Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02229:Nsd3'

285434

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Nsd3

Ensembl Gene

ENSMUSG00000054823

Gene Name

nuclear receptor binding SET domain protein 3

Synonyms

Whsc1l1, WHISTLE

Accession Numbers

Essential gene?

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

Stock #

IGL02229

Quality Score

Status

Chromosome

Chromosomal Location

25601601-25719667 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 25710748 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 1289 (N1289S)

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: N1289S

PolyPhen 2 Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000081040
Gene: ENSMUSG00000054823
AA Change: N1289S

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: N1240S

PolyPhen 2 Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000122096
Gene: ENSMUSG00000054823
AA Change: N1240S

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: N1289S

PolyPhen 2 Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000117778
Gene: ENSMUSG00000054823
AA Change: N1289S

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: ENSMUST00000153597
AA Change: N327S

PolyPhen 2 Score 0.305 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000123028
Gene: ENSMUSG00000054823
AA Change: N327S

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

Coding Region Coverage

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: 35 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610040J01Rik	A	G	5: 63,898,353 (GRCm38)	D144G	probably damaging	Het
Adgrg1	G	T	8: 95,003,511 (GRCm38)	D114Y	probably damaging	Het
Ago4	T	A	4: 126,511,532 (GRCm38)	N416I	probably benign	Het
Aoc1	C	T	6: 48,905,909 (GRCm38)	Q240*	probably null	Het
Atl1	G	A	12: 69,926,025 (GRCm38)	V40I	probably benign	Het
Cdh2	T	C	18: 16,624,753 (GRCm38)	I591V	probably benign	Het
Cic	C	A	7: 25,290,950 (GRCm38)	Q1959K	probably damaging	Het
Cmya5	C	T	13: 93,092,686 (GRCm38)	E1965K	possibly damaging	Het
Csgalnact1	C	A	8: 68,401,492 (GRCm38)	G219V	probably damaging	Het
Cspp1	T	C	1: 10,083,556 (GRCm38)	S397P	probably damaging	Het
D130043K22Rik	T	C	13: 24,875,924 (GRCm38)	Y593H	probably damaging	Het
Dck	A	G	5: 88,774,105 (GRCm38)	Y142C	probably damaging	Het
Eea1	A	T	10: 96,018,184 (GRCm38)	E568V	probably damaging	Het
Gabra3	A	G	X: 72,501,077 (GRCm38)		probably null	Het
Gucy2f	A	G	X: 142,179,988 (GRCm38)	S342P	probably benign	Het
Hbb-bh1	T	A	7: 103,842,825 (GRCm38)	I61F	possibly damaging	Het
Hook1	T	C	4: 96,001,251 (GRCm38)	S235P	possibly damaging	Het
Hoxd12	G	A	2: 74,675,934 (GRCm38)	R230H	probably damaging	Het
Iglc2	C	T	16: 19,198,733 (GRCm38)	A41T	probably benign	Het
Il1r1	A	G	1: 40,313,358 (GRCm38)	K566E	probably damaging	Het
Kcns3	A	T	12: 11,092,092 (GRCm38)	M202K	probably damaging	Het
Krt7	C	A	15: 101,427,616 (GRCm38)	A442D	probably benign	Het
Ltk	C	T	2: 119,758,573 (GRCm38)	R200H	probably benign	Het
Macf1	G	T	4: 123,509,826 (GRCm38)	D582E	probably damaging	Het
Mbnl3	A	T	X: 51,139,341 (GRCm38)	Y69N	probably damaging	Het
Mpp1	T	C	X: 75,121,428 (GRCm38)		probably benign	Het
Myo18b	A	G	5: 112,878,110 (GRCm38)	S25P	unknown	Het
Or8d1	T	A	9: 38,855,416 (GRCm38)	M118K	possibly damaging	Het
Pacs2	A	G	12: 113,056,800 (GRCm38)		probably benign	Het
Rab3gap2	A	G	1: 185,259,383 (GRCm38)	K689E	possibly damaging	Het
Sva	T	A	6: 42,042,222 (GRCm38)	C109S	probably damaging	Het
Taf3	T	C	2: 9,952,834 (GRCm38)	N174S	probably damaging	Het
Tbc1d5	A	T	17: 50,852,600 (GRCm38)	M393K	probably damaging	Het
Tmem242	A	T	17: 5,411,407 (GRCm38)	S129T	probably benign	Het
Ttn	A	T	2: 76,871,169 (GRCm38)		probably benign	Het

