Mutagenetix > Incidental Mutations

Incidental Mutation 'R1456:Ndst1'

161830

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

039511-MU

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R1456 (G1)

Quality Score

155

Status

Validated

Chromosome

Chromosomal Location

60685978-60713389 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 60713205 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Arginine at position 11 (C11R)

Ref Sequence

ENSEMBL: ENSMUSP00000126623 (fasta)

Gene Model

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

AlphaFold

Q3UHN9

Predicted Effect

possibly damaging
Transcript: ENSMUST00000169273
AA Change: C11R

PolyPhen 2 Score 0.734 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000126623
Gene: ENSMUSG00000054008
AA Change: C11R

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

0.3732

Coding Region Coverage

1x: 98.9%
3x: 97.9%
10x: 95.1%
20x: 88.9%

Validation Efficiency

98% (90/92)

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: 88 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921504E06Rik	C	T	2: 19,480,920		probably null	Het
4930563D23Rik	T	A	16: 92,320,665	Y245F	probably damaging	Het
4932414N04Rik	A	T	2: 68,716,214	E80V	possibly damaging	Het
Alkbh3	A	G	2: 94,001,419		probably null	Het
Ankar	A	T	1: 72,665,118	Y664N	probably benign	Het
Arhgap18	T	C	10: 26,916,440	I629T	probably benign	Het
Arhgef28	C	T	13: 98,075,002	E158K	probably benign	Het
Asxl2	C	T	12: 3,501,872	H1205Y	possibly damaging	Het
Birc6	A	G	17: 74,609,290	I427V	probably benign	Het
Camk4	A	G	18: 33,129,843		probably benign	Het
Ccdc178	A	T	18: 22,150,424	D16E	possibly damaging	Het
Cct6b	G	T	11: 82,753,620		probably benign	Het
Ccz1	A	G	5: 144,011,018		probably benign	Het
Cdh23	T	C	10: 60,487,120	N335S	possibly damaging	Het
Cemip	T	A	7: 83,998,510	S121C	possibly damaging	Het
Cers1	A	G	8: 70,331,188	E262G	probably damaging	Het
Clec11a	G	T	7: 44,306,450	P58T	possibly damaging	Het
Clec16a	T	C	16: 10,691,555	I797T	probably damaging	Het
Col4a1	A	C	8: 11,242,829		probably benign	Het
Colgalt2	G	A	1: 152,484,904	V231I	probably damaging	Het
D430041D05Rik	G	T	2: 104,208,083	N1580K	probably damaging	Het
Dcdc5	A	G	2: 106,351,565		noncoding transcript	Het
Ddx17	T	C	15: 79,530,376	D530G	probably benign	Het
Dhx9	A	T	1: 153,465,695	D601E	probably benign	Het
Dnah3	A	G	7: 120,047,630	Y1059H	probably damaging	Het
Dtx1	C	A	5: 120,710,504		probably benign	Het
Egfr	A	G	11: 16,863,065	S182G	probably benign	Het
Fads1	A	G	19: 10,185,752	N131S	probably benign	Het
Fancm	C	T	12: 65,118,351	A1490V	possibly damaging	Het
Fsd2	C	A	7: 81,559,591	E168*	probably null	Het
Gm20388	T	C	8: 122,841,948		probably benign	Het
Gm9772	A	T	17: 22,007,118	C62S	probably damaging	Het
H60c	C	T	10: 3,260,307	A81T	possibly damaging	Het
Hira	T	G	16: 18,925,663	S377A	probably benign	Het
Iffo1	T	C	6: 125,145,914	S220P	possibly damaging	Het
Itih4	A	G	14: 30,892,653	M491V	probably benign	Het
Khdrbs2	T	C	1: 32,520,696	R102G	possibly damaging	Het
