Mutagenetix > Incidental Mutation

Incidental Mutation 'R4963:Smyd2'

383693

Institutional Source

Beutler Lab

Gene Symbol

Smyd2

Ensembl Gene

ENSMUSG00000026603

Gene Name

SET and MYND domain containing 2

Synonyms

Zmynd14, KMT3C, 1110020E07Rik

MMRRC Submission

042560-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4963 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

189880492-189922363 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 189882188 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 381 (V381E)

Ref Sequence

ENSEMBL: ENSMUSP00000027897 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000027897]

AlphaFold

Q8R5A0

PDB Structure

Crystal structure of histone lysine methyltransferase SmyD2 in complex with the cofactor product AdoHcy [X-RAY DIFFRACTION]
Crystal structure of histone lysine methyltransferase SmyD2 in complex with the methyltransferase inhibitor sinefungin [X-RAY DIFFRACTION]

Predicted Effect

probably damaging
Transcript: ENSMUST00000027897
AA Change: V381E

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000027897
Gene: ENSMUSG00000026603
AA Change: V381E

Domain	Start	End	E-Value	Type
SET	7	247	2.88e-2	SMART
SCOP:d1elra_	344	411	8e-5	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000130804

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000132289

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000144452

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000193794

Meta Mutation Damage Score

0.8298

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.6%
20x: 93.3%

Validation Efficiency

97% (74/76)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] SET domain-containing proteins, such as SMYD2, catalyze lysine methylation (Brown et al., 2006 [PubMed 16805913]).[supplied by OMIM, Nov 2008]
PHENOTYPE: Mice homozygous for a targeted allele exhibit increased circulating total and LDL cholesterol levels and decreased circulating sodium and chloride levels. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A530064D06Rik	A	T	17: 48,163,414	I133N	probably benign	Het
Abca15	T	C	7: 120,360,919	S642P	probably damaging	Het
Abcg5	G	T	17: 84,660,141	Y410*	probably null	Het
Anapc7	T	A	5: 122,422,606	M10K	probably damaging	Het
Ank2	G	A	3: 127,032,096	T418M	probably benign	Het
Arhgap17	T	C	7: 123,308,360	R260G	possibly damaging	Het
Atp1a3	T	C	7: 24,994,626	T381A	probably damaging	Het
Cep89	T	G	7: 35,403,152	S97A	probably benign	Het
Cyp2j11	T	C	4: 96,316,382	D309G	probably damaging	Het
Dcbld2	T	C	16: 58,465,782	I768T	probably benign	Het
Dgke	A	G	11: 89,050,802	V249A	possibly damaging	Het
Dnah9	T	C	11: 66,084,611		probably null	Het
Dnajc3	C	A	14: 118,978,173	H502N	probably benign	Het
Dsp	A	G	13: 38,197,870	T2265A	probably damaging	Het
Enpp6	A	G	8: 47,065,461	D208G	probably benign	Het
Evc	C	T	5: 37,322,049		probably null	Het
Fam98a	A	G	17: 75,538,982	S285P	probably damaging	Het
Glp2r	G	T	11: 67,757,593	Y94*	probably null	Het
Gm15293	C	T	8: 21,201,758	S52F	probably damaging	Het
Gsdmc	A	G	15: 63,804,380		probably null	Het
Gtpbp4	C	A	13: 8,985,217	D369Y	probably damaging	Het
H2-M1	A	G	17: 36,671,738	Y77H	probably benign	Het
Irx2	T	C	13: 72,632,610	V466A	possibly damaging	Het
Kcnh4	C	A	11: 100,752,253	W396L	probably damaging	Het
Kif27	T	C	13: 58,328,994	D614G	possibly damaging	Het
Kirrel2	C	A	7: 30,450,801		probably null	Het
Lcn5	A	G	2: 25,661,414	I182V	probably benign	Het
Ldb3	T	G	14: 34,566,858	S252R	probably damaging	Het
March8	G	A	6: 116,386,271		probably benign	Het
Mdn1	C	A	4: 32,756,512	Q4735K	probably benign	Het
Mfrp	A	T	9: 44,103,264	H236L	probably benign	Het
Mlph	A	G	1: 90,939,390	D378G	probably damaging	Het
Msi1	T	A	5: 115,450,885	Y320N	probably damaging	Het
Mtmr11	T	C	3: 96,163,250		probably benign	Het
Mtpap	T	C	18: 4,375,638	V6A	probably benign	Het
Nedd1	C	A	10: 92,695,031	D399Y	probably damaging	Het
Ninl	A	G	2: 150,939,909	Y234H	probably benign	Het
Nkx3-1	G	A	14: 69,190,918	G72S	probably benign	Het
Nle1	A	G	11: 82,904,937	V228A	probably benign	Het
Npy4r	T	A	14: 34,147,016	D105V	probably damaging	Het
Olfr1366	A	G	13: 21,537,982	Y8H	probably damaging	Het
Palld	C	T	8: 61,703,210	V464M	probably damaging	Het
Pclo	T	C	5: 14,669,221	V1124A	unknown	Het
Pex1	T	A	5: 3,609,924	M476K	probably benign	Het
Pkhd1l1	G	A	15: 44,504,025	S773N	probably benign	Het
Polrmt	A	G	10: 79,746,551	M1T	probably null	Het
Prmt9	A	G	8: 77,555,729	D85G	probably damaging	Het
Ptpn12	T	A	5: 21,015,708		probably null	Het
Rbm19	T	A	5: 120,141,566	M766K	probably damaging	Het
Rdh11	A	G	12: 79,188,606	V72A	probably benign	Het
Rxfp3	A	G	15: 11,036,281	V335A	probably damaging	Het
Sema6a	T	C	18: 47,298,251	K127E	possibly damaging	Het
Slc5a1	C	T	5: 33,160,782	T593I	probably benign	Het
Slco1a1	A	G	6: 141,923,099	F380L	probably benign	Het
Smc2	T	C	4: 52,450,826	S215P	probably damaging	Het
Smyd4	C	T	11: 75,382,294	S60L	probably benign	Het
Spata18	T	A	5: 73,678,993	V419E	probably damaging	Het
Terb1	A	G	8: 104,482,318	L376S	probably damaging	Het
Timd2	T	C	11: 46,682,790	E129G	possibly damaging	Het
Topbp1	C	A	9: 103,320,605	T461K	probably benign	Het
Tpp2	G	A	1: 43,992,268	R1069Q	probably damaging	Het
Ttn	A	G	2: 76,753,945	V22273A	probably damaging	Het
Tulp4	G	A	17: 6,198,813	E36K	probably damaging	Het
Uqcrfs1	A	T	13: 30,540,763	F265I	probably damaging	Het
Vmn2r107	A	T	17: 20,375,141	Q652L	probably damaging	Het
Vwf	C	T	6: 125,667,483	R2434*	probably null	Het
Wdhd1	A	G	14: 47,268,689	V256A	possibly damaging	Het
Zfp442	A	T	2: 150,408,495	C439S	probably damaging	Het
Zfp709	A	G	8: 71,889,788	T354A	probably benign	Het
Zswim2	A	T	2: 83,925,110	I149N	probably damaging	Het

