Mutagenetix > Incidental Mutation

Incidental Mutation 'R2334:Ndst4'

246515

Institutional Source

Beutler Lab

Gene Symbol

Ndst4

Ensembl Gene

ENSMUSG00000027971

Gene Name

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

Synonyms

4930439H17Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.068) question?

Stock #

R2334 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

125197725-125522548 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 125501825 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 129 (N129K)

Ref Sequence

ENSEMBL: ENSMUSP00000133575 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000173932] [ENSMUST00000174648] [ENSMUST00000198101]

AlphaFold

Q9EQW8

Predicted Effect

possibly damaging
Transcript: ENSMUST00000173932
AA Change: N637K

PolyPhen 2 Score 0.738 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000133341
Gene: ENSMUSG00000027971
AA Change: N637K

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000174648
AA Change: N129K

PolyPhen 2 Score 0.861 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000133575
Gene: ENSMUSG00000027971
AA Change: N129K

Domain	Start	End	E-Value	Type
Pfam:Sulfotransfer_1	86	349	6.6e-44	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000198101

SMART Domains

Protein: ENSMUSP00000142414
Gene: ENSMUSG00000027971

Domain	Start	End	E-Value	Type
Pfam:Sulfotransfer_1	3	148	7e-22	PFAM

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.0%

Validation Efficiency

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: 23 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadacl4fm1	A	G	4: 144,255,429 (GRCm39)	K283R	probably damaging	Het
Ceacam20	T	C	7: 19,705,516 (GRCm39)	F169S	probably damaging	Het
Clint1	A	G	11: 45,799,855 (GRCm39)	Q556R	probably damaging	Het
Cpa5	G	A	6: 30,624,605 (GRCm39)	W148*	probably null	Het
Cryz	C	T	3: 154,327,828 (GRCm39)	A310V	probably benign	Het
Dlk1	T	C	12: 109,419,614 (GRCm39)	V10A	probably damaging	Het
Fbxw16	T	G	9: 109,267,429 (GRCm39)	L267F	probably benign	Het
Frmpd1	T	C	4: 45,285,408 (GRCm39)	S1410P	probably damaging	Het
Itgb4	A	T	11: 115,884,261 (GRCm39)	I982F	probably damaging	Het
Lrrfip2	G	A	9: 111,048,793 (GRCm39)	C250Y	probably benign	Het
Mia3	A	G	1: 183,115,256 (GRCm39)		probably null	Het
Mlh3	T	A	12: 85,314,851 (GRCm39)	D445V	probably benign	Het
Nlrp2	T	A	7: 5,340,534 (GRCm39)	E93D	probably benign	Het
Olfm3	T	A	3: 114,895,608 (GRCm39)	Y163*	probably null	Het
Or2ak5	A	T	11: 58,611,288 (GRCm39)	Y195*	probably null	Het
Or5p59	C	T	7: 107,702,555 (GRCm39)	T13I	probably benign	Het
Pdzph1	A	G	17: 59,229,644 (GRCm39)	S1005P	probably damaging	Het
Slc46a2	G	A	4: 59,914,150 (GRCm39)	P258S	possibly damaging	Het
Trappc9	G	A	15: 72,897,816 (GRCm39)	R377W	probably damaging	Het
Ttn	T	C	2: 76,556,138 (GRCm39)	E21962G	possibly damaging	Het
Unc13a	T	C	8: 72,087,202 (GRCm39)	D1515G	probably damaging	Het
Vmn2r70	T	C	7: 85,208,800 (GRCm39)	N559S	probably benign	Het
Wwp1	A	T	4: 19,662,032 (GRCm39)	I158K	probably benign	Het

