Mutagenetix > Incidental Mutations

Incidental Mutation 'R7704:Nsd2'

594178

Institutional Source

Beutler Lab

Gene Symbol

Nsd2

Ensembl Gene

ENSMUSG00000057406

Gene Name

nuclear receptor binding SET domain protein 2

Synonyms

5830445G22Rik, Whsc1, Whsc1l, C130020C13Rik, 9430010A17Rik, D030027O06Rik, D930023B08Rik

MMRRC Submission

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.886) question?

Stock #

R7704 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

33820725-33897975 bp(+) (GRCm38)

Type of Mutation

makesense

DNA Base Change (assembly)

T to C at 33871467 bp

Zygosity

Heterozygous

Amino Acid Change

Stop codon to Glutamine at position 167 (*167Q)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000058096] [ENSMUST00000066854] [ENSMUST00000075812] [ENSMUST00000114397] [ENSMUST00000114399] [ENSMUST00000137191] [ENSMUST00000139845]

Predicted Effect

probably benign
Transcript: ENSMUST00000058096

SMART Domains

Protein: ENSMUSP00000058940
Gene: ENSMUSG00000057406

Domain	Start	End	E-Value	Type
low complexity region	12	23	N/A	INTRINSIC
PWWP	220	285	3.84e-15	SMART
low complexity region	397	408	N/A	INTRINSIC
HMG	452	522	7.64e-9	SMART
low complexity region	532	545	N/A	INTRINSIC
low complexity region	629	643	N/A	INTRINSIC
PHD	669	711	1.36e-6	SMART
RING	670	710	1.5e1	SMART
PHD	716	763	6.81e-1	SMART
RING	717	762	5.25e-2	SMART
PHD	833	873	2.35e-10	SMART
PWWP	878	940	2.67e-23	SMART
AWS	1011	1062	3.74e-27	SMART
SET	1063	1186	4.48e-43	SMART
PostSET	1187	1203	7.56e-4	SMART
low complexity region	1215	1236	N/A	INTRINSIC
PHD	1241	1284	1.98e-8	SMART
low complexity region	1347	1360	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000066854

SMART Domains

Protein: ENSMUSP00000067205
Gene: ENSMUSG00000057406

Domain	Start	End	E-Value	Type
low complexity region	12	23	N/A	INTRINSIC
PWWP	220	285	3.84e-15	SMART
low complexity region	397	408	N/A	INTRINSIC
HMG	452	522	7.64e-9	SMART
low complexity region	532	545	N/A	INTRINSIC
low complexity region	630	644	N/A	INTRINSIC
PHD	670	712	1.36e-6	SMART
RING	671	711	1.5e1	SMART
PHD	717	764	6.81e-1	SMART
RING	718	763	5.25e-2	SMART
PHD	834	874	2.35e-10	SMART
PWWP	879	941	2.67e-23	SMART
AWS	1012	1063	3.74e-27	SMART
SET	1064	1187	4.48e-43	SMART
PostSET	1188	1204	7.56e-4	SMART
low complexity region	1216	1237	N/A	INTRINSIC
PHD	1242	1285	1.98e-8	SMART
low complexity region	1348	1361	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000075812

SMART Domains

Protein: ENSMUSP00000075210
Gene: ENSMUSG00000057406

Domain	Start	End	E-Value	Type
low complexity region	12	23	N/A	INTRINSIC
PWWP	220	285	3.84e-15	SMART
low complexity region	397	408	N/A	INTRINSIC
HMG	452	522	7.64e-9	SMART
low complexity region	532	545	N/A	INTRINSIC
low complexity region	630	644	N/A	INTRINSIC
PHD	670	712	1.36e-6	SMART
RING	671	711	1.5e1	SMART
PHD	717	764	6.81e-1	SMART
RING	718	763	5.25e-2	SMART
PHD	834	874	2.35e-10	SMART
PWWP	879	941	2.67e-23	SMART
AWS	1012	1063	3.74e-27	SMART
SET	1064	1187	4.48e-43	SMART
PostSET	1188	1204	7.56e-4	SMART
low complexity region	1216	1237	N/A	INTRINSIC
PHD	1242	1285	1.98e-8	SMART
low complexity region	1348	1361	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000114397

