Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00505:Ndst3'

12310

Institutional Source

Australian Phenomics Network (link to record)

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 #

IGL00505

Quality Score

Status

Chromosome

Chromosomal Location

123319815-123484502 bp(-) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

G to A at 123421599 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

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

SMART Domains

Protein: ENSMUSP00000029602
Gene: ENSMUSG00000027977

Domain	Start	End	E-Value	Type
Pfam:HSNSD	19	506	4.6e-272	PFAM
Pfam:Sulfotransfer_1	595	858	8.4e-44	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000137404

SMART Domains

Protein: ENSMUSP00000118796
Gene: ENSMUSG00000027977

Domain	Start	End	E-Value	Type
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

SMART Domains

Protein: ENSMUSP00000118207
Gene: ENSMUSG00000027977

Domain	Start	End	E-Value	Type
Pfam:HSNSD	20	506	1.7e-253	PFAM
Pfam:Sulfotransfer_1	595	858	8.4e-44	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000172537

SMART Domains

Protein: ENSMUSP00000133657
Gene: ENSMUSG00000027977

Domain	Start	End	E-Value	Type
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

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: 23 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca15	T	A	7: 119,968,459 (GRCm39)		probably null	Het
Akap6	A	G	12: 52,933,885 (GRCm39)	H459R	possibly damaging	Het
Anxa5	A	G	3: 36,511,646 (GRCm39)	S144P	possibly damaging	Het
Cacna1h	T	G	17: 25,600,482 (GRCm39)	T1620P	probably damaging	Het
Cdc27	T	G	11: 104,412,258 (GRCm39)	T444P	probably benign	Het
Cfap46	C	T	7: 139,240,605 (GRCm39)	S56N	probably damaging	Het
Cntnap5b	A	G	1: 100,306,886 (GRCm39)	R868G	possibly damaging	Het
Cyp2j5	A	T	4: 96,519,012 (GRCm39)	N421K	probably damaging	Het
Dhcr7	T	C	7: 143,400,805 (GRCm39)	Y323H	probably damaging	Het
Dnai4	G	T	4: 102,960,439 (GRCm39)	S70R	possibly damaging	Het
Gabrq	T	C	X: 71,881,971 (GRCm39)	S601P	probably damaging	Het
Gm3404	T	A	5: 146,465,095 (GRCm39)	D278E	probably damaging	Het
Gpr61	A	G	3: 108,058,514 (GRCm39)	M49T	probably damaging	Het
Map3k20	T	C	2: 72,219,827 (GRCm39)	F253S	probably damaging	Het
Rcor3	C	T	1: 191,812,271 (GRCm39)		probably benign	Het
Slc15a2	C	A	16: 36,574,137 (GRCm39)	C572F	probably benign	Het
Sp2	C	T	11: 96,845,387 (GRCm39)	R578H	probably damaging	Het
Spaca1	A	G	4: 34,029,077 (GRCm39)	I132T	probably damaging	Het
Spag6	C	A	2: 18,738,995 (GRCm39)	N308K	probably benign	Het
Stac	C	T	9: 111,464,107 (GRCm39)	R53Q	probably damaging	Het
Tekt3	A	G	11: 62,961,064 (GRCm39)	S78G	probably benign	Het
Vdac3	C	T	8: 23,070,393 (GRCm39)	G172S	possibly damaging	Het
Wdr87-ps	A	C	7: 29,233,608 (GRCm39)		noncoding transcript	Het

Other mutations in Ndst3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
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

Posted On

2012-12-06