Mutagenetix > Incidental Mutation

Incidental Mutation 'R5663:Smyd1'

444199

Institutional Source

Beutler Lab

Gene Symbol

Smyd1

Ensembl Gene

ENSMUSG00000055027

Gene Name

SET and MYND domain containing 1

Synonyms

Bop, 4632404M21Rik

MMRRC Submission

043306-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5663 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

71190924-71239265 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 71216705 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 14 (I14T)

Ref Sequence

ENSEMBL: ENSMUSP00000109826 (fasta)

Gene Model

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

AlphaFold

P97443

Predicted Effect

probably benign
Transcript: ENSMUST00000074301
AA Change: I48T

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000073911
Gene: ENSMUSG00000055027
AA Change: I48T

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

Predicted Effect

probably benign
Transcript: ENSMUST00000114186
AA Change: I48T

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000109824
Gene: ENSMUSG00000055027
AA Change: I48T

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

Predicted Effect

probably benign
Transcript: ENSMUST00000114188
AA Change: I14T

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000109826
Gene: ENSMUSG00000055027
AA Change: I14T

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

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.6%

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: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgra3	T	C	5: 50,156,627 (GRCm39)	N368D	probably benign	Het
Agfg1	T	A	1: 82,871,173 (GRCm39)	S444R	probably damaging	Het
Arhgap44	A	T	11: 64,915,117 (GRCm39)	F384I	probably damaging	Het
Atp8b2	T	C	3: 89,849,101 (GRCm39)	N1078D	probably benign	Het
Bcan	G	A	3: 87,902,920 (GRCm39)	T286I	probably damaging	Het
Cacna1d	A	G	14: 29,845,297 (GRCm39)	L624P	probably damaging	Het
Ccn5	G	A	2: 163,667,173 (GRCm39)	R58Q	probably damaging	Het
Cimip1	C	T	2: 173,369,690 (GRCm39)	P68L	probably damaging	Het
Dnah7c	C	A	1: 46,574,308 (GRCm39)	F994L	probably damaging	Het
Dpp6	A	G	5: 27,254,620 (GRCm39)	I12V	possibly damaging	Het
Edil3	A	G	13: 89,190,627 (GRCm39)	I101M	probably damaging	Het
Elapor1	T	C	3: 108,399,399 (GRCm39)	T64A	probably benign	Het
Farp2	T	C	1: 93,497,735 (GRCm39)	V255A	probably damaging	Het
Fhip1a	T	C	3: 85,579,740 (GRCm39)	T822A	probably benign	Het
Fzr1	A	G	10: 81,206,360 (GRCm39)	S137P	probably benign	Het
H2-Eb2	T	C	17: 34,552,382 (GRCm39)	F76L	possibly damaging	Het
Helb	A	G	10: 119,941,698 (GRCm39)	I330T	possibly damaging	Het
Il18rap	T	A	1: 40,570,717 (GRCm39)	C220S	probably damaging	Het
Kdm4c	T	C	4: 74,317,585 (GRCm39)	V966A	probably damaging	Het
Kdm5b	T	C	1: 134,558,373 (GRCm39)	V1460A	probably benign	Het
Kif15	T	A	9: 122,820,916 (GRCm39)		probably null	Het
Liat1	A	G	11: 75,891,047 (GRCm39)	K54E	probably damaging	Het
Lrrc37	A	G	11: 103,503,949 (GRCm39)	V497A	probably benign	Het
Masp1	T	C	16: 23,271,688 (GRCm39)	E621G	possibly damaging	Het
Mier1	T	A	4: 103,007,739 (GRCm39)	S285T	probably damaging	Het
Mroh6	A	G	15: 75,760,437 (GRCm39)	S46P	probably benign	Het
Myo1h	A	T	5: 114,472,155 (GRCm39)	Q395L	probably damaging	Het
Ndufb5	T	C	3: 32,801,898 (GRCm39)	I86T	possibly damaging	Het
Nelfb	T	A	2: 25,093,501 (GRCm39)	E417V	probably benign	Het
Nfkb1	T	G	3: 135,309,612 (GRCm39)	D494A	possibly damaging	Het
Nid1	G	A	13: 13,647,419 (GRCm39)	C395Y	probably damaging	Het
Nr4a3	G	T	4: 48,055,931 (GRCm39)	R319I	probably damaging	Het
Or2ag13	T	A	7: 106,472,877 (GRCm39)	T192S	probably benign	Het
Or4e1	A	T	14: 52,701,052 (GRCm39)	I138K	probably benign	Het
Or6f2	G	A	7: 139,756,234 (GRCm39)	C67Y	probably damaging	Het
Paqr5	A	G	9: 61,876,144 (GRCm39)	V130A	probably benign	Het
Phlpp2	G	A	8: 110,630,976 (GRCm39)	V207I	probably benign	Het
Pik3ca	C	T	3: 32,516,928 (GRCm39)	T1052M	probably damaging	Het
Pikfyve	T	C	1: 65,255,187 (GRCm39)	Y347H	probably benign	Het
Ptprz1	A	G	6: 23,035,142 (GRCm39)	H1964R	probably damaging	Het
Rassf7	C	T	7: 140,797,003 (GRCm39)	T72I	probably damaging	Het
Rfx3	A	G	19: 27,771,017 (GRCm39)	F603S	probably damaging	Het
Slc27a4	T	A	2: 29,702,382 (GRCm39)	V477D	probably damaging	Het
Slc9a3	A	C	13: 74,311,831 (GRCm39)	D593A	probably damaging	Het
Sox6	T	A	7: 115,149,289 (GRCm39)	I404L	probably benign	Het
Tas2r121	G	A	6: 132,677,520 (GRCm39)	H151Y	probably benign	Het
Tgfb1	C	T	7: 25,393,706 (GRCm39)	T192M	possibly damaging	Het
Ubr4	T	C	4: 139,155,894 (GRCm39)	Y2240H	possibly damaging	Het
Whrn	T	A	4: 63,336,685 (GRCm39)	N626Y	probably damaging	Het
Xrra1	T	A	7: 99,535,250 (GRCm39)	I185N	probably damaging	Het
Zfp94	G	A	7: 24,002,252 (GRCm39)	R397W	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
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
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'- ACCTGATGTTCTCGTTGGGC -3'
(R):5'- AATATGGGCAAAGGCACCC -3'

Sequencing Primer
(F):5'- GGGCACTTTCCCATATTTCTTGATGG -3'
(R):5'- TTCTTAGACCAGAGGCGTCGATC -3'

Posted On

2016-11-09