Incidental Mutation 'R3747:Ndst3'
ID 309849
Institutional Source Beutler Lab
Gene Symbol Ndst3
Ensembl Gene ENSMUSG00000027977
Gene Name N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 3
Synonyms 4930511P15Rik, 4921531K01Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.248) question?
Stock # R3747 (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 123465201 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 257 (I257T)
Ref Sequence ENSEMBL: ENSMUSP00000118796 (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: I257T

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000029602
Gene: ENSMUSG00000027977
AA Change: I257T

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: I257T

PolyPhen 2 Score 0.090 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000118796
Gene: ENSMUSG00000027977
AA Change: I257T

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: I257T

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000118207
Gene: ENSMUSG00000027977
AA Change: I257T

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: I257T

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000133657
Gene: ENSMUSG00000027977
AA Change: I257T

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: 99.2%
  • 3x: 98.6%
  • 10x: 97.4%
  • 20x: 95.6%
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: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aasdh C A 5: 77,036,501 (GRCm39) E347* probably null Het
Abhd18 A G 3: 40,888,008 (GRCm39) N284S probably benign Het
Adam12 T C 7: 133,774,594 (GRCm39) D5G probably damaging Het
Adam26b A C 8: 43,974,234 (GRCm39) V256G probably benign Het
Aga T A 8: 53,970,856 (GRCm39) I192N probably benign Het
Ago1 A G 4: 126,354,837 (GRCm39) I125T probably benign Het
Alk A G 17: 72,218,560 (GRCm39) S762P probably damaging Het
Bckdk C A 7: 127,504,590 (GRCm39) R105S probably damaging Het
Cby3 T C 11: 50,250,501 (GRCm39) *236R probably null Het
Cfhr1 C A 1: 139,485,372 (GRCm39) probably null Het
Clcn1 T A 6: 42,276,849 (GRCm39) Y393N probably damaging Het
Cx3cr1 T C 9: 119,881,132 (GRCm39) H90R probably damaging Het
Cyp3a16 T A 5: 145,378,881 (GRCm39) K380M probably damaging Het
Cyp4v3 G A 8: 45,768,745 (GRCm39) R272* probably null Het
Dazap1 C T 10: 80,123,498 (GRCm39) R391C possibly damaging Het
Dgkh T A 14: 78,821,885 (GRCm39) E876V probably damaging Het
Dnah8 A T 17: 31,003,148 (GRCm39) K3616* probably null Het
E2f1 C G 2: 154,405,942 (GRCm39) G144R probably damaging Het
Fam221a A G 6: 49,349,630 (GRCm39) D2G probably damaging Het
Fam43a C T 16: 30,420,664 (GRCm39) T416I probably benign Het
Fam90a1a C A 8: 22,453,221 (GRCm39) S192* probably null Het
Foxd1 G C 13: 98,492,424 (GRCm39) A433P unknown Het
Garin4 T G 1: 190,896,207 (GRCm39) Q145H probably damaging Het
Gm10152 G A 7: 144,316,937 (GRCm39) probably null Het
Hipk3 T A 2: 104,271,628 (GRCm39) R435* probably null Het
Hnrnpab T A 11: 51,493,473 (GRCm39) Y245F probably benign Het
Islr2 A T 9: 58,106,925 (GRCm39) S112T probably benign Het
Itgb7 A T 15: 102,131,212 (GRCm39) V280D probably damaging Het
Kndc1 G A 7: 139,507,817 (GRCm39) probably null Het
Lrba T G 3: 86,283,260 (GRCm39) L1858R probably damaging Het
Mroh2b G A 15: 4,981,728 (GRCm39) W1513* probably null Het
Nbeal1 A G 1: 60,234,182 (GRCm39) D51G probably damaging Het
Ncoa6 G A 2: 155,253,561 (GRCm39) P939L probably benign Het
Nolc1 CAG CAGAAG 19: 46,069,795 (GRCm39) probably benign Het
Nuf2 T A 1: 169,352,945 (GRCm39) N20I probably damaging Het
Osbpl7 T C 11: 96,946,879 (GRCm39) V223A probably damaging Het
Pcm1 T C 8: 41,785,041 (GRCm39) I2064T probably benign Het
Pkd1 A G 17: 24,810,435 (GRCm39) R90G possibly damaging Het
Pkdrej T A 15: 85,705,278 (GRCm39) K219N probably damaging Het
Ppil4 A T 10: 7,690,457 (GRCm39) Q370L probably benign Het
Pramel18 T A 4: 101,767,073 (GRCm39) D107E possibly damaging Het
Primpol A T 8: 47,052,848 (GRCm39) D154E probably benign Het
Rb1cc1 T G 1: 6,318,966 (GRCm39) V778G possibly damaging Het
Sgms1 A T 19: 32,136,994 (GRCm39) S191T possibly damaging Het
Sned1 T A 1: 93,189,473 (GRCm39) F303Y probably damaging Het
Sp9 T A 2: 73,104,652 (GRCm39) M402K probably damaging Het
Spon1 T C 7: 113,365,621 (GRCm39) L19P probably damaging Het
Spon1 T A 7: 113,616,024 (GRCm39) V297E possibly damaging Het
Tlr5 T C 1: 182,802,004 (GRCm39) I436T probably benign Het
Tmem63a G A 1: 180,790,679 (GRCm39) D446N possibly damaging Het
Tpcn2 T C 7: 144,809,260 (GRCm39) H682R probably damaging Het
Ugt1a6a T C 1: 88,066,871 (GRCm39) Y226H probably damaging Het
Upf1 G T 8: 70,786,000 (GRCm39) N975K possibly damaging Het
Ush2a G A 1: 188,542,489 (GRCm39) G3352S probably benign Het
Vmn1r39 T C 6: 66,781,854 (GRCm39) N155D probably benign Het
Vwa5b2 A G 16: 20,417,076 (GRCm39) probably benign Het
Yipf4 G A 17: 74,803,667 (GRCm39) probably null Het
Zdhhc17 T C 10: 110,780,281 (GRCm39) I624M probably benign Het
Zfhx4 G A 3: 5,308,225 (GRCm39) E484K possibly damaging Het
Zswim4 G A 8: 84,938,676 (GRCm39) P1069S possibly 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
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
R4611:Ndst3 UTSW 3 123,465,198 (GRCm39) missense probably benign 0.35
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'- TGCCACCAACTGAGGAAATC -3'
(R):5'- CACTCCTTCGTGTGACCAAATC -3'

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