Incidental Mutation 'R4611:Ndst3'
ID 344691
Institutional Source Beutler Lab
Gene Symbol Ndst3
Ensembl Gene ENSMUSG00000027977
Gene Name N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 3
Synonyms 4930511P15Rik, 4921531K01Rik
MMRRC Submission 041822-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.248) question?
Stock # R4611 (G1)
Quality Score 225
Status Not validated
Chromosome 3
Chromosomal Location 123319815-123484502 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 123465198 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 258 (I258T)
Ref Sequence ENSEMBL: ENSMUSP00000133657 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029602] [ENSMUST00000137404] [ENSMUST00000154668] [ENSMUST00000172537]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000029602
AA Change: I258T

PolyPhen 2 Score 0.354 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000029602
Gene: ENSMUSG00000027977
AA Change: I258T

DomainStartEndE-ValueType
Pfam:HSNSD 19 506 4.6e-272 PFAM
Pfam:Sulfotransfer_1 595 858 8.4e-44 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000137404
AA Change: I258T

PolyPhen 2 Score 0.334 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000118796
Gene: ENSMUSG00000027977
AA Change: I258T

DomainStartEndE-ValueType
Pfam:HSNSD 19 506 6.4e-272 PFAM
PDB:1NST|A 549 637 2e-38 PDB
SCOP:d1nsta_ 570 641 9e-17 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000154668
AA Change: I258T

PolyPhen 2 Score 0.354 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000118207
Gene: ENSMUSG00000027977
AA Change: I258T

DomainStartEndE-ValueType
Pfam:HSNSD 20 506 1.7e-253 PFAM
Pfam:Sulfotransfer_1 595 858 8.4e-44 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000172537
AA Change: I258T

PolyPhen 2 Score 0.354 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000133657
Gene: ENSMUSG00000027977
AA Change: I258T