SMART Domains

Protein: ENSMUSP00000110039
Gene: ENSMUSG00000057406

Domain	Start	End	E-Value	Type
low complexity region	12	23	N/A	INTRINSIC
Pfam:PWWP	220	332	4.7e-26	PFAM
low complexity region	397	408	N/A	INTRINSIC
HMG	452	522	7.64e-9	SMART
low complexity region	532	545	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000114399
AA Change: *648Q

SMART Domains

Protein: ENSMUSP00000110041
Gene: ENSMUSG00000057406
AA Change: *648Q

Domain	Start	End	E-Value	Type
low complexity region	12	23	N/A	INTRINSIC
Pfam:PWWP	220	332	4.9e-26	PFAM
low complexity region	397	408	N/A	INTRINSIC
HMG	452	522	7.64e-9	SMART
low complexity region	532	545	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000137191
AA Change: *648Q

SMART Domains

Protein: ENSMUSP00000122310
Gene: ENSMUSG00000057406
AA Change: *648Q

Domain	Start	End	E-Value	Type
low complexity region	12	23	N/A	INTRINSIC
Pfam:PWWP	220	332	4.9e-26	PFAM
low complexity region	397	408	N/A	INTRINSIC
HMG	452	522	7.64e-9	SMART
low complexity region	532	545	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000139845
AA Change: *648Q

SMART Domains

Protein: ENSMUSP00000123460
Gene: ENSMUSG00000057406
AA Change: *648Q

Domain	Start	End	E-Value	Type
low complexity region	12	23	N/A	INTRINSIC
Pfam:PWWP	220	332	4.9e-26	PFAM
low complexity region	397	408	N/A	INTRINSIC
HMG	452	522	7.64e-9	SMART
low complexity region	532	545	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000141416

SMART Domains

Protein: ENSMUSP00000117233
Gene: ENSMUSG00000057406

Domain	Start	End	E-Value	Type
Pfam:PWWP	202	314	1.1e-25	PFAM
low complexity region	379	390	N/A	INTRINSIC
HMG	434	504	4.7e-9	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000142080
AA Change: *167Q

