Mutagenetix > Incidental Mutation

Incidental Mutation 'R8820:Smyd2'

672962

Institutional Source

Beutler Lab

Gene Symbol

Smyd2

Ensembl Gene

ENSMUSG00000026603

Gene Name

SET and MYND domain containing 2

Synonyms

Zmynd14, 1110020E07Rik, KMT3C

MMRRC Submission

068653-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8820 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

189612689-189654560 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 189632018 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Asparagine at position 115 (K115N)

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 benign
Transcript: ENSMUST00000027897
AA Change: K115N

PolyPhen 2 Score 0.034 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000027897
Gene: ENSMUSG00000026603
AA Change: K115N

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

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.4%

Validation Efficiency

100% (58/58)

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: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca17	A	G	17: 24,547,576 (GRCm39)	L266P	probably damaging	Het
Abcb1a	A	T	5: 8,773,204 (GRCm39)	T811S	possibly damaging	Het
Als2cl	T	C	9: 110,714,855 (GRCm39)	F125L	probably benign	Het
Arhgap33	T	C	7: 30,228,165 (GRCm39)	I406V	probably benign	Het
Cdyl	T	C	13: 36,042,174 (GRCm39)	I404T	probably damaging	Het
Cemip2	G	A	19: 21,784,818 (GRCm39)	V434M	probably damaging	Het
Clasrp	C	T	7: 19,320,362 (GRCm39)	R432H	unknown	Het
Clk2	T	A	3: 89,082,730 (GRCm39)	M392K	probably damaging	Het
Cps1	T	A	1: 67,267,439 (GRCm39)	N1402K	possibly damaging	Het
Cyp2u1	T	C	3: 131,092,016 (GRCm39)	H168R	probably damaging	Het
Dapl1	T	C	2: 59,335,056 (GRCm39)	L70P	probably damaging	Het
Ddr2	T	A	1: 169,805,483 (GRCm39)	K836*	probably null	Het
Dsel	A	G	1: 111,787,994 (GRCm39)	L847P	probably benign	Het
Fbxw17	A	T	13: 50,587,351 (GRCm39)	K437M	possibly damaging	Het
Fktn	T	C	4: 53,735,001 (GRCm39)	V174A	possibly damaging	Het
Frem1	C	A	4: 82,821,754 (GRCm39)	S2118I	probably damaging	Het
Fzd8	G	A	18: 9,213,247 (GRCm39)	V110M	unknown	Het
Gabrb3	T	C	7: 57,442,329 (GRCm39)	S212P	probably damaging	Het
Gimap9	A	G	6: 48,654,821 (GRCm39)	D136G	probably benign	Het
Gldc	C	G	19: 30,078,212 (GRCm39)	M928I	probably benign	Het
Hmmr	G	A	11: 40,612,499 (GRCm39)	S206F	probably damaging	Het
Ift46	C	T	9: 44,701,819 (GRCm39)	T283I	probably damaging	Het
Il36b	C	T	2: 24,049,892 (GRCm39)	Q168*	probably null	Het
Ldb2	G	A	5: 44,956,757 (GRCm39)	Q27*	probably null	Het
Lmcd1	T	A	6: 112,306,770 (GRCm39)	I314N	probably damaging	Het
Lypd9	T	G	11: 58,337,129 (GRCm39)	S115R	probably damaging	Het
Mctp2	C	A	7: 71,879,081 (GRCm39)	V259L	probably benign	Het
Midn	T	G	10: 79,990,234 (GRCm39)	S302A	probably damaging	Het
Ncor2	A	G	5: 125,106,291 (GRCm39)	V797A		Het
Npm2	A	G	14: 70,885,768 (GRCm39)	S146P	probably damaging	Het
Npr1	G	A	3: 90,372,201 (GRCm39)	R204C	probably damaging	Het
Or1j10	T	C	2: 36,267,006 (GRCm39)	S73P	probably damaging	Het
Or1n1b	C	A	2: 36,780,622 (GRCm39)	M79I	probably benign	Het
Or52n3	T	A	7: 104,530,862 (GRCm39)	V316D	possibly damaging	Het
Or6e1	C	T	14: 54,520,070 (GRCm39)	G94D	probably benign	Het
Orc2	T	C	1: 58,515,639 (GRCm39)	N290D	probably benign	Het
Paip2b	A	C	6: 83,791,738 (GRCm39)	M48R	probably damaging	Het
Pcdhb15	T	A	18: 37,606,971 (GRCm39)	S68T	probably benign	Het
Pcnx1	T	A	12: 82,020,022 (GRCm39)	H715Q		Het
Pcsk2	T	A	2: 143,642,990 (GRCm39)	H422Q	probably damaging	Het
Pdzph1	G	C	17: 59,187,715 (GRCm39)	Y1168*	probably null	Het
Peli2	G	A	14: 48,490,130 (GRCm39)	E201K	possibly damaging	Het
Prelp	T	C	1: 133,842,878 (GRCm39)	N89S	probably damaging	Het
Proz	T	A	8: 13,113,253 (GRCm39)	F25I	probably damaging	Het
Rapgef3	T	C	15: 97,646,538 (GRCm39)	N799S	probably benign	Het
Relch	T	A	1: 105,654,179 (GRCm39)	F873L	possibly damaging	Het
Ryr3	G	A	2: 112,466,137 (GRCm39)	R4795W	probably damaging	Het
Ryr3	A	G	2: 112,690,069 (GRCm39)	V1180A	probably benign	Het
Scn11a	T	C	9: 119,645,586 (GRCm39)	I123V	probably benign	Het
Sema4b	G	C	7: 79,870,248 (GRCm39)	E475D	probably damaging	Het
Serinc2	C	A	4: 130,149,172 (GRCm39)	M343I	probably damaging	Het
Serinc5	G	T	13: 92,844,544 (GRCm39)	V429F	probably benign	Het
Tenm3	T	G	8: 48,763,759 (GRCm39)	D765A	probably damaging	Het
Unc13d	AATGCCTCCCATGCC	AATGCCTCCCATGCCTCCCATGCC	11: 115,958,998 (GRCm39)		probably benign	Het
Ythdc2	C	T	18: 44,967,531 (GRCm39)	R176*	probably null	Het
Zfp27	T	C	7: 29,594,013 (GRCm39)	K651E	probably benign	Het

