Mutagenetix > Incidental Mutation

Incidental Mutation 'R8708:Ndst3'

669340

Institutional Source

Beutler Lab

Gene Symbol

Ndst3

Ensembl Gene

ENSMUSG00000027977

Gene Name

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

Synonyms

4930511P15Rik, 4921531K01Rik

MMRRC Submission

068562-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.319) question?

Stock #

R8708 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

123526166-123690853 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 123528915 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Alanine at position 840 (S840A)

Ref Sequence

ENSEMBL: ENSMUSP00000029602 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000029602] [ENSMUST00000124803] [ENSMUST00000132112] [ENSMUST00000137404] [ENSMUST00000154668] [ENSMUST00000172537]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000029602
AA Change: S840A

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000029602
Gene: ENSMUSG00000027977
AA Change: S840A

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: ENSMUST00000124803
AA Change: S425A

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000122617
Gene: ENSMUSG00000027977
AA Change: S425A

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: ENSMUST00000132112
AA Change: S425A

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000120623
Gene: ENSMUSG00000027977
AA Change: S425A

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 benign
Transcript: ENSMUST00000154668
AA Change: S840A

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000118207
Gene: ENSMUSG00000027977
AA Change: S840A

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
AA Change: S840A

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000133657
Gene: ENSMUSG00000027977
AA Change: S840A

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: 100.0%
10x: 99.8%
20x: 99.4%

Validation Efficiency

98% (99/101)

