Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00435:Nsd3'

5051

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Nsd3

Ensembl Gene

ENSMUSG00000054823

Gene Name

nuclear receptor binding SET domain protein 3

Synonyms

Whsc1l1, WHISTLE

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.361) question?

Stock #

IGL00435

Quality Score

Status

Chromosome

Chromosomal Location

26091617-26209694 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 26166728 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 632 (D632G)

Ref Sequence

ENSEMBL: ENSMUSP00000117596 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000084026

SMART Domains

Protein: ENSMUSP00000081040
Gene: ENSMUSG00000054823

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

probably benign
Transcript: ENSMUST00000139966

SMART Domains

Protein: ENSMUSP00000122096
Gene: ENSMUSG00000054823

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

probably benign
Transcript: ENSMUST00000142395

SMART Domains

Protein: ENSMUSP00000117778
Gene: ENSMUSG00000054823

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
AA Change: D632G

PolyPhen 2 Score 0.404 (Sensitivity: 0.89; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000115470
Gene: ENSMUSG00000054823
AA Change: D632G

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
AA Change: D632G

PolyPhen 2 Score 0.404 (Sensitivity: 0.89; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000117596
Gene: ENSMUSG00000054823
AA Change: D632G

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

Coding Region Coverage

Validation Efficiency

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: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arhgap28	A	T	17: 68,152,796 (GRCm39)	D657E	probably damaging	Het
Cd200l1	A	T	16: 45,264,483 (GRCm39)	L25Q	probably damaging	Het
Cd68	T	C	11: 69,556,676 (GRCm39)	T44A	probably damaging	Het
Cecr2	C	T	6: 120,733,678 (GRCm39)	T555M	probably damaging	Het
Cep170b	A	G	12: 112,701,628 (GRCm39)	Q169R	probably damaging	Het
Cs	T	C	10: 128,195,912 (GRCm39)	F374L	probably damaging	Het
Dpy19l1	T	C	9: 24,393,226 (GRCm39)	E181G	probably damaging	Het
Efcab12	T	C	6: 115,800,625 (GRCm39)	T133A	probably benign	Het
Esr2	G	A	12: 76,180,653 (GRCm39)	R423W	probably damaging	Het
Eya4	T	C	10: 23,034,995 (GRCm39)	Y120C	probably benign	Het
Fbxw8	A	G	5: 118,206,202 (GRCm39)	M582T	probably benign	Het
Fcgbpl1	A	T	7: 27,863,953 (GRCm39)	D2575V	probably damaging	Het
Ghsr	A	G	3: 27,426,532 (GRCm39)	E196G	possibly damaging	Het
Gm10024	G	A	10: 77,547,295 (GRCm39)		probably benign	Het
Gpr65	A	G	12: 98,241,815 (GRCm39)	E156G	probably damaging	Het
Gtf3c3	T	C	1: 54,466,694 (GRCm39)	Y249C	possibly damaging	Het
H2-T23	G	A	17: 36,342,673 (GRCm39)	A155V	probably damaging	Het
Hadha	A	G	5: 30,327,171 (GRCm39)	S556P	probably benign	Het
Hdac7	T	A	15: 97,707,376 (GRCm39)	K187N	probably damaging	Het
Inpp5j	T	C	11: 3,452,255 (GRCm39)	I332V	probably benign	Het
Kank1	A	G	19: 25,407,600 (GRCm39)	D1198G	probably benign	Het
Kdr	A	G	5: 76,129,410 (GRCm39)	L159P	probably damaging	Het
Me2	T	C	18: 73,903,713 (GRCm39)	E585G	probably benign	Het
Nfu1	A	T	6: 86,992,577 (GRCm39)	T64S	probably damaging	Het
Pcna	T	C	2: 132,093,852 (GRCm39)	D97G	probably benign	Het
Pgm2	A	G	5: 64,265,612 (GRCm39)		probably benign	Het
Phactr1	C	A	13: 43,110,122 (GRCm39)	R2S	probably damaging	Het
Psmd11	T	A	11: 80,361,210 (GRCm39)	I347N	possibly damaging	Het
Rad21l	T	C	2: 151,495,436 (GRCm39)	T416A	probably benign	Het
Ruvbl2	A	T	7: 45,074,596 (GRCm39)	S181T	probably benign	Het
Rxrb	A	G	17: 34,253,049 (GRCm39)	T109A	probably damaging	Het
Ryr3	T	A	2: 112,490,494 (GRCm39)	Y3785F	probably damaging	Het
Sec16a	T	C	2: 26,320,113 (GRCm39)	T1442A	probably benign	Het
Slc6a14	T	A	X: 21,600,363 (GRCm39)		probably benign	Het
Slco2b1	G	A	7: 99,309,259 (GRCm39)	Q691*	probably null	Het
Tent5c	A	G	3: 100,380,672 (GRCm39)	V28A	probably damaging	Het
Them5	A	G	3: 94,253,496 (GRCm39)	T169A	possibly damaging	Het
Trav13-2	T	C	14: 53,872,688 (GRCm39)	F55L	possibly damaging	Het
Tst	A	T	15: 78,289,661 (GRCm39)	S125T	probably damaging	Het
Ttn	T	C	2: 76,630,868 (GRCm39)	T14179A	probably benign	Het
Vps37b	A	G	5: 124,148,850 (GRCm39)	Y62H	probably damaging	Het

