Mutagenetix > Incidental Mutation

Incidental Mutation 'R2345:Ndst4'

245973

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: 0.072) question?

Stock #

R2345 (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 125501769 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 111 (S111P)

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: S619P

PolyPhen 2 Score 0.603 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000133341
Gene: ENSMUSG00000027971
AA Change: S619P

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: S111P

PolyPhen 2 Score 0.954 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000133575
Gene: ENSMUSG00000027971
AA Change: S111P

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

Meta Mutation Damage Score

0.1546

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.2%

Validation Efficiency

100% (30/30)

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: 28 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Atxn3	A	T	12: 101,914,580 (GRCm39)	M48K	probably damaging	Het
Bnc2	T	C	4: 84,210,740 (GRCm39)	E638G	probably damaging	Het
Cdh15	G	A	8: 123,583,374 (GRCm39)	R59H	probably benign	Het
Ceacam3	T	G	7: 16,888,925 (GRCm39)	D231E	possibly damaging	Het
Ckb	G	A	12: 111,638,238 (GRCm39)	T52I	probably damaging	Het
Elac2	T	C	11: 64,891,900 (GRCm39)	M773T	probably damaging	Het
Fbxw8	A	T	5: 118,203,872 (GRCm39)		probably benign	Het
Hk3	T	C	13: 55,156,806 (GRCm39)	D582G	probably damaging	Het
Htt	T	A	5: 34,983,348 (GRCm39)	N982K	possibly damaging	Het
Jag2	T	C	12: 112,872,684 (GRCm39)	E1190G	probably damaging	Het
Kcnc1	A	G	7: 46,047,370 (GRCm39)	E90G	probably damaging	Het
Kynu	A	C	2: 43,471,397 (GRCm39)	Y71S	probably damaging	Het
Lonrf1	A	T	8: 36,690,016 (GRCm39)		probably null	Het
Mfsd4b3-ps	T	A	10: 39,824,069 (GRCm39)	M64L	probably benign	Het
Nbea	A	T	3: 55,992,700 (GRCm39)	F302Y	probably damaging	Het
Nsf	C	T	11: 103,821,578 (GRCm39)	E26K	possibly damaging	Het
Or1f19	G	A	16: 3,411,003 (GRCm39)	V248M	probably damaging	Het
Or5m8	A	G	2: 85,822,166 (GRCm39)	T2A	probably benign	Het
Or8b57	T	G	9: 40,003,849 (GRCm39)	I138L	probably benign	Het
Phf3	G	T	1: 30,844,432 (GRCm39)	S1509*	probably null	Het
Plekhh1	A	T	12: 79,100,421 (GRCm39)	I130F	probably damaging	Het
Shroom3	G	T	5: 93,090,945 (GRCm39)	V1151F	probably damaging	Het
Szt2	A	G	4: 118,238,594 (GRCm39)	F1953S	unknown	Het
Togaram1	T	A	12: 65,055,406 (GRCm39)	S1466T	probably benign	Het
Tox2	T	C	2: 163,161,518 (GRCm39)	Y348H	probably damaging	Het
Vmn2r129	T	A	4: 156,689,334 (GRCm39)		noncoding transcript	Het
Wdr90	G	T	17: 26,078,136 (GRCm39)	H411N	probably benign	Het
Yme1l1	C	T	2: 23,084,798 (GRCm39)	T632I	probably damaging	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
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'- AATTCTGCATTGACTGTGCCTC -3'
(R):5'- TGCAGATGCCATGCACACATC -3'

Sequencing Primer
(F):5'- CATCCACTTTACTTTGGCTATGTAG -3'
(R):5'- GCCATGCACACATCTGTAATTG -3'

Posted On

2014-10-30