Mutagenetix > Incidental Mutation

Incidental Mutation 'R7553:Ndst3'

585994

Institutional Source

Beutler Lab

Gene Symbol

Ndst3

Ensembl Gene

ENSMUSG00000027977

Gene Name

N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 3

Synonyms

4930511P15Rik, 4921531K01Rik

MMRRC Submission

Accession Numbers

Is this an essential gene?

Possibly non essential (E-score: 0.294) question?

Stock #

R7553 (G1)

Quality Score

147.008

Status

Validated

Chromosome

Chromosomal Location

123526166-123690853 bp(-) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

G to T at 123557060 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

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 null
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 null
Transcript: ENSMUST00000124803

SMART Domains

Protein: ENSMUSP00000122617
Gene: ENSMUSG00000027977

Domain	Start	End	E-Value	Type
Pfam:HSNSD	1	91	1.7e-62	PFAM
Pfam:Sulfotransfer_1	180	443	7.8e-44	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000132112

SMART Domains

Protein: ENSMUSP00000120623
Gene: ENSMUSG00000027977

Domain	Start	End	E-Value	Type
Pfam:HSNSD	1	91	1.7e-62	PFAM
Pfam:Sulfotransfer_1	180	443	7.8e-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 null
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 null
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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

Validation Efficiency

98% (62/63)

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: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc6	A	G	7: 45,999,121	L649P	probably damaging	Het
Acad10	T	C	5: 121,639,255	Y371C	probably damaging	Het
Avp	A	G	2: 130,581,178	V71A	probably damaging	Het
Bhmt	C	T	13: 93,620,081		probably null	Het
Capn15	T	C	17: 25,960,764	E874G	probably damaging	Het
Capn5	A	G	7: 98,124,024	F591S	probably damaging	Het
Ccne2	A	T	4: 11,201,348	Q292L	probably benign	Het
Cd96	T	G	16: 46,052,021	T406P	probably damaging	Het
Csnk1e	G	A	15: 79,426,366	A153V	probably damaging	Het
Dlk1	G	A	12: 109,454,963	V15I	unknown	Het
Dmbt1	A	G	7: 131,104,867	N1372S	unknown	Het
Dntt	A	T	19: 41,029,487	R17W	probably damaging	Het
Erich3	G	T	3: 154,733,500	A260S	probably benign	Het
Foxp2	C	T	6: 15,437,882	S669L	unknown	Het
Gm40460	ACCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG	ACCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG	7: 142,240,713		probably benign	Het
Gm9268	T	G	7: 43,048,023	C835G	probably damaging	Het
Grid2	A	G	6: 64,076,941	K375E	possibly damaging	Het
Grin2b	C	T	6: 135,772,396	G603S	possibly damaging	Het
Hexb	C	T	13: 97,198,173	R30Q	probably benign	Het
Homer3	A	T	8: 70,290,124	T162S	probably benign	Het
