Mutagenetix > Incidental Mutations

Incidental Mutation 'R0004:Ndst4'

32373

Institutional Source

Beutler Lab

Gene Symbol

Ndst4

Ensembl Gene

ENSMUSG00000027971

Gene Name

N-deacetylase/N-sulfotransferase (heparin glucosaminyl) 4

Synonyms

MMRRC Submission

038300-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.099) question?

Stock #

R0004 (G1)

Quality Score

170

Status

Not validated

Chromosome

Chromosomal Location

125404076-125728899 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 125570826 bp

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 384 (M384K)

Ref Sequence

ENSEMBL: ENSMUSP00000133341 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000173932]

Predicted Effect

unknown
Transcript: ENSMUST00000144344
AA Change: M74K

SMART Domains

Protein: ENSMUSP00000120687
Gene: ENSMUSG00000027971
AA Change: M74K

Domain	Start	End	E-Value	Type
Pfam:HSNSD	19	505	1.3e-270	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000147016

Predicted Effect

probably benign
Transcript: ENSMUST00000173932
AA Change: M384K

PolyPhen 2 Score 0.030 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000133341
Gene: ENSMUSG00000027971
AA Change: M384K

Domain	Start	End	E-Value	Type
Pfam:HSNSD	20	505	1.2e-251	PFAM
Pfam:Sulfotransfer_1	594	857	1.2e-43	PFAM

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.1%
20x: 95.1%

Validation Efficiency

98% (63/64)

MGI Phenotype

PHENOTYPE: Mice homozygous for a knock-out allele exhibit a phenotype restricted to the colonic epithelium that includes an increased number of colon goblet cells, a decreased number of colonocytes, and increased apoptosis of colonic epithelial cells in the proximal colon. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adal	T	C	2: 121,152,485	I86T	probably damaging	Het
Aff3	T	C	1: 38,269,726	D376G	possibly damaging	Het
Akap11	A	T	14: 78,514,940	H164Q	possibly damaging	Het
Akap12	A	T	10: 4,353,220	D10V	probably damaging	Het
Arhgap32	T	C	9: 32,151,998	V101A	probably damaging	Het
Atm	A	T	9: 53,453,528		probably benign	Het
Ccdc18	A	G	5: 108,161,700	D387G	possibly damaging	Het
Ccdc38	A	T	10: 93,574,102	Q261L	probably damaging	Het
Cd180	T	G	13: 102,702,708	V33G	probably benign	Het
Cd207	G	A	6: 83,674,248	Q242*	probably null	Het
Cnp	T	C	11: 100,576,807	F192S	probably damaging	Het
Colec10	G	T	15: 54,410,875	R33L	possibly damaging	Het
Csn1s1	A	T	5: 87,671,531	M16L	probably benign	Het
Dnah10	A	T	5: 124,726,902	M98L	probably benign	Het
Dnah17	T	C	11: 118,060,092	I2902V	possibly damaging	Het
Dtnb	A	G	12: 3,596,635		probably benign	Het
Epha5	T	C	5: 84,331,842	Y101C	probably damaging	Het
Ephb2	T	A	4: 136,657,524	M860L	probably damaging	Het
Fbxw18	T	C	9: 109,701,313	T77A	probably damaging	Het
Fgfbp3	A	G	19: 36,918,682	S179P	possibly damaging	Het
Foxp2	A	G	6: 15,197,096	T45A	possibly damaging	Het
Gckr	A	T	5: 31,297,589		probably benign	Het
Glce	T	A	9: 62,068,579	Q213L	probably damaging	Het
Gm1965	A	C	6: 89,146,487	H84P	unknown	Het
Hbegf	A	G	18: 36,507,506	V166A	probably damaging	Het
Helb	G	T	10: 120,108,981	H217N	probably damaging	Het
Ino80	G	A	2: 119,382,960	R1249C	probably damaging	Het
Kansl2	A	G	15: 98,520,376	L392P	probably damaging	Het
Klra1	A	T	6: 130,372,873	Y201N	probably damaging	Het
Klra3	A	G	6: 130,323,687	S240P	probably damaging	Het
Liph	T	A	16: 21,984,194	R42*	probably null	Het
Lrp1	A	T	10: 127,541,825		probably null	Het
Luc7l2	A	T	6: 38,589,234	K52M	probably damaging	Het
Mecom	G	A	3: 29,979,911	P215S	probably damaging	Het
Myo1g	T	A	11: 6,515,901	T395S	probably damaging	Het
Ndufb2	C	T	6: 39,596,504	T51I	possibly damaging	Het
Nell1	C	A	7: 50,560,759		probably benign	Het
Olfr639	A	T	7: 104,012,431	N90K	probably benign	Het
Oxr1	G	A	15: 41,820,540	S434N	possibly damaging	Het
Pcdhac2	T	A	18: 37,145,237	S423R	probably benign	Het
Pcdhb10	T	A	18: 37,411,959	D29E	probably benign	Het
Pde10a	A	G	17: 8,981,576	T1053A	probably benign	Het
Pkdrej	T	A	15: 85,818,183	H1184L	probably damaging	Het
Prkaa2	C	T	4: 105,047,091	R263Q	probably null	Het
Prmt9	A	G	8: 77,555,782	I103V	possibly damaging	Het
Rbm15b	T	C	9: 106,884,936	T678A	probably benign	Het
Ryr2	T	C	13: 11,665,919	Y3180C	probably benign	Het
Scaf1	T	C	7: 45,007,670		probably benign	Het
Scn7a	T	A	2: 66,687,795	N1024I	possibly damaging	Het
Sec23b	T	C	2: 144,564,562		probably benign	Het
Sf1	C	A	19: 6,374,191	P417Q	probably damaging	Het
Slc4a3	A	T	1: 75,557,009		probably benign	Het
Stk32a	T	C	18: 43,305,056	W207R	probably damaging	Het
Syne1	A	T	10: 5,443,132		probably benign	Het
Tecta	A	T	9: 42,345,478	V1634E	possibly damaging	Het
Tenm2	A	G	11: 36,023,357	F2450S	probably damaging	Het
Tgfb1	T	C	7: 25,692,366		probably benign	Het
Tpgs2	A	G	18: 25,158,238		probably benign	Het
Washc5	A	G	15: 59,367,467	M149T	probably damaging	Het
Wrn	A	T	8: 33,317,560	V290D	probably damaging	Het
Zbtb41	A	G	1: 139,442,888	T688A	possibly damaging	Het
Zfp560	C	T	9: 20,347,967	C533Y	probably damaging	Het
Zfp791	G	A	8: 85,110,866	A123V	probably benign	Het

