Mutagenetix > Incidental Mutation

Incidental Mutation 'R3414:Nsd3'

266734

Institutional Source

Beutler Lab

Gene Symbol

Nsd3

Ensembl Gene

ENSMUSG00000054823

Gene Name

nuclear receptor binding SET domain protein 3

Synonyms

Whsc1l1, WHISTLE

MMRRC Submission

040632-MU

Accession Numbers

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

Essential gene?

Possibly non essential (E-score: 0.458) question?

Stock #

R3414 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

25601601-25719667 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 25700019 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 135 (I135T)

Ref Sequence

ENSEMBL: ENSMUSP00000123028 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000084026
AA Change: I1086T

PolyPhen 2 Score 0.924 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000081040
Gene: ENSMUSG00000054823
AA Change: I1086T

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

noncoding transcript
Transcript: ENSMUST00000129959

Predicted Effect

possibly damaging
Transcript: ENSMUST00000139966
AA Change: I1037T

PolyPhen 2 Score 0.924 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000122096
Gene: ENSMUSG00000054823
AA Change: I1037T

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

possibly damaging
Transcript: ENSMUST00000142395
AA Change: I1086T

PolyPhen 2 Score 0.924 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000117778
Gene: ENSMUSG00000054823
AA Change: I1086T

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

noncoding transcript
Transcript: ENSMUST00000147935

Predicted Effect

probably damaging
Transcript: ENSMUST00000153597
AA Change: I135T

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000123028
Gene: ENSMUSG00000054823
AA Change: I135T

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

0.1600

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.1%

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: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3425401B19Rik	T	A	14: 32,661,602	Q802L	probably benign	Het
Atp8b4	C	A	2: 126,375,757	W613L	probably damaging	Het
AW554918	C	A	18: 25,400,072	T261K	possibly damaging	Het
Cttnbp2	A	G	6: 18,389,205	V1178A	probably benign	Het
Ddx18	T	C	1: 121,562,149	N177S	probably benign	Het
Dhx29	A	G	13: 112,947,273	K621E	probably damaging	Het
Diexf	A	C	1: 193,128,502	S64R	possibly damaging	Het
Eef2	G	T	10: 81,177,858	R66L	probably damaging	Het
Ergic2	A	G	6: 148,206,681		probably benign	Het
Fcna	G	C	2: 25,627,493	P49A	probably damaging	Het
Hace1	T	A	10: 45,648,675	D234E	possibly damaging	Het
Ifi202b	A	G	1: 173,963,913	S400P	probably benign	Het
Ighv1-23	C	T	12: 114,764,467	V112I	probably benign	Het
Il4i1	T	C	7: 44,836,658	L22P	probably damaging	Het
Il7	G	T	3: 7,576,033	Q67K	probably benign	Het
Inpp5d	C	A	1: 87,668,057	T175N	possibly damaging	Het
Klk1b26	A	G	7: 44,016,873	I247V	probably benign	Het
Klrc1	A	G	6: 129,677,763		probably null	Het
Lama1	T	C	17: 67,737,603	C166R	probably damaging	Het
Mrps5	A	G	2: 127,596,912	D219G	probably benign	Het
Mtus1	T	C	8: 41,048,063	T806A	probably damaging	Het
Naip2	G	A	13: 100,189,263	R46*	probably null	Het
Nos2	A	T	11: 78,957,588	Y1107F	probably benign	Het
Olfr156	C	T	4: 43,821,258	M34I	probably benign	Het
Olfr710	G	T	7: 106,944,176	S275*	probably null	Het
Olfr808	A	G	10: 129,768,432	H312R	probably benign	Het
Pla2g4f	T	C	2: 120,303,106	S579G	probably benign	Het
Ppip5k1	A	T	2: 121,327,661	S252R	probably damaging	Het
Proc	T	A	18: 32,123,685	T310S	probably benign	Het
Psg21	A	T	7: 18,652,380	L227Q	probably damaging	Het
Rusc2	T	G	4: 43,415,935	S414A	probably damaging	Het
Sec24a	T	A	11: 51,729,458	N456Y	probably damaging	Het
Slc1a7	A	G	4: 108,010,994	E497G	probably benign	Het
Spag8	T	A	4: 43,651,606	S423C	probably damaging	Het
Spata13	A	G	14: 60,706,723	T522A	probably benign	Het
Top1mt	T	C	15: 75,657,176	N573S	probably benign	Het
Trim69	T	C	2: 122,178,644	V395A	probably benign	Het
Ttn	A	T	2: 76,811,243	L5176Q	possibly damaging	Het
Tusc1	C	A	4: 93,334,936	R162L	probably damaging	Het
Unc13b	T	A	4: 43,234,658		probably benign	Het
Vmn1r2	T	A	4: 3,172,696	M205K	probably damaging	Het
Zfhx4	A	G	3: 5,403,823	K3014E	probably 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
R0511:Nsd3	UTSW	8	25678716	missense	possibly damaging	0.81
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
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
R8242:Nsd3	UTSW	8	25706539	nonsense	probably null
R8312:Nsd3	UTSW	8	25663252	missense	probably damaging	1.00
R8547:Nsd3	UTSW	8	25694784	missense	probably damaging	1.00
R8954:Nsd3	UTSW	8	25673378	missense	probably damaging	1.00
R8995:Nsd3	UTSW	8	25641153	missense	probably damaging	1.00
R9026:Nsd3	UTSW	8	25682560	missense	probably benign	0.10
R9281:Nsd3	UTSW	8	25662945	missense	probably benign	0.00
R9320:Nsd3	UTSW	8	25709061	critical splice acceptor site	probably null
R9563:Nsd3	UTSW	8	25714203	missense
R9703:Nsd3	UTSW	8	25641212	missense	probably benign	0.00
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'- CAGAGCGTGTCTAGGATGGTAG -3'
(R):5'- TACCTGAAATCAAGGGACAATGTC -3'

Sequencing Primer
(F):5'- GATGGTAGAATGTAACTTCCCACGC -3'
(R):5'- TGTCTGGAAAAGGAAGGCTAAAGGTC -3'

Posted On

2015-02-18