Incidental Mutation 'R6562:Ndst3'
ID 522422
Institutional Source Beutler Lab
Gene Symbol Ndst3
Ensembl Gene ENSMUSG00000027977
Gene Name N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 3
Synonyms 4930511P15Rik, 4921531K01Rik
MMRRC Submission 044686-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.248) question?
Stock # R6562 (G1)
Quality Score 225.009
Status Validated
Chromosome 3
Chromosomal Location 123319815-123484502 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 123346181 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 698 (S698P)
Ref Sequence ENSEMBL: ENSMUSP00000133657 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029602] [ENSMUST00000124803] [ENSMUST00000132112] [ENSMUST00000137404] [ENSMUST00000154668] [ENSMUST00000172537]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000029602
AA Change: S698P

PolyPhen 2 Score 0.967 (Sensitivity: 0.77; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000029602
Gene: ENSMUSG00000027977
AA Change: S698P

DomainStartEndE-ValueType
Pfam:HSNSD 19 506 4.6e-272 PFAM
Pfam:Sulfotransfer_1 595 858 8.4e-44 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000124803
AA Change: S283P

PolyPhen 2 Score 0.816 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000122617
Gene: ENSMUSG00000027977
AA Change: S283P

DomainStartEndE-ValueType
Pfam:HSNSD 1 91 1.7e-62 PFAM
Pfam:Sulfotransfer_1 180 443 7.8e-44 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000132112
AA Change: S283P

PolyPhen 2 Score 0.816 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000120623
Gene: ENSMUSG00000027977
AA Change: S283P

DomainStartEndE-ValueType
Pfam:HSNSD 1 91 1.7e-62 PFAM
Pfam:Sulfotransfer_1 180 443 7.8e-44 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000132896
Predicted Effect probably benign
Transcript: ENSMUST00000137404
SMART Domains Protein: ENSMUSP00000118796
Gene: ENSMUSG00000027977

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 damaging
Transcript: ENSMUST00000154668
AA Change: S698P

PolyPhen 2 Score 0.967 (Sensitivity: 0.77; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000118207
Gene: ENSMUSG00000027977
AA Change: S698P

DomainStartEndE-ValueType
Pfam:HSNSD 20 506 1.7e-253 PFAM
Pfam:Sulfotransfer_1 595 858 8.4e-44 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000172537
AA Change: S698P

PolyPhen 2 Score 0.967 (Sensitivity: 0.77; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000133657
Gene: ENSMUSG00000027977
AA Change: S698P

