Mutagenetix > Incidental Mutation

Incidental Mutation 'R0581:Nsd3'

56424

Institutional Source

Beutler Lab

Gene Symbol

Nsd3

Ensembl Gene

ENSMUSG00000054823

Gene Name

nuclear receptor binding SET domain protein 3

Synonyms

Whsc1l1, WHISTLE

MMRRC Submission

038771-MU

Accession Numbers

Essential gene?

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

Stock #

R0581 (G1)

Quality Score

101

Status

Validated

Chromosome

Chromosomal Location

26091617-26209694 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 26200718 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 1270 (N1270S)

Ref Sequence

ENSEMBL: ENSMUSP00000117778 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000084026
AA Change: N1270S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000081040
Gene: ENSMUSG00000054823
AA Change: N1270S

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

probably damaging
Transcript: ENSMUST00000139966
AA Change: N1221S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000122096
Gene: ENSMUSG00000054823
AA Change: N1221S

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 damaging
Transcript: ENSMUST00000142395
AA Change: N1270S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000117778
Gene: ENSMUSG00000054823
AA Change: N1270S

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: ENSMUST00000153597
AA Change: N308S

PolyPhen 2 Score 0.877 (Sensitivity: 0.83; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000123028
Gene: ENSMUSG00000054823
AA Change: N308S

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

0.6814

Coding Region Coverage

1x: 99.7%
3x: 99.0%
10x: 97.3%
20x: 93.7%

Validation Efficiency

95% (42/44)

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: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akap9	A	G	5: 4,100,620 (GRCm39)	T2761A	probably benign	Het
Apold1	G	A	6: 134,960,776 (GRCm39)	V77I	probably benign	Het
Atad2	T	C	15: 57,990,060 (GRCm39)	T139A	probably benign	Het
Cacna1a	A	T	8: 85,328,565 (GRCm39)	I1668F	possibly damaging	Het
Ccer2	T	A	7: 28,456,451 (GRCm39)		probably benign	Het
Cyp2c54	T	A	19: 40,035,999 (GRCm39)	T304S	probably benign	Het
Dpp4	T	A	2: 62,187,020 (GRCm39)	M497L	probably benign	Het
Evpl	T	A	11: 116,120,316 (GRCm39)	I541L	probably benign	Het
Ggn	A	G	7: 28,871,729 (GRCm39)	T370A	probably benign	Het
Ghr	A	G	15: 3,418,116 (GRCm39)		probably benign	Het
Gm6605	C	A	7: 38,147,699 (GRCm39)		noncoding transcript	Het
Gpr68	G	C	12: 100,844,815 (GRCm39)	P243R	probably damaging	Het
Gtf3c2	G	T	5: 31,316,862 (GRCm39)	Y720*	probably null	Het
Il2rb	T	A	15: 78,366,136 (GRCm39)	Y387F	possibly damaging	Het
Kcnu1	T	A	8: 26,427,529 (GRCm39)	V282E	probably damaging	Het
Krt222	G	A	11: 99,127,018 (GRCm39)	Q201*	probably null	Het
Lats1	A	G	10: 7,578,705 (GRCm39)	T610A	possibly damaging	Het
Mroh2a	GT	GTT	1: 88,183,888 (GRCm39)		probably null	Het
Myh7	T	C	14: 55,222,953 (GRCm39)	I751V	probably benign	Het
Mypn	A	G	10: 62,998,023 (GRCm39)	I429T	probably benign	Het
Nemf	A	T	12: 69,369,045 (GRCm39)	D723E	probably benign	Het
Nlrp4b	T	C	7: 10,448,457 (GRCm39)	L220P	probably damaging	Het
Npr3	T	A	15: 11,851,536 (GRCm39)	D418V	probably damaging	Het
Or1j15	T	C	2: 36,458,834 (GRCm39)	S75P	probably damaging	Het
Or2g1	A	G	17: 38,106,993 (GRCm39)	I219M	probably damaging	Het
Otogl	G	A	10: 107,624,901 (GRCm39)	T1579I	possibly damaging	Het
Pkp2	T	A	16: 16,087,647 (GRCm39)		probably benign	Het
Psd3	T	C	8: 68,173,598 (GRCm39)	Y301C	probably damaging	Het
Psmb4	T	C	3: 94,793,479 (GRCm39)	H134R	probably damaging	Het
Ralgapb	A	G	2: 158,334,881 (GRCm39)	T1043A	probably benign	Het
Sec14l5	T	A	16: 4,996,349 (GRCm39)		probably null	Het
Serpina12	T	A	12: 103,997,399 (GRCm39)	Q374L	probably damaging	Het
Serpinb10	C	T	1: 107,474,692 (GRCm39)	R362*	probably null	Het
Sorcs1	T	A	19: 50,241,139 (GRCm39)	I416F	possibly damaging	Het
Sparcl1	T	C	5: 104,241,178 (GRCm39)	D82G	probably damaging	Het
Stat6	A	T	10: 127,483,985 (GRCm39)	Q89L	probably damaging	Het
Tat	A	G	8: 110,718,270 (GRCm39)	T52A	possibly damaging	Het
Yipf7	T	A	5: 69,678,406 (GRCm39)	I128F	probably benign	Het
Zfp112	T	A	7: 23,825,288 (GRCm39)	C419S	probably damaging	Het
Zzef1	A	G	11: 72,742,726 (GRCm39)	I769V	probably benign	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
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

Predicted Primers

PCR Primer
(F):5'- TGGGCAGGGATTGTTGACCACAAG -3'
(R):5'- CCTCAAGAACGAGAGAGTTCAAGGC -3'

Sequencing Primer
(F):5'- tgaatccaggtcccattgtc -3'
(R):5'- ccagcctgtgctccaag -3'

Posted On

2013-07-11