Other mutations in Nsd3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00435:Nsd3	APN	8	25,676,712 (GRCm38)	missense	probably benign	0.40
IGL00718:Nsd3	APN	8	25,706,534 (GRCm38)	missense	probably damaging	0.97
IGL00727:Nsd3	APN	8	25,641,158 (GRCm38)	missense	probably damaging	1.00
IGL01324:Nsd3	APN	8	25,662,820 (GRCm38)	missense	probably damaging	1.00
IGL01614:Nsd3	APN	8	25,666,079 (GRCm38)	missense	possibly damaging	0.65
IGL01834:Nsd3	APN	8	25,640,652 (GRCm38)	missense	probably damaging	1.00
IGL02066:Nsd3	APN	8	25,713,488 (GRCm38)	missense	probably damaging	1.00
IGL02481:Nsd3	APN	8	25,691,116 (GRCm38)	missense	probably damaging	1.00
IGL02686:Nsd3	APN	8	25,666,070 (GRCm38)	missense	probably damaging	0.96
IGL03394:Nsd3	APN	8	25,675,749 (GRCm38)	splice site	probably benign
Pine	UTSW	8	25,679,936 (GRCm38)	missense	possibly damaging	0.87
D3080:Nsd3	UTSW	8	25,713,545 (GRCm38)	missense	possibly damaging	0.77
IGL02802:Nsd3	UTSW	8	25,640,906 (GRCm38)	missense	probably damaging	1.00
R0136:Nsd3	UTSW	8	25,659,854 (GRCm38)	nonsense	probably null
R0195:Nsd3	UTSW	8	25,680,693 (GRCm38)	missense	probably damaging	1.00
R0207:Nsd3	UTSW	8	25,683,257 (GRCm38)	missense	probably benign	0.02
R0471:Nsd3	UTSW	8	25,648,434 (GRCm38)	splice site	probably benign
R0511:Nsd3	UTSW	8	25,678,716 (GRCm38)	missense	possibly damaging	0.81
R0524:Nsd3	UTSW	8	25,700,577 (GRCm38)	missense	possibly damaging	0.90
R0581:Nsd3	UTSW	8	25,710,691 (GRCm38)	missense	probably damaging	1.00
R0589:Nsd3	UTSW	8	25,641,287 (GRCm38)	missense	probably damaging	1.00
R0645:Nsd3	UTSW	8	25,709,069 (GRCm38)	missense	probably benign	0.08
R0664:Nsd3	UTSW	8	25,714,240 (GRCm38)	missense	probably damaging	0.97
R0738:Nsd3	UTSW	8	25,678,709 (GRCm38)	splice site	probably null
R1148:Nsd3	UTSW	8	25,713,380 (GRCm38)	missense	probably benign	0.09
R1148:Nsd3	UTSW	8	25,713,380 (GRCm38)	missense	probably benign	0.09
R1265:Nsd3	UTSW	8	25,682,562 (GRCm38)	missense	probably benign
R1298:Nsd3	UTSW	8	25,679,936 (GRCm38)	missense	possibly damaging	0.87
R1424:Nsd3	UTSW	8	25,700,566 (GRCm38)	missense	probably damaging	1.00
R1493:Nsd3	UTSW	8	25,713,380 (GRCm38)	missense	probably benign	0.09
R1528:Nsd3	UTSW	8	25,698,767 (GRCm38)	missense	probably damaging	1.00
R2051:Nsd3	UTSW	8	25,691,089 (GRCm38)	missense	probably damaging	0.99
R2199:Nsd3	UTSW	8	25,666,057 (GRCm38)	missense	probably damaging	0.99
R3414:Nsd3	UTSW	8	25,700,019 (GRCm38)	missense	probably damaging	1.00
R3522:Nsd3	UTSW	8	25,706,614 (GRCm38)	missense	probably benign
R3623:Nsd3	UTSW	8	25,662,819 (GRCm38)	missense	probably damaging	0.98
R3624:Nsd3	UTSW	8	25,662,819 (GRCm38)	missense	probably damaging	0.98
R3798:Nsd3	UTSW	8	25,698,845 (GRCm38)	missense	probably damaging	1.00