DomainStartEndE-ValueType
Pfam:HSNSD 20 328 2.4e-130 PFAM
Pfam:HSNSD 326 425 8.2e-62 PFAM
PDB:1NST|A 468 556 7e-39 PDB
SCOP:d1nsta_ 489 560 5e-17 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000199046
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 95.1%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the heparan sulfate/heparin GlcNAc N-deacetylase/ N-sulfotransferase family. The encoded enzyme is a type II transmembrane protein that resides in the Golgi apparatus. This monomeric bifunctional enzyme catalyzes the N-deacetylation and N-sulfation of N-acetylglucosamine residues in heparan sulfate and heparin, which are the initial chemical modifications required for the biosynthesis of the functional oligosaccharide sequences that define the specific ligand binding activities of heparan sulfate and heparin. [provided by RefSeq, Nov 2008]
PHENOTYPE: Mice homozygous for a knockout allele exhibit decreased anxiety-related behavior, cholesterol levels and CD8+ T cells due to moderate heparan-sulfate undersulfation. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 100 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930522L14Rik G A 5: 109,885,259 (GRCm39) R200C probably benign Het
Ak7 G A 12: 105,679,834 (GRCm39) V123M probably benign Het
Aoc1l1 A T 6: 48,952,090 (GRCm39) Q5L probably benign Het
Apc T C 18: 34,451,618 (GRCm39) L2804P probably damaging Het
Apob C A 12: 8,061,331 (GRCm39) A3271E probably damaging Het
Asl G T 5: 130,047,157 (GRCm39) A147E probably damaging Het
Atp1a1 A G 3: 101,494,259 (GRCm39) V447A probably benign Het
AY358078 T A 14: 52,063,532 (GRCm39) C393S possibly damaging Het
Bcl11b T C 12: 107,882,789 (GRCm39) K509E probably damaging Het
Btnl1 T C 17: 34,598,699 (GRCm39) I105T probably damaging Het
Btnl10 A G 11: 58,811,183 (GRCm39) T169A probably damaging Het
C8b T C 4: 104,647,841 (GRCm39) I278T probably damaging Het
Ccdc66 T C 14: 27,222,377 (GRCm39) N122S probably damaging Het
Cd8b1 T C 6: 71,309,459 (GRCm39) V181A probably benign Het
Cdan1 A T 2: 120,561,201 (GRCm39) V189D probably damaging Het
Celf2 G T 2: 6,590,831 (GRCm39) N279K possibly damaging Het
Cfap52 T C 11: 67,817,247 (GRCm39) N549D probably damaging Het
Cmklr1 C T 5: 113,752,930 (GRCm39) V24M probably benign Het
Cntnap4 G T 8: 113,500,371 (GRCm39) probably null Het
Col27a1 G A 4: 63,211,743 (GRCm39) G91R probably damaging Het
Col5a3 A G 9: 20,726,192 (GRCm39) probably benign Het
Dcc C T 18: 71,682,069 (GRCm39) probably null Het
Deaf1 T A 7: 140,890,884 (GRCm39) T433S possibly damaging Het
Dnah8 T A 17: 30,903,211 (GRCm39) L950H probably damaging Het
Dnajc7 A T 11: 100,481,803 (GRCm39) Y228* probably null Het
Eno1b T C 18: 48,180,770 (GRCm39) V316A probably damaging Het
Exoc4 T C 6: 33,415,340 (GRCm39) M404T possibly damaging Het
Fignl1 A T 11: 11,751,268 (GRCm39) C596S probably benign Het
Fn1 A C 1: 71,663,337 (GRCm39) Y1050* probably null Het
Frem2 A G 3: 53,455,228 (GRCm39) L2116S possibly damaging Het
Gba2 T A 4: 43,568,092 (GRCm39) S732C probably damaging Het
Gcnt4 C A 13: 97,082,990 (GRCm39) S95R probably benign Het
Gpr37 A G 6: 25,669,623 (GRCm39) V407A probably benign Het
Gria2 A T 3: 80,599,799 (GRCm39) M695K probably damaging Het
Hoxa9 T C 6: 52,202,690 (GRCm39) K132R probably damaging Het
Ifi213 T A 1: 173,417,480 (GRCm39) T311S possibly damaging Het
Itgb2 T A 10: 77,385,884 (GRCm39) N282K probably damaging Het
Kcnh8 A T 17: 52,909,864 (GRCm39) Q11L probably benign Het
Klk14 T C 7: 43,343,781 (GRCm39) C163R probably damaging Het
Klk1b3 T A 7: 43,850,689 (GRCm39) W74R possibly damaging Het
Krtap13-1 G T 16: 88,526,142 (GRCm39) C122F possibly damaging Het
Luzp2 T C 7: 54,713,104 (GRCm39) probably null Het
Mbtps1 A T 8: 120,262,086 (GRCm39) D354E probably damaging Het
Mcpt9 C T 14: 56,266,049 (GRCm39) V60M probably damaging Het
Mical3 C A 6: 120,911,799 (GRCm39) E1083* probably null Het
Mrc2 G A 11: 105,239,257 (GRCm39) probably null Het
Mtor T A 4: 148,570,576 (GRCm39) V1211E probably benign Het
Myb T A 10: 21,021,223 (GRCm39) D402V probably damaging Het
Ncor2 G A 5: 125,107,923 (GRCm39) T1593I probably damaging Het
