Mutagenetix > Incidental Mutations

Incidental Mutation 'R1104:Ndst1'

98420

Institutional Source

Beutler Lab

Gene Symbol

Ndst1

Ensembl Gene

ENSMUSG00000054008

Gene Name

N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 1

Synonyms

glucosaminyl N-deacetylase/N-sulfotransferase 1, b2b2230Clo, Hsst, Ndst-1, 1200015G06Rik

MMRRC Submission

039177-MU

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R1104 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

60685978-60713389 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 60697146 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Cysteine at position 631 (S631C)

Ref Sequence

ENSEMBL: ENSMUSP00000126623 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000169273]

AlphaFold

Q3UHN9

Predicted Effect

probably damaging
Transcript: ENSMUST00000169273
AA Change: S631C

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000126623
Gene: ENSMUSG00000054008
AA Change: S631C

Domain	Start	End	E-Value	Type
low complexity region	3	12	N/A	INTRINSIC
Pfam:HSNSD	25	515	5.1e-254	PFAM
Pfam:Sulfotransfer_1	604	869	2.2e-48	PFAM

Meta Mutation Damage Score

0.2680

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 96.9%
20x: 94.3%

Validation Efficiency

99% (70/71)

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. The encoded protein catalyzes the transfer of sulfate from 3'-phosphoadenosine 5'-phosphosulfate to nitrogen of glucosamine in heparan sulfate. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2014]
PHENOTYPE: Mice homozygous for disruptions in this gene die late in gestation or neonatally. Lungs fail to inflate and mice born alive experience respiratory distress and failure. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700056E22Rik	C	T	1: 184,033,505	S119N	probably benign	Het
4430402I18Rik	T	C	19: 28,967,632	M1V	probably null	Het
4930550C14Rik	A	G	9: 53,421,617	I93V	probably benign	Het
Abcg5	A	C	17: 84,682,049	I77S	possibly damaging	Het
Adam3	T	C	8: 24,681,529	Y762C	probably benign	Het
Agap1	T	C	1: 89,789,240	S26P	probably damaging	Het
Ago1	T	C	4: 126,453,633	Y441C	probably damaging	Het
B3gnt3	A	G	8: 71,693,837	L16S	possibly damaging	Het
Btaf1	T	A	19: 37,004,602	D1677E	probably damaging	Het
Cd5l	T	A	3: 87,360,899	S18T	probably benign	Het
Cdca2	T	A	14: 67,693,682	R521W	probably damaging	Het
Cfap61	C	A	2: 145,951,061	S64*	probably null	Het
Cryzl2	T	A	1: 157,470,604		probably benign	Het
Cul7	T	A	17: 46,663,190	L1467H	probably damaging	Het
Dhrs1	T	C	14: 55,743,705	K83E	probably benign	Het
Dmrt2	T	A	19: 25,678,616	F526L	probably benign	Het
Dnajb14	T	A	3: 137,908,354	M342K	possibly damaging	Het
Dpf3	A	G	12: 83,331,987	V101A	probably benign	Het
Dthd1	A	C	5: 62,821,959	T321P	probably damaging	Het
Flt4	C	T	11: 49,636,339		probably benign	Het
Fras1	G	A	5: 96,708,671	R1971Q	probably benign	Het
Fry	A	G	5: 150,496,289	N608S	probably damaging	Het
Gabrr3	T	A	16: 59,461,635	V451D	probably damaging	Het
Glg1	A	G	8: 111,197,603	L251P	probably benign	Het
Gli2	T	A	1: 118,853,350	S222C	probably damaging	Het
Gm340	G	T	19: 41,586,063	G1086C	probably damaging	Het
Gsr	A	G	8: 33,669,921	E99G	probably damaging	Het
Hist1h1b	T	C	13: 21,780,281	T92A	possibly damaging	Het
Hlx	G	T	1: 184,731,987	A52D	probably damaging	Het
Hus1b	T	C	13: 30,947,696		probably benign	Het
Igf1r	T	A	7: 68,195,026	I849N	possibly damaging	Het
Itih5	A	G	2: 10,251,512	T930A	probably benign	Het
Ivns1abp	T	A	1: 151,360,109	M309K	probably benign	Het
Kdm3b	T	A	18: 34,819,811	F1078Y	probably damaging	Het
Krt12	C	A	11: 99,421,966	G84V	unknown	Het
Krt40	T	G	11: 99,540,233	E150A	probably damaging	Het
Lcn11	G	T	2: 25,779,103		probably benign	Het
Liph	A	G	16: 21,984,148	I57T	possibly damaging	Het
Lrrc46	C	T	11: 97,036,171	V107M	probably damaging	Het
Ltb4r1	T	C	14: 55,767,375	I45T	probably damaging	Het
Mapkbp1	A	G	2: 120,011,073		probably benign	Het
Mark3	C	T	12: 111,618,397		probably benign	Het
Mug2	C	T	6: 122,059,055	A642V	probably benign	Het
Myh11	A	G	16: 14,202,127	S1814P	possibly damaging	Het
Nrbf2	A	T	10: 67,267,912	D137E	possibly damaging	Het
Olfr630	A	G	7: 103,754,976	V203A	probably benign	Het
Olfr698	A	T	7: 106,752,782	M202K	probably benign	Het
Olfr784	T	A	10: 129,388,221	M196K	probably benign	Het
Parn	A	G	16: 13,667,585	Y16H	probably damaging	Het
Parp14	A	G	16: 35,844,415		probably benign	Het
Prl3d1	C	T	13: 27,100,009	T187I	probably benign	Het
Ptgir	G	A	7: 16,907,130		probably null	Het
Rabgap1l	C	T	1: 160,231,875		probably benign	Het
Rims4	C	T	2: 163,863,929	V262M	possibly damaging	Het
Rnf213	T	C	11: 119,477,229	Y4697H	probably benign	Het
Rps6ka4	T	A	19: 6,830,996	I598F	probably damaging	Het
Ryr2	C	T	13: 11,669,969	V3029M	probably damaging	Het
Slc17a2	T	C	13: 23,819,937	F335S	probably damaging	Het
Stau2	A	T	1: 16,440,361	Y124*	probably null	Het
Tbl3	A	G	17: 24,701,606	I652T	probably benign	Het
Trappc3	C	T	4: 126,272,966		probably benign	Het
Trim60	A	T	8: 65,001,419	F59L	probably benign	Het
Ugcg	C	T	4: 59,207,798	P46S	probably benign	Het
Ush2a	T	C	1: 188,916,256	F4686S	probably benign	Het
Vcan	T	C	13: 89,692,410	T1672A	probably damaging	Het
Vmn1r215	T	A	13: 23,076,588	I266N	possibly damaging	Het
Vmn2r6	A	T	3: 64,538,066	V657E	possibly damaging	Het
Wdr95	G	T	5: 149,606,337	A548S	probably benign	Het
Zfp12	A	G	5: 143,245,745	Y609C	probably damaging	Het
Znfx1	C	A	2: 167,055,640	E455*	probably null	Het

