Mutagenetix > Incidental Mutation

Incidental Mutation 'R8478:Smyd1'

657368

Institutional Source

Beutler Lab

Gene Symbol

Smyd1

Ensembl Gene

ENSMUSG00000055027

Gene Name

SET and MYND domain containing 1

Synonyms

Bop, 4632404M21Rik

MMRRC Submission

067922-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R8478 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

71190924-71239265 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 71193811 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Glutamine at position 371 (H371Q)

Ref Sequence

ENSEMBL: ENSMUSP00000109826 (fasta)

Gene Model

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

AlphaFold

P97443

Predicted Effect

possibly damaging
Transcript: ENSMUST00000074301
AA Change: H405Q

PolyPhen 2 Score 0.921 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000073911
Gene: ENSMUSG00000055027
AA Change: H405Q

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

Predicted Effect

probably benign
Transcript: ENSMUST00000114186
AA Change: H392Q

PolyPhen 2 Score 0.027 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000109824
Gene: ENSMUSG00000055027
AA Change: H392Q

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000114188
AA Change: H371Q

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

SMART Domains

Protein: ENSMUSP00000109826
Gene: ENSMUSG00000055027
AA Change: H371Q

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: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.5%

Validation Efficiency

100% (66/66)

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: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actl11	A	T	9: 107,805,844 (GRCm39)	I56F	possibly damaging	Het
Adgrl3	G	T	5: 81,942,348 (GRCm39)	R1357L	possibly damaging	Het
Alpk1	T	A	3: 127,522,961 (GRCm39)	D27V	probably damaging	Het
Als2	T	C	1: 59,225,175 (GRCm39)	E986G	probably damaging	Het
Ankle2	T	A	5: 110,400,818 (GRCm39)	L717Q	possibly damaging	Het
Arl8b	A	G	6: 108,760,285 (GRCm39)	T24A	possibly damaging	Het
Atp2a1	A	G	7: 126,047,502 (GRCm39)	I718T	probably damaging	Het
Atp6v0e2	T	A	6: 48,517,031 (GRCm39)	N70K	probably benign	Het
Bcl11a	A	G	11: 24,115,086 (GRCm39)	S810G	probably damaging	Het
Bcl2a1d	T	G	9: 88,605,488 (GRCm39)	*173S	probably null	Het
Bltp1	A	T	3: 37,087,426 (GRCm39)	D511V	possibly damaging	Het
Cacna1g	A	G	11: 94,317,278 (GRCm39)	Y1494H	probably damaging	Het
Ccdc7a	T	C	8: 129,487,850 (GRCm39)	K186E	possibly damaging	Het
Cfap43	T	C	19: 47,764,515 (GRCm39)	I817V	probably benign	Het
Chd5	C	T	4: 152,441,147 (GRCm39)	R196*	probably null	Het
Chsy1	C	T	7: 65,820,748 (GRCm39)	H328Y	probably benign	Het
Clcn3	A	T	8: 61,372,522 (GRCm39)	S713T	probably benign	Het
Csrnp3	A	T	2: 65,708,400 (GRCm39)		probably null	Het
Dnhd1	A	G	7: 105,332,001 (GRCm39)	N86S	probably benign	Het
Epha3	T	C	16: 63,593,444 (GRCm39)	T215A	probably damaging	Het
Fgf1	T	C	18: 38,987,944 (GRCm39)		probably null	Het
Fosl1	T	C	19: 5,504,947 (GRCm39)	S145P	probably damaging	Het
Frem3	T	A	8: 81,338,187 (GRCm39)	V160E	probably damaging	Het