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: 103 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adra1d	T	C	2: 131,561,480 (GRCm38)	K230R	probably damaging	Het
Akp3	T	A	1: 87,126,369 (GRCm38)	Y236*	probably null	Het
Alg11	T	C	8: 22,065,113 (GRCm38)	F130S	probably damaging	Het
Ankfn1	A	T	11: 89,503,930 (GRCm38)	S276R	possibly damaging	Het
Ankhd1	T	A	18: 36,594,291 (GRCm38)	H486Q	probably damaging	Het
Ankrd23	T	C	1: 36,534,088 (GRCm38)	T68A	probably benign	Het
Arhgap23	A	G	11: 97,452,412 (GRCm38)	T507A	probably benign	Het
Arid1a	A	T	4: 133,681,834 (GRCm38)	D1787E	unknown	Het
Atad2b	T	A	12: 4,961,253 (GRCm38)	D504E	probably damaging	Het
Atg2b	T	A	12: 105,669,428 (GRCm38)		probably benign	Het
Bptf	C	A	11: 107,073,313 (GRCm38)	S1685I	probably damaging	Het
Bptf	T	A	11: 107,073,314 (GRCm38)	S1685C	probably damaging	Het
Cacna1c	A	T	6: 118,627,455 (GRCm38)	I1437N		Het
Capn1	T	C	19: 6,011,298 (GRCm38)	K197E	probably damaging	Het
Ccdc177	T	C	12: 80,759,117 (GRCm38)	T128A	probably benign	Het
Ccdc7b	G	T	8: 129,136,614 (GRCm38)	M9I	probably benign	Het
Celf1	T	A	2: 91,010,580 (GRCm38)		probably null	Het
Ckap5	T	A	2: 91,595,478 (GRCm38)	N1285K	probably benign	Het
Col24a1	C	T	3: 145,545,265 (GRCm38)	T1673I	probably damaging	Het
Dbp	A	G	7: 45,709,801 (GRCm38)	E300G	probably damaging	Het
Dchs2	C	A	3: 83,128,742 (GRCm38)	H265Q	probably benign	Het
Dicer1	A	T	12: 104,728,445 (GRCm38)	S198T	possibly damaging	Het
Dnase1l2	A	T	17: 24,442,292 (GRCm38)	F86L	probably benign	Het
Dnhd1	T	G	7: 105,694,280 (GRCm38)	Y1610*	probably null	Het
Dock5	A	G	14: 67,767,371 (GRCm38)	V1529A	probably benign	Het
Egfr	G	T	11: 16,867,300 (GRCm38)		probably benign	Het
Exph5	T	A	9: 53,375,796 (GRCm38)	H1392Q	probably benign	Het
Fam78b	A	G	1: 167,078,763 (GRCm38)	K164E	possibly damaging	Het
Fignl2	C	A	15: 101,052,853 (GRCm38)	R516L	unknown	Het
Fndc7	C	T	3: 108,867,212 (GRCm38)	E577K	probably benign	Het
Fryl	T	C	5: 73,132,562 (GRCm38)	E107G	probably benign	Het
Gbp10	A	T	5: 105,220,965 (GRCm38)	M336K	probably damaging	Het
Gm11444	A	T	11: 85,846,897 (GRCm38)	C156S		Het
Gm6904	A	T	14: 59,244,813 (GRCm38)	C164S	probably damaging	Het
Gm996	C	A	2: 25,577,802 (GRCm38)	R699L	possibly damaging	Het
Golga3	C	A	5: 110,202,855 (GRCm38)	A752E	probably benign	Het
Gper1	G	T	5: 139,425,935 (GRCm38)	V12L	probably benign	Het
Hmbox1	G	T	14: 64,823,640 (GRCm38)	A394E	probably damaging	Het
Ighv1-71	T	A	12: 115,742,335 (GRCm38)	I77L	probably benign	Het
Ing4	A	T	6: 125,047,932 (GRCm38)	N214Y	probably damaging	Het
Ints8	A	G	4: 11,208,824 (GRCm38)		probably null	Het
Itpa	T	A	2: 130,675,719 (GRCm38)	V129E	probably damaging	Het
Itpripl1	T	A	2: 127,141,342 (GRCm38)	M287L	probably benign	Het
Klc3	T	C	7: 19,395,859 (GRCm38)	I362V	probably damaging	Het
Ky	T	A	9: 102,525,391 (GRCm38)		probably benign	Het
Lasp1	A	G	11: 97,806,883 (GRCm38)	N43S	possibly damaging	Het
Limk2	A	G	11: 3,350,763 (GRCm38)	M380T	probably benign	Het
Lrp2	T	A	2: 69,459,613 (GRCm38)	E3627D	probably damaging	Het
Lrrc25	T	C	8: 70,617,809 (GRCm38)	L80P	probably damaging	Het
Mcoln3	A	T	3: 146,140,521 (GRCm38)	K529*	probably null	Het
Mdn1	A	C	4: 32,725,854 (GRCm38)	D2591A	probably damaging	Het
