Incidental Mutation 'R3928:Hs2st1'
ID 308359
Institutional Source Beutler Lab
Gene Symbol Hs2st1
Ensembl Gene ENSMUSG00000040151
Gene Name heparan sulfate 2-O-sulfotransferase 1
Synonyms Hs2st
MMRRC Submission 040823-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.688) question?
Stock # R3928 (G1)
Quality Score 225
Status Validated
Chromosome 3
Chromosomal Location 144135467-144275942 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 144140389 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Glutamic Acid at position 311 (K311E)
Ref Sequence ENSEMBL: ENSMUSP00000043066 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000043325]
AlphaFold Q8R3H7
Predicted Effect possibly damaging
Transcript: ENSMUST00000043325
AA Change: K311E

PolyPhen 2 Score 0.554 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000043066
Gene: ENSMUSG00000040151
AA Change: K311E

DomainStartEndE-ValueType
coiled coil region 21 58 N/A INTRINSIC
Pfam:Sulfotransfer_2 66 327 9.1e-44 PFAM
Meta Mutation Damage Score 0.1467 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.6%
Validation Efficiency 100% (48/48)
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: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abr A T 11: 76,359,561 (GRCm39) H181Q probably benign Het
Atrx T C X: 104,923,523 (GRCm39) I157V possibly damaging Het
Birc6 A G 17: 74,918,170 (GRCm39) D1856G possibly damaging Het
Birc6 A G 17: 74,945,404 (GRCm39) T2811A probably damaging Het
Brsk2 T C 7: 141,552,155 (GRCm39) F108S probably damaging Het
Clasp2 C A 9: 113,735,173 (GRCm39) H1004N probably benign Het
Cntd1 G A 11: 101,178,345 (GRCm39) V315I probably benign Het
Col13a1 A G 10: 61,703,304 (GRCm39) probably benign Het
Ctps1 T A 4: 120,399,093 (GRCm39) H553L probably benign Het
Dpysl2 A G 14: 67,061,880 (GRCm39) I242T possibly damaging Het
Exoc3l C T 8: 106,017,549 (GRCm39) probably benign Het
Fam229a A G 4: 129,385,204 (GRCm39) probably benign Het
Fshr C T 17: 89,292,962 (GRCm39) R572H probably damaging Het
Gm5501 A G 18: 9,917,267 (GRCm39) noncoding transcript Het
Gmpr A G 13: 45,683,223 (GRCm39) I165V probably benign Het
Gnat3 G A 5: 18,208,892 (GRCm39) probably benign Het
H1f8 A G 6: 115,925,757 (GRCm39) K185E probably benign Het
H2-Q4 T G 17: 35,598,666 (GRCm39) L16R unknown Het
Kcnj15 A G 16: 95,097,368 (GRCm39) E330G possibly damaging Het
Kif3a A G 11: 53,461,441 (GRCm39) K29E probably benign Het
Krtap4-1 A G 11: 99,518,983 (GRCm39) V9A unknown Het
Lmntd2 C T 7: 140,791,117 (GRCm39) G432S probably damaging Het
Me3 T C 7: 89,482,898 (GRCm39) probably benign Het
Myo1d G T 11: 80,375,087 (GRCm39) R996S probably benign Het
Myo9a T A 9: 59,802,566 (GRCm39) W2018R probably damaging Het
Nphp3 G T 9: 103,888,929 (GRCm39) V265F probably damaging Het
Or10ak9 T C 4: 118,726,179 (GRCm39) L66P probably damaging Het
Or5p67 A G 7: 107,922,232 (GRCm39) I217T probably benign Het
Or8c16 T C 9: 38,130,131 (GRCm39) M1T probably null Het
Pgp A G 17: 24,690,315 (GRCm39) E247G probably damaging Het
Pirb A T 7: 3,720,637 (GRCm39) L287Q probably benign Het
Plch1 G A 3: 63,675,044 (GRCm39) A202V probably damaging Het
Rbm11 G A 16: 75,389,932 (GRCm39) probably null Het
Scg5 T C 2: 113,622,230 (GRCm39) K124R probably damaging Het
Serpina3j A T 12: 104,285,916 (GRCm39) H357L probably damaging Het
St6gal2 A G 17: 55,803,324 (GRCm39) D353G possibly damaging Het
Tdpoz3 T C 3: 93,734,216 (GRCm39) I297T possibly damaging Het
Tdrd5 G A 1: 156,128,348 (GRCm39) T136I probably benign Het
Tfcp2l1 T A 1: 118,597,206 (GRCm39) I429K possibly damaging Het
Tnrc6c C T 11: 117,614,355 (GRCm39) R838W probably damaging Het
Top1 T C 2: 160,529,669 (GRCm39) probably benign Het
Trim61 A G 8: 65,465,969 (GRCm39) F431L probably benign Het
Trmo C T 4: 46,382,647 (GRCm39) G150S probably damaging Het
Vmn1r183 T C 7: 23,754,997 (GRCm39) S267P probably damaging Het
Xirp2 T A 2: 67,342,013 (GRCm39) F1418Y possibly damaging Het
Zfp114 T C 7: 23,880,467 (GRCm39) V271A possibly damaging Het
Zfp710 A G 7: 79,731,134 (GRCm39) R104G probably damaging 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
R1505:Hs2st1 UTSW 3 144,140,322 (GRCm39) missense probably benign 0.19
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
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'- TGACACAGTCAAGTTCCGGG -3'
(R):5'- TAGGGTAATGTGTTACTTGCCC -3'

Sequencing Primer
(F):5'- TCAAGTTCCGGGGCAGGAG -3'
(R):5'- GGGTAATGTGTTACTTGCCCTTCAC -3'
Posted On 2015-04-17