Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL00766:Myoz2'

12747

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Myoz2

Ensembl Gene

ENSMUSG00000028116

Gene Name

myozenin 2

Synonyms

calsarcin-1, 1110012I24Rik, Fatz-2

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.099) question?

Stock #

IGL00766

Quality Score

Status

Chromosome

Chromosomal Location

123006206-123035015 bp(-) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

G to A at 123016544 bp

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000115450 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000029761] [ENSMUST00000141588]

Predicted Effect

probably benign
Transcript: ENSMUST00000029761

SMART Domains

Protein: ENSMUSP00000029761
Gene: ENSMUSG00000028116

Domain	Start	End	E-Value	Type
Pfam:Calsarcin	1	264	1.3e-89	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000103761

Predicted Effect

probably benign
Transcript: ENSMUST00000141588

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000143464

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000200514

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene belongs to a family of sarcomeric proteins that bind to calcineurin, a phosphatase involved in calcium-dependent signal transduction in diverse cell types. These family members tether calcineurin to alpha-actinin at the z-line of the sarcomere of cardiac and skeletal muscle cells, and thus they are important for calcineurin signaling. Mutations in this gene cause cardiomyopathy familial hypertrophic type 16, a hereditary heart disorder. [provided by RefSeq, Aug 2011]
PHENOTYPE: Homozygous null mutants show an excess of skeletal muscle fibers and chronically activated hypertrophic gene program despite the absence of hypertrophy. However, stressed null mutants do form cardiac hypertrophy. [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
2410089E03Rik	A	T	15: 8,252,164	Q2829L	unknown	Het
Adgrl3	T	A	5: 81,794,568	D1379E	probably damaging	Het
Akap13	A	G	7: 75,704,512	T1794A	probably damaging	Het
Ano2	A	T	6: 126,013,253	D779V	probably damaging	Het
Ap3b1	G	T	13: 94,542,884		probably benign	Het
Arfgef1	A	G	1: 10,199,787	V379A	probably benign	Het
Arhgef10	A	G	8: 14,975,006	Y398C	probably damaging	Het
Arid2	C	T	15: 96,370,405	R800C	probably benign	Het
Ccdc88a	T	A	11: 29,501,046	H306Q	probably damaging	Het
Cckar	C	A	5: 53,700,036	R344L	probably damaging	Het
Egfem1	A	G	3: 29,657,153	I237V	possibly damaging	Het
Erlec1	T	A	11: 30,950,623	K143*	probably null	Het
Glyat	T	G	19: 12,651,262	D140E	probably benign	Het
Gm4907	C	A	X: 23,906,599	A113E	probably benign	Het
Grhl2	T	C	15: 37,336,301	F50L	probably damaging	Het
Havcr2	T	C	11: 46,469,546	V151A	probably damaging	Het
Herc1	A	G	9: 66,450,741	Y2368C	probably damaging	Het
Ift80	A	T	3: 68,914,653	Y686*	probably null	Het
Itga7	G	T	10: 128,941,854	D235Y	possibly damaging	Het
Kctd3	C	T	1: 188,995,776	V199I	probably benign	Het
Mettl25	A	G	10: 105,779,582		probably benign	Het
Nepro	C	T	16: 44,729,305	Q43*	probably null	Het
Ophn1	T	C	X: 98,803,114	D74G	probably damaging	Het
Plau	A	G	14: 20,838,567	N84S	probably benign	Het
Rprd2	A	G	3: 95,765,379	V904A	possibly damaging	Het
Satl1	T	C	X: 112,405,769	K330E	possibly damaging	Het
Sis	C	T	3: 72,907,237		probably benign	Het
Slc5a5	A	C	8: 70,888,537	I386S	probably damaging	Het
Slco1c1	T	C	6: 141,547,883	Y264H	probably damaging	Het
Sulf1	A	C	1: 12,820,463	D375A	probably damaging	Het
Tgfbi	A	G	13: 56,630,595	D393G	probably benign	Het
Trim59	A	C	3: 69,037,379	D209E	probably benign	Het
Ubqln3	G	T	7: 104,142,824	Q20K	probably benign	Het
Ubr4	A	G	4: 139,440,766	D2808G	probably damaging	Het

Other mutations in Myoz2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01417:Myoz2	APN	3	123006432	missense	possibly damaging	0.65
IGL01645:Myoz2	APN	3	123034232	missense	probably damaging	1.00
IGL01759:Myoz2	APN	3	123013781	missense	possibly damaging	0.95
IGL03167:Myoz2	APN	3	123006490	nonsense	probably null
R1384:Myoz2	UTSW	3	123026116	missense	probably damaging	1.00
R1789:Myoz2	UTSW	3	123026127	missense	probably damaging	1.00
R1874:Myoz2	UTSW	3	123026116	missense	probably damaging	1.00
R1875:Myoz2	UTSW	3	123026116	missense	probably damaging	1.00
R2137:Myoz2	UTSW	3	123034212	missense	probably benign	0.00
R3881:Myoz2	UTSW	3	123013720	missense	probably damaging	0.98
R6730:Myoz2	UTSW	3	123016627	missense	probably damaging	0.98
R8265:Myoz2	UTSW	3	123006523	missense	probably benign	0.15
R8548:Myoz2	UTSW	3	123034267	start codon destroyed	possibly damaging	0.51

Posted On

2012-12-06