SMART Domains

Protein: ENSMUSP00000115251
Gene: ENSMUSG00000057406
AA Change: *167Q

Domain	Start	End	E-Value	Type
Blast:SET	2	148	7e-47	BLAST

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that contains four domains present in other developmental proteins: a PWWP domain, an HMG box, a SET domain, and a PHD-type zinc finger. It is expressed ubiquitously in early development. Wolf-Hirschhorn syndrome (WHS) is a malformation syndrome associated with a hemizygous deletion of the distal short arm of chromosome 4. This gene maps to the 165 kb WHS critical region and has also been involved in the chromosomal translocation t(4;14)(p16.3;q32.3) in multiple myelomas. Alternative splicing of this gene results in multiple transcript variants encoding different isoforms. Some transcript variants are nonsense-mediated mRNA (NMD) decay candidates, hence not represented as reference sequences. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous null mice display reduced fetal size, failed sternum ossification, cleft palate, atrial and ventricular septal defects, stunted growth and postnatal death. Some heterozygotes show severe growth defects, malocclusion, delayed sternum ossification and hypoplasia of the septum secundum. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610507B11Rik	C	A	11: 78,268,744	Q540K	probably benign	Het
Abcc8	C	A	7: 46,106,644	W1458L	probably damaging	Het
Actn4	A	T	7: 28,897,042	I676N	possibly damaging	Het
Adamts10	T	C	17: 33,551,152	C1002R	probably damaging	Het
Agbl2	A	C	2: 90,789,005	N58T	probably benign	Het
Akap12	A	T	10: 4,356,082	D1069V	probably damaging	Het
C87977	C	T	4: 144,208,521	V217I	possibly damaging	Het
Cfap65	T	A	1: 74,928,368	T184S	probably benign	Het
Chd1	T	C	17: 15,767,475	V1517A	probably benign	Het
CN725425	T	A	15: 91,235,790	V38D	possibly damaging	Het
Copg1	T	A	6: 87,907,958	L712Q	probably benign	Het
Ctsf	T	G	19: 4,856,539	F165V	probably damaging	Het
Ddx21	T	C	10: 62,594,086	Y293C	probably damaging	Het
Ddx46	C	T	13: 55,674,019	P839S	probably benign	Het
Dennd5a	A	G	7: 109,896,967	V1164A	possibly damaging	Het
Dync1h1	T	A	12: 110,665,766	I4490N	probably damaging	Het
Ecm1	A	C	3: 95,736,531	Y236D	probably damaging	Het
Fam198a	C	T	9: 121,951,085		probably benign	Het
Fat2	T	C	11: 55,284,347	T1847A	probably benign	Het
Galc	T	A	12: 98,208,843	I567L	probably benign	Het
Gm4858	A	G	3: 93,074,445	I183V	probably benign	Het
H6pd	T	C	4: 149,982,903	D350G	probably benign	Het
Ifi44	A	G	3: 151,732,424	Y409H	probably benign	Het
Kdm5a	T	G	6: 120,427,064	F1210C	probably damaging	Het
Kdm5b	C	T	1: 134,587,931	R98C	probably damaging	Het
Lipt1	T	A	1: 37,875,962	C366*	probably null	Het
Med13	G	A	11: 86,345,918	R138*	probably null	Het
Mterf1a	A	G	5: 3,891,845	C8R	probably benign	Het
Ncapg2	A	T	12: 116,419,277	I243F	probably damaging	Het
Nop58	T	C	1: 59,705,595	S304P	probably damaging	Het
Olfr390	T	G	11: 73,787,790	M284R	probably damaging	Het
Olfr597	T	A	7: 103,320,771	M120K		Het
Olfr721-ps1	T	A	14: 14,407,867	I213N	probably damaging	Het
Prdm16	C	T	4: 154,341,490	G613R	probably damaging	Het
Prss46	T	C	9: 110,849,997	S89P	probably damaging	Het
Scin	T	C	12: 40,124,688	N132S	possibly damaging	Het
Sec14l2	T	C	11: 4,108,574	K196R	probably benign	Het
Sox17	C	A	1: 4,493,672		probably benign	Het
Tango6	A	G	8: 106,698,989	T394A	probably benign	Het
Tbc1d22a	T	A	15: 86,366,675	I398N	probably damaging	Het
Tmem8b	T	C	4: 43,689,461	V285A	probably damaging	Het
Tnfrsf11b	T	A	15: 54,260,101	T35S	probably benign	Het
Unc13c	T	A	9: 73,699,212	I1289F	probably benign	Het
Ust	C	T	10: 8,330,223	V99I	probably benign	Het
Vmn1r76	A	G	7: 11,930,417	V290A	probably benign	Het
Vmn2r50	T	C	7: 10,047,738	N360S	probably benign	Het
Vmn2r93	T	C	17: 18,316,648	I531T	probably benign	Het
Zap70	T	C	1: 36,779,314		probably null	Het
Zfp932	A	G	5: 110,009,764	N443D	probably benign	Het

