Mutagenetix > Incidental Mutation

Incidental Mutation 'R5395:Smyd1'

426115

Institutional Source

Beutler Lab

Gene Symbol

Smyd1

Ensembl Gene

ENSMUSG00000055027

Gene Name

SET and MYND domain containing 1

Synonyms

Bop, 4632404M21Rik

MMRRC Submission

042967-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5395 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

71190924-71239265 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 71196374 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Threonine at position 338 (K338T)

Ref Sequence

ENSEMBL: ENSMUSP00000073911 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000074301] [ENSMUST00000114186] [ENSMUST00000114188] [ENSMUST00000173730]

AlphaFold

P97443

PDB Structure

Crystal structure of cardiac specific histone methyltransferase SmyD1 [X-RAY DIFFRACTION]

Predicted Effect

possibly damaging
Transcript: ENSMUST00000074301
AA Change: K338T

PolyPhen 2 Score 0.947 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000073911
Gene: ENSMUSG00000055027
AA Change: K338T

Domain	Start	End	E-Value	Type
SET	7	259	2.79e-21	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000114186
AA Change: K325T

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000109824
Gene: ENSMUSG00000055027
AA Change: K325T

Domain	Start	End	E-Value	Type
SET	7	246	2.45e-17	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000114188
AA Change: K304T

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000109826
Gene: ENSMUSG00000055027
AA Change: K304T

Domain	Start	End	E-Value	Type
Pfam:zf-MYND	18	56	5.4e-11	PFAM
SET	76	225	1.53e-9	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000173730

