Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01614:Nsd3'

92326

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 #

IGL01614

Quality Score

Status

Chromosome

Chromosomal Location

26091617-26209694 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 26156095 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Lysine at position 554 (I554K)

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: I554K

PolyPhen 2 Score 0.320 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000081040
Gene: ENSMUSG00000054823
AA Change: I554K

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: ENSMUST00000136107
AA Change: I554K

PolyPhen 2 Score 0.651 (Sensitivity: 0.87; Specificity: 0.91)

Predicted Effect

probably benign
Transcript: ENSMUST00000139966
AA Change: I554K

PolyPhen 2 Score 0.320 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000122096
Gene: ENSMUSG00000054823
AA Change: I554K

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: I554K

PolyPhen 2 Score 0.320 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000117778
Gene: ENSMUSG00000054823
AA Change: I554K

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000146919
AA Change: I554K

PolyPhen 2 Score 0.651 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000115470
Gene: ENSMUSG00000054823
AA Change: I554K

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

possibly damaging
Transcript: ENSMUST00000155861
AA Change: I554K

PolyPhen 2 Score 0.651 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000117596
Gene: ENSMUSG00000054823
AA Change: I554K

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

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: 28 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrf5	T	A	17: 43,735,362 (GRCm39)	S143T	possibly damaging	Het
Arhgap32	G	T	9: 32,171,801 (GRCm39)	S1527I	probably damaging	Het
Atp8a2	A	G	14: 60,282,437 (GRCm39)	V128A	probably damaging	Het
Bpi	T	C	2: 158,113,866 (GRCm39)	F255L	probably damaging	Het
Clptm1	A	T	7: 19,371,625 (GRCm39)	D269E	probably benign	Het
Cyria	T	C	12: 12,411,574 (GRCm39)		probably null	Het
E2f7	T	C	10: 110,595,839 (GRCm39)	V63A	probably damaging	Het
Eif4e1b	T	A	13: 54,934,729 (GRCm39)	I184N	probably damaging	Het
Gal3st1	T	A	11: 3,948,996 (GRCm39)	L401Q	probably damaging	Het
Gm7808	G	A	9: 19,839,442 (GRCm39)		probably benign	Het
Hdac5	G	A	11: 102,090,854 (GRCm39)	T741I	probably benign	Het
Ipo5	A	G	14: 121,172,507 (GRCm39)	T522A	probably benign	Het
Lama5	A	C	2: 179,822,657 (GRCm39)	F2832V	probably damaging	Het
Ltk	A	C	2: 119,583,968 (GRCm39)	L230R	probably damaging	Het
Mettl14	A	T	3: 123,167,609 (GRCm39)		probably benign	Het
Myom1	T	C	17: 71,433,173 (GRCm39)	F1507L	possibly damaging	Het
Or1j12	T	G	2: 36,342,636 (GRCm39)	I13S	probably benign	Het
Or1o1	G	A	17: 37,716,529 (GRCm39)	C30Y	probably benign	Het
Or51a43	C	T	7: 103,717,576 (GRCm39)	V221I	probably benign	Het
Or8u9	A	T	2: 86,001,741 (GRCm39)	I140N	possibly damaging	Het
Prr14	T	A	7: 127,074,305 (GRCm39)	L279H	probably damaging	Het
Rbm25	G	T	12: 83,706,341 (GRCm39)	D229Y	probably damaging	Het
Sdk2	T	C	11: 113,684,684 (GRCm39)	K1926E	probably damaging	Het
Slc25a23	C	T	17: 57,352,579 (GRCm39)	R435Q	probably null	Het
Srebf2	A	G	15: 82,063,054 (GRCm39)	N457S	probably benign	Het
Stac2	T	C	11: 97,943,774 (GRCm39)	D12G	probably benign	Het
Tal1	A	C	4: 114,920,325 (GRCm39)		probably null	Het
Usp25	G	A	16: 76,874,005 (GRCm39)	R527Q	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
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
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

Posted On

2013-12-09