Other mutations in Nsd3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00718:Nsd3	APN	8	26,196,562 (GRCm39)	missense	probably damaging	0.97
IGL00727:Nsd3	APN	8	26,131,174 (GRCm39)	missense	probably damaging	1.00
IGL01324:Nsd3	APN	8	26,152,836 (GRCm39)	missense	probably damaging	1.00
IGL01614:Nsd3	APN	8	26,156,095 (GRCm39)	missense	possibly damaging	0.65
IGL01834:Nsd3	APN	8	26,130,668 (GRCm39)	missense	probably damaging	1.00
IGL02066:Nsd3	APN	8	26,203,515 (GRCm39)	missense	probably damaging	1.00
IGL02229:Nsd3	APN	8	26,200,775 (GRCm39)	missense	probably damaging	0.98
IGL02481:Nsd3	APN	8	26,181,143 (GRCm39)	missense	probably damaging	1.00
IGL02686:Nsd3	APN	8	26,156,086 (GRCm39)	missense	probably damaging	0.96
IGL03394:Nsd3	APN	8	26,165,765 (GRCm39)	splice site	probably benign
Pine	UTSW	8	26,169,952 (GRCm39)	missense	possibly damaging	0.87
D3080:Nsd3	UTSW	8	26,203,572 (GRCm39)	missense	possibly damaging	0.77
IGL02802:Nsd3	UTSW	8	26,130,922 (GRCm39)	missense	probably damaging	1.00
R0136:Nsd3	UTSW	8	26,149,870 (GRCm39)	nonsense	probably null
R0195:Nsd3	UTSW	8	26,170,709 (GRCm39)	missense	probably damaging	1.00
R0207:Nsd3	UTSW	8	26,173,273 (GRCm39)	missense	probably benign	0.02
R0471:Nsd3	UTSW	8	26,138,450 (GRCm39)	splice site	probably benign
R0511:Nsd3	UTSW	8	26,168,732 (GRCm39)	missense	possibly damaging	0.81
R0524:Nsd3	UTSW	8	26,190,605 (GRCm39)	missense	possibly damaging	0.90
R0581:Nsd3	UTSW	8	26,200,718 (GRCm39)	missense	probably damaging	1.00
R0589:Nsd3	UTSW	8	26,131,303 (GRCm39)	missense	probably damaging	1.00
R0645:Nsd3	UTSW	8	26,199,096 (GRCm39)	missense	probably benign	0.08
R0664:Nsd3	UTSW	8	26,204,267 (GRCm39)	missense	probably damaging	0.97
R0738:Nsd3	UTSW	8	26,168,725 (GRCm39)	splice site	probably null
R1148:Nsd3	UTSW	8	26,203,407 (GRCm39)	missense	probably benign	0.09
R1148:Nsd3	UTSW	8	26,203,407 (GRCm39)	missense	probably benign	0.09
R1265:Nsd3	UTSW	8	26,172,578 (GRCm39)	missense	probably benign
R1298:Nsd3	UTSW	8	26,169,952 (GRCm39)	missense	possibly damaging	0.87
R1424:Nsd3	UTSW	8	26,190,594 (GRCm39)	missense	probably damaging	1.00
R1493:Nsd3	UTSW	8	26,203,407 (GRCm39)	missense	probably benign	0.09
R1528:Nsd3	UTSW	8	26,188,795 (GRCm39)	missense	probably damaging	1.00
R2051:Nsd3	UTSW	8	26,181,116 (GRCm39)	missense	probably damaging	0.99
R2199:Nsd3	UTSW	8	26,156,073 (GRCm39)	missense	probably damaging	0.99
R3414:Nsd3	UTSW	8	26,190,047 (GRCm39)	missense	probably damaging	1.00
R3522:Nsd3	UTSW	8	26,196,642 (GRCm39)	missense	probably benign
R3623:Nsd3	UTSW	8	26,152,835 (GRCm39)	missense	probably damaging	0.98
R3624:Nsd3	UTSW	8	26,152,835 (GRCm39)	missense	probably damaging	0.98
R3798:Nsd3	UTSW	8	26,188,873 (GRCm39)	missense	probably damaging	1.00