Other mutations in Ndst4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00920:Ndst4	APN	3	125438211	missense	probably damaging	0.98
IGL00926:Ndst4	APN	3	125561453	missense	probably benign	0.01
IGL01292:Ndst4	APN	3	125438754	missense	probably damaging	1.00
IGL01797:Ndst4	APN	3	125683153	missense	probably damaging	0.99
R0118:Ndst4	UTSW	3	125611561	nonsense	probably null
R0652:Ndst4	UTSW	3	125611539	missense	possibly damaging	0.93
R1437:Ndst4	UTSW	3	125561450	missense	probably damaging	0.97
R1502:Ndst4	UTSW	3	125437758	start gained	probably benign
R1900:Ndst4	UTSW	3	125697895	splice site	probably null
R1960:Ndst4	UTSW	3	125438682	nonsense	probably null
R2249:Ndst4	UTSW	3	125438174	missense	probably benign	0.16
R2334:Ndst4	UTSW	3	125708176	missense	possibly damaging	0.86
R2345:Ndst4	UTSW	3	125708120	missense	possibly damaging	0.95
R3617:Ndst4	UTSW	3	125438133	missense	probably benign	0.00
R3713:Ndst4	UTSW	3	125561505	missense	possibly damaging	0.93
R3715:Ndst4	UTSW	3	125561505	missense	possibly damaging	0.93
R3954:Ndst4	UTSW	3	125437905	missense	probably benign	0.01
R4013:Ndst4	UTSW	3	125683170	missense	probably damaging	1.00
R4035:Ndst4	UTSW	3	125438736	missense	probably damaging	1.00
R4085:Ndst4	UTSW	3	125609482	missense	probably benign
R4496:Ndst4	UTSW	3	125683273	missense	probably damaging	1.00
R4498:Ndst4	UTSW	3	125438358	missense	probably damaging	1.00
R5187:Ndst4	UTSW	3	125437911	missense	probably damaging	0.98
R5233:Ndst4	UTSW	3	125710117	missense	probably damaging	1.00
R5518:Ndst4	UTSW	3	125438456	missense	probably benign
R5575:Ndst4	UTSW	3	125437830	missense	probably benign	0.41
R5687:Ndst4	UTSW	3	125438609	missense	possibly damaging	0.79
R5940:Ndst4	UTSW	3	125561419	splice site	probably benign
R6027:Ndst4	UTSW	3	125713376	missense	probably benign	0.38
R6406:Ndst4	UTSW	3	125438501	missense	probably benign
R6540:Ndst4	UTSW	3	125722152	nonsense	probably null
R6941:Ndst4	UTSW	3	125609511	missense	possibly damaging	0.93
R7108:Ndst4	UTSW	3	125561471	missense	probably damaging	0.96
R7269:Ndst4	UTSW	3	125438358	missense	probably damaging	1.00
R7278:Ndst4	UTSW	3	125438303	missense	probably benign	0.00
R7345:Ndst4	UTSW	3	125714659	missense	probably benign	0.07
R7405:Ndst4	UTSW	3	125683216	missense	probably benign
R7418:Ndst4	UTSW	3	125708151	missense	probably damaging	0.99
R7592:Ndst4	UTSW	3	125570787	missense	probably damaging	0.99
R7714:Ndst4	UTSW	3	125570844	missense	probably benign	0.08
X0027:Ndst4	UTSW	3	125437946	missense	probably benign

Predicted Primers

Posted On

2013-05-09