SMART Domains

Protein: ENSMUSP00000134399
Gene: ENSMUSG00000055027

Domain	Start	End	E-Value	Type
PDB:3N71\|A	5	58	3e-30	PDB

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.7%

Validation Efficiency

MGI Phenotype

PHENOTYPE: Homozygous mutation of this gene results in embryonic lethality at E10.5. Mutant embryos exhibit an enlarged heart and developmental abnormalities of the right ventricle. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca4	A	G	3: 121,874,590 (GRCm39)	I268V	probably benign	Het
Actn1	T	A	12: 80,217,477 (GRCm39)	I782F	probably benign	Het
Adamdec1	A	C	14: 68,808,352 (GRCm39)	S333A	probably benign	Het
Agbl5	C	A	5: 31,047,682 (GRCm39)	T58N	probably damaging	Het
Apoo-ps	T	A	13: 107,550,993 (GRCm39)		noncoding transcript	Het
Arhgef10l	T	C	4: 140,297,601 (GRCm39)	N277S	probably benign	Het
Ascc2	A	G	11: 4,609,273 (GRCm39)	E241G	possibly damaging	Het
Atp13a4	A	T	16: 29,239,706 (GRCm39)	Y835*	probably null	Het
Atp13a4	A	G	16: 29,275,422 (GRCm39)	V354A	possibly damaging	Het
Bcas3	T	C	11: 85,716,075 (GRCm39)	S426P	probably damaging	Het
Birc2	T	C	9: 7,861,175 (GRCm39)	R48G	probably damaging	Het
Cacna2d4	T	C	6: 119,248,379 (GRCm39)	S397P	possibly damaging	Het
Ccng2	T	C	5: 93,417,257 (GRCm39)	M91T	possibly damaging	Het
Clk3	G	A	9: 57,660,622 (GRCm39)	T473M	probably damaging	Het
Cog2	T	A	8: 125,271,960 (GRCm39)	H491Q	probably benign	Het
Cyp4f40	C	T	17: 32,888,827 (GRCm39)	T202I	probably benign	Het
Dennd1a	A	T	2: 37,692,140 (GRCm39)	F181I	probably damaging	Het
Fcrl6	G	T	1: 172,426,287 (GRCm39)	A170D	possibly damaging	Het
Fev	T	C	1: 74,921,823 (GRCm39)		probably null	Het
Flnb	A	G	14: 7,883,881 (GRCm38)	N369S	probably benign	Het
Flt3	A	G	5: 147,291,633 (GRCm39)	F606L	probably damaging	Het
Gdf9	T	C	11: 53,324,624 (GRCm39)	V131A	probably benign	Het
Gdnf	T	A	15: 7,864,165 (GRCm39)	L192Q	probably damaging	Het
Gjc2	A	T	11: 59,068,315 (GRCm39)	C56S	possibly damaging	Het
Gli3	T	C	13: 15,889,535 (GRCm39)	F550L	probably damaging	Het
Gm1110	T	C	9: 26,800,928 (GRCm39)	E422G	probably benign	Het
Gm14325	G	A	2: 177,474,777 (GRCm39)	H102Y	possibly damaging	Het
Gnb2	A	G	5: 137,526,788 (GRCm39)	S334P	probably damaging	Het
Icam2	A	T	11: 106,273,299 (GRCm39)		probably null	Het
Inca1	C	T	11: 70,581,264 (GRCm39)		probably null	Het
Itgb8	A	C	12: 119,134,476 (GRCm39)	C530W	probably damaging	Het
Lrp1	T	C	10: 127,431,166 (GRCm39)	D332G	probably damaging	Het
Ly75	A	T	2: 60,195,455 (GRCm39)	N234K	probably benign	Het
Mcm5	G	A	8: 75,849,654 (GRCm39)	S542N	probably benign	Het
Mcm9	A	T	10: 53,414,788 (GRCm39)	N97K	possibly damaging	Het
Morc2a	G	A	11: 3,638,232 (GRCm39)	R986H	possibly damaging	Het
Neu2	T	A	1: 87,524,397 (GRCm39)		probably null	Het
Nfatc1	G	A	18: 80,679,235 (GRCm39)	P718S	possibly damaging	Het
Nol6	G	A	4: 41,118,392 (GRCm39)		probably benign	Het
Or10j7	A	T	1: 173,011,247 (GRCm39)	Y251*	probably null	Het
Otogl	T	C	10: 107,652,999 (GRCm39)	N1118D	probably benign	Het
Pcdh15	T	A	10: 74,021,119 (GRCm39)	I111K	probably damaging	Het
Phkb	A	G	8: 86,744,097 (GRCm39)	D582G	probably damaging	Het
Piwil2	G	T	14: 70,632,846 (GRCm39)	N575K	probably benign	Het
Pou4f2	T	A	8: 79,161,701 (GRCm39)	I301F	probably damaging	Het
Prkd1	T	C	12: 50,438,215 (GRCm39)	N409S	probably damaging	Het
Ptpn21	T	G	12: 98,681,376 (GRCm39)	K86T	probably damaging	Het
Raly	T	A	2: 154,705,927 (GRCm39)		probably null	Het
Rangap1	A	G	15: 81,590,647 (GRCm39)	F482L	probably benign	Het
Rapgef1	T	A	2: 29,627,977 (GRCm39)	N1052K	probably damaging	Het
Rnf169	A	T	7: 99,584,367 (GRCm39)		probably null	Het
Sdr16c5	T	C	4: 4,016,277 (GRCm39)	S50G	probably benign	Het
Sin3a	G	A	9: 57,012,957 (GRCm39)	R612H	probably damaging	Het
Six6	T	A	12: 72,988,475 (GRCm39)	L216*	probably null	Het
Slc20a1	A	T	2: 129,050,257 (GRCm39)	N472Y	probably damaging	Het
Slc35d1	C	T	4: 103,068,572 (GRCm39)		probably null	Het
Slc45a2	C	T	15: 11,027,871 (GRCm39)	T480I	probably damaging	Het
Slc7a8	C	A	14: 54,970,734 (GRCm39)	G306*	probably null	Het
Slc9a8	T	A	2: 167,309,642 (GRCm39)	F335L	probably damaging	Het
Snd1	T	A	6: 28,526,183 (GRCm39)	V187E	probably damaging	Het
Spag9	T	G	11: 93,982,577 (GRCm39)		probably null	Het
Tnfsf9	C	A	17: 57,412,592 (GRCm39)	T54K	probably benign	Het
Trim24	T	G	6: 37,934,679 (GRCm39)	V798G	probably damaging	Het
Tyr	C	A	7: 87,121,698 (GRCm39)	A365S	probably damaging	Het
Usp43	T	A	11: 67,788,184 (GRCm39)		probably null	Het
Vmn2r55	T	C	7: 12,385,874 (GRCm39)	D702G	probably damaging	Het
Vmn2r72	A	G	7: 85,400,105 (GRCm39)	S315P	possibly damaging	Het
Wdr64	T	A	1: 175,583,164 (GRCm39)	F367I	probably damaging	Het
Zc3h7b	G	A	15: 81,656,702 (GRCm39)	R173K	possibly damaging	Het
Zfp493	T	A	13: 67,931,965 (GRCm39)	C21*	probably null	Het
Zfp825	T	C	13: 74,628,665 (GRCm39)	T284A	possibly damaging	Het
Zpbp2	T	A	11: 98,449,039 (GRCm39)	V275D	probably damaging	Het