Other mutations in Ndst1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00336:Ndst1	APN	18	60707956	missense	probably damaging	1.00
IGL01410:Ndst1	APN	18	60700445	missense	probably damaging	1.00
IGL01578:Ndst1	APN	18	60713126	missense	probably damaging	1.00
IGL02133:Ndst1	APN	18	60699546	missense	probably benign	0.05
IGL03200:Ndst1	APN	18	60699539	missense	possibly damaging	0.86
R0631:Ndst1	UTSW	18	60700359	splice site	probably benign
R0899:Ndst1	UTSW	18	60707882	missense	probably benign	0.00
R1371:Ndst1	UTSW	18	60707647	missense	possibly damaging	0.90
R1456:Ndst1	UTSW	18	60713205	missense	possibly damaging	0.73
R1511:Ndst1	UTSW	18	60697170	missense	possibly damaging	0.61
R1524:Ndst1	UTSW	18	60698504	missense	probably damaging	0.99
R1699:Ndst1	UTSW	18	60695508	missense	probably damaging	1.00
R1718:Ndst1	UTSW	18	60707803	missense	probably damaging	0.99
R1772:Ndst1	UTSW	18	60702837	missense	probably damaging	0.99
R1900:Ndst1	UTSW	18	60712721	critical splice donor site	probably null
R2079:Ndst1	UTSW	18	60695509	missense	probably damaging	1.00
R2105:Ndst1	UTSW	18	60691253	missense	probably benign	0.01
R2127:Ndst1	UTSW	18	60691208	missense	probably benign	0.00
R2875:Ndst1	UTSW	18	60690047	missense	probably damaging	1.00
R3798:Ndst1	UTSW	18	60713166	missense	possibly damaging	0.94
R3950:Ndst1	UTSW	18	60697139	missense	probably benign	0.12
R3951:Ndst1	UTSW	18	60697139	missense	probably benign	0.12
R3952:Ndst1	UTSW	18	60697139	missense	probably benign	0.12
R4868:Ndst1	UTSW	18	60695476	missense	probably benign	0.07
R4898:Ndst1	UTSW	18	60691987	missense	probably benign	0.12
R4988:Ndst1	UTSW	18	60702933	missense	probably damaging	0.99
R5271:Ndst1	UTSW	18	60705132	missense	probably benign	0.03
R5337:Ndst1	UTSW	18	60690007	missense	probably damaging	1.00
R5467:Ndst1	UTSW	18	60692021	missense	probably benign
R5830:Ndst1	UTSW	18	60703838	missense	probably damaging	1.00
R5968:Ndst1	UTSW	18	60713076	missense	probably benign
R6241:Ndst1	UTSW	18	60703829	missense	probably damaging	0.99
R6422:Ndst1	UTSW	18	60702953	missense	probably benign	0.44
R7099:Ndst1	UTSW	18	60695500	missense	possibly damaging	0.88
R7544:Ndst1	UTSW	18	60697184	missense	probably damaging	1.00
R8918:Ndst1	UTSW	18	60692011	missense	probably benign	0.00
R8951:Ndst1	UTSW	18	60697124	missense	probably benign
R9187:Ndst1	UTSW	18	60691196	missense	probably benign	0.03
R9374:Ndst1	UTSW	18	60712859	missense	probably damaging	0.97
V8831:Ndst1	UTSW	18	60702927	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TTGCACCATGACTCACTGTGCC -3'
(R):5'- TCATGAGGGAGCTAAGACTCCAGAC -3'

Sequencing Primer
(F):5'- CCTGTTTATAGGAATCTCAGCCGAG -3'
(R):5'- ctaagactccagacgggaag -3'

Posted On

2014-01-05