Mutagenetix > Incidental Mutations

Incidental Mutation 'R0511:Nsd3'

46916

Institutional Source

Beutler Lab

Gene Symbol

Nsd3

Ensembl Gene

ENSMUSG00000054823

Gene Name

nuclear receptor binding SET domain protein 3

Synonyms

Whsc1l1, WHISTLE

MMRRC Submission

038705-MU

Accession Numbers

Genbank: NM_001081269, NM_001001735.1; MGI: 2142581; Ensemb: ENSMUST00000155861, ENSMUST00000146919, ENSMUST00000142395, ENSMUST00000139966, ENSMUST00000153597, ENSMUST00000084026, ENSMUST0000017135

Is this an essential gene?

Possibly essential (E-score: 0.507) question?

Stock #

R0511 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

25601601-25719667 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 25678716 bp

Zygosity

Heterozygous

Amino Acid Change

Glycine to Aspartic acid at position 629 (G629D)

Ref Sequence

ENSEMBL: ENSMUSP00000117778 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000084026] [ENSMUST00000136107] [ENSMUST00000139966] [ENSMUST00000142395] [ENSMUST00000146919] [ENSMUST00000155861]

Predicted Effect

possibly damaging
Transcript: ENSMUST00000084026
AA Change: G629D

PolyPhen 2 Score 0.810 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000081040
Gene: ENSMUSG00000054823
AA Change: G629D

Domain	Start	End	E-Value	Type
low complexity region	128	151	N/A	INTRINSIC
low complexity region	193	225	N/A	INTRINSIC
PWWP	278	341	1.6e-12	SMART
low complexity region	680	701	N/A	INTRINSIC
PHD	713	756	4.49e-7	SMART
PHD	761	808	5.82e-1	SMART
PHD	809	861	3.06e0	SMART
PHD	874	963	1e-4	SMART
PWWP	968	1030	8.62e-18	SMART
AWS	1103	1154	2.61e-17	SMART
SET	1155	1278	2.17e-41	SMART
PostSET	1279	1295	2.63e-3	SMART
low complexity region	1309	1326	N/A	INTRINSIC
PHD	1332	1375	4.32e-9	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000136107

Predicted Effect

possibly damaging
Transcript: ENSMUST00000139966
AA Change: G629D

PolyPhen 2 Score 0.810 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000122096
Gene: ENSMUSG00000054823
AA Change: G629D

Domain	Start	End	E-Value	Type
low complexity region	128	151	N/A	INTRINSIC
low complexity region	193	225	N/A	INTRINSIC
PWWP	278	341	1.6e-12	SMART
low complexity region	680	701	N/A	INTRINSIC
PHD	713	756	4.49e-7	SMART
PHD	761	808	5.82e-1	SMART
PHD	809	861	3.06e0	SMART
PHD	874	914	5.24e-8	SMART
PWWP	919	981	8.62e-18	SMART
AWS	1054	1105	2.61e-17	SMART
SET	1106	1229	2.17e-41	SMART
PostSET	1230	1246	2.63e-3	SMART
low complexity region	1260	1277	N/A	INTRINSIC
PHD	1283	1326	4.32e-9	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000141781

Predicted Effect

possibly damaging
Transcript: ENSMUST00000142395
AA Change: G629D

PolyPhen 2 Score 0.810 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000117778
Gene: ENSMUSG00000054823
AA Change: G629D

Domain	Start	End	E-Value	Type
low complexity region	128	151	N/A	INTRINSIC
low complexity region	193	225	N/A	INTRINSIC
PWWP	278	341	1.6e-12	SMART
low complexity region	680	701	N/A	INTRINSIC
PHD	713	756	4.49e-7	SMART
PHD	761	808	5.82e-1	SMART
PHD	809	861	3.06e0	SMART
PHD	874	963	1e-4	SMART
PWWP	968	1030	8.62e-18	SMART
AWS	1103	1154	2.61e-17	SMART
SET	1155	1278	2.17e-41	SMART
PostSET	1279	1295	2.63e-3	SMART
low complexity region	1309	1326	N/A	INTRINSIC
PHD	1332	1375	4.32e-9	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000146919