Med12l	A	G	3: 59,252,330 (GRCm38)	I1267V	probably benign	Het
Mei4	C	A	9: 81,927,542 (GRCm38)	S226*	probably null	Het
Mios	G	A	6: 8,234,255 (GRCm38)	V809M	probably benign	Het
Mmp17	G	A	5: 129,595,422 (GRCm38)	R146Q	possibly damaging	Het
Mob3a	G	A	10: 80,691,384 (GRCm38)	Q36*	probably null	Het
Myo3a	T	A	2: 22,291,796 (GRCm38)		probably benign	Het
Naca	A	T	10: 128,048,074 (GRCm38)	I2125F	probably damaging	Het
Nlrp4c	T	C	7: 6,065,604 (GRCm38)	M168T	probably damaging	Het
Nt5c3	A	G	6: 56,897,773 (GRCm38)		probably null	Het
Olfr1245	C	A	2: 89,575,279 (GRCm38)	G149V	probably damaging	Het
Olfr1489	T	C	19: 13,634,037 (GRCm38)	S309P	probably benign	Het
Olfr366	T	A	2: 37,219,944 (GRCm38)	S152T	probably damaging	Het
Olfr774	T	A	10: 129,238,809 (GRCm38)	I220N	possibly damaging	Het
Pcgf3	A	G	5: 108,486,197 (GRCm38)	D107G	probably benign	Het
Pde2a	A	G	7: 101,510,381 (GRCm38)	D816G	probably damaging	Het
Phf10	T	A	17: 14,955,999 (GRCm38)	T131S	possibly damaging	Het
Phrf1	A	G	7: 141,232,533 (GRCm38)	D70G	unknown	Het
Piezo2	A	G	18: 63,093,015 (GRCm38)	L850S	probably damaging	Het
Plcg1	T	A	2: 160,754,553 (GRCm38)		probably benign	Het
Plekhh2	A	T	17: 84,574,993 (GRCm38)	I676L	probably benign	Het
Ppp1r9a	T	G	6: 5,115,196 (GRCm38)	V804G	probably damaging	Het
Ppt2	T	C	17: 34,625,639 (GRCm38)	H180R	possibly damaging	Het
Prdm15	T	C	16: 97,816,866 (GRCm38)	H398R	unknown	Het
Rab26	A	T	17: 24,529,798 (GRCm38)	M208K	probably damaging	Het
Rab31	A	C	17: 65,667,864 (GRCm38)		probably benign	Het
Radil	A	G	5: 142,485,449 (GRCm38)	V1024A	probably damaging	Het
Rorb	A	G	19: 18,983,416 (GRCm38)	I65T	probably damaging	Het
Sall1	A	T	8: 89,032,855 (GRCm38)	V207E	probably damaging	Het
Sart3	A	T	5: 113,744,667 (GRCm38)	M864K	possibly damaging	Het
Sdcbp2	T	A	2: 151,589,537 (GRCm38)	S277T	probably benign	Het
Sept5	A	G	16: 18,624,872 (GRCm38)	V100A	probably benign	Het
Sipa1	C	T	19: 5,660,952 (GRCm38)	R10Q	probably damaging	Het
Ski	A	T	4: 155,160,662 (GRCm38)	S376T	probably damaging	Het
Slc15a4	A	T	5: 127,596,651 (GRCm38)	D566E	probably benign	Het
Srgap2	G	A	1: 131,345,806 (GRCm38)	Q372*	probably null	Het
Stard9	A	G	2: 120,703,578 (GRCm38)	T3439A	probably damaging	Het
Tln1	T	C	4: 43,534,769 (GRCm38)		probably benign	Het
Tmco3	A	G	8: 13,295,998 (GRCm38)	M279V	probably benign	Het
Tmem39b	T	C	4: 129,676,398 (GRCm38)		probably benign	Het
Trio	T	A	15: 27,732,546 (GRCm38)	N3083I	probably damaging	Het
Ube3b	G	A	5: 114,393,090 (GRCm38)	R215Q	probably benign	Het
Ubr1	T	C	2: 120,866,483 (GRCm38)	N1646S	probably benign	Het
Uqcrc1	T	G	9: 108,947,040 (GRCm38)	F270C	probably damaging	Het
Vmn2r108	T	A	17: 20,462,425 (GRCm38)	N839I	probably damaging	Het
Vmn2r75	A	T	7: 86,163,268 (GRCm38)	S514R	probably damaging	Het
Wdfy4	C	G	14: 32,967,532 (GRCm38)	V3016L		Het
Wdr11	A	G	7: 129,599,056 (GRCm38)	N77S	probably benign	Het
Wdr17	C	A	8: 54,640,092 (GRCm38)		probably benign	Het
Wrn	T	A	8: 33,292,643 (GRCm38)	N753I	probably damaging	Het
Zan	A	G	5: 137,463,277 (GRCm38)		probably null	Het
Zfat	T	A	15: 68,084,429 (GRCm38)	T1203S	possibly damaging	Het
Zfhx2	A	C	14: 55,075,052 (GRCm38)	S62A	probably benign	Het