Other mutations in Smyd2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00480:Smyd2	APN	1	189,632,043 (GRCm39)	missense	probably damaging	1.00
IGL01060:Smyd2	APN	1	189,629,667 (GRCm39)	missense	possibly damaging	0.66
IGL01938:Smyd2	APN	1	189,621,079 (GRCm39)	missense	probably benign	0.05
IGL02113:Smyd2	APN	1	189,614,414 (GRCm39)	missense	probably damaging	0.99
IGL03075:Smyd2	APN	1	189,621,029 (GRCm39)	missense	probably damaging	0.98
R0739:Smyd2	UTSW	1	189,621,059 (GRCm39)	missense	possibly damaging	0.50
R2108:Smyd2	UTSW	1	189,629,623 (GRCm39)	missense	probably damaging	1.00
R2497:Smyd2	UTSW	1	189,617,534 (GRCm39)	missense	possibly damaging	0.93
R4466:Smyd2	UTSW	1	189,614,349 (GRCm39)	missense	probably benign	0.09
R4605:Smyd2	UTSW	1	189,629,623 (GRCm39)	missense	probably damaging	1.00
R4672:Smyd2	UTSW	1	189,642,101 (GRCm39)	missense	probably damaging	1.00
R4872:Smyd2	UTSW	1	189,628,847 (GRCm39)	missense	probably damaging	1.00
R4963:Smyd2	UTSW	1	189,614,385 (GRCm39)	missense	probably damaging	1.00
R5419:Smyd2	UTSW	1	189,642,090 (GRCm39)	nonsense	probably null
R5660:Smyd2	UTSW	1	189,617,579 (GRCm39)	missense	possibly damaging	0.95
R6271:Smyd2	UTSW	1	189,616,049 (GRCm39)	missense	probably damaging	1.00
R8291:Smyd2	UTSW	1	189,632,288 (GRCm39)	intron	probably benign
R9011:Smyd2	UTSW	1	189,628,833 (GRCm39)	missense	probably damaging	0.99
R9612:Smyd2	UTSW	1	189,612,983 (GRCm39)	makesense	probably null

Predicted Primers

PCR Primer
(F):5'- ATGTTCCTCTTCTGGGGCAC -3'
(R):5'- GACGTACTGCAGGTCTCTTC -3'

Sequencing Primer
(F):5'- TCTTCTGGGGCACGAAGGAG -3'
(R):5'- GACGTACTGCAGGTCTCTTCATACC -3'

Posted On

2021-04-30