SMART Domains

Protein: ENSMUSP00000115470
Gene: ENSMUSG00000054823

Domain	Start	End	E-Value	Type
low complexity region	128	151	N/A	INTRINSIC
low complexity region	193	225	N/A	INTRINSIC
Pfam:PWWP	278	388	1.6e-25	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000155861

SMART Domains

Protein: ENSMUSP00000117596
Gene: ENSMUSG00000054823

Domain	Start	End	E-Value	Type
low complexity region	128	151	N/A	INTRINSIC
low complexity region	193	225	N/A	INTRINSIC
Pfam:PWWP	278	388	1.6e-25	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000157551

Meta Mutation Damage Score

0.0852

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.7%
20x: 93.8%

Validation Efficiency

100% (116/116)

MGI Phenotype

FUNCTION: This gene encodes a member of the SET domain family of histone lysine N-methyltransferase proteins. This protein methylates histone H3 at lysine residues 4 and 27, which represses gene transcription. It acts in opposition to the histone demethylase Jmjd1c. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, May 2015]

Allele List at MGI

All alleles(5) : Gene trapped(5)

Other mutations in this stock

Total: 118 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610009O20Rik	T	C	18: 38,254,071		probably null	Het
A630095E13Rik	A	T	9: 36,638,577		probably null	Het
Abca13	G	T	11: 9,294,559	V2141L	probably benign	Het
Adam17	T	C	12: 21,340,458		probably benign	Het
Adam3	A	T	8: 24,695,315	C456S	probably damaging	Het
AI464131	A	G	4: 41,498,538	F364S	probably damaging	Het
Aldh4a1	G	T	4: 139,642,571		probably benign	Het
Anapc4	A	G	5: 52,842,017		probably benign	Het
Ank3	A	T	10: 69,882,368	Q483L	probably damaging	Het
Ankle2	A	G	5: 110,242,059		probably benign	Het
Ankrd13b	T	A	11: 77,473,288	T150S	possibly damaging	Het
Apeh	A	G	9: 108,087,055	M524T	probably benign	Het
Arl14epl	T	A	18: 46,926,417		probably null	Het
Atg2a	T	C	19: 6,252,539	F964S	possibly damaging	Het
Atg2b	C	T	12: 105,617,153	V2050M	probably damaging	Het
Atp2b4	A	T	1: 133,732,218		probably benign	Het
Bbof1	T	A	12: 84,430,271	S512T	probably benign	Het
BC055324	T	C	1: 163,971,843		probably null	Het
C130079G13Rik	A	G	3: 59,936,350	H155R	possibly damaging	Het
Camta1	C	A	4: 151,075,140	R1614L	probably damaging	Het
Car10	T	C	11: 93,490,582	Y100H	probably damaging	Het
Ccdc81	T	A	7: 89,893,296	E124V	probably damaging	Het
Cd84	A	G	1: 171,872,927	T204A	probably benign	Het