L3mbtl1	A	G	2: 162,948,231	E15G	probably benign	Het
Manea	A	T	4: 26,327,986	F352I	probably damaging	Het
Mcf2l	T	A	8: 12,997,268	M210K	probably benign	Het
Morc3	T	C	16: 93,870,936	L734P	probably damaging	Het
Mybpc2	A	G	7: 44,506,147	V894A	possibly damaging	Het
Myh4	T	A	11: 67,256,395	M1622K	probably damaging	Het
Myrf	A	G	19: 10,228,876	F59L	probably benign	Het
Nln	TGGTCCAGGTAAAACTGCCCCAGCCAATCAGGTACCTTGGATAGAGGTCCAGGTAAAACTGCCCCAGCCAATCAGGTACCTTGGATAGAGGTCCAGGTAGAACTGCCCCAGC	TGGTCCAGGTAAAACTGCCCCAGCCAATCAGGTACCTTGGATAGAGGTCCAGGTAGAACTGCCCCAGC	13: 104,050,416		probably null	Het
Nos3	A	T	5: 24,381,717	D986V	possibly damaging	Het
Nrp1	G	A	8: 128,431,987	A252T	probably damaging	Het
Nup205	G	T	6: 35,201,999	R668L	probably damaging	Het
Olfr313	T	A	11: 58,817,060	D17E	probably benign	Het
Olfr477	G	A	7: 107,990,475	V37I	probably benign	Het
Olfr612	T	C	7: 103,539,156	Y26C	probably damaging	Het
Pcdhga1	T	A	18: 37,749,682		probably null	Het
Pck1	A	G	2: 173,157,067	I373V	probably benign	Het
Pde8b	T	C	13: 95,086,750	N227S	probably benign	Het
Pianp	T	G	6: 124,999,251	S8A	unknown	Het
Pkd1l3	GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA	GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA	8: 109,624,195		probably benign	Het
Pla2r1	A	T	2: 60,522,899	N239K	possibly damaging	Het
Pls1	T	A	9: 95,787,087	N27I	probably damaging	Het
Prep	T	C	10: 45,158,524	*711Q	probably null	Het
Prkag3	A	G	1: 74,744,735	F330L	probably damaging	Het
Prss56	A	G	1: 87,183,539	D16G	probably benign	Het
Rad17	A	T	13: 100,633,286	F255Y	probably damaging	Het
Rap1gap2	T	C	11: 74,435,722	E173G	probably damaging	Het
Retreg3	C	T	11: 101,106,390	R88H	possibly damaging	Het
Rhag	G	A	17: 40,828,395	G74R	probably damaging	Het
Rybp	A	G	6: 100,232,259	S201P	possibly damaging	Het
S100a10	G	A	3: 93,564,295	C62Y	probably benign	Het
Scgb2b3	T	A	7: 31,360,248	S34C	possibly damaging	Het
Serpind1	A	G	16: 17,336,675	D122G	probably benign	Het
Setdb1	A	G	3: 95,346,765	L242P	probably damaging	Het
Slc14a2	T	A	18: 78,155,588	I776F	probably damaging	Het
Slc9a1	A	G	4: 133,412,269	E266G	probably damaging	Het
Stard9	A	T	2: 120,693,808		probably null	Het
Stpg2	A	G	3: 139,218,337	Y167C	probably damaging	Het
Tex264	T	C	9: 106,659,136	E274G	probably damaging	Het
Tigd2	G	A	6: 59,211,579	S477N	probably benign	Het
Urb1	A	G	16: 90,792,864	L343P	probably damaging	Het
Vars2	A	T	17: 35,664,788	C246S	possibly damaging	Het
Vil1	G	A	1: 74,426,732		probably null	Het
Vmn2r61	C	G	7: 42,266,781	L273V	not run	Het
Zfp37	C	A	4: 62,191,999	G317V	probably damaging	Het
Zfp760	A	G	17: 21,722,891	K349R	possibly damaging	Het
Zyx	A	T	6: 42,350,474	E69V	probably null	Het

