,778,798 (GRCm39) L505P possibly damaging Het
Mcm3ap C T 10: 76,316,930 (GRCm39) R645W possibly damaging Het
Msr1 T C 8: 40,064,760 (GRCm39) I305V probably benign Het
Muc4 A G 16: 32,598,066 (GRCm39) E3237G possibly damaging Het
Necap1 T C 6: 122,858,471 (GRCm39) F105L probably damaging Het
Nploc4 C T 11: 120,275,440 (GRCm39) V499M probably benign Het
Nup93 T C 8: 95,041,298 (GRCm39) V812A probably damaging Het
Or10ak7 T A 4: 118,791,263 (GRCm39) I259F possibly damaging Het
Or6e1 A G 14: 54,519,825 (GRCm39) F176L probably damaging Het
Or9g3 G A 2: 85,589,994 (GRCm39) S242F probably damaging Het
Parn G A 16: 13,483,794 (GRCm39) P50L probably damaging Het
Pcdhb7 T C 18: 37,477,224 (GRCm39) C787R probably benign Het
Pdk2 A T 11: 94,920,826 (GRCm39) I175N probably damaging Het
Pelo T C 13: 115,226,152 (GRCm39) I102V probably benign Het
Phf12 A G 11: 77,908,937 (GRCm39) D339G possibly damaging Het
Phlpp1 A T 1: 106,101,162 (GRCm39) I477F probably benign Het
Pigt T A 2: 164,343,482 (GRCm39) Y319* probably null Het
Pmpca A G 2: 26,280,553 (GRCm39) E133G probably damaging Het
Ptgs2 A G 1: 149,979,859 (GRCm39) I321M Het
Pus7l G A 15: 94,425,746 (GRCm39) P552S probably benign Het
Qsox2 A G 2: 26,115,230 (GRCm39) M1T probably null Het
Rara C G 11: 98,863,478 (GRCm39) R382G probably damaging Het
Rbbp6 A G 7: 122,601,057 (GRCm39) probably benign Het
Rev3l T C 10: 39,728,071 (GRCm39) probably null Het
Robo3 T A 9: 37,336,571 (GRCm39) Y399F possibly damaging Het
Rpl31 C T 1: 39,409,108 (GRCm39) R41C probably benign Het
Skint3 A G 4: 112,092,995 (GRCm39) M20V probably benign Het
Slc17a6 A G 7: 51,308,504 (GRCm39) D276G probably benign Het
Sult3a2 A T 10: 33,654,268 (GRCm39) V128D probably damaging Het
Syt3 T A 7: 44,040,043 (GRCm39) V92E possibly damaging Het
Them7 A G 2: 105,209,153 (GRCm39) T158A probably benign Het
Utp14b G A 1: 78,643,118 (GRCm39) D339N probably damaging Het
Vars1 T C 17: 35,235,214 (GRCm39) F1259L probably benign Het
Vmn1r115 A C 7: 20,578,555 (GRCm39) V119G possibly damaging Het
Zc3h12a C T 4: 125,014,166 (GRCm39) R293H probably damaging Het
Zfp638 A T 6: 83,956,170 (GRCm39) E1592D probably damaging Het
Other mutations in Hs6st1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01590:Hs6st1 APN 1 36,142,785 (GRCm39) missense probably damaging 0.98
IGL01721:Hs6st1 APN 1 36,108,016 (GRCm39) missense probably damaging 1.00
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
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
Predicted Primers PCR Primer
(F):5'- AGAGCTGTAGTCACCACAGTG -3'
(R):5'- CCGCTCAAATAGGTACTGCG -3'

Sequencing Primer
(F):5'- TAGTCACCACAGTGGGTGCAG -3'
(R):5'- CAAATAGGTACTGCGTCTTGC -3'
Posted On 2016-10-24