Galk2	A	T	2: 125,771,505 (GRCm39)	K177*	probably null	Het
Gria1	T	C	11: 57,200,668 (GRCm39)	Y782H	probably damaging	Het
Gria4	C	T	9: 4,793,882 (GRCm39)	E59K	probably damaging	Het
Ighv1-11	A	G	12: 114,575,919 (GRCm39)	Y99H	possibly damaging	Het
Insm2	A	T	12: 55,647,330 (GRCm39)	Y358F	probably damaging	Het
Marveld3	C	T	8: 110,688,600 (GRCm39)	G47D	probably damaging	Het
Mthfd1l	A	G	10: 4,098,064 (GRCm39)	D967G	probably damaging	Het
Nav2	G	T	7: 49,111,733 (GRCm39)	M746I	probably damaging	Het
Niban1	C	A	1: 151,512,263 (GRCm39)	T55K	possibly damaging	Het
Nmnat1	A	G	4: 149,557,841 (GRCm39)	I67T	possibly damaging	Het
Nub1	G	T	5: 24,906,422 (GRCm39)	R316L	probably benign	Het
Nxn	A	G	11: 76,164,869 (GRCm39)	V214A	probably damaging	Het
Or52n5	C	A	7: 104,588,477 (GRCm39)	S248Y	probably benign	Het
Pelp1	A	T	11: 70,285,146 (GRCm39)	D907E	unknown	Het
Pik3c2a	A	T	7: 116,017,584 (GRCm39)	S58T	probably damaging	Het
Pik3ca	A	G	3: 32,505,997 (GRCm39)	N703S	probably benign	Het
Polr3c	G	A	3: 96,624,066 (GRCm39)		probably benign	Het
Pon1	C	T	6: 5,185,318 (GRCm39)	G61R	probably damaging	Het
Pou2f1	A	T	1: 165,759,287 (GRCm39)	M1K	probably null	Het
Prkdc	T	A	16: 15,466,788 (GRCm39)	C90S	probably benign	Het
Prokr1	A	G	6: 87,558,330 (GRCm39)	Y352H	probably benign	Het
Rhod	C	T	19: 4,476,719 (GRCm39)	R134H	probably damaging	Het
Rufy3	C	T	5: 88,762,895 (GRCm39)	R110W	probably damaging	Het
Sema4c	A	T	1: 36,590,871 (GRCm39)	M460K	probably benign	Het
Slc46a3	T	C	5: 147,815,963 (GRCm39)	S455G	probably benign	Het
Steap1	A	G	5: 5,786,432 (GRCm39)	M335T	probably benign	Het
Suox	A	G	10: 128,506,921 (GRCm39)	V369A	probably damaging	Het
Thbs2	T	C	17: 14,900,666 (GRCm39)	I514V	probably benign	Het
Tie1	A	T	4: 118,341,979 (GRCm39)		probably null	Het
Tmem131l	T	C	3: 83,805,769 (GRCm39)	E1558G	probably damaging	Het
Tpcn1	G	T	5: 120,698,386 (GRCm39)	H45Q	probably benign	Het
Ush1c	A	G	7: 45,870,857 (GRCm39)	S327P	probably damaging	Het
Ush2a	G	A	1: 188,175,429 (GRCm39)	V1176M	possibly damaging	Het
Utrn	A	G	10: 12,524,892 (GRCm39)	M2197T	probably benign	Het
Vmn1r50	G	T	6: 90,085,071 (GRCm39)	C272F	probably benign	Het
Vmn2r10	A	T	5: 109,143,636 (GRCm39)	N771K	probably damaging	Het
Vmn2r2	A	T	3: 64,024,257 (GRCm39)	F691I	possibly damaging	Het
Vmn2r53	T	C	7: 12,340,281 (GRCm39)	Q64R	probably benign	Het
Vmn2r95	G	T	17: 18,672,544 (GRCm39)	L760F	probably damaging	Het
Wdr97	T	C	15: 76,247,629 (GRCm39)		probably null	Het
Xdh	C	A	17: 74,213,053 (GRCm39)	E863D	probably benign	Het
Ykt6	A	G	11: 5,912,407 (GRCm39)	Y120C	possibly damaging	Het
Zranb2	A	G	3: 157,251,745 (GRCm39)	*321W	probably null	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
R5395:Smyd1	UTSW	6	71,196,374 (GRCm39)	missense	possibly damaging	0.95
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
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'- TGAACCAGGTCTCCCATCTTAAG -3'
(R):5'- TGGTGCCTAATAGCAGTAGTGG -3'

Sequencing Primer
(F):5'- CAGGTCTCCCATCTTAAGAGATC -3'
(R):5'- AATGGTGCTATCCACAGGTC -3'

Posted On

2021-01-18