Other mutations in Ndst3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00505:Ndst3	APN	3	123,627,950 (GRCm38)	splice site	probably benign
IGL00543:Ndst3	APN	3	123,672,263 (GRCm38)	missense	probably damaging	0.99
IGL01067:Ndst3	APN	3	123,546,817 (GRCm38)	missense	probably damaging	1.00
IGL01301:Ndst3	APN	3	123,548,916 (GRCm38)	missense	probably damaging	0.97
IGL01975:Ndst3	APN	3	123,601,514 (GRCm38)	missense	possibly damaging	0.67
IGL02376:Ndst3	APN	3	123,556,798 (GRCm38)	missense	probably damaging	0.98
IGL02715:Ndst3	APN	3	123,546,761 (GRCm38)	splice site	probably benign
IGL03111:Ndst3	APN	3	123,672,096 (GRCm38)	missense	possibly damaging	0.96
Jack_sprat	UTSW	3	123,552,552 (GRCm38)	missense	probably damaging	0.99
ANU18:Ndst3	UTSW	3	123,548,916 (GRCm38)	missense	probably damaging	0.97
R0027:Ndst3	UTSW	3	123,671,513 (GRCm38)	missense	probably damaging	1.00
R0288:Ndst3	UTSW	3	123,672,194 (GRCm38)	missense	probably benign	0.03
R0630:Ndst3	UTSW	3	123,562,071 (GRCm38)	missense	probably damaging	0.98
R1168:Ndst3	UTSW	3	123,606,968 (GRCm38)	missense	probably benign	0.22
R1400:Ndst3	UTSW	3	123,556,828 (GRCm38)	missense	probably damaging	1.00
R1513:Ndst3	UTSW	3	123,601,455 (GRCm38)	missense	possibly damaging	0.75
R1524:Ndst3	UTSW	3	123,548,906 (GRCm38)	missense	possibly damaging	0.94
R1830:Ndst3	UTSW	3	123,548,938 (GRCm38)	missense	probably damaging	0.96
R1831:Ndst3	UTSW	3	123,601,478 (GRCm38)	missense	probably benign
R1865:Ndst3	UTSW	3	123,671,471 (GRCm38)	missense	probably damaging	1.00
R1871:Ndst3	UTSW	3	123,562,024 (GRCm38)	missense	probably damaging	1.00
R2041:Ndst3	UTSW	3	123,672,215 (GRCm38)	missense	probably benign	0.01
R2056:Ndst3	UTSW	3	123,671,885 (GRCm38)	missense	probably damaging	0.98
R2362:Ndst3	UTSW	3	123,552,678 (GRCm38)	missense	possibly damaging	0.94
R2484:Ndst3	UTSW	3	123,552,537 (GRCm38)	missense	possibly damaging	0.83
R3747:Ndst3	UTSW	3	123,671,552 (GRCm38)	missense	probably benign	0.09
R4152:Ndst3	UTSW	3	123,672,227 (GRCm38)	missense	probably damaging	1.00
R4153:Ndst3	UTSW	3	123,672,227 (GRCm38)	missense	probably damaging	1.00
R4154:Ndst3	UTSW	3	123,672,227 (GRCm38)	missense	probably damaging	1.00
R4512:Ndst3	UTSW	3	123,671,666 (GRCm38)	missense	probably damaging	1.00
R4579:Ndst3	UTSW	3	123,546,825 (GRCm38)	missense	probably benign	0.00
R4611:Ndst3	UTSW	3	123,671,549 (GRCm38)	missense	probably benign	0.35
R4646:Ndst3	UTSW	3	123,672,035 (GRCm38)	missense	probably damaging	0.96
R4718:Ndst3	UTSW	3	123,672,266 (GRCm38)	missense	probably benign	0.35
R4944:Ndst3	UTSW	3	123,607,027 (GRCm38)	missense	probably damaging	0.99