R4345:Nsd3	UTSW	8	26,131,333 (GRCm39)	missense	probably benign	0.04
R4370:Nsd3	UTSW	8	26,138,524 (GRCm39)	missense	probably benign	0.13
R4421:Nsd3	UTSW	8	26,131,288 (GRCm39)	missense	probably damaging	0.99
R4583:Nsd3	UTSW	8	26,200,703 (GRCm39)	missense	probably benign	0.20
R4664:Nsd3	UTSW	8	26,188,894 (GRCm39)	missense	probably damaging	1.00
R4741:Nsd3	UTSW	8	26,163,382 (GRCm39)	missense	probably damaging	1.00
R4876:Nsd3	UTSW	8	26,181,161 (GRCm39)	missense	possibly damaging	0.94
R4888:Nsd3	UTSW	8	26,188,939 (GRCm39)	missense	probably damaging	1.00
R5000:Nsd3	UTSW	8	26,172,593 (GRCm39)	missense	probably damaging	1.00
R5132:Nsd3	UTSW	8	26,168,855 (GRCm39)	missense	possibly damaging	0.73
R5632:Nsd3	UTSW	8	26,169,985 (GRCm39)	missense	probably benign	0.00
R5760:Nsd3	UTSW	8	26,149,772 (GRCm39)	missense	probably damaging	1.00
R5778:Nsd3	UTSW	8	26,149,834 (GRCm39)	missense	probably damaging	1.00
R5779:Nsd3	UTSW	8	26,172,685 (GRCm39)	nonsense	probably null
R5860:Nsd3	UTSW	8	26,156,107 (GRCm39)	missense	probably damaging	0.98
R5911:Nsd3	UTSW	8	26,156,092 (GRCm39)	missense	probably damaging	1.00
R6168:Nsd3	UTSW	8	26,181,188 (GRCm39)	missense	probably null	1.00
R6467:Nsd3	UTSW	8	26,130,646 (GRCm39)	missense	probably damaging	1.00
R6490:Nsd3	UTSW	8	26,204,212 (GRCm39)	missense	probably damaging	1.00
R6519:Nsd3	UTSW	8	26,152,955 (GRCm39)	missense	probably damaging	1.00
R6554:Nsd3	UTSW	8	26,152,891 (GRCm39)	missense	probably damaging	0.99
R7038:Nsd3	UTSW	8	26,131,279 (GRCm39)	missense	probably damaging	1.00
R7088:Nsd3	UTSW	8	26,156,050 (GRCm39)	missense	probably benign	0.40
R7244:Nsd3	UTSW	8	26,156,055 (GRCm39)	missense	probably damaging	0.96
R7308:Nsd3	UTSW	8	26,130,740 (GRCm39)	missense	probably damaging	1.00
R7678:Nsd3	UTSW	8	26,149,833 (GRCm39)	missense	possibly damaging	0.82
R7717:Nsd3	UTSW	8	26,172,578 (GRCm39)	missense	probably benign
R8064:Nsd3	UTSW	8	26,190,698 (GRCm39)	nonsense	probably null
R8242:Nsd3	UTSW	8	26,196,567 (GRCm39)	nonsense	probably null
R8312:Nsd3	UTSW	8	26,153,268 (GRCm39)	missense	probably damaging	1.00
R8547:Nsd3	UTSW	8	26,184,811 (GRCm39)	missense	probably damaging	1.00
R8954:Nsd3	UTSW	8	26,163,394 (GRCm39)	missense	probably damaging	1.00
R8995:Nsd3	UTSW	8	26,131,169 (GRCm39)	missense	probably damaging	1.00
R9026:Nsd3	UTSW	8	26,172,576 (GRCm39)	missense	probably benign	0.10
R9281:Nsd3	UTSW	8	26,152,961 (GRCm39)	missense	probably benign	0.00
R9320:Nsd3	UTSW	8	26,199,088 (GRCm39)	critical splice acceptor site	probably null
R9563:Nsd3	UTSW	8	26,204,230 (GRCm39)	missense
R9703:Nsd3	UTSW	8	26,131,228 (GRCm39)	missense	probably benign	0.00
X0026:Nsd3	UTSW	8	26,190,621 (GRCm39)	missense	probably damaging	1.00
Z1088:Nsd3	UTSW	8	26,131,018 (GRCm39)	small deletion	probably benign

Posted On

2012-04-20