Incidental Mutation 'R1871:Ndst3'
ID 210720
Institutional Source Beutler Lab
Gene Symbol Ndst3
Ensembl Gene ENSMUSG00000027977
Gene Name N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 3
Synonyms 4930511P15Rik, 4921531K01Rik
MMRRC Submission 039893-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.344) question?
Stock # R1871 (G1)
Quality Score 225
Status Validated
Chromosome 3
Chromosomal Location 123319815-123484502 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 123355673 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Isoleucine at position 119 (F119I)
Ref Sequence ENSEMBL: ENSMUSP00000120623 (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: F534I

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000029602
Gene: ENSMUSG00000027977
AA Change: F534I

DomainStartEndE-ValueType
Pfam:HSNSD 19 506 4.6e-272 PFAM
Pfam:Sulfotransfer_1 595 858 8.4e-44 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000124803
AA Change: F119I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000122617
Gene: ENSMUSG00000027977
AA Change: F119I

DomainStartEndE-ValueType
Pfam:HSNSD 1 91 1.7e-62 PFAM
Pfam:Sulfotransfer_1 180 443 7.8e-44 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000132112
AA Change: F119I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000120623
Gene: ENSMUSG00000027977
AA Change: F119I

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 damaging
Transcript: ENSMUST00000137404
AA Change: F534I

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000118796
Gene: ENSMUSG00000027977
AA Change: F534I

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: F534I

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000118207
Gene: ENSMUSG00000027977
AA Change: F534I

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: F534I

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000133657
Gene: ENSMUSG00000027977
AA Change: F534I

