Incidental Mutation 'R1505:Hs2st1'
ID 169103
Institutional Source Beutler Lab
Gene Symbol Hs2st1
Ensembl Gene ENSMUSG00000040151
Gene Name heparan sulfate 2-O-sulfotransferase 1
Synonyms Hs2st
MMRRC Submission 040868-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.688) question?
Stock # R1505 (G1)
Quality Score 225
Status Not validated
Chromosome 3
Chromosomal Location 144135467-144275942 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 144140322 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Leucine at position 333 (R333L)
Ref Sequence ENSEMBL: ENSMUSP00000043066 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000043325]
AlphaFold Q8R3H7
Predicted Effect probably benign
Transcript: ENSMUST00000043325
AA Change: R333L

PolyPhen 2 Score 0.195 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000043066
Gene: ENSMUSG00000040151
AA Change: R333L

DomainStartEndE-ValueType
coiled coil region 21 58 N/A INTRINSIC
Pfam:Sulfotransfer_2 66 327 9.1e-44 PFAM
Coding Region Coverage
  • 1x: 98.9%
  • 3x: 97.8%
  • 10x: 94.5%
  • 20x: 86.3%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Heparan sulfate biosynthetic enzymes are key components in generating a myriad of distinct heparan sulfate fine structures that carry out multiple biologic activities. This gene encodes a member of the heparan sulfate biosynthetic enzyme family that transfers sulfate to the 2 position of the iduronic acid residue of heparan sulfate. The disruption of this gene resulted in no kidney formation in knockout embryonic mice, indicating that the absence of this enzyme may interfere with the signaling required for kidney formation. Two alternatively spliced transcript variants that encode different proteins have been found for this gene. [provided by RefSeq, Aug 2008]
PHENOTYPE: A mutation in this gene causes bilateral renal agenesis, bone defects, eye development abnormalities and cataracts in homozygous mice. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcg3 T A 5: 105,099,431 (GRCm39) R444W probably damaging Het
Adnp A G 2: 168,025,661 (GRCm39) S545P possibly damaging Het
Ankrd17 T C 5: 90,447,885 (GRCm39) R219G possibly damaging Het
Ap2m1 C G 16: 20,361,447 (GRCm39) P372A probably benign Het
Calml3 T A 13: 3,854,071 (GRCm39) T45S probably benign Het
Casp8 A G 1: 58,868,081 (GRCm39) E174G probably damaging Het
Ces4a G A 8: 105,864,729 (GRCm39) G69S probably damaging Het
Cfap221 A C 1: 119,881,358 (GRCm39) L368R probably benign Het
Chd9 A G 8: 91,733,123 (GRCm39) probably null Het
Cnot1 A T 8: 96,455,295 (GRCm39) I2035N probably damaging Het
Cyp2c67 T C 19: 39,637,408 (GRCm39) R23G probably benign Het
Dnah10 A C 5: 124,831,303 (GRCm39) H777P possibly damaging Het
Fabp3 C T 4: 130,206,180 (GRCm39) T57I probably benign Het
Fam162b G A 10: 51,463,298 (GRCm39) A123V probably damaging Het
Golgb1 T A 16: 36,740,005 (GRCm39) N2781K possibly damaging Het
Kmt2e A G 5: 23,705,533 (GRCm39) H1319R probably null Het
Necab1 A T 4: 14,960,047 (GRCm39) M300K probably benign Het
Ntrk3 T A 7: 78,110,272 (GRCm39) I321F probably damaging Het
Or5p60 A G 7: 107,724,200 (GRCm39) V90A probably benign Het
Or7e169 A T 9: 19,757,084 (GRCm39) M277K probably benign Het
Or8g52 A G 9: 39,630,774 (GRCm39) N84D probably damaging Het
