Incidental Mutation 'R9051:Ndst3'
ID 688346
Institutional Source Beutler Lab
Gene Symbol Ndst3
Ensembl Gene ENSMUSG00000027977
Gene Name N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 3
Synonyms 4930511P15Rik, 4921531K01Rik
MMRRC Submission 068877-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.248) question?
Stock # R9051 (G1)
Quality Score 225.009
Status Not validated
Chromosome 3
Chromosomal Location 123319815-123484502 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 123465549 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Serine at position 141 (N141S)
Ref Sequence ENSEMBL: ENSMUSP00000029602 (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: N141S

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
SMART Domains Protein: ENSMUSP00000029602
Gene: ENSMUSG00000027977
AA Change: N141S

DomainStartEndE-ValueType
Pfam:HSNSD 19 506 4.6e-272 PFAM
Pfam:Sulfotransfer_1 595 858 8.4e-44 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000137404
AA Change: N141S

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000118796
Gene: ENSMUSG00000027977
AA Change: N141S

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: N141S

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
SMART Domains Protein: ENSMUSP00000118207
Gene: ENSMUSG00000027977
AA Change: N141S

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: N141S

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
SMART Domains Protein: ENSMUSP00000133657
Gene: ENSMUSG00000027977
AA Change: N141S

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.9%
  • 20x: 99.6%
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: 92 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 A T 11: 9,285,232 (GRCm39) T3289S probably damaging Het
Actr1b G T 1: 36,740,534 (GRCm39) Q240K probably benign Het
Adamts19 T C 18: 59,034,048 (GRCm39) V341A probably damaging Het
Akirin2 C A 4: 34,551,148 (GRCm39) S35* probably null Het
Alg3 G T 16: 20,427,765 (GRCm39) Q90K probably benign Het
Alox12 C T 11: 70,138,153 (GRCm39) R394H possibly damaging Het
Ankrd17 A C 5: 90,411,134 (GRCm39) M1387R probably damaging Het
Anp32b T G 4: 46,468,592 (GRCm39) F121V possibly damaging Het
Atp2b2 A G 6: 113,740,566 (GRCm39) V815A probably damaging Het
Atxn7l1 T C 12: 33,417,420 (GRCm39) L527S probably benign Het
B9d2 C T 7: 25,385,462 (GRCm39) L91F possibly damaging Het
Bcl2l11 T A 2: 128,000,221 (GRCm39) I188N probably damaging Het
Bnc2 A C 4: 84,210,138 (GRCm39) S744A probably benign Het
Casr T G 16: 36,330,414 (GRCm39) M307L probably benign Het
Cd109 CATTTATTTATTTATTTATTTATTTATTTATTTAT CATTTATTTATTTATTTATTTATTTATTTATTTATTTAT 9: 78,619,782 (GRCm39) probably benign Het
Cd109 TTATA TTATATATA 9: 78,619,813 (GRCm39) probably benign Het
Cd22 A G 7: 30,575,449 (GRCm39) S198P probably benign Het
Cd37 C A 7: 44,886,622 (GRCm39) V99L probably benign Het
Cdkn1c A G 7: 143,013,964 (GRCm39) S161P possibly damaging Het
Chi3l1 G T 1: 134,111,919 (GRCm39) probably null Het
Col4a2 T C 8: 11,498,198 (GRCm39) F1669S probably damaging Het
Dchs2 A T 3: 83,261,493 (GRCm39) H2587L probably benign Het
Ddx19a A T 8: 111,710,228 (GRCm39) M124K probably benign Het
Dnhd1 A T 7: 105,341,933 (GRCm39) H1244L possibly damaging Het
Dnpep G A 1: 75,292,329 (GRCm39) P165L probably damaging Het
Dpp3 T C 19: 4,973,172 (GRCm39) R141G probably benign Het
Dpysl3 T C 18: 43,462,814 (GRCm39) D521G probably damaging Het
Dusp4 T A 8: 35,284,345 (GRCm39) M220K probably damaging Het
Duxf4 G A 10: 58,071,711 (GRCm39) P168S probably damaging Het
Edc4 T A 8: 106,613,833 (GRCm39) L391Q probably damaging Het
Edrf1 A C 7: 133,273,207 (GRCm39) I1221L probably benign Het
Elavl2 A G 4: 91,199,847 (GRCm39) L12P probably benign Het
Fastkd3 T A 13: 68,733,071 (GRCm39) V464D probably damaging Het