Other mutations in Nsd2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00391:Nsd2	APN	5	33855733	missense	probably damaging	1.00
IGL00420:Nsd2	APN	5	33883003	missense	possibly damaging	0.82
IGL01343:Nsd2	APN	5	33843578	missense	probably damaging	1.00
IGL01403:Nsd2	APN	5	33885378	splice site	probably benign
IGL01446:Nsd2	APN	5	33861186	splice site	probably benign
IGL01571:Nsd2	APN	5	33864687	missense	probably benign	0.32
IGL01862:Nsd2	APN	5	33843736	missense	probably null	1.00
IGL02040:Nsd2	APN	5	33867571	splice site	probably benign
IGL02528:Nsd2	APN	5	33879051	unclassified	probably benign
IGL02553:Nsd2	APN	5	33846198	missense	probably damaging	1.00
IGL02799:Nsd2	APN	5	33864788	splice site	probably benign
IGL02932:Nsd2	APN	5	33880128	missense	probably damaging	1.00
Navratilova	UTSW	5	33885490	missense	probably damaging	0.97
Tennis	UTSW	5	33843513	missense	probably damaging	1.00
R0136:Nsd2	UTSW	5	33855536	missense	possibly damaging	0.89
R0372:Nsd2	UTSW	5	33891551	missense	probably damaging	0.98
R0521:Nsd2	UTSW	5	33843338	missense	probably damaging	1.00
R0548:Nsd2	UTSW	5	33893538	missense	probably damaging	1.00
R0726:Nsd2	UTSW	5	33861028	unclassified	probably benign
R1018:Nsd2	UTSW	5	33843241	missense	probably damaging	1.00
R1638:Nsd2	UTSW	5	33882120	missense	possibly damaging	0.87
R1649:Nsd2	UTSW	5	33854640	missense	probably damaging	0.98
R1675:Nsd2	UTSW	5	33861149	missense	probably benign	0.04
R1900:Nsd2	UTSW	5	33846169	missense	probably benign
R2001:Nsd2	UTSW	5	33843402	missense	probably damaging	1.00
R2167:Nsd2	UTSW	5	33882919	missense	probably damaging	1.00
R2261:Nsd2	UTSW	5	33885527	missense	probably damaging	1.00
R2966:Nsd2	UTSW	5	33846122	missense	probably benign	0.01
R3931:Nsd2	UTSW	5	33846117	missense	probably benign	0.01
R4429:Nsd2	UTSW	5	33843202	missense	probably damaging	1.00
R4596:Nsd2	UTSW	5	33882918	missense	probably damaging	1.00
R4958:Nsd2	UTSW	5	33892022	missense	probably damaging	1.00
R5346:Nsd2	UTSW	5	33879136	missense	possibly damaging	0.94
R5957:Nsd2	UTSW	5	33855603	missense	probably damaging	1.00
R6054:Nsd2	UTSW	5	33882161	missense	probably damaging	1.00
R6124:Nsd2	UTSW	5	33843266	missense	probably benign	0.08
R6302:Nsd2	UTSW	5	33867577	missense	possibly damaging	0.93
R6390:Nsd2	UTSW	5	33881181	missense	probably damaging	1.00
R6496:Nsd2	UTSW	5	33843513	missense	probably damaging	1.00
R6828:Nsd2	UTSW	5	33893568	missense	probably damaging	0.98
R6925:Nsd2	UTSW	5	33879110	missense	probably damaging	1.00
R7148:Nsd2	UTSW	5	33885511	missense	possibly damaging	0.57
R7311:Nsd2	UTSW	5	33892036	missense	probably damaging	1.00
R7337:Nsd2	UTSW	5	33885472	missense	probably damaging	1.00
R7466:Nsd2	UTSW	5	33882147	nonsense	probably null
R7567:Nsd2	UTSW	5	33846226	missense	probably damaging	0.99
R7822:Nsd2	UTSW	5	33843594	missense	probably damaging	0.97
R7939:Nsd2	UTSW	5	33855589	missense	probably benign	0.22
R8127:Nsd2	UTSW	5	33885490	missense	probably damaging	0.97
R8485:Nsd2	UTSW	5	33882845	missense	probably damaging	1.00
X0020:Nsd2	UTSW	5	33854757	missense	probably damaging	1.00
Z1088:Nsd2	UTSW	5	33855738	critical splice donor site	probably null
Z1177:Nsd2	UTSW	5	33855520	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CTTGCATGACAAAGGCCTGTG -3'
(R):5'- CTCCTCAACGGGAACTTTAGATTG -3'

Sequencing Primer
(F):5'- AGGCCTGTGAAGGAATTGATGTG -3'
(R):5'- ATGGCCTTGATTGAGTATCTTACC -3'

Posted On

2019-11-12