Other mutations in Ndst4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00920:Ndst4	APN	3	125,231,860 (GRCm39)	missense	probably damaging	0.98
IGL00926:Ndst4	APN	3	125,355,102 (GRCm39)	missense	probably benign	0.01
IGL01292:Ndst4	APN	3	125,232,403 (GRCm39)	missense	probably damaging	1.00
IGL01797:Ndst4	APN	3	125,476,802 (GRCm39)	missense	probably damaging	0.99
R0004:Ndst4	UTSW	3	125,364,475 (GRCm39)	missense	probably benign	0.03
R0118:Ndst4	UTSW	3	125,405,210 (GRCm39)	nonsense	probably null
R0652:Ndst4	UTSW	3	125,405,188 (GRCm39)	missense	possibly damaging	0.93
R1437:Ndst4	UTSW	3	125,355,099 (GRCm39)	missense	probably damaging	0.97
R1502:Ndst4	UTSW	3	125,231,407 (GRCm39)	start gained	probably benign
R1900:Ndst4	UTSW	3	125,491,544 (GRCm39)	splice site	probably null
R1960:Ndst4	UTSW	3	125,232,331 (GRCm39)	nonsense	probably null
R2249:Ndst4	UTSW	3	125,231,823 (GRCm39)	missense	probably benign	0.16
R2345:Ndst4	UTSW	3	125,501,769 (GRCm39)	missense	possibly damaging	0.95
R3617:Ndst4	UTSW	3	125,231,782 (GRCm39)	missense	probably benign	0.00
R3713:Ndst4	UTSW	3	125,355,154 (GRCm39)	missense	possibly damaging	0.93
R3715:Ndst4	UTSW	3	125,355,154 (GRCm39)	missense	possibly damaging	0.93
R3954:Ndst4	UTSW	3	125,231,554 (GRCm39)	missense	probably benign	0.01
R4013:Ndst4	UTSW	3	125,476,819 (GRCm39)	missense	probably damaging	1.00
R4035:Ndst4	UTSW	3	125,232,385 (GRCm39)	missense	probably damaging	1.00
R4085:Ndst4	UTSW	3	125,403,131 (GRCm39)	missense	probably benign
R4496:Ndst4	UTSW	3	125,476,922 (GRCm39)	missense	probably damaging	1.00
R4498:Ndst4	UTSW	3	125,232,007 (GRCm39)	missense	probably damaging	1.00
R5187:Ndst4	UTSW	3	125,231,560 (GRCm39)	missense	probably damaging	0.98
R5233:Ndst4	UTSW	3	125,503,766 (GRCm39)	missense	probably damaging	1.00
R5518:Ndst4	UTSW	3	125,232,105 (GRCm39)	missense	probably benign
R5575:Ndst4	UTSW	3	125,231,479 (GRCm39)	missense	probably benign	0.41
R5687:Ndst4	UTSW	3	125,232,258 (GRCm39)	missense	possibly damaging	0.79
R5940:Ndst4	UTSW	3	125,355,068 (GRCm39)	splice site	probably benign
R6027:Ndst4	UTSW	3	125,507,025 (GRCm39)	missense	probably benign	0.38
R6406:Ndst4	UTSW	3	125,232,150 (GRCm39)	missense	probably benign
R6540:Ndst4	UTSW	3	125,515,801 (GRCm39)	nonsense	probably null
R6941:Ndst4	UTSW	3	125,403,160 (GRCm39)	missense	possibly damaging	0.93
R7108:Ndst4	UTSW	3	125,355,120 (GRCm39)	missense	probably damaging	0.96
R7269:Ndst4	UTSW	3	125,232,007 (GRCm39)	missense	probably damaging	1.00
R7278:Ndst4	UTSW	3	125,231,952 (GRCm39)	missense	probably benign	0.00
R7345:Ndst4	UTSW	3	125,508,308 (GRCm39)	missense	probably benign	0.07
R7405:Ndst4	UTSW	3	125,476,865 (GRCm39)	missense	probably benign
R7418:Ndst4	UTSW	3	125,501,800 (GRCm39)	missense	probably damaging	0.99
R7592:Ndst4	UTSW	3	125,364,436 (GRCm39)	missense	probably damaging	0.99
R7714:Ndst4	UTSW	3	125,364,493 (GRCm39)	missense	probably benign	0.08
R7955:Ndst4	UTSW	3	125,231,831 (GRCm39)	nonsense	probably null
R8070:Ndst4	UTSW	3	125,508,293 (GRCm39)	missense	probably damaging	1.00
R8412:Ndst4	UTSW	3	125,364,439 (GRCm39)	missense	possibly damaging	0.76
R8553:Ndst4	UTSW	3	125,503,756 (GRCm39)	missense	probably damaging	1.00
R8744:Ndst4	UTSW	3	125,506,989 (GRCm39)	missense	possibly damaging	0.94
R8933:Ndst4	UTSW	3	125,405,155 (GRCm39)	missense	probably damaging	0.99
R8940:Ndst4	UTSW	3	125,474,802 (GRCm39)	start gained	probably benign
R8984:Ndst4	UTSW	3	125,515,810 (GRCm39)	missense	probably damaging	1.00
R9147:Ndst4	UTSW	3	125,231,722 (GRCm39)	missense	probably damaging	1.00
R9148:Ndst4	UTSW	3	125,231,722 (GRCm39)	missense	probably damaging	1.00
R9194:Ndst4	UTSW	3	125,518,385 (GRCm39)	missense	probably benign	0.19
R9196:Ndst4	UTSW	3	125,518,385 (GRCm39)	missense	probably benign	0.19
R9202:Ndst4	UTSW	3	125,518,385 (GRCm39)	missense	probably benign	0.19
R9203:Ndst4	UTSW	3	125,518,385 (GRCm39)	missense	probably benign	0.19
R9217:Ndst4	UTSW	3	125,518,385 (GRCm39)	missense	probably benign	0.19
R9311:Ndst4	UTSW	3	125,518,385 (GRCm39)	missense	probably benign	0.19
R9355:Ndst4	UTSW	3	125,403,246 (GRCm39)	missense	probably damaging	1.00
R9402:Ndst4	UTSW	3	125,518,385 (GRCm39)	missense	probably benign	0.19
R9415:Ndst4	UTSW	3	125,518,385 (GRCm39)	missense	probably benign	0.19
R9475:Ndst4	UTSW	3	125,508,296 (GRCm39)	nonsense	probably null
R9544:Ndst4	UTSW	3	125,476,808 (GRCm39)	missense	probably damaging	1.00
R9588:Ndst4	UTSW	3	125,476,808 (GRCm39)	missense	probably damaging	1.00
R9626:Ndst4	UTSW	3	125,476,829 (GRCm39)	missense	probably damaging	1.00
R9640:Ndst4	UTSW	3	125,232,196 (GRCm39)	missense	probably damaging	0.99
R9691:Ndst4	UTSW	3	125,518,344 (GRCm39)	missense	unknown
R9716:Ndst4	UTSW	3	125,232,211 (GRCm39)	missense	probably damaging	1.00
X0027:Ndst4	UTSW	3	125,231,595 (GRCm39)	missense	probably benign
Z1177:Ndst4	UTSW	3	125,364,389 (GRCm39)	critical splice acceptor site	probably null

Predicted Primers

PCR Primer
(F):5'- CATCCACTTTACTTTGGCTATGTAG -3'
(R):5'- TCAGGCATCACCGTGAAGAC -3'

Sequencing Primer
(F):5'- AATGATGGAAAGAATTGGTCTACTG -3'
(R):5'- GCATCACCGTGAAGACAAATTATATG -3'

Posted On

2014-10-30