Klhdc7a	T	G	4: 139,965,524	Y704S	possibly damaging	Het
Klk1b21	G	A	7: 44,105,499	V73I	probably benign	Het
Krt42	G	A	11: 100,269,609	A88V	probably benign	Het
Krt42	C	T	11: 100,269,610	A88T	probably benign	Het
Limk1	G	T	5: 134,657,510	D580E	probably benign	Het
Lipk	C	T	19: 34,046,785	P323S	probably damaging	Het
Lipo5	T	A	19: 33,465,873		probably benign	Het
Llgl2	A	G	11: 115,845,499	D166G	probably benign	Het
Mapk8ip3	A	T	17: 24,906,949	N439K	probably damaging	Het
Mapkbp1	C	T	2: 119,973,145	R32W	probably damaging	Het
Med23	T	A	10: 24,903,652		probably benign	Het
Mrgprb1	A	T	7: 48,448,029	M45K	probably damaging	Het
Mroh7	G	A	4: 106,695,141		probably benign	Het
Mrpl27	G	A	11: 94,653,833		probably benign	Het
Ms4a10	T	A	19: 10,964,733	T175S	possibly damaging	Het
Muc3	T	C	5: 137,137,951	H330R	probably benign	Het
Myo15	A	T	11: 60,508,202	I2787F	probably damaging	Het
Obsl1	C	A	1: 75,487,656	G1669*	probably null	Het
Olfr477	A	G	7: 107,990,398	E11G	probably benign	Het
Olfr784	A	T	10: 129,387,783	D50V	probably damaging	Het
Olfr873	T	C	9: 20,300,838	Y214H	probably benign	Het
Pafah2	T	A	4: 134,404,157	I52N	probably damaging	Het
Pcsk6	A	T	7: 66,043,535	I693F	possibly damaging	Het
Pde4c	G	T	8: 70,746,613	R228L	probably benign	Het
Pdzd8	T	C	19: 59,300,472	N832S	probably benign	Het
Plbd1	T	A	6: 136,613,816	M451L	probably benign	Het
Pramef17	G	T	4: 143,993,281	D171E	probably benign	Het
Prom1	T	C	5: 44,037,623	D260G	probably damaging	Het
Ranbp17	A	G	11: 33,266,310	S813P	probably damaging	Het
Scn10a	T	C	9: 119,691,478	I119V	probably benign	Het
Sh3pxd2b	A	G	11: 32,415,967	T353A	probably damaging	Het
Shq1	A	T	6: 100,669,698		probably null	Het
Slc22a28	T	A	19: 8,071,858	H342L	possibly damaging	Het
Slco2b1	C	T	7: 99,664,907	E9K	probably null	Het
Specc1l	T	C	10: 75,246,284	F505L	probably damaging	Het
Sptan1	G	T	2: 29,980,203		probably null	Het
St6gal2	A	G	17: 55,490,931		probably benign	Het
Taok2	T	C	7: 126,880,141	I73V	probably benign	Het
Tax1bp1	C	T	6: 52,744,244	T478I	probably benign	Het
Tbc1d4	A	T	14: 101,507,106	N361K	probably damaging	Het
Tph1	A	T	7: 46,647,483	Y429*	probably null	Het
Tprkb	A	T	6: 85,924,421	R14W	probably damaging	Het
Trio	A	T	15: 27,753,804		probably benign	Het
Ttc23	T	C	7: 67,667,154		probably benign	Het
Vmn1r211	T	C	13: 22,852,245	Y84C	probably damaging	Het
Vmn2r22	C	G	6: 123,637,665	G322A	possibly damaging	Het
Wdr74	A	G	19: 8,740,412	Q330R	probably benign	Het
Wdtc1	C	A	4: 133,297,428	S486I	possibly damaging	Het
Zbtb24	T	C	10: 41,464,993	V673A	possibly damaging	Het
Zfpm2	A	T	15: 41,102,481	R655S	probably damaging	Het
Zkscan5	A	G	5: 145,220,988	N694D	probably benign	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
R1104:Ndst1	UTSW	18	60697146	missense	probably damaging	0.98
R1371:Ndst1	UTSW	18	60707647	missense	possibly damaging	0.90
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'- ACTGGATTCCAGGATTGCCACCAC -3'
(R):5'- ACTTTTGCTCTGCACAGGACCAC -3'

Sequencing Primer
(F):5'- AGCTGTGAATAAAGGCTCTCC -3'
(R):5'- CAAGACCAGCCTGTAGACTGTG -3'

Posted On

2014-03-14