Celf2	A	G	2: 6,604,176	S178P	probably damaging	Het
Chat	G	A	14: 32,409,019	T555M	probably damaging	Het
Chd6	A	G	2: 160,992,191	F917S	probably damaging	Het
Chrna2	C	A	14: 66,149,104	T233N	probably damaging	Het
Cnpy2	T	C	10: 128,326,185	V109A	probably benign	Het
Col4a1	T	C	8: 11,208,333		probably null	Het
Csmd1	C	T	8: 15,932,529	V2713M	possibly damaging	Het
Cuedc1	G	A	11: 88,183,405	R255Q	probably damaging	Het
Cxcl15	A	T	5: 90,798,038		probably benign	Het
Dach1	A	T	14: 97,901,329	H559Q	possibly damaging	Het
Dennd4c	C	T	4: 86,826,022	T1367M	probably damaging	Het
Depdc5	T	A	5: 32,945,028	Y365*	probably null	Het
Dicer1	T	C	12: 104,702,841	Y1194C	possibly damaging	Het
Dmxl1	C	G	18: 49,891,467	S1736*	probably null	Het
Dnah7a	C	T	1: 53,497,126	R2586K	probably benign	Het
Dnajb8	T	C	6: 88,222,485	M1T	probably null	Het
Dync2h1	G	A	9: 7,122,692	P2088L	probably benign	Het
Eftud2	T	G	11: 102,844,222	H617P	probably damaging	Het
Ephb1	A	G	9: 101,995,980		probably benign	Het
Fam184a	G	T	10: 53,698,879	H155Q	probably benign	Het
Ganc	G	T	2: 120,448,401	E700*	probably null	Het
Gm10912	A	G	2: 104,066,945		probably benign	Het
Gm9047	G	T	6: 29,478,170		probably benign	Het
Haus5	A	T	7: 30,659,067	I294N	probably damaging	Het
Hmgcr	G	T	13: 96,660,143		probably null	Het
Hr	T	A	14: 70,561,912	C641*	probably null	Het
Itga10	A	G	3: 96,658,174	N1038S	probably damaging	Het
Itgb1bp1	T	G	12: 21,271,435	Y172S	probably damaging	Het
Kprp	T	C	3: 92,824,723	N340S	probably damaging	Het
Kremen1	A	G	11: 5,215,447	I41T	probably damaging	Het
Krt6b	A	G	15: 101,677,607		probably benign	Het
Krt81	C	A	15: 101,463,627	R24L	possibly damaging	Het
Ldhd	A	G	8: 111,629,677	Y86H	probably benign	Het
Lilra6	A	T	7: 3,912,785	I76N	possibly damaging	Het
Mak	T	C	13: 41,046,267	T299A	probably benign	Het
Med25	A	G	7: 44,885,078		probably null	Het
Mpg	A	T	11: 32,230,039	N189I	probably damaging	Het
Mroh8	A	G	2: 157,229,918	Y556H	probably damaging	Het
Myh8	T	A	11: 67,284,507	S294T	probably benign	Het
Myom1	T	A	17: 71,084,317	D842E	probably benign	Het
Nat2	C	T	8: 67,501,330	Q31*	probably null	Het
Nf1	T	A	11: 79,438,769	M653K	probably benign	Het
Nhs	C	A	X: 161,837,359	R1467I	probably damaging	Het
Npr2	A	G	4: 43,632,801	E206G	probably benign	Het
Nwd1	G	A	8: 72,682,005	C831Y	probably damaging	Het
Olfr1094	A	G	2: 86,829,606	I285V	probably benign	Het
Olfr584	T	C	7: 103,085,851	I111T	probably damaging	Het
P2ry14	A	G	3: 59,116,028	S4P	possibly damaging	Het
