Mutagenetix > Incidental Mutation

Incidental Mutation 'R3617:Ndst4'

268462

Institutional Source

Beutler Lab

Gene Symbol

Ndst4

Ensembl Gene

ENSMUSG00000027971

Gene Name

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

Synonyms

4930439H17Rik

MMRRC Submission

040674-MU

Accession Numbers

Essential gene?

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

Stock #

R3617 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

125197725-125522548 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 125231782 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 117 (I117T)

Ref Sequence

ENSEMBL: ENSMUSP00000133341 (fasta)

Gene Model

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

AlphaFold

Q9EQW8

Predicted Effect

probably benign
Transcript: ENSMUST00000144344

SMART Domains

Protein: ENSMUSP00000120687
Gene: ENSMUSG00000027971

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: I117T

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000133341
Gene: ENSMUSG00000027971
AA Change: I117T

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

Meta Mutation Damage Score

0.1688

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.1%
20x: 94.4%

Validation Efficiency

98% (41/42)

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: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc9	A	G	6: 142,625,015 (GRCm39)	V460A	probably damaging	Het
Aplf	T	C	6: 87,648,865 (GRCm39)	I25V	possibly damaging	Het
Ascc3	A	G	10: 50,494,281 (GRCm39)	T239A	probably benign	Het
Bahd1	G	A	2: 118,753,004 (GRCm39)	R757H	probably damaging	Het
Cbfa2t2	A	T	2: 154,278,904 (GRCm39)		probably benign	Het
Ccdc168	T	C	1: 44,100,114 (GRCm39)	D328G	probably benign	Het
Cdkn1c	C	T	7: 143,013,531 (GRCm39)		probably benign	Het
Cfap46	A	G	7: 139,219,515 (GRCm39)	S1317P	probably benign	Het
Cntln	C	T	4: 84,923,214 (GRCm39)	Q560*	probably null	Het
Cntn2	G	C	1: 132,456,361 (GRCm39)	A161G	probably benign	Het
Crybg1	A	G	10: 43,832,782 (GRCm39)	I1991T	possibly damaging	Het
Cttnbp2	T	C	6: 18,414,189 (GRCm39)	E952G	probably damaging	Het
Dhx36	T	C	3: 62,379,428 (GRCm39)	T887A	possibly damaging	Het
Dhx36	A	G	3: 62,394,481 (GRCm39)	F512L	probably benign	Het
Fthl17f	A	G	X: 8,929,862 (GRCm39)	T153A	probably benign	Het
Gad1-ps	T	A	10: 99,281,260 (GRCm39)		noncoding transcript	Het
Gba2	C	T	4: 43,573,803 (GRCm39)	R163H	probably damaging	Het
Gm10717	A	G	9: 3,025,532 (GRCm39)	Y39C	probably benign	Het
Gm17019	A	T	5: 15,081,081 (GRCm39)	M120K	possibly damaging	Het
Helz2	C	T	2: 180,874,854 (GRCm39)	R1880H	probably damaging	Het
Ifi204	T	C	1: 173,583,283 (GRCm39)	I312V	possibly damaging	Het
Kncn	T	C	4: 115,743,089 (GRCm39)	F55L	probably benign	Het
Kndc1	G	A	7: 139,481,976 (GRCm39)		probably benign	Het
Nat8f3	C	A	6: 85,738,670 (GRCm39)	A31S	probably benign	Het
Ndufa9	G	T	6: 126,826,071 (GRCm39)		probably benign	Het
Nup42	T	C	5: 24,387,325 (GRCm39)	S372P	probably benign	Het
Pde6a	A	G	18: 61,364,575 (GRCm39)		probably benign	Het
Pigw	T	C	11: 84,769,133 (GRCm39)	I65M	probably damaging	Het
Pip	A	G	6: 41,828,871 (GRCm39)	T139A	probably benign	Het
Rel	A	T	11: 23,695,780 (GRCm39)	D202E	probably damaging	Het
Rhot2	A	G	17: 26,059,955 (GRCm39)		probably benign	Het
Sh3rf3	G	A	10: 58,922,685 (GRCm39)	R587Q	possibly damaging	Het
Sim1	T	A	10: 50,785,624 (GRCm39)	M231K	probably damaging	Het
Slc12a9	G	A	5: 137,330,759 (GRCm39)	T47M	probably damaging	Het
Slc4a4	A	G	5: 89,382,663 (GRCm39)	D1036G	probably benign	Het
Tas2r143	A	T	6: 42,377,997 (GRCm39)	I276F	probably benign	Het
Tgfbr3	A	T	5: 107,288,485 (GRCm39)	F392Y	possibly damaging	Het
Tmem266	T	C	9: 55,307,918 (GRCm39)	V148A	probably damaging	Het
Ubiad1	A	G	4: 148,520,817 (GRCm39)	I269T	probably benign	Het
Vwc2l	A	G	1: 70,768,041 (GRCm39)		probably null	Het
Zbtb49	G	A	5: 38,357,975 (GRCm39)		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
R2334:Ndst4	UTSW	3	125,501,825 (GRCm39)	missense	possibly damaging	0.86
R2345:Ndst4	UTSW	3	125,501,769 (GRCm39)	missense	possibly damaging	0.95
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'- ATCGGTCTATAGAGCTGAGAACC -3'
(R):5'- GAGCAGTCCTTCAGAGCTAC -3'

Sequencing Primer
(F):5'- GAGCTGAGAACCATCAAGCCTATTG -3'
(R):5'- AGCAGTCCTTCAGAGCTACGTTATTG -3'

Posted On

2015-02-19