R4345:Nsd3	UTSW	8	25,641,317 (GRCm38)	missense	probably benign	0.04
R4370:Nsd3	UTSW	8	25,648,508 (GRCm38)	missense	probably benign	0.13
R4421:Nsd3	UTSW	8	25,641,272 (GRCm38)	missense	probably damaging	0.99
R4583:Nsd3	UTSW	8	25,710,676 (GRCm38)	missense	probably benign	0.20
R4664:Nsd3	UTSW	8	25,698,866 (GRCm38)	missense	probably damaging	1.00
R4741:Nsd3	UTSW	8	25,673,366 (GRCm38)	missense	probably damaging	1.00
R4876:Nsd3	UTSW	8	25,691,134 (GRCm38)	missense	possibly damaging	0.94
R4888:Nsd3	UTSW	8	25,698,911 (GRCm38)	missense	probably damaging	1.00
R5000:Nsd3	UTSW	8	25,682,577 (GRCm38)	missense	probably damaging	1.00
R5132:Nsd3	UTSW	8	25,678,839 (GRCm38)	missense	possibly damaging	0.73
R5632:Nsd3	UTSW	8	25,679,969 (GRCm38)	missense	probably benign	0.00
R5760:Nsd3	UTSW	8	25,659,756 (GRCm38)	missense	probably damaging	1.00
R5778:Nsd3	UTSW	8	25,659,818 (GRCm38)	missense	probably damaging	1.00
R5779:Nsd3	UTSW	8	25,682,669 (GRCm38)	nonsense	probably null
R5860:Nsd3	UTSW	8	25,666,091 (GRCm38)	missense	probably damaging	0.98
R5911:Nsd3	UTSW	8	25,666,076 (GRCm38)	missense	probably damaging	1.00
R6168:Nsd3	UTSW	8	25,691,161 (GRCm38)	missense	probably null	1.00
R6467:Nsd3	UTSW	8	25,640,630 (GRCm38)	missense	probably damaging	1.00
R6490:Nsd3	UTSW	8	25,714,185 (GRCm38)	missense	probably damaging	1.00
R6519:Nsd3	UTSW	8	25,662,939 (GRCm38)	missense	probably damaging	1.00
R6554:Nsd3	UTSW	8	25,662,875 (GRCm38)	missense	probably damaging	0.99
R7038:Nsd3	UTSW	8	25,641,263 (GRCm38)	missense	probably damaging	1.00
R7088:Nsd3	UTSW	8	25,666,034 (GRCm38)	missense	probably benign	0.40
R7244:Nsd3	UTSW	8	25,666,039 (GRCm38)	missense	probably damaging	0.96
R7308:Nsd3	UTSW	8	25,640,724 (GRCm38)	missense	probably damaging	1.00
R7678:Nsd3	UTSW	8	25,659,817 (GRCm38)	missense	possibly damaging	0.82
R7717:Nsd3	UTSW	8	25,682,562 (GRCm38)	missense	probably benign
R8064:Nsd3	UTSW	8	25,700,670 (GRCm38)	nonsense	probably null
R8242:Nsd3	UTSW	8	25,706,539 (GRCm38)	nonsense	probably null
R8312:Nsd3	UTSW	8	25,663,252 (GRCm38)	missense	probably damaging	1.00
R8547:Nsd3	UTSW	8	25,694,784 (GRCm38)	missense	probably damaging	1.00
R8954:Nsd3	UTSW	8	25,673,378 (GRCm38)	missense	probably damaging	1.00
R8995:Nsd3	UTSW	8	25,641,153 (GRCm38)	missense	probably damaging	1.00
R9026:Nsd3	UTSW	8	25,682,560 (GRCm38)	missense	probably benign	0.10
R9281:Nsd3	UTSW	8	25,662,945 (GRCm38)	missense	probably benign	0.00
R9320:Nsd3	UTSW	8	25,709,061 (GRCm38)	critical splice acceptor site	probably null
R9563:Nsd3	UTSW	8	25,714,203 (GRCm38)	missense
R9703:Nsd3	UTSW	8	25,641,212 (GRCm38)	missense	probably benign	0.00
X0026:Nsd3	UTSW	8	25,700,593 (GRCm38)	missense	probably damaging	1.00
Z1088:Nsd3	UTSW	8	25,641,002 (GRCm38)	small deletion	probably benign

Posted On

2015-04-16