Npy6r C A 18: 44,409,468 (GRCm39) H296Q probably damaging Het
Olfml2b T A 1: 170,472,516 (GRCm39) L9H probably damaging Het
Or10a3n A G 7: 108,493,324 (GRCm39) C97R probably damaging Het
Or1a1b A T 11: 74,097,361 (GRCm39) V227D possibly damaging Het
Or2w2 A T 13: 21,757,744 (GRCm39) V294D probably damaging Het
Or4k15 C A 14: 50,364,530 (GRCm39) N165K probably benign Het
Or5b119 C T 19: 13,457,376 (GRCm39) C62Y probably damaging Het
Or5b94 T A 19: 12,652,318 (GRCm39) Y250N probably damaging Het
Or6c207 G A 10: 129,104,274 (GRCm39) A306V probably benign Het
Or8b8 T A 9: 37,809,622 (GRCm39) S307R probably benign Het
Ovgp1 T C 3: 105,893,883 (GRCm39) probably benign Het
Parg G A 14: 31,996,821 (GRCm39) R304Q probably damaging Het
Pdf T G 8: 107,775,167 (GRCm39) S22R probably benign Het
Phlpp2 A T 8: 110,603,515 (GRCm39) R60S possibly damaging Het
Piwil2 C T 14: 70,639,646 (GRCm39) E401K probably benign Het
Pla2g4e T G 2: 120,016,863 (GRCm39) H226P possibly damaging Het
Polr3a T C 14: 24,502,576 (GRCm39) probably null Het
Ppp3cb T C 14: 20,570,714 (GRCm39) N339S possibly damaging Het
Ptch2 G A 4: 116,967,575 (GRCm39) D748N probably benign Het
Rai14 A C 15: 10,592,224 (GRCm39) Y224D probably damaging Het
Rft1 A G 14: 30,411,747 (GRCm39) I432V probably damaging Het
Rictor C T 15: 6,816,625 (GRCm39) A1299V possibly damaging Het
Sall2 A G 14: 52,551,210 (GRCm39) C662R probably damaging Het
Scn4b A G 9: 45,061,737 (GRCm39) N208D probably damaging Het
Sdhb G A 4: 140,700,226 (GRCm39) G109R probably damaging Het
Sec16a A G 2: 26,331,817 (GRCm39) V66A probably benign Het
Sema4g A G 19: 44,990,051 (GRCm39) Y710C probably damaging Het
Serpinb12 T A 1: 106,876,883 (GRCm39) D66E probably benign Het
Shc4 T A 2: 125,497,602 (GRCm39) D369V probably benign Het
Siglech T C 7: 55,421,441 (GRCm39) L285P probably damaging Het
Skint6 A G 4: 112,931,273 (GRCm39) M506T probably benign Het
Slco1a6 C A 6: 142,047,378 (GRCm39) C404F probably benign Het
Slfn14 T A 11: 83,174,140 (GRCm39) K284* probably null Het
Sox14 A G 9: 99,757,715 (GRCm39) I8T probably damaging Het
Srpk3 A G X: 72,818,547 (GRCm39) H79R possibly damaging Het
Tdpoz3 A T 3: 93,734,330 (GRCm39) H335L probably damaging Het
Tdrd5 T A 1: 156,111,944 (GRCm39) T479S probably benign Het
Tnik T C 3: 28,596,249 (GRCm39) probably null Het
Tnpo2 T C 8: 85,780,432 (GRCm39) S720P probably benign Het
Tpst1 A G 5: 130,130,547 (GRCm39) K6E probably damaging Het
Trank1 T A 9: 111,191,329 (GRCm39) I446N probably damaging Het
Trmt44 A T 5: 35,732,351 (GRCm39) D13E probably benign Het
Ubr4 T A 4: 139,126,890 (GRCm39) V471E possibly damaging Het
Ubtd1 A G 19: 42,022,030 (GRCm39) T101A probably benign Het
Ugt3a1 A T 15: 9,306,486 (GRCm39) K212* probably null Het
Zbtb7c C T 18: 76,269,918 (GRCm39) A2V possibly damaging Het
Zfp423 C T 8: 88,414,709 (GRCm39) G1182D possibly damaging Het
Zfp618 G A 4: 63,051,216 (GRCm39) V666M probably damaging Het
Zmat1 A T X: 133,873,694 (GRCm39) S566T probably damaging Homo
Zscan20 T C 4: 128,481,899 (GRCm39) T588A probably benign Het
Zscan25 G A 5: 145,227,926 (GRCm39) R530H probably damaging Het
Other mutations in Ndst3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00505:Ndst3 APN 3 123,421,599 (GRCm39) splice site probably benign
IGL00543:Ndst3 APN 3 123,465,912 (GRCm39) missense probably damaging 0.99
IGL01067:Ndst3 APN 3 123,340,466 (GRCm39) missense probably damaging 1.00
IGL01301:Ndst3 APN 3 123,342,565 (GRCm39) missense probably damaging 0.97
IGL01975:Ndst3 APN 3 123,395,163 (GRCm39) missense possibly damaging 0.67
IGL02376:Ndst3 APN 3 123,350,447 (GRCm39) missense probably damaging 0.98
IGL02715:Ndst3 APN 3 123,340,410 (GRCm39) splice site probably benign
IGL03111:Ndst3 APN 3 123,465,745 (GRCm39) missense possibly damaging 0.96
Jack_sprat UTSW 3 123,346,201 (GRCm39) missense probably damaging 0.99
ANU18:Ndst3 UTSW 3 123,342,565 (GRCm39) missense probably damaging 0.97
R0027:Ndst3 UTSW 3 123,465,162 (GRCm39) missense probably damaging 1.00
R0288:Ndst3 UTSW 3 123,465,843 (GRCm39) missense probably benign 0.03
R0630:Ndst3 UTSW 3 123,355,720 (GRCm39) missense probably damaging 0.98
