Incidental Mutation 'IGL02498:Hs6st1'
ID 295885
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 # IGL02498
Quality Score
Status
Chromosome 1
Chromosomal Location 36107481-36145527 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 36142821 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Histidine at position 252 (R252H)
Ref Sequence ENSEMBL: ENSMUSP00000085499 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000088174]
AlphaFold Q9QYK5
Predicted Effect probably damaging
Transcript: ENSMUST00000088174
AA Change: R252H

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000085499
Gene: ENSMUSG00000045216
AA Change: R252H

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
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: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A930011G23Rik A G 5: 99,377,236 (GRCm39) S404P probably damaging Het
A930011G23Rik G A 5: 99,377,241 (GRCm39) P402L probably damaging Het
Abcc9 A T 6: 142,617,265 (GRCm39) probably null Het
Abcg8 T C 17: 84,990,693 (GRCm39) W12R probably benign Het
Ablim1 A T 19: 57,140,751 (GRCm39) C155* probably null Het
Adam33 A G 2: 130,895,157 (GRCm39) C658R probably damaging Het
Adamts2 A G 11: 50,664,135 (GRCm39) H357R possibly damaging Het
Adamts2 G T 11: 50,668,023 (GRCm39) K528N probably damaging Het
Arhgef12 G A 9: 42,893,339 (GRCm39) P955S probably benign Het
Atp2b2 T A 6: 113,770,815 (GRCm39) I365F probably damaging Het
AW112010 T C 19: 11,025,701 (GRCm39) noncoding transcript Het
AY358078 T C 14: 52,040,944 (GRCm39) S88P probably benign Het
Cdc42bpg T C 19: 6,372,823 (GRCm39) L1504S probably benign Het
Cracdl T C 1: 37,662,926 (GRCm39) T991A probably benign Het
Dgkg T A 16: 22,367,441 (GRCm39) H593L probably damaging Het
Gm10463 T C 5: 32,288,742 (GRCm39) probably benign Het
Grm1 A T 10: 10,595,723 (GRCm39) L635Q probably damaging Het
Herc4 T C 10: 63,109,244 (GRCm39) C160R probably benign Het
Litaf A G 16: 10,784,423 (GRCm39) V29A possibly damaging Het
Lmo7 G A 14: 102,044,918 (GRCm39) V57I probably benign Het
Loxl4 A T 19: 42,593,412 (GRCm39) L253Q probably benign Het
Mon2 C T 10: 122,870,235 (GRCm39) V458I probably benign Het
Ncstn G T 1: 171,896,159 (GRCm39) F506L probably benign Het
Nedd8 T A 14: 55,901,273 (GRCm39) D21V probably damaging Het
Oas1c T C 5: 120,943,591 (GRCm39) T183A possibly damaging Het
Pcsk5 A T 19: 17,488,920 (GRCm39) Y967N probably damaging Het
Phf2 A G 13: 48,958,715 (GRCm39) S936P unknown Het
Pkd1 T C 17: 24,804,753 (GRCm39) I3159T possibly damaging Het
Prrt3 C A 6: 113,474,788 (GRCm39) V145F possibly damaging Het
Prx T A 7: 27,217,497 (GRCm39) V666E probably damaging Het
Rapgef2 C T 3: 78,974,060 (GRCm39) V1577M probably damaging Het
Sesn3 T C 9: 14,217,564 (GRCm39) probably benign Het
Shoc2 T A 19: 54,016,207 (GRCm39) L407* probably null Het
Slc6a12 A G 6: 121,338,029 (GRCm39) M435V probably benign Het
Smarcc1 C T 9: 110,020,002 (GRCm39) T623I probably damaging Het
Snx14 A G 9: 88,289,517 (GRCm39) L245S probably damaging Het
Son T A 16: 91,453,713 (GRCm39) M820K probably damaging Het
Sorcs1 T C 19: 50,666,606 (GRCm39) T101A probably benign Het
Stoml2 C A 4: 43,031,045 (GRCm39) V37L probably benign Het
Syde2 T A 3: 145,704,444 (GRCm39) H465Q probably benign Het
Tmem164 T A X: 141,589,044 (GRCm39) V40D possibly damaging Het
Trim37 A G 11: 87,075,876 (GRCm39) E494G probably benign Het
Triobp A G 15: 78,845,243 (GRCm39) D195G probably benign Het
Unc79 G A 12: 103,137,837 (GRCm39) V2427M probably damaging Het
Usp27x T C X: 7,239,780 (GRCm39) probably benign Het
Vmn2r113 T A 17: 23,177,349 (GRCm39) V711D probably damaging Het
Zfp940 T C 7: 29,546,376 (GRCm39) T7A 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
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 2015-04-16