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000199825
Meta Mutation Damage Score 0.4340 question?
Coding Region Coverage
  • 1x: 97.5%
  • 3x: 97.0%
  • 10x: 95.6%
  • 20x: 93.2%
Validation Efficiency 97% (87/90)
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: 80 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A930009A15Rik A G 10: 115,415,699 (GRCm39) probably null Het
Abca13 A T 11: 9,242,134 (GRCm39) E1332D probably benign Het
Abce1 G A 8: 80,411,897 (GRCm39) Q588* probably null Het
Acads A T 5: 115,255,701 (GRCm39) C45S probably damaging Het
Adam34l A T 8: 44,078,132 (GRCm39) Y697* probably null Het
Adamts12 T C 15: 11,311,240 (GRCm39) S1166P probably benign Het
Ano4 T A 10: 88,828,889 (GRCm39) I517F probably damaging Het
Arpc1a T A 5: 145,043,901 (GRCm39) C344S possibly damaging Het
Blk A T 14: 63,613,364 (GRCm39) S381R possibly damaging Het
Capn15 C A 17: 26,183,203 (GRCm39) W426L probably damaging Het
Chd6 T C 2: 160,832,176 (GRCm39) T999A probably damaging Het
Clca3a2 A G 3: 144,503,398 (GRCm39) Y851H probably benign Het
Crp T A 1: 172,526,172 (GRCm39) W86R possibly damaging Het
Ctnnal1 G A 4: 56,812,534 (GRCm39) L705F probably benign Het
Cyp2c66 A G 19: 39,151,858 (GRCm39) D191G possibly damaging Het
Cyp4f37 A G 17: 32,853,639 (GRCm39) D441G probably damaging Het
D130040H23Rik T A 8: 69,755,354 (GRCm39) I253N probably benign Het
Dnah5 T A 15: 28,331,859 (GRCm39) Y2148* probably null Het
Eef1g A T 19: 8,955,330 (GRCm39) D393V possibly damaging Het
Elapor2 A G 5: 9,468,007 (GRCm39) E225G probably damaging Het
Ephx2 A T 14: 66,322,183 (GRCm39) I538N probably damaging Het
Fat4 T A 3: 39,035,221 (GRCm39) S2958T possibly damaging Het
Foxi1 A T 11: 34,157,937 (GRCm39) N29K possibly damaging Het
Gm10287 G T 3: 148,930,373 (GRCm39) noncoding transcript Het
Gm10801 G T 2: 98,494,185 (GRCm39) S109I probably benign Het
Gmcl1 T C 6: 86,674,498 (GRCm39) D460G probably benign Het
Gpr158 A G 2: 21,820,426 (GRCm39) D641G probably damaging Het
Heph C A X: 95,542,690 (GRCm39) S561Y probably benign Het
Hgfac A G 5: 35,200,257 (GRCm39) *90W probably null Het
Hp1bp3 C G 4: 137,949,497 (GRCm39) P65R probably damaging Het
Ighv6-4 T A 12: 114,370,221 (GRCm39) Y58F probably benign Het
Jrk T C 15: 74,578,412 (GRCm39) D291G possibly damaging Het
Kdm4d A G 9: 14,375,679 (GRCm39) Y60H probably damaging Het
Khdrbs3 T C 15: 68,921,291 (GRCm39) Y203H probably damaging Het
Klhl6 A T 16: 19,775,793 (GRCm39) V255D possibly damaging Het
Krt9 C T 11: 100,081,614 (GRCm39) R305H probably damaging Het
Lama2 T G 10: 26,860,490 (GRCm39) N2999T probably damaging Het
Letm2 A G 8: 26,086,460 (GRCm39) probably benign Het
Lipa A T 19: 34,488,328 (GRCm39) L106Q probably damaging Het
Llph A T 10: 120,067,141 (GRCm39) N86I probably damaging Het
Lyst T A 13: 13,826,297 (GRCm39) N1601K probably benign Het
Mc1r T A 8: 124,134,275 (GRCm39) S9R probably benign Het
Mfsd14a A G 3: 116,434,969 (GRCm39) I249T probably benign Het
Mtfp1 G A 11: 4,044,012 (GRCm39) R73C probably benign Het
Myo1a A G 10: 127,555,540 (GRCm39) Q877R probably benign Het
Nalcn A C 14: 123,831,965 (GRCm39) V103G possibly damaging Het
Or8k16 A G 2: 85,520,655 (GRCm39) N294S probably damaging Het
Patl1 T C 19: 11,902,596 (GRCm39) probably benign Het
Pcdhb2 A T 18: 37,430,408 (GRCm39) probably null Het
Pcdhb22 A C 18: 37,652,200 (GRCm39) T223P probably damaging Het
Pcdhga1 T A 18: 37,973,143 (GRCm39) N907K probably damaging Het
Pfas T C 11: 68,882,795 (GRCm39) D782G probably damaging Het
Plpp6 T C 19: 28,941,684 (GRCm39) F95S probably damaging Het
Polr2b T A 5: 77,474,374 (GRCm39) probably benign Het
Qars1 T G 9: 108,391,315 (GRCm39) probably null Het
Ranbp2 A G 10: 58,328,383 (GRCm39) I2800V probably damaging Het
Rnf213 T C 11: 119,340,955 (GRCm39) V3532A probably benign Het
Rubcnl T C 14: 75,279,849 (GRCm39) S411P possibly damaging Het
Scn1a C A 2: 66,148,369 (GRCm39) G1059W probably damaging Het
Sgms1 C T 19: 32,137,282 (GRCm39) V95I probably benign Het
Siglecf A G 7: 43,004,967 (GRCm39) N399S probably benign Het
Slc29a4 T C 5: 142,707,243 (GRCm39) *529R probably null Het
Slfn9 G T 11: 82,872,402 (GRCm39) T778N probably benign Het
Sorl1 G A 9: 41,881,021 (GRCm39) Q2167* probably null Het
Stkld1 A G 2: 26,827,985 (GRCm39) probably benign Het
Taar8b T C 10: 23,967,900 (GRCm39) Y98C probably damaging Het
Tecta G A 9: 42,248,472 (GRCm39) L1977F probably damaging Het
Tecta G C 9: 42,248,636 (GRCm39) T1917R probably damaging Het
Topaz1 T A 9: 122,628,544 (GRCm39) S1544T probably benign Het
Tpx2 T C 2: 152,735,523 (GRCm39) I717T probably damaging Het
Tyk2 A T 9: 21,032,737 (GRCm39) V342E probably damaging Het
Ube4a A T 9: 44,856,235 (GRCm39) probably null Het
Unc80 A T 1: 66,549,876 (GRCm39) R711S possibly damaging Het
Ush2a C A 1: 188,558,665 (GRCm39) D3631E probably benign Het
Usp34 A G 11: 23,314,479 (GRCm39) H807R probably benign Het
Vps13a T C 19: 16,642,028 (GRCm39) T2200A probably benign Het
Wif1 A G 10: 120,920,824 (GRCm39) I215M probably benign Het
Wnk1 T C 6: 119,928,050 (GRCm39) T1134A probably damaging Het
Xxylt1 A G 16: 30,776,235 (GRCm39) V367A probably damaging Het
Zfp735 A T 11: 73,601,412 (GRCm39) K119* probably null 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
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
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'- TGCACAGTTTCACTTAGATGTTCTG -3'
(R):5'- TGATGGAAATCCTTATGTCGAGC -3'

Sequencing Primer
(F):5'- CTTTACGGAACTACAAACTGCG -3'
(R):5'- GATCATTCTGCTCTCTGGTG -3'
Posted On 2014-06-30