Other mutations in Smyd1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02869:Smyd1	APN	6	71,198,007 (GRCm39)	unclassified	probably benign
IGL02901:Smyd1	APN	6	71,215,614 (GRCm39)	missense	probably benign	0.00
PIT4498001:Smyd1	UTSW	6	71,196,272 (GRCm39)	missense	probably benign	0.00
R0134:Smyd1	UTSW	6	71,193,749 (GRCm39)	missense	probably damaging	1.00
R1344:Smyd1	UTSW	6	71,239,151 (GRCm39)	missense	probably benign	0.36
R1418:Smyd1	UTSW	6	71,239,151 (GRCm39)	missense	probably benign	0.36
R1737:Smyd1	UTSW	6	71,193,875 (GRCm39)	missense	probably damaging	1.00
R1909:Smyd1	UTSW	6	71,216,563 (GRCm39)	missense	probably benign	0.34
R1978:Smyd1	UTSW	6	71,289,703 (GRCm39)	splice site	probably null
R2281:Smyd1	UTSW	6	71,215,660 (GRCm39)	missense	probably damaging	0.99
R2418:Smyd1	UTSW	6	71,216,537 (GRCm39)	missense	probably damaging	1.00
R4914:Smyd1	UTSW	6	71,196,321 (GRCm39)	missense	probably benign	0.00
R5589:Smyd1	UTSW	6	71,239,164 (GRCm39)	missense	probably damaging	1.00
R5663:Smyd1	UTSW	6	71,216,705 (GRCm39)	missense	probably benign
R6572:Smyd1	UTSW	6	71,202,396 (GRCm39)	missense	probably damaging	1.00
R7014:Smyd1	UTSW	6	71,215,611 (GRCm39)	missense	probably damaging	1.00
R7074:Smyd1	UTSW	6	71,214,359 (GRCm39)	missense	probably damaging	0.99
R8478:Smyd1	UTSW	6	71,193,811 (GRCm39)	missense	probably damaging	1.00
R8724:Smyd1	UTSW	6	71,193,767 (GRCm39)	missense	probably damaging	0.98
R8816:Smyd1	UTSW	6	71,192,868 (GRCm39)	missense	probably damaging	0.98
R9484:Smyd1	UTSW	6	71,202,450 (GRCm39)	missense	probably damaging	1.00
R9623:Smyd1	UTSW	6	71,192,808 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- CAAATGTGTGCCATCTCTTTGG -3'
(R):5'- AGCCACGCAGACCATTTTG -3'

Sequencing Primer
(F):5'- TCTTTGGCATCCCTGGAAC -3'
(R):5'- CGCAGACCATTTTGTTAGTTCAAACC -3'

Posted On

2016-08-04