Mutagenetix > Incidental Mutation

Incidental Mutation 'R4370:Nsd3'

325957

Institutional Source

Beutler Lab

Gene Symbol

Nsd3

Ensembl Gene

ENSMUSG00000054823

Gene Name

nuclear receptor binding SET domain protein 3

Synonyms

Whsc1l1, WHISTLE

MMRRC Submission

041674-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.303) question?

Stock #

R4370 (G1)

Quality Score

222

Status

Not validated

Chromosome

Chromosomal Location

26091617-26209694 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 26138524 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 258 (I258N)

Ref Sequence

ENSEMBL: ENSMUSP00000117596 (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: I258N

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000081040
Gene: ENSMUSG00000054823
AA Change: I258N

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
AA Change: I258N

PolyPhen 2 Score 0.044 (Sensitivity: 0.94; Specificity: 0.83)

Predicted Effect

probably benign
Transcript: ENSMUST00000139966
AA Change: I258N

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000122096
Gene: ENSMUSG00000054823
AA Change: I258N

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: I258N

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000117778
Gene: ENSMUSG00000054823
AA Change: I258N

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: ENSMUST00000143445
AA Change: I258N

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

Predicted Effect

probably benign
Transcript: ENSMUST00000146919
AA Change: I258N

PolyPhen 2 Score 0.132 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000115470
Gene: ENSMUSG00000054823
AA Change: I258N

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: I258N

PolyPhen 2 Score 0.132 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000117596
Gene: ENSMUSG00000054823
AA Change: I258N

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: 99.2%
3x: 98.6%
10x: 97.1%
20x: 94.9%

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: 34 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acoxl	T	A	2: 127,720,708 (GRCm39)	D190E	possibly damaging	Het
Alg11	C	A	8: 22,558,095 (GRCm39)	A469E	probably benign	Het
Armc2	A	T	10: 41,793,196 (GRCm39)	N809K	probably benign	Het
B4galt3	C	A	1: 171,101,613 (GRCm39)	H196N	probably damaging	Het
Bmal2	A	T	6: 146,711,149 (GRCm39)	E51V	probably damaging	Het
Cage1	G	A	13: 38,209,626 (GRCm39)	S11F	probably damaging	Het
Car15	T	C	16: 17,653,299 (GRCm39)	I289M	probably damaging	Het
Cdhr18	C	T	14: 13,862,375 (GRCm38)	S393N	probably benign	Het
Cfap100	A	T	6: 90,390,376 (GRCm39)	I242N	probably damaging	Het
Dst	GAA	GA	1: 34,290,809 (GRCm39)		probably null	Het
Epdr1	C	A	13: 19,803,576 (GRCm39)	V53F	probably benign	Het
Igfn1	A	G	1: 135,895,844 (GRCm39)	M1574T	probably benign	Het
Kat6a	T	C	8: 23,401,945 (GRCm39)	I438T	possibly damaging	Het
Kcnd3	C	T	3: 105,566,082 (GRCm39)	A421V	probably damaging	Het
Krtap4-7	G	A	11: 99,534,543 (GRCm39)	P107S	unknown	Het
Lrp6	A	C	6: 134,483,321 (GRCm39)	Y461*	probably null	Het
Mecom	T	A	3: 30,011,504 (GRCm39)	E723V	probably damaging	Het
Or10q12	T	C	19: 13,746,315 (GRCm39)	V203A	probably benign	Het
Or5k8	T	A	16: 58,644,956 (GRCm39)	M39L	probably benign	Het
Or8k32	A	T	2: 86,368,764 (GRCm39)	I165N	possibly damaging	Het
Rb1cc1	A	G	1: 6,318,771 (GRCm39)	D730G	probably damaging	Het
Sacs	A	G	14: 61,449,758 (GRCm39)	R3935G	probably damaging	Het
Setd5	A	G	6: 113,098,766 (GRCm39)	K800E	probably damaging	Het
Slc26a4	G	T	12: 31,579,475 (GRCm39)	Q596K	probably benign	Het
Slc38a4	T	A	15: 96,906,965 (GRCm39)	N258Y	possibly damaging	Het
Sntb1	A	G	15: 55,655,487 (GRCm39)	I243T	probably damaging	Het
Sspo	A	G	6: 48,443,282 (GRCm39)	S2051G	probably null	Het
Sys1	T	C	2: 164,303,315 (GRCm39)	W10R	probably damaging	Het
Tgm2	G	A	2: 157,966,221 (GRCm39)	R478*	probably null	Het
Tgm6	T	C	2: 129,985,525 (GRCm39)	Y443H	probably benign	Het
Tor2a	T	A	2: 32,648,870 (GRCm39)	D113E	probably benign	Het
Trio	C	A	15: 27,748,423 (GRCm39)	E1266*	probably null	Het
Usp40	T	C	1: 87,925,597 (GRCm39)	I211V	probably benign	Het
Zfp791	C	T	8: 85,840,235 (GRCm39)	V11M	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
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

Predicted Primers

PCR Primer
(F):5'- CTAACTGTAGTGTGGAGTGGACAG -3'
(R):5'- TGGTGGACTACTAACAACCAGAC -3'

Sequencing Primer
(F):5'- TGTGGAGTGGACAGGTTAAAGCC -3'
(R):5'- GAACATGTGTGCTCAATGCC -3'

Posted On

2015-07-06