Mutagenetix > Incidental Mutations

Incidental Mutation 'R3713:Ndst4'

259720

Institutional Source

Beutler Lab

Gene Symbol

Ndst4

Ensembl Gene

ENSMUSG00000027971

Gene Name

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

Synonyms

MMRRC Submission

040706-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.094) question?

Stock #

R3713 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

125404076-125728899 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 125561505 bp

Zygosity

Heterozygous

Amino Acid Change

Histidine to Leucine at position 354 (H354L)

Ref Sequence

ENSEMBL: ENSMUSP00000133341 (fasta)

Gene Model

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

Predicted Effect

unknown
Transcript: ENSMUST00000144344
AA Change: H44L

SMART Domains

Protein: ENSMUSP00000120687
Gene: ENSMUSG00000027971
AA Change: H44L

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000147016

Predicted Effect

possibly damaging
Transcript: ENSMUST00000173932
AA Change: H354L

PolyPhen 2 Score 0.931 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000133341
Gene: ENSMUSG00000027971
AA Change: H354L

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

0.4595

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 97.0%
20x: 94.0%

Validation Efficiency

100% (67/67)

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: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310079G19Rik	T	C	16: 88,627,193	M137V	probably benign	Het
Aak1	T	A	6: 86,955,190	I381N	probably benign	Het
Abcd4	C	T	12: 84,611,759	M223I	probably benign	Het
Adgrf2	A	G	17: 42,713,088	V164A	probably damaging	Het
Ahdc1	G	A	4: 133,065,986	A1513T	possibly damaging	Het
Akap13	T	C	7: 75,586,181	M168T	probably damaging	Het
Aox1	C	T	1: 58,056,215	T196I	probably benign	Het
Aqr	A	G	2: 114,118,669		probably benign	Het
Astn1	A	G	1: 158,667,532	E1042G	possibly damaging	Het
Azi2	A	G	9: 118,047,440	D8G	possibly damaging	Het
Bcam	T	C	7: 19,764,193	T302A	probably benign	Het
Cct6b	A	T	11: 82,760,357	I110N	probably damaging	Het
Cd109	CATTTATTTATTTATTTATTTATTTATTTATTTAT	CATTTATTTATTTATTTATTTATTTATTTATTTATTTAT	9: 78,712,500		probably benign	Het
Ceacam5	G	A	7: 17,759,338	S762N	possibly damaging	Het
Cecr2	T	C	6: 120,758,260	L819P	probably damaging	Het
Cers3	G	T	7: 66,786,075	A261S	probably benign	Het
Chd2	A	G	7: 73,471,790		probably benign	Het
Col7a1	G	T	9: 108,964,440	G1357*	probably null	Het
Cux1	A	G	5: 136,565,543		probably benign	Het
Cwh43	A	T	5: 73,438,492	I535F	probably damaging	Het
Dexi	A	T	16: 10,542,689	M1K	probably null	Het
Dnah12	T	C	14: 26,812,790	V2081A	probably benign	Het
Efcab5	A	T	11: 77,116,182	L872Q	probably damaging	Het
Enpp7	A	G	11: 118,990,518	Y163C	probably damaging	Het
Fam221a	T	C	6: 49,372,614	Y38H	probably damaging	Het
Foxred1	A	G	9: 35,210,890	M1T	probably null	Het
Fscn3	C	T	6: 28,428,092	T26I	possibly damaging	Het
Galp	A	T	7: 6,213,837	D72V	probably damaging	Het
Gm9843	A	G	16: 76,403,531		noncoding transcript	Het
Grm7	G	T	6: 110,646,348	V161F	probably damaging	Het
Lmbrd1	T	C	1: 24,692,995	Y98H	probably damaging	Het
Lrrc63	T	G	14: 75,107,336	Y437S	probably benign	Het
Macc1	A	G	12: 119,446,841	E448G	probably benign	Het
Madcam1	A	G	10: 79,668,360	H404R	probably benign	Het
Mink1	G	T	11: 70,608,950	R773L	possibly damaging	Het
Mroh2b	A	G	15: 4,943,649	I1045V	probably benign	Het
Mroh3	T	C	1: 136,185,976	T692A	probably benign	Het
Myo15	A	T	11: 60,479,231	E939V	possibly damaging	Het
Naip2	A	G	13: 100,161,902	F542S	probably damaging	Het
Napsa	A	G	7: 44,581,428	Y73C	probably damaging	Het
Neil1	A	T	9: 57,146,970	V22E	probably damaging	Het
Nol4	T	C	18: 23,039,937	I36V	probably damaging	Het
Nprl3	G	A	11: 32,255,464	T111I	probably damaging	Het
Olfr1184	C	A	2: 88,487,443	T237N	probably damaging	Het
Olfr361	A	G	2: 37,085,505	M81T	possibly damaging	Het
Olfr385	A	T	11: 73,588,905	Y278N	probably damaging	Het
Pald1	G	A	10: 61,342,365	T624I	possibly damaging	Het
Pcdhb13	C	T	18: 37,443,733	P388L	probably damaging	Het
Pcdhga6	T	C	18: 37,707,923	V232A	probably damaging	Het
Pde6b	A	G	5: 108,423,062	I388V	probably damaging	Het
Phactr2	C	A	10: 13,388,732		probably benign	Het
Prdx5	T	C	19: 6,908,109	D56G	probably damaging	Het
Ptprh	A	T	7: 4,571,970	I350N	probably damaging	Het
Rangap1	C	A	15: 81,710,460	E389D	probably benign	Het
Reln	A	G	5: 21,904,734	V3126A	probably damaging	Het
Rpl21	G	A	5: 146,835,037	G59S	possibly damaging	Het
Rsph6a	G	A	7: 19,057,550	V215M	probably damaging	Het
Smcp	T	C	3: 92,584,124	K139E	unknown	Het
Stag1	A	G	9: 100,889,618	T699A	probably benign	Het
Tarsl2	G	A	7: 65,688,952		probably null	Het
Tle1	G	T	4: 72,126,422	H459Q	possibly damaging	Het
Ttn	G	A	2: 76,731,019	P27302S	probably damaging	Het
Ttn	C	T	2: 76,741,266	V26428I	probably damaging	Het
Usp53	T	C	3: 122,949,319	E656G	probably benign	Het
Vmn1r218	A	T	13: 23,136,911	N63Y	probably damaging	Het
Vmn1r79	A	G	7: 12,176,212	N40S	possibly damaging	Het
Wdr35	A	G	12: 9,027,648	D1107G	possibly damaging	Het
Zfp101	A	G	17: 33,381,906	M292T	probably benign	Het
Zfp108	T	A	7: 24,261,845	C620*	probably null	Het
Zscan4b	T	C	7: 10,901,891	T170A	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
R0004:Ndst4	UTSW	3	125570826	missense	probably benign	0.03
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
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

PCR Primer
(F):5'- GGCTCACTAAGGCTCTTATTGTTTC -3'
(R):5'- ACTTGGCACCGTGATGATGG -3'

Sequencing Primer
(F):5'- TCTCTCATGCACACACACTG -3'
(R):5'- ACCGTGATGATGGTTCCTCTTACAG -3'

Posted On

2015-01-23