Incidental Mutation 'R5666:Hs2st1'
ID 444406
Institutional Source Beutler Lab
Gene Symbol Hs2st1
Ensembl Gene ENSMUSG00000040151
Gene Name heparan sulfate 2-O-sulfotransferase 1
Synonyms Hs2st
MMRRC Submission 043309-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.666) question?
Stock # R5666 (G1)
Quality Score 207
Status Not validated
Chromosome 3
Chromosomal Location 144135467-144275942 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 144275554 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Glutamic Acid at position 22 (V22E)
Ref Sequence ENSEMBL: ENSMUSP00000123816 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000043325] [ENSMUST00000082437] [ENSMUST00000106211] [ENSMUST00000160690]
AlphaFold Q8R3H7
Predicted Effect possibly damaging
Transcript: ENSMUST00000043325
AA Change: V22E

PolyPhen 2 Score 0.815 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000043066
Gene: ENSMUSG00000040151
AA Change: V22E

DomainStartEndE-ValueType
coiled coil region 21 58 N/A INTRINSIC
Pfam:Sulfotransfer_2 66 327 9.1e-44 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000082437
SMART Domains Protein: ENSMUSP00000046910
Gene: ENSMUSG00000037072

DomainStartEndE-ValueType
signal peptide 1 28 N/A INTRINSIC
low complexity region 44 55 N/A INTRINSIC
Pfam:Sep15_SelM 85 160 2.1e-32 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000106211
SMART Domains Protein: ENSMUSP00000101817
Gene: ENSMUSG00000037072

DomainStartEndE-ValueType
signal peptide 1 28 N/A INTRINSIC
low complexity region 44 55 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000144859
Predicted Effect probably damaging
Transcript: ENSMUST00000160690
AA Change: V22E

PolyPhen 2 Score 0.969 (Sensitivity: 0.77; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000123816
Gene: ENSMUSG00000040151
AA Change: V22E