Parp4	A	G	14: 56,635,715		probably benign	Het
Pclo	A	G	5: 14,678,285		probably benign	Het
Pclo	T	C	5: 14,679,398		probably benign	Het
Pcnt	A	T	10: 76,404,595	S1202T	possibly damaging	Het
Pfkfb4	A	G	9: 109,027,757	Y412C	probably damaging	Het
Pgm1	T	A	5: 64,110,555	V449D	probably damaging	Het
Poldip3	T	A	15: 83,138,235	D116V	probably damaging	Het
Pom121	G	T	5: 135,381,832	Q824K	unknown	Het
Prkdc	G	T	16: 15,831,282	G3707*	probably null	Het
Prr14l	T	C	5: 32,844,216		probably benign	Het
Ptbp2	T	G	3: 119,720,964	I405L	probably benign	Het
Rad21l	A	T	2: 151,649,069		probably benign	Het
Rbm6	G	A	9: 107,847,289	Q488*	probably null	Het
Rdh1	T	A	10: 127,764,783	M225K	probably benign	Het
Recql5	T	C	11: 115,928,383	D119G	probably benign	Het
Rif1	GCCACCA	GCCA	2: 52,110,324		probably benign	Het
Robo1	T	C	16: 73,013,125		probably null	Het
Samd12	G	A	15: 53,860,171	T42I	probably benign	Het
Scn10a	A	T	9: 119,613,700	M1494K	probably damaging	Het
Sec31a	G	A	5: 100,375,240	P864L	probably benign	Het
Senp2	T	C	16: 22,036,570	V344A	probably benign	Het
Serpina5	G	A	12: 104,103,362	D278N	probably benign	Het
Sh3tc1	A	T	5: 35,703,462	V1017D	probably damaging	Het
Sin3a	T	A	9: 57,096,895	Y310*	probably null	Het
Slc25a32	T	C	15: 39,097,545	T248A	probably benign	Het
Slc35e1	T	C	8: 72,492,571		probably benign	Het
Slc4a10	G	A	2: 62,286,862	V722M	probably damaging	Het
Slco1a4	A	G	6: 141,830,860		probably benign	Het
Smg6	T	A	11: 74,929,058	Y52N	probably damaging	Het
Sncb	T	G	13: 54,765,587	T33P	probably damaging	Het
Spef2	A	G	15: 9,583,984		probably null	Het
Sugp1	A	G	8: 70,059,363	E203G	probably damaging	Het
Suv39h2	A	T	2: 3,472,579	C105S	probably damaging	Het
Tlr1	A	T	5: 64,926,620	F205I	probably damaging	Het
Tnip1	A	T	11: 54,917,873	M496K	probably damaging	Het
Tnxb	G	A	17: 34,718,245	E2889K	probably damaging	Het
Trim30b	T	A	7: 104,365,803	H126L	possibly damaging	Het
Trpm7	A	T	2: 126,826,718	Y759*	probably null	Het
Ttc17	A	G	2: 94,323,120	I1000T	possibly damaging	Het
Ttc27	A	T	17: 74,718,715	N61I	probably benign	Het
Uba6	T	C	5: 86,112,750	Y990C	probably damaging	Het
Vav3	A	G	3: 109,664,440		probably benign	Het
Vmn2r55	C	T	7: 12,671,018	A153T	possibly damaging	Het
Wars2	A	G	3: 99,216,549	D242G	probably damaging	Het
Xylt2	G	A	11: 94,669,936	Q259*	probably null	Het
Zfp27	G	A	7: 29,894,522	P673S	probably damaging	Het
Zgrf1	T	C	3: 127,584,660	I1023T	possibly damaging	Het