Flt4 C A 11: 49,527,598 (GRCm39) N920K probably benign Het
Gimap3 T C 6: 48,742,259 (GRCm39) T224A probably benign Het
Gm9772 T A 17: 22,225,565 (GRCm39) K112* probably null Het
Gp5 C A 16: 30,127,976 (GRCm39) V233L Het
Gpr25 A T 1: 136,188,026 (GRCm39) W196R probably benign Het
Hs3st4 G A 7: 123,582,680 (GRCm39) G93S probably damaging Het
Igsf10 A G 3: 59,236,668 (GRCm39) L1171S probably benign Het
Itgb7 C T 15: 102,126,359 (GRCm39) G526S possibly damaging Het
Kcnh8 G A 17: 53,141,642 (GRCm39) C295Y probably damaging Het
Klhl8 A G 5: 104,015,709 (GRCm39) probably null Het
Krt1c T A 15: 101,726,317 (GRCm39) I74F unknown Het
Lamp5 G T 2: 135,911,054 (GRCm39) M262I probably benign Het
Lrp5 G T 19: 3,680,156 (GRCm39) R443S possibly damaging Het
Lrrc66 G T 5: 73,765,267 (GRCm39) A592E probably benign Het
Lrrc66 C T 5: 73,765,268 (GRCm39) A592T probably benign Het
Mettl23 T A 11: 116,744,865 (GRCm39) V93D unknown Het
Mier2 G A 10: 79,384,274 (GRCm39) R166W probably damaging Het
Mkrn2os G A 6: 115,562,325 (GRCm39) R213W probably benign Het
Mrps36 T A 13: 100,877,715 (GRCm39) I22L probably damaging Het
Msantd5f4 A G 4: 73,557,185 (GRCm39) N6S possibly damaging Het
Myocd T C 11: 65,077,795 (GRCm39) R667G probably benign Het
Ncapg T A 5: 45,853,140 (GRCm39) L869M probably damaging Het
Neu2 A T 1: 87,524,965 (GRCm39) R317* probably null Het
Nf1 G T 11: 79,364,168 (GRCm39) V1533F probably damaging Het
Npy4r T A 14: 33,869,083 (GRCm39) R68S possibly damaging Het
Nr1h5 T C 3: 102,853,427 (GRCm39) H360R probably null Het
Or1x6 G A 11: 50,938,938 (GRCm39) M1I probably null Het
Or4f14c T C 2: 111,941,441 (GRCm39) D52G probably damaging Het
Or9s15 T C 1: 92,524,978 (GRCm39) S246P probably damaging Het
Osmr A C 15: 6,882,027 (GRCm39) V39G probably damaging Het
Plekhm2 T C 4: 141,359,732 (GRCm39) D345G possibly damaging Het
Prkaa2 G T 4: 104,906,600 (GRCm39) S165* probably null Het
Qser1 A T 2: 104,593,292 (GRCm39) F1575Y possibly damaging Het
Rasl11a C A 5: 146,782,107 (GRCm39) D27E probably benign Het
Ret A T 6: 118,142,888 (GRCm39) Y929* probably null Het
Samd9l T A 6: 3,373,493 (GRCm39) E1256V probably benign Het
Scnn1g A G 7: 121,341,566 (GRCm39) I243V possibly damaging Het
Slc6a3 C T 13: 73,718,031 (GRCm39) R514* probably null Het
Sorcs3 C T 19: 48,194,809 (GRCm39) A64V probably benign Het
Sos1 G T 17: 80,715,723 (GRCm39) N1011K probably benign Het
Srbd1 C A 17: 86,428,115 (GRCm39) A373S possibly damaging Het
Tas1r1 C T 4: 152,122,833 (GRCm39) W4* probably null Het
Tcf15 C T 2: 151,985,690 (GRCm39) R49C probably damaging Het
Tex30 A G 1: 44,127,136 (GRCm39) V124A possibly damaging Het
Tgif1 T C 17: 71,151,882 (GRCm39) D243G Het
Tgtp1 T G 11: 48,877,916 (GRCm39) D263A probably damaging Het
Themis3 T A 17: 66,862,864 (GRCm39) T365S probably benign Het
Thoc2l C A 5: 104,666,818 (GRCm39) P447T probably benign Het
Tprg1 A T 16: 25,231,662 (GRCm39) I213F probably damaging Het
Traf4 A T 11: 78,052,005 (GRCm39) C160S probably damaging Het
Trio T C 15: 27,732,770 (GRCm39) E3037G possibly damaging Het
Ttbk2 G T 2: 120,575,911 (GRCm39) S1022* probably null Het
Ttc6 T C 12: 57,783,949 (GRCm39) Y1803H probably damaging Het
Ttn A C 2: 76,549,452 (GRCm39) Y31742D probably benign Het
Ttn G T 2: 76,617,595 (GRCm39) P16292Q probably damaging Het
Ubr5 A G 15: 38,002,503 (GRCm39) V1510A Het
Vac14 A G 8: 111,379,869 (GRCm39) D389G probably benign Het
Vwa8 A G 14: 79,324,150 (GRCm39) D1151G probably benign Het
Zfp608 T C 18: 55,032,266 (GRCm39) N558S 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
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
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'- TTGGTCACACGAAGGAGTGG -3'
(R):5'- ATGCTTCAAGGACAGACCC -3'

Sequencing Primer
(F):5'- GGGAGTGAGGATTAATACAGCAATC -3'
(R):5'- CCCACAGTCCTGGTGTTTGTG -3'
Posted On 2021-11-19