DomainStartEndE-ValueType
low complexity region 14 27 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000198936
Predicted Effect noncoding transcript
Transcript: ENSMUST00000199680
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.8%
  • 10x: 97.5%
  • 20x: 95.8%
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: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930524J08Rik T C 5: 100,127,068 (GRCm39) probably benign Het
Abce1 C A 8: 80,416,906 (GRCm39) E368D probably benign Het
Becn2 C T 1: 175,749,179 (GRCm39) T415M probably damaging Het
Bmper T A 9: 23,384,759 (GRCm39) M588K probably damaging Het
Bop1 T C 15: 76,338,433 (GRCm39) E503G probably benign Het
Btla A T 16: 45,070,782 (GRCm39) D247V probably damaging Het
Cap2 T A 13: 46,684,559 (GRCm39) probably null Het
Chd2 A T 7: 73,091,465 (GRCm39) I1592K probably benign Het
Chd3 T C 11: 69,244,177 (GRCm39) E1202G possibly damaging Het
Cmya5 T C 13: 93,182,457 (GRCm39) I3568V possibly damaging Het
Col4a4 A G 1: 82,463,300 (GRCm39) probably null Het
Cpxm2 C T 7: 131,656,625 (GRCm39) E546K probably benign Het
Cyp2j5 C T 4: 96,546,930 (GRCm39) V195I probably benign Het
Ddb2 C T 2: 91,042,926 (GRCm39) V353M probably damaging Het
Dscam G A 16: 96,519,364 (GRCm39) T791I probably benign Het
Dtd2 T A 12: 52,046,643 (GRCm39) L65F probably damaging Het
E2f1 T A 2: 154,411,101 (GRCm39) probably benign Het
Ephb3 A G 16: 21,041,241 (GRCm39) N732S probably benign Het
Fkbp10 G T 11: 100,314,352 (GRCm39) W384L probably damaging Het
Foxm1 C T 6: 128,350,130 (GRCm39) S339L possibly damaging Het
Fzd6 A T 15: 38,894,510 (GRCm39) R225S probably benign Het
Gfpt1 A T 6: 87,030,795 (GRCm39) I60F possibly damaging Het
Glce A G 9: 61,967,793 (GRCm39) S453P probably damaging Het
Gm4787 G A 12: 81,424,805 (GRCm39) T451I probably benign Het
Hspa9 T C 18: 35,087,300 (GRCm39) I2V probably null Het
Ikzf2 A G 1: 69,617,059 (GRCm39) V96A probably benign Het
Ilkap T C 1: 91,318,863 (GRCm39) T38A probably benign Het
Lpin3 A G 2: 160,739,250 (GRCm39) T353A probably benign Het
Myh1 T A 11: 67,112,178 (GRCm39) I1744N probably benign Het
Nadsyn1 C T 7: 143,361,168 (GRCm39) G335S probably damaging Het
Ndc1 T C 4: 107,246,723 (GRCm39) V382A possibly damaging Het
Ndufaf4 A T 4: 24,898,636 (GRCm39) D64V probably damaging Het
Nfe2l2 T C 2: 75,507,462 (GRCm39) T213A probably benign Het
Nkain4 A G 2: 180,584,995 (GRCm39) L73P probably damaging Het
Nmt1 C T 11: 102,949,041 (GRCm39) R299* probably null Het
Or1j20 T A 2: 36,760,401 (GRCm39) D274E probably benign Het
Or2y8 A C 11: 52,035,525 (GRCm39) Y277* probably null Het
Or4b12 T C 2: 90,096,308 (GRCm39) I155M probably benign Het
Or5k1 G A 16: 58,617,424 (GRCm39) P262S possibly damaging Het
Padi2 G T 4: 140,676,542 (GRCm39) R560L possibly damaging Het
Palmd T C 3: 116,717,750 (GRCm39) N249S possibly damaging Het
Pde1c A C 6: 56,103,842 (GRCm39) probably null Het
Pdgfra T C 5: 75,334,156 (GRCm39) S410P probably benign Het
Phldb1 T C 9: 44,627,078 (GRCm39) M456V probably damaging Het
Pla2g2d T A 4: 138,507,591 (GRCm39) C82S probably damaging Het
Rgs21 A G 1: 144,412,680 (GRCm39) V48A probably benign Het
Rnd2 C T 11: 101,359,825 (GRCm39) L57F probably damaging Het
Slc4a2 G T 5: 24,639,836 (GRCm39) V506L probably damaging Het
Slc7a4 A G 16: 17,393,815 (GRCm39) probably benign Het
Sptbn5 C G 2: 119,916,048 (GRCm39) probably benign Het
Sstr2 T A 11: 113,515,539 (GRCm39) W153R probably damaging Het
Steap2 C T 5: 5,723,681 (GRCm39) V400I probably benign Het
Syne2 G A 12: 75,997,733 (GRCm39) G2236D probably benign Het
Tas2r130 T C 6: 131,607,342 (GRCm39) N151S possibly damaging Het
Tex52 T C 6: 128,352,518 (GRCm39) S13P probably benign Het
Tmprss13 A G 9: 45,256,253 (GRCm39) I456V probably damaging Het
Trim24 T C 6: 37,942,536 (GRCm39) F946S probably benign Het
Vmn2r10 A T 5: 109,146,910 (GRCm39) Y459* probably null Het
Vwa1 A G 4: 155,858,922 (GRCm39) L13P probably damaging Het
Zfp648 C A 1: 154,079,963 (GRCm39) Q41K 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
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
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
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'- TCTCTCAGTGAAGGGCCGAC -3'
(R):5'- TGAACACCACTGTACCGGAG -3'

Sequencing Primer
(F):5'- CGCGTGCAGCTCATCAG -3'
(R):5'- AGAAGCGTGCACCAGGC -3'
Posted On 2016-11-09