Other mutations in Nsd3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00435:Nsd3	APN	8	25676712	missense	probably benign	0.40
IGL00718:Nsd3	APN	8	25706534	missense	probably damaging	0.97
IGL00727:Nsd3	APN	8	25641158	missense	probably damaging	1.00
IGL01324:Nsd3	APN	8	25662820	missense	probably damaging	1.00
IGL01614:Nsd3	APN	8	25666079	missense	possibly damaging	0.65
IGL01834:Nsd3	APN	8	25640652	missense	probably damaging	1.00
IGL02066:Nsd3	APN	8	25713488	missense	probably damaging	1.00
IGL02229:Nsd3	APN	8	25710748	missense	probably damaging	0.98
IGL02481:Nsd3	APN	8	25691116	missense	probably damaging	1.00
IGL02686:Nsd3	APN	8	25666070	missense	probably damaging	0.96
IGL03394:Nsd3	APN	8	25675749	splice site	probably benign
Pine	UTSW	8	25679936	missense	possibly damaging	0.87
D3080:Nsd3	UTSW	8	25713545	missense	possibly damaging	0.77
IGL02802:Nsd3	UTSW	8	25640906	missense	probably damaging	1.00
R0136:Nsd3	UTSW	8	25659854	nonsense	probably null
R0195:Nsd3	UTSW	8	25680693	missense	probably damaging	1.00
R0207:Nsd3	UTSW	8	25683257	missense	probably benign	0.02
R0471:Nsd3	UTSW	8	25648434	splice site	probably benign
R0524:Nsd3	UTSW	8	25700577	missense	possibly damaging	0.90
R0581:Nsd3	UTSW	8	25710691	missense	probably damaging	1.00
R0589:Nsd3	UTSW	8	25641287	missense	probably damaging	1.00
R0645:Nsd3	UTSW	8	25709069	missense	probably benign	0.08
R0664:Nsd3	UTSW	8	25714240	missense	probably damaging	0.97
R0738:Nsd3	UTSW	8	25678709	splice site	probably null
R1148:Nsd3	UTSW	8	25713380	missense	probably benign	0.09
R1148:Nsd3	UTSW	8	25713380	missense	probably benign	0.09
R1265:Nsd3	UTSW	8	25682562	missense	probably benign
R1298:Nsd3	UTSW	8	25679936	missense	possibly damaging	0.87
R1424:Nsd3	UTSW	8	25700566	missense	probably damaging	1.00
R1493:Nsd3	UTSW	8	25713380	missense	probably benign	0.09
R1528:Nsd3	UTSW	8	25698767	missense	probably damaging	1.00
R2051:Nsd3	UTSW	8	25691089	missense	probably damaging	0.99
R2199:Nsd3	UTSW	8	25666057	missense	probably damaging	0.99
R3414:Nsd3	UTSW	8	25700019	missense	probably damaging	1.00
R3522:Nsd3	UTSW	8	25706614	missense	probably benign
R3623:Nsd3	UTSW	8	25662819	missense	probably damaging	0.98
R3624:Nsd3	UTSW	8	25662819	missense	probably damaging	0.98
R3798:Nsd3	UTSW	8	25698845	missense	probably damaging	1.00
R4345:Nsd3	UTSW	8	25641317	missense	probably benign	0.04
R4370:Nsd3	UTSW	8	25648508	missense	probably benign	0.13
R4421:Nsd3	UTSW	8	25641272	missense	probably damaging	0.99
R4583:Nsd3	UTSW	8	25710676	missense	probably benign	0.20
R4664:Nsd3	UTSW	8	25698866	missense	probably damaging	1.00
R4741:Nsd3	UTSW	8	25673366	missense	probably damaging	1.00
R4876:Nsd3	UTSW	8	25691134	missense	possibly damaging	0.94
R4888:Nsd3	UTSW	8	25698911	missense	probably damaging	1.00
R5000:Nsd3	UTSW	8	25682577	missense	probably damaging	1.00
R5132:Nsd3	UTSW	8	25678839	missense	possibly damaging	0.73
R5632:Nsd3	UTSW	8	25679969	missense	probably benign	0.00
R5760:Nsd3	UTSW	8	25659756	missense	probably damaging	1.00
R5778:Nsd3	UTSW	8	25659818	missense	probably damaging	1.00
R5779:Nsd3	UTSW	8	25682669	nonsense	probably null
R5860:Nsd3	UTSW	8	25666091	missense	probably damaging	0.98
R5911:Nsd3	UTSW	8	25666076	missense	probably damaging	1.00
R6168:Nsd3	UTSW	8	25691161	missense	probably null	1.00
R6467:Nsd3	UTSW	8	25640630	missense	probably damaging	1.00
R6490:Nsd3	UTSW	8	25714185	missense	probably damaging	1.00
R6519:Nsd3	UTSW	8	25662939	missense	probably damaging	1.00
R6554:Nsd3	UTSW	8	25662875	missense	probably damaging	0.99
R7038:Nsd3	UTSW	8	25641263	missense	probably damaging	1.00
R7088:Nsd3	UTSW	8	25666034	missense	probably benign	0.40
R7244:Nsd3	UTSW	8	25666039	missense	probably damaging	0.96
R7308:Nsd3	UTSW	8	25640724	missense	probably damaging	1.00
R7678:Nsd3	UTSW	8	25659817	missense	possibly damaging	0.82
R7717:Nsd3	UTSW	8	25682562	missense	probably benign
R8064:Nsd3	UTSW	8	25700670	nonsense	probably null
X0026:Nsd3	UTSW	8	25700593	missense	probably damaging	1.00
Z1088:Nsd3	UTSW	8	25641002	small deletion	probably benign

Predicted Primers

PCR Primer
(F):5'- GTTGAAACGGCACTATCCGAGTAGG -3'
(R):5'- GCTAACTGTGGCTGGCAAACAAG -3'

Sequencing Primer
(F):5'- TGGGATCACTTAATACCGGAAGTC -3'
(R):5'- CTGGCAAACAAGTCGTCTG -3'

Posted On

2013-06-11