Mutagenetix > Incidental Mutation

Incidental Mutation 'R8242:Nsd3'

637609

Institutional Source

Beutler Lab

Gene Symbol

Nsd3

Ensembl Gene

ENSMUSG00000054823

Gene Name

nuclear receptor binding SET domain protein 3

Synonyms

Whsc1l1, WHISTLE

MMRRC Submission

067647-MU

Accession Numbers

Essential gene?

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

Stock #

R8242 (G1)

Quality Score

220.009

Status

Validated

Chromosome

Chromosomal Location

26091617-26209694 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

G to T at 26196567 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Stop codon at position 1183 (E1183*)

Ref Sequence

ENSEMBL: ENSMUSP00000081040 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000084026] [ENSMUST00000139966] [ENSMUST00000142395] [ENSMUST00000153597]

AlphaFold

no structure available at present

Predicted Effect

probably null
Transcript: ENSMUST00000084026
AA Change: E1183*

SMART Domains

Protein: ENSMUSP00000081040
Gene: ENSMUSG00000054823
AA Change: E1183*

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 null
Transcript: ENSMUST00000139966
AA Change: E1134*

SMART Domains

Protein: ENSMUSP00000122096
Gene: ENSMUSG00000054823
AA Change: E1134*

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 null
Transcript: ENSMUST00000142395
AA Change: E1183*

SMART Domains

Protein: ENSMUSP00000117778
Gene: ENSMUSG00000054823
AA Change: E1183*

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 null
Transcript: ENSMUST00000153597
AA Change: E232*

SMART Domains

Protein: ENSMUSP00000123028
Gene: ENSMUSG00000054823
AA Change: E232*

Domain	Start	End	E-Value	Type
PWWP	17	79	8.62e-18	SMART
AWS	152	203	2.61e-17	SMART
SET	204	327	2.17e-41	SMART
PostSET	328	344	2.63e-3	SMART
low complexity region	358	375	N/A	INTRINSIC
PHD	381	424	4.32e-9	SMART

Meta Mutation Damage Score

0.9756

Coding Region Coverage

1x: 99.8%
3x: 99.7%
10x: 99.2%
20x: 98.2%

Validation Efficiency

98% (42/43)

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: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adcy10	T	C	1: 165,374,118 (GRCm39)	Y736H	possibly damaging	Het
Akr1c12	G	A	13: 4,322,269 (GRCm39)	R258*	probably null	Het
Ankfn1	C	G	11: 89,417,271 (GRCm39)		probably null	Het
Arfgef3	T	C	10: 18,505,824 (GRCm39)	K947E	probably benign	Het
Barx2	C	A	9: 31,824,227 (GRCm39)	R54L	probably damaging	Het
BC030500	T	C	8: 59,365,388 (GRCm39)	I13T	unknown	Het
Bcl11a	T	A	11: 24,113,208 (GRCm39)	F184I	probably benign	Het
Cfap251	T	A	5: 123,411,914 (GRCm39)	D515E	possibly damaging	Het
Cfap43	A	G	19: 47,885,808 (GRCm39)	L269P	probably damaging	Het
Col8a1	G	T	16: 57,452,721 (GRCm39)	P94Q	possibly damaging	Het
Coq5	T	C	5: 115,417,806 (GRCm39)	V12A	probably benign	Het
Csmd1	A	G	8: 16,760,670 (GRCm39)	V155A	probably benign	Het
Defb22	A	C	2: 152,328,007 (GRCm39)	C59W	probably damaging	Het
Dsg3	A	G	18: 20,669,980 (GRCm39)	T665A	possibly damaging	Het
Gm10542	A	G	18: 44,337,708 (GRCm39)	D62G	possibly damaging	Het
Gm45861	G	A	8: 28,038,821 (GRCm39)	S987N	unknown	Het
Gm5591	T	A	7: 38,219,746 (GRCm39)	T376S	probably benign	Het
Hps3	C	T	3: 20,068,290 (GRCm39)	R588H	possibly damaging	Het
Itpr1	A	T	6: 108,363,658 (GRCm39)	D760V	probably benign	Het
Mfsd8	G	A	3: 40,789,628 (GRCm39)	R140C	probably damaging	Het
Mroh2b	A	T	15: 4,938,522 (GRCm39)	R270S	probably benign	Het
Mroh4	G	T	15: 74,488,157 (GRCm39)	H350N	possibly damaging	Het
Or13a19	T	A	7: 139,902,696 (GRCm39)	L28*	probably null	Het
Or4p7	A	G	2: 88,222,418 (GRCm39)	I276V	possibly damaging	Het
Or51f23b	T	C	7: 102,402,306 (GRCm39)	M277V	probably benign	Het
Or8k53	A	T	2: 86,177,426 (GRCm39)	M228K	probably damaging	Het
Pex5l	T	A	3: 33,060,184 (GRCm39)	T196S	probably benign	Het
Phlpp2	T	C	8: 110,666,834 (GRCm39)	V1121A	probably benign	Het
Rab3gap2	T	A	1: 184,954,050 (GRCm39)	S41T	probably benign	Het
Rad51c	A	T	11: 87,280,712 (GRCm39)	N293K	probably damaging	Het
Rgs3	C	A	4: 62,538,022 (GRCm39)	Q18K	probably benign	Het
Ripk2	C	T	4: 16,124,430 (GRCm39)	G426D	probably benign	Het
Rpl22l1	T	C	3: 28,860,914 (GRCm39)	V44A	possibly damaging	Het
Sntb1	C	T	15: 55,655,629 (GRCm39)	A196T	possibly damaging	Het
Sorcs3	C	T	19: 48,194,913 (GRCm39)	R99W	possibly damaging	Het
Tdrd6	T	C	17: 43,939,821 (GRCm39)	E409G	probably damaging	Het
Timm50	A	T	7: 28,007,836 (GRCm39)	D105E	probably benign	Het
Tsga10	A	T	1: 37,846,182 (GRCm39)	S315T	probably benign	Het
Ttpa	G	A	4: 20,028,511 (GRCm39)	C256Y	probably damaging	Het
Vinac1	G	T	2: 128,881,313 (GRCm39)	C204*	probably null	Het
Vmn2r13	T	C	5: 109,322,872 (GRCm39)	Y139C	possibly damaging	Het
Washc5	A	G	15: 59,215,971 (GRCm39)	S803P	probably damaging	Het
Zfp985	A	C	4: 147,668,639 (GRCm39)	K502N	possibly 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
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
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'- AGGTTACGCACTGAGCCATC -3'
(R):5'- CGGTTCCTTCTGTAATCCTGAG -3'

Sequencing Primer
(F):5'- TAAGATCTCATGGGTCCAAGC -3'
(R):5'- TGTAATCCTGAGATAATAACAGCACC -3'

Posted On

2020-07-13