Or8k41 A T 2: 86,313,557 (GRCm39) H176Q possibly damaging Het
Osbpl6 T C 2: 76,409,586 (GRCm39) S483P probably damaging Het
Pcdhb17 A C 18: 37,619,875 (GRCm39) N555T probably damaging Het
Pdgfc G A 3: 81,116,543 (GRCm39) R299H possibly damaging Het
Ptpn7 A T 1: 135,062,302 (GRCm39) T83S probably benign Het
Rapgef5 T C 12: 117,652,354 (GRCm39) V79A possibly damaging Het
Rexo5 T A 7: 119,398,826 (GRCm39) C54* probably null Het
Riok3 A G 18: 12,285,935 (GRCm39) K418R probably benign Het
Robo4 G A 9: 37,314,523 (GRCm39) G170D probably damaging Het
Rpl8 A G 15: 76,788,610 (GRCm39) D33G possibly damaging Het
Rspo2 T C 15: 42,939,239 (GRCm39) T184A probably damaging Het
Ryr2 A T 13: 11,569,478 (GRCm39) M4942K possibly damaging Het
Sel1l T C 12: 91,780,736 (GRCm39) Y585C probably damaging Het
Slc25a11 G T 11: 70,537,650 (GRCm39) D13E probably benign Het
Slc5a6 G T 5: 31,194,455 (GRCm39) H584N probably benign Het
Snrpf A G 10: 93,419,381 (GRCm39) V69A possibly damaging Het
Sorbs3 T A 14: 70,428,251 (GRCm39) K475* probably null Het
Speg G A 1: 75,352,186 (GRCm39) V35I probably benign Het
Tlk2 T G 11: 105,151,121 (GRCm39) V468G probably damaging Het
Trim6 T A 7: 103,881,771 (GRCm39) W341R probably damaging Het
Ttll5 T A 12: 85,926,184 (GRCm39) I326N probably damaging Het
Vipas39 T C 12: 87,292,934 (GRCm39) Y318C probably damaging Het
Vmn1r185 T A 7: 26,310,903 (GRCm39) I201F probably damaging Het
Vwce A G 19: 10,641,608 (GRCm39) H778R probably benign Het
Zbtb14 C G 17: 69,694,759 (GRCm39) I152M probably benign Het
Other mutations in Hs2st1
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0037:Hs2st1 UTSW 3 144,143,405 (GRCm39) nonsense probably null
R1215:Hs2st1 UTSW 3 144,170,902 (GRCm39) missense possibly damaging 0.75
R1450:Hs2st1 UTSW 3 144,140,479 (GRCm39) splice site probably benign
R1474:Hs2st1 UTSW 3 144,141,256 (GRCm39) missense possibly damaging 0.94
R1695:Hs2st1 UTSW 3 144,140,415 (GRCm39) missense probably benign 0.00
R2511:Hs2st1 UTSW 3 144,275,691 (GRCm39) unclassified probably benign
R2967:Hs2st1 UTSW 3 144,170,899 (GRCm39) missense probably damaging 1.00
R3928:Hs2st1 UTSW 3 144,140,389 (GRCm39) missense possibly damaging 0.55
R4895:Hs2st1 UTSW 3 144,171,014 (GRCm39) missense probably benign
R4911:Hs2st1 UTSW 3 144,170,843 (GRCm39) missense probably benign 0.23
R5477:Hs2st1 UTSW 3 144,262,709 (GRCm39) critical splice donor site probably benign
R5666:Hs2st1 UTSW 3 144,275,554 (GRCm39) missense probably damaging 0.97
R6262:Hs2st1 UTSW 3 144,140,374 (GRCm39) missense probably damaging 0.96
R7230:Hs2st1 UTSW 3 144,140,307 (GRCm39) missense probably benign
R7372:Hs2st1 UTSW 3 144,141,221 (GRCm39) critical splice donor site probably null
R7492:Hs2st1 UTSW 3 144,141,357 (GRCm39) missense probably benign 0.01
R7720:Hs2st1 UTSW 3 144,159,783 (GRCm39) missense probably damaging 1.00
R8309:Hs2st1 UTSW 3 144,143,365 (GRCm39) missense possibly damaging 0.74
R8497:Hs2st1 UTSW 3 144,140,452 (GRCm39) missense probably damaging 1.00
X0019:Hs2st1 UTSW 3 144,159,773 (GRCm39) missense probably benign 0.04
Predicted Primers PCR Primer
(F):5'- GCAATGTAAGTCCCCATGTCCCTG -3'
(R):5'- ACCTTGTAATGGTGCTGCCTCG -3'

Sequencing Primer
(F):5'- ATGTCCCTGCACCAGGAG -3'
(R):5'- CCACTTCTTCAAGTAAAGAGGC -3'
Posted On 2014-04-13