Other mutations in Smyd2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00480:Smyd2	APN	1	189899846	missense	probably damaging	1.00
IGL01060:Smyd2	APN	1	189897470	missense	possibly damaging	0.66
IGL01938:Smyd2	APN	1	189888882	missense	probably benign	0.05
IGL02113:Smyd2	APN	1	189882217	missense	probably damaging	0.99
IGL03075:Smyd2	APN	1	189888832	missense	probably damaging	0.98
R0739:Smyd2	UTSW	1	189888862	missense	possibly damaging	0.50
R2108:Smyd2	UTSW	1	189897426	missense	probably damaging	1.00
R2497:Smyd2	UTSW	1	189885337	missense	possibly damaging	0.93
R4466:Smyd2	UTSW	1	189882152	missense	probably benign	0.09
R4605:Smyd2	UTSW	1	189897426	missense	probably damaging	1.00
R4672:Smyd2	UTSW	1	189909904	missense	probably damaging	1.00
R4872:Smyd2	UTSW	1	189896650	missense	probably damaging	1.00
R5419:Smyd2	UTSW	1	189909893	nonsense	probably null
R5660:Smyd2	UTSW	1	189885382	missense	possibly damaging	0.95
R6271:Smyd2	UTSW	1	189883852	missense	probably damaging	1.00
R8291:Smyd2	UTSW	1	189900091	intron	probably benign
R8820:Smyd2	UTSW	1	189899821	missense	probably benign	0.03
R9011:Smyd2	UTSW	1	189896636	missense	probably damaging	0.99
R9612:Smyd2	UTSW	1	189880786	makesense	probably null

Predicted Primers

PCR Primer
(F):5'- CCAGGATGACATGACCAGAG -3'
(R):5'- GTTTTGATGCAGCCTCATCC -3'

Sequencing Primer
(F):5'- GTAGTCCACAGCGAGTCAC -3'
(R):5'- TTTGATGCAGCCTCATCCAAAAGG -3'

Posted On

2016-04-27