R4945:Ndst3	UTSW	3	123,552,552 (GRCm38)	missense	probably damaging	1.00
R5179:Ndst3	UTSW	3	123,552,532 (GRCm38)	missense	probably damaging	0.97
R5232:Ndst3	UTSW	3	123,672,239 (GRCm38)	missense	probably damaging	0.99
R5421:Ndst3	UTSW	3	123,634,359 (GRCm38)	splice site	probably null
R5874:Ndst3	UTSW	3	123,561,907 (GRCm38)	missense	probably damaging	1.00
R6030:Ndst3	UTSW	3	123,552,519 (GRCm38)	missense	probably damaging	1.00
R6030:Ndst3	UTSW	3	123,552,519 (GRCm38)	missense	probably damaging	1.00
R6228:Ndst3	UTSW	3	123,671,652 (GRCm38)	nonsense	probably null
R6496:Ndst3	UTSW	3	123,552,552 (GRCm38)	missense	probably damaging	0.99
R6562:Ndst3	UTSW	3	123,552,532 (GRCm38)	missense	probably damaging	0.97
R7045:Ndst3	UTSW	3	123,672,083 (GRCm38)	missense	probably damaging	0.96
R7152:Ndst3	UTSW	3	123,552,656 (GRCm38)	missense	possibly damaging	0.66
R7202:Ndst3	UTSW	3	123,671,739 (GRCm38)	missense	possibly damaging	0.94
R7239:Ndst3	UTSW	3	123,606,906 (GRCm38)	missense	probably damaging	1.00
R7305:Ndst3	UTSW	3	123,601,482 (GRCm38)	missense	possibly damaging	0.62
R7417:Ndst3	UTSW	3	123,671,664 (GRCm38)	missense	probably damaging	1.00
R7469:Ndst3	UTSW	3	123,671,661 (GRCm38)	missense	possibly damaging	0.82
R7553:Ndst3	UTSW	3	123,557,060 (GRCm38)	splice site	probably null
R7955:Ndst3	UTSW	3	123,606,937 (GRCm38)	missense	probably benign	0.01
R8065:Ndst3	UTSW	3	123,601,445 (GRCm38)	missense	probably damaging	1.00
R8067:Ndst3	UTSW	3	123,601,445 (GRCm38)	missense	probably damaging	1.00
R8363:Ndst3	UTSW	3	123,556,868 (GRCm38)	missense	possibly damaging	0.83
R8752:Ndst3	UTSW	3	123,549,035 (GRCm38)	missense	probably damaging	1.00
R9051:Ndst3	UTSW	3	123,671,900 (GRCm38)	missense	probably benign	0.00
R9428:Ndst3	UTSW	3	123,546,869 (GRCm38)	missense	probably benign	0.00
R9511:Ndst3	UTSW	3	123,606,906 (GRCm38)	missense	probably damaging	1.00
R9537:Ndst3	UTSW	3	123,671,513 (GRCm38)	missense
R9662:Ndst3	UTSW	3	123,671,466 (GRCm38)	missense	probably benign	0.01
R9667:Ndst3	UTSW	3	123,560,217 (GRCm38)	missense	possibly damaging	0.67
R9747:Ndst3	UTSW	3	123,546,812 (GRCm38)	missense	possibly damaging	0.84
R9748:Ndst3	UTSW	3	123,627,982 (GRCm38)	missense	probably benign	0.17
Z1176:Ndst3	UTSW	3	123,671,494 (GRCm38)	missense	probably damaging	1.00
Z1176:Ndst3	UTSW	3	123,627,969 (GRCm38)	missense	possibly damaging	0.49
Z1176:Ndst3	UTSW	3	123,552,630 (GRCm38)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AGCACATGGAAGAGCCTTG -3'
(R):5'- TTCCTACTTCAGACGCCAGAC -3'

Sequencing Primer
(F):5'- ATGCAGAGGTATGTGTTCCAC -3'
(R):5'- CAAAACAAAGTATTCCAGGGTGTG -3'

Posted On

2021-04-30