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: ENSMUST00000199825
Predicted Effect noncoding transcript
Transcript: ENSMUST00000199046
Meta Mutation Damage Score 0.3186 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.3%
  • 20x: 97.9%
Validation Efficiency 100% (60/60)
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: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933434E20Rik A G 3: 89,970,543 (GRCm39) K26E probably benign Het
Abt1 T G 13: 23,607,758 (GRCm39) E82A probably damaging Het
Actr8 A G 14: 29,708,411 (GRCm39) probably null Het
Akap12 G T 10: 4,306,141 (GRCm39) E984* probably null Het
Ankrd13a C A 5: 114,942,453 (GRCm39) probably benign Het
Ankrd13c T A 3: 157,705,309 (GRCm39) S411T probably damaging Het
Arhgef28 A G 13: 98,124,647 (GRCm39) probably null Het
Arhgef3 A T 14: 26,874,953 (GRCm39) probably benign Het
Atad5 T C 11: 80,024,032 (GRCm39) S1712P probably benign Het
Bbs12 A G 3: 37,374,389 (GRCm39) E394G probably damaging Het
Ccdc158 T G 5: 92,810,581 (GRCm39) K102N probably damaging Het
Ccdc169 A G 3: 55,058,235 (GRCm39) N89S probably damaging Het
Cd200l1 C T 16: 45,264,442 (GRCm39) E39K probably benign Het
Cenpu T C 8: 47,025,858 (GRCm39) I132T possibly damaging Het
Cnrip1 G A 11: 17,028,539 (GRCm39) W157* probably null Het
Ctnnd1 A G 2: 84,454,652 (GRCm39) S53P probably benign Het
Dcpp3 AGGCCATGCTGGCC AGGCC 17: 24,136,572 (GRCm39) probably benign Het
Dock7 A T 4: 98,879,647 (GRCm39) V969D probably damaging Het
Ehd2 C A 7: 15,691,492 (GRCm39) R280L probably benign Het
Entpd5 T C 12: 84,432,974 (GRCm39) T218A probably damaging Het
Fcrl2 A C 3: 87,164,635 (GRCm39) I297S probably benign Het
Frmpd2 T A 14: 33,293,872 (GRCm39) L1346Q probably benign Het
Fry T C 5: 150,249,614 (GRCm39) S142P probably damaging Het
Gbgt1 A T 2: 28,394,898 (GRCm39) I179F probably damaging Het
Gm17067 A T 7: 42,358,153 (GRCm39) S116R probably damaging Het
Gm5565 G T 5: 146,094,964 (GRCm39) P261T probably damaging Het
Kat6a T C 8: 23,401,803 (GRCm39) F391L probably benign Het
Kcnmb4 A T 10: 116,309,089 (GRCm39) probably null Het
Krt6a T A 15: 101,600,094 (GRCm39) H386L probably benign Het
L3mbtl1 C T 2: 162,812,124 (GRCm39) T723I probably benign Het
Lamb2 A T 9: 108,364,207 (GRCm39) R1049W possibly damaging Het
Lrmda T C 14: 22,648,254 (GRCm39) probably benign Het
Lysmd2 C T 9: 75,542,691 (GRCm39) T95I unknown Het
Nin T C 12: 70,102,728 (GRCm39) D300G probably damaging Het
Nutf2 G T 8: 106,602,258 (GRCm39) D23Y probably benign Het
Or6c211 G A 10: 129,506,008 (GRCm39) P127S probably damaging Het
Ovgp1 A G 3: 105,887,589 (GRCm39) Y300C probably damaging Het
Pgghg A G 7: 140,526,506 (GRCm39) I633V probably benign Het
Pik3r3 C T 4: 116,157,006 (GRCm39) Q496* probably null Het
Pkn3 G T 2: 29,970,699 (GRCm39) probably null Het
Plin2 A T 4: 86,576,832 (GRCm39) S298T probably benign Het
Prdm8 T C 5: 98,331,202 (GRCm39) V18A possibly damaging Het
Rel C A 11: 23,707,026 (GRCm39) G59* probably null Het
Siglecg A G 7: 43,058,481 (GRCm39) R123G possibly damaging Het
Slc13a1 T A 6: 24,150,792 (GRCm39) I49F probably benign Het
Slc39a10 T A 1: 46,874,724 (GRCm39) T193S probably benign Het
Slc9a3 T A 13: 74,303,280 (GRCm39) V191E probably damaging Het
Spata31e2 T A 1: 26,721,443 (GRCm39) T1246S possibly damaging Het
Sult2b1 A C 7: 45,391,670 (GRCm39) S39A probably benign Het
Tead1 A G 7: 112,460,650 (GRCm39) T185A probably benign Het
Tmem67 A G 4: 12,053,445 (GRCm39) probably null Het
Trim12c A T 7: 103,994,341 (GRCm39) probably null Het
Trpm6 T A 19: 18,815,406 (GRCm39) F1164Y probably damaging Het
Ube2d1 C T 10: 71,098,071 (GRCm39) D16N probably benign Het
Vmn2r24 A T 6: 123,757,386 (GRCm39) I85F probably benign Het
Vwde T A 6: 13,193,122 (GRCm39) N406Y possibly damaging Het
Wdr54 A T 6: 83,132,050 (GRCm39) probably null Het
Zcchc14 A T 8: 122,330,842 (GRCm39) N840K probably damaging Het
Zfp451 C A 1: 33,801,260 (GRCm39) S1052I 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
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
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
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'- GTCTTTTATCCAAATCTGAGAGGG -3'
(R):5'- CCAGCATATAAACGTAAGGGGC -3'

Sequencing Primer
(F):5'- ATGGAAGCGTCTGAGACTCATTCC -3'
(R):5'- GGCTTGTTTTGAAAAAGATGCTCC -3'
Posted On 2018-06-06