Other mutations in Ndst3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00505:Ndst3	APN	3	123627950	splice site	probably benign
IGL00543:Ndst3	APN	3	123672263	missense	probably damaging	0.99
IGL01067:Ndst3	APN	3	123546817	missense	probably damaging	1.00
IGL01301:Ndst3	APN	3	123548916	missense	probably damaging	0.97
IGL01975:Ndst3	APN	3	123601514	missense	possibly damaging	0.67
IGL02376:Ndst3	APN	3	123556798	missense	probably damaging	0.98
IGL02715:Ndst3	APN	3	123546761	splice site	probably benign
IGL03111:Ndst3	APN	3	123672096	missense	possibly damaging	0.96
Jack_sprat	UTSW	3	123552552	missense	probably damaging	0.99
ANU18:Ndst3	UTSW	3	123548916	missense	probably damaging	0.97
R0027:Ndst3	UTSW	3	123671513	missense	probably damaging	1.00
R0288:Ndst3	UTSW	3	123672194	missense	probably benign	0.03
R0630:Ndst3	UTSW	3	123562071	missense	probably damaging	0.98
R1168:Ndst3	UTSW	3	123606968	missense	probably benign	0.22
R1400:Ndst3	UTSW	3	123556828	missense	probably damaging	1.00
R1513:Ndst3	UTSW	3	123601455	missense	possibly damaging	0.75
R1524:Ndst3	UTSW	3	123548906	missense	possibly damaging	0.94
R1830:Ndst3	UTSW	3	123548938	missense	probably damaging	0.96
R1831:Ndst3	UTSW	3	123601478	missense	probably benign
R1865:Ndst3	UTSW	3	123671471	missense	probably damaging	1.00
R1871:Ndst3	UTSW	3	123562024	missense	probably damaging	1.00
R2041:Ndst3	UTSW	3	123672215	missense	probably benign	0.01
R2056:Ndst3	UTSW	3	123671885	missense	probably damaging	0.98
R2362:Ndst3	UTSW	3	123552678	missense	possibly damaging	0.94
R2484:Ndst3	UTSW	3	123552537	missense	possibly damaging	0.83
R3747:Ndst3	UTSW	3	123671552	missense	probably benign	0.09
R4152:Ndst3	UTSW	3	123672227	missense	probably damaging	1.00
R4153:Ndst3	UTSW	3	123672227	missense	probably damaging	1.00
R4154:Ndst3	UTSW	3	123672227	missense	probably damaging	1.00
R4512:Ndst3	UTSW	3	123671666	missense	probably damaging	1.00
R4579:Ndst3	UTSW	3	123546825	missense	probably benign	0.00
R4611:Ndst3	UTSW	3	123671549	missense	probably benign	0.35
R4646:Ndst3	UTSW	3	123672035	missense	probably damaging	0.96
R4718:Ndst3	UTSW	3	123672266	missense	probably benign	0.35
R4944:Ndst3	UTSW	3	123607027	missense	probably damaging	0.99
R4945:Ndst3	UTSW	3	123552552	missense	probably damaging	1.00
R5179:Ndst3	UTSW	3	123552532	missense	probably damaging	0.97
R5232:Ndst3	UTSW	3	123672239	missense	probably damaging	0.99
R5421:Ndst3	UTSW	3	123634359	splice site	probably null
R5874:Ndst3	UTSW	3	123561907	missense	probably damaging	1.00
R6030:Ndst3	UTSW	3	123552519	missense	probably damaging	1.00
R6030:Ndst3	UTSW	3	123552519	missense	probably damaging	1.00
R6228:Ndst3	UTSW	3	123671652	nonsense	probably null
R6496:Ndst3	UTSW	3	123552552	missense	probably damaging	0.99
R6562:Ndst3	UTSW	3	123552532	missense	probably damaging	0.97
R7045:Ndst3	UTSW	3	123672083	missense	probably damaging	0.96
R7152:Ndst3	UTSW	3	123552656	missense	possibly damaging	0.66
R7202:Ndst3	UTSW	3	123671739	missense	possibly damaging	0.94
R7239:Ndst3	UTSW	3	123606906	missense	probably damaging	1.00
R7305:Ndst3	UTSW	3	123601482	missense	possibly damaging	0.62
R7417:Ndst3	UTSW	3	123671664	missense	probably damaging	1.00
R7469:Ndst3	UTSW	3	123671661	missense	possibly damaging	0.82
R7955:Ndst3	UTSW	3	123606937	missense	probably benign	0.01
R8065:Ndst3	UTSW	3	123601445	missense	probably damaging	1.00
R8067:Ndst3	UTSW	3	123601445	missense	probably damaging	1.00
R8363:Ndst3	UTSW	3	123556868	missense	possibly damaging	0.83
R8708:Ndst3	UTSW	3	123528915	missense	probably benign	0.01
R8752:Ndst3	UTSW	3	123549035	missense	probably damaging	1.00
R9051:Ndst3	UTSW	3	123671900	missense	probably benign	0.00
R9428:Ndst3	UTSW	3	123546869	missense	probably benign	0.00
R9511:Ndst3	UTSW	3	123606906	missense	probably damaging	1.00
R9537:Ndst3	UTSW	3	123671513	missense
R9662:Ndst3	UTSW	3	123671466	missense	probably benign	0.01
R9667:Ndst3	UTSW	3	123560217	missense	possibly damaging	0.67
R9747:Ndst3	UTSW	3	123546812	missense	possibly damaging	0.84
R9748:Ndst3	UTSW	3	123627982	missense	probably benign	0.17
Z1176:Ndst3	UTSW	3	123552630	missense	probably damaging	1.00
Z1176:Ndst3	UTSW	3	123627969	missense	possibly damaging	0.49
Z1176:Ndst3	UTSW	3	123671494	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AAGAACTGTACCTCCTCAAAGG -3'
(R):5'- ACAGGATGTCTCTTCGCATC -3'

Sequencing Primer
(F):5'- TACTAAGGATGGAAGGATGCATAATC -3'
(R):5'- GATGTCTCTTCGCATCACAGAAAATC -3'

Posted On

2019-10-18