Mutagenetix > Incidental Mutation

Incidental Mutation 'R6554:Nsd3'

521849

Institutional Source

Beutler Lab

Gene Symbol

Nsd3

Ensembl Gene

ENSMUSG00000054823

Gene Name

nuclear receptor binding SET domain protein 3

Synonyms

Whsc1l1, WHISTLE

MMRRC Submission

044679-MU

Accession Numbers

Essential gene?

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

Stock #

R6554 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

26091617-26209694 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 26152891 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Aspartic acid at position 410 (E410D)

Ref Sequence

ENSEMBL: ENSMUSP00000147926 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000084026] [ENSMUST00000136107] [ENSMUST00000139966] [ENSMUST00000142395] [ENSMUST00000143445] [ENSMUST00000146919] [ENSMUST00000155861]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000084026
AA Change: E410D

PolyPhen 2 Score 0.034 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000081040
Gene: ENSMUSG00000054823
AA Change: E410D

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

possibly damaging
Transcript: ENSMUST00000136107
AA Change: E410D

PolyPhen 2 Score 0.879 (Sensitivity: 0.82; Specificity: 0.94)

Predicted Effect

probably benign
Transcript: ENSMUST00000139966
AA Change: E410D

PolyPhen 2 Score 0.267 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000122096
Gene: ENSMUSG00000054823
AA Change: E410D

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

probably benign
Transcript: ENSMUST00000142395
AA Change: E410D

PolyPhen 2 Score 0.034 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000117778
Gene: ENSMUSG00000054823
AA Change: E410D

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 damaging
Transcript: ENSMUST00000143445
AA Change: E410D

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000146919
AA Change: E410D

PolyPhen 2 Score 0.935 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000115470
Gene: ENSMUSG00000054823
AA Change: E410D

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

possibly damaging
Transcript: ENSMUST00000155861
AA Change: E410D

PolyPhen 2 Score 0.935 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000117596
Gene: ENSMUSG00000054823
AA Change: E410D

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.4%
20x: 98.0%

Validation Efficiency

100% (37/37)

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: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2m	C	T	6: 121,618,246 (GRCm39)	R180C	probably damaging	Het
B3galt9	C	A	2: 34,729,276 (GRCm39)	S358R	probably benign	Het
Ces1b	C	A	8: 93,791,619 (GRCm39)	V327L	probably benign	Het
Cps1	C	T	1: 67,213,628 (GRCm39)	R787*	probably null	Het
Dmrt2	C	T	19: 25,655,312 (GRCm39)	P304S	probably damaging	Het
Dop1b	A	G	16: 93,557,346 (GRCm39)	D429G	probably benign	Het
Dync1h1	T	A	12: 110,616,282 (GRCm39)	M3111K	probably benign	Het
Dync2h1	A	G	9: 7,037,699 (GRCm39)	V3393A	probably benign	Het
Eml2	G	A	7: 18,935,088 (GRCm39)	V432I	probably damaging	Het
Fam184a	T	C	10: 53,517,063 (GRCm39)	D1007G	possibly damaging	Het
Flt3	A	C	5: 147,312,545 (GRCm39)	L132W	probably damaging	Het
Gm14322	G	A	2: 177,410,220 (GRCm39)	S60N	possibly damaging	Het
Katnip	C	T	7: 125,449,914 (GRCm39)	R993C	probably damaging	Het
Kcnj16	T	A	11: 110,916,131 (GRCm39)	Y264*	probably null	Het
Klkb1	T	A	8: 45,726,591 (GRCm39)	I471F	probably damaging	Het
Lrfn4	T	C	19: 4,663,914 (GRCm39)	T207A	probably damaging	Het
Mfsd4b5	T	A	10: 39,862,428 (GRCm39)	T32S	probably benign	Het
Mtbp	A	G	15: 55,430,645 (GRCm39)	D234G	probably damaging	Het
Nfix	T	C	8: 85,454,279 (GRCm39)	T218A	possibly damaging	Het
Or4g17	C	T	2: 111,209,504 (GRCm39)	S53F	possibly damaging	Het
Or5aq7	A	T	2: 86,937,970 (GRCm39)	S254T	probably benign	Het
Reln	T	C	5: 22,101,838 (GRCm39)	Y3364C	probably damaging	Het
Selplg	G	A	5: 113,958,210 (GRCm39)	P32L	probably benign	Het
Serpina1d	A	T	12: 103,731,062 (GRCm39)	H305Q	probably benign	Het
Skic8	A	T	9: 54,634,929 (GRCm39)	I88N	probably damaging	Het
Skint8	G	A	4: 111,784,413 (GRCm39)	C13Y	probably benign	Het
Smc4	G	A	3: 68,936,848 (GRCm39)	V863I	probably benign	Het
Spdl1	T	G	11: 34,713,397 (GRCm39)	N224T	possibly damaging	Het
Sprr1b	T	G	3: 92,344,420 (GRCm39)	Q152P	possibly damaging	Het
St6gal1	A	G	16: 23,140,405 (GRCm39)	N192S	probably benign	Het
Tbc1d8	T	C	1: 39,445,903 (GRCm39)	N96S	probably damaging	Het
Tbccd1	A	T	16: 22,640,874 (GRCm39)	I501K	probably damaging	Het
Tmem161b	C	A	13: 84,370,537 (GRCm39)		probably benign	Het
Unk	T	C	11: 115,942,285 (GRCm39)	I293T	probably damaging	Het
Vmn2r61	A	G	7: 41,926,139 (GRCm39)	E548G	probably damaging	Het
Wdr97	A	G	15: 76,239,178 (GRCm39)	D85G	possibly damaging	Het
Zeb2	A	T	2: 44,887,524 (GRCm39)	V496E	probably damaging	Het

Other mutations in Nsd3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00435:Nsd3	APN	8	26,166,728 (GRCm39)	missense	probably benign	0.40
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
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

Predicted Primers

PCR Primer
(F):5'- TTGCAGAGTGCTTGGAAGATAC -3'
(R):5'- TTCCAAGCTAGTATGCCGC -3'

Sequencing Primer
(F):5'- CAGAGTGCTTGGAAGATACATGTTG -3'
(R):5'- AAGCTAGTATGCCGCCTCTG -3'

Posted On

2018-06-06