Mutagenetix > Incidental Mutations

Incidental Mutation 'R4605:Smyd2'

345956

Institutional Source

Beutler Lab

Gene Symbol

Smyd2

Ensembl Gene

ENSMUSG00000026603

Gene Name

SET and MYND domain containing 2

Synonyms

Zmynd14, KMT3C, 1110020E07Rik

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4605 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

189880492-189922363 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 189897426 bp

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 136 (S136P)

Ref Sequence

ENSEMBL: ENSMUSP00000027897 (fasta)

Gene Model

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

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: S136P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000027897
Gene: ENSMUSG00000026603
AA Change: S136P

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: ENSMUST00000144452

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.2%
20x: 95.1%

Validation Efficiency

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: 34 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4931408C20Rik	T	C	1: 26,683,186	K971R	probably benign	Het
Ankra2	A	G	13: 98,266,234		probably benign	Het
Atp9b	T	A	18: 80,753,149		probably null	Het
Birc6	G	A	17: 74,639,934	D2885N	probably damaging	Het
Chaf1b	A	T	16: 93,888,089	N142I	possibly damaging	Het
Ckap5	G	A	2: 91,576,214	G787S	probably damaging	Het
Ctc1	G	T	11: 69,029,726	C372F	possibly damaging	Het
Dip2b	A	G	15: 100,209,636	T1176A	probably benign	Het
Epha10	A	G	4: 124,885,757	E132G	probably damaging	Het
Extl1	A	G	4: 134,359,834	V471A	probably benign	Het
Fgd6	T	C	10: 94,044,355	L357P	probably benign	Het
Gapvd1	A	T	2: 34,728,537	C275S	probably damaging	Het
Kcnj2	G	A	11: 111,072,850	C356Y	probably damaging	Het
Kcnk10	T	C	12: 98,489,960	D204G	probably damaging	Het
Krtap9-1	A	C	11: 99,873,753	E105A	unknown	Het
Loxhd1	G	A	18: 77,405,946	V668I	probably benign	Het
Ly86	T	C	13: 37,375,011	I62T	possibly damaging	Het
Maip1	A	G	1: 57,411,732	I178V	probably benign	Het
Mical3	G	A	6: 121,034,080	Q386*	probably null	Het
Olfr1057	G	A	2: 86,374,797	T205I	probably benign	Het
Olfr1461	T	A	19: 13,165,248	V78D	probably damaging	Het
Olfr235	T	C	19: 12,269,168	*313Q	probably null	Het
Olfr472	A	C	7: 107,903,238	I174L	probably benign	Het
Pcdha12	T	C	18: 37,021,523	S432P	probably damaging	Het
Prex1	A	T	2: 166,713,544	Y59N	probably benign	Het
Sbf1	A	G	15: 89,303,481	F654L	probably damaging	Het
Sh2d5	T	A	4: 138,257,255	Y187*	probably null	Het
Slc9a4	T	C	1: 40,601,035		probably null	Het
Srsf11	A	T	3: 158,022,923	L115*	probably null	Het
Tbx19	C	T	1: 165,153,584	V114I	possibly damaging	Het
Unc5b	A	G	10: 60,774,403	V545A	probably benign	Het
Ush2a	A	G	1: 188,910,801	Y4120C	probably damaging	Het
Vps13a	T	C	19: 16,640,039	T3002A	probably damaging	Het
Zkscan2	A	T	7: 123,498,724	W150R	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
R4672:Smyd2	UTSW	1	189909904	missense	probably damaging	1.00
R4872:Smyd2	UTSW	1	189896650	missense	probably damaging	1.00
R4963:Smyd2	UTSW	1	189882188	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

Predicted Primers

PCR Primer
(F):5'- CTAGCGTGTCCTGACAGACTTG -3'
(R):5'- AAAATAAGCCCTTTGGATCTGGAG -3'

Sequencing Primer
(F):5'- TGACAGACTTGTACACTCGGG -3'
(R):5'- CAAGTGTGGACTCCTCAAGTAG -3'

Posted On

2015-09-25