R1168:Ndst3 UTSW 3 123,400,617 (GRCm39) missense probably benign 0.22
R1400:Ndst3 UTSW 3 123,350,477 (GRCm39) missense probably damaging 1.00
R1513:Ndst3 UTSW 3 123,395,104 (GRCm39) missense possibly damaging 0.75
R1524:Ndst3 UTSW 3 123,342,555 (GRCm39) missense possibly damaging 0.94
R1830:Ndst3 UTSW 3 123,342,587 (GRCm39) missense probably damaging 0.96
R1831:Ndst3 UTSW 3 123,395,127 (GRCm39) missense probably benign
R1865:Ndst3 UTSW 3 123,465,120 (GRCm39) missense probably damaging 1.00
R1871:Ndst3 UTSW 3 123,355,673 (GRCm39) missense probably damaging 1.00
R2041:Ndst3 UTSW 3 123,465,864 (GRCm39) missense probably benign 0.01
R2056:Ndst3 UTSW 3 123,465,534 (GRCm39) missense probably damaging 0.98
R2362:Ndst3 UTSW 3 123,346,327 (GRCm39) missense possibly damaging 0.94
R2484:Ndst3 UTSW 3 123,346,186 (GRCm39) missense possibly damaging 0.83
R3747:Ndst3 UTSW 3 123,465,201 (GRCm39) missense probably benign 0.09
R4152:Ndst3 UTSW 3 123,465,876 (GRCm39) missense probably damaging 1.00
R4153:Ndst3 UTSW 3 123,465,876 (GRCm39) missense probably damaging 1.00
R4154:Ndst3 UTSW 3 123,465,876 (GRCm39) missense probably damaging 1.00
R4512:Ndst3 UTSW 3 123,465,315 (GRCm39) missense probably damaging 1.00
R4579:Ndst3 UTSW 3 123,340,474 (GRCm39) missense probably benign 0.00
R4646:Ndst3 UTSW 3 123,465,684 (GRCm39) missense probably damaging 0.96
R4718:Ndst3 UTSW 3 123,465,915 (GRCm39) missense probably benign 0.35
R4944:Ndst3 UTSW 3 123,400,676 (GRCm39) missense probably damaging 0.99
R4945:Ndst3 UTSW 3 123,346,201 (GRCm39) missense probably damaging 1.00
R5179:Ndst3 UTSW 3 123,346,181 (GRCm39) missense probably damaging 0.97
R5232:Ndst3 UTSW 3 123,465,888 (GRCm39) missense probably damaging 0.99
R5421:Ndst3 UTSW 3 123,428,008 (GRCm39) splice site probably null
R5874:Ndst3 UTSW 3 123,355,556 (GRCm39) missense probably damaging 1.00
R6030:Ndst3 UTSW 3 123,346,168 (GRCm39) missense probably damaging 1.00
R6030:Ndst3 UTSW 3 123,346,168 (GRCm39) missense probably damaging 1.00
R6228:Ndst3 UTSW 3 123,465,301 (GRCm39) nonsense probably null
R6496:Ndst3 UTSW 3 123,346,201 (GRCm39) missense probably damaging 0.99
R6562:Ndst3 UTSW 3 123,346,181 (GRCm39) missense probably damaging 0.97
R7045:Ndst3 UTSW 3 123,465,732 (GRCm39) missense probably damaging 0.96
R7152:Ndst3 UTSW 3 123,346,305 (GRCm39) missense possibly damaging 0.66
R7202:Ndst3 UTSW 3 123,465,388 (GRCm39) missense possibly damaging 0.94
R7239:Ndst3 UTSW 3 123,400,555 (GRCm39) missense probably damaging 1.00
R7305:Ndst3 UTSW 3 123,395,131 (GRCm39) missense possibly damaging 0.62
R7417:Ndst3 UTSW 3 123,465,313 (GRCm39) missense probably damaging 1.00
R7469:Ndst3 UTSW 3 123,465,310 (GRCm39) missense possibly damaging 0.82
R7553:Ndst3 UTSW 3 123,350,709 (GRCm39) splice site probably null
R7955:Ndst3 UTSW 3 123,400,586 (GRCm39) missense probably benign 0.01
R8065:Ndst3 UTSW 3 123,395,094 (GRCm39) missense probably damaging 1.00
R8067:Ndst3 UTSW 3 123,395,094 (GRCm39) missense probably damaging 1.00
R8363:Ndst3 UTSW 3 123,350,517 (GRCm39) missense possibly damaging 0.83
R8708:Ndst3 UTSW 3 123,322,564 (GRCm39) missense probably benign 0.01
R8752:Ndst3 UTSW 3 123,342,684 (GRCm39) missense probably damaging 1.00
R9051:Ndst3 UTSW 3 123,465,549 (GRCm39) missense probably benign 0.00
R9428:Ndst3 UTSW 3 123,340,518 (GRCm39) missense probably benign 0.00
R9511:Ndst3 UTSW 3 123,400,555 (GRCm39) missense probably damaging 1.00
R9537:Ndst3 UTSW 3 123,465,162 (GRCm39) missense
R9662:Ndst3 UTSW 3 123,465,115 (GRCm39) missense probably benign 0.01
R9667:Ndst3 UTSW 3 123,353,866 (GRCm39) missense possibly damaging 0.67
R9747:Ndst3 UTSW 3 123,340,461 (GRCm39) missense possibly damaging 0.84
R9748:Ndst3 UTSW 3 123,421,631 (GRCm39) missense probably benign 0.17
Z1176:Ndst3 UTSW 3 123,465,143 (GRCm39) missense probably damaging 1.00
Z1176:Ndst3 UTSW 3 123,421,618 (GRCm39) missense possibly damaging 0.49
Z1176:Ndst3 UTSW 3 123,346,279 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- GATGCCACCAACTGAGGAAATC -3'
(R):5'- ACTCCTTCGTGTGACCAAATC -3'

Sequencing Primer
(F):5'- AGAGCCTTACCTTCACATCATTGGTG -3'
(R):5'- GTGTGACCAAATCATCCAAGCTGG -3'
Posted On 2015-09-25