Incidental Mutation 'IGL00766:Myoz2'
ID12747
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Myoz2
Ensembl Gene ENSMUSG00000028116
Gene Namemyozenin 2
Synonymscalsarcin-1, 1110012I24Rik, Fatz-2
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.099) question?
Stock #IGL00766
Quality Score
Status
Chromosome3
Chromosomal Location123006206-123035015 bp(-) (GRCm38)
Type of Mutationsplice site
DNA Base Change (assembly) G to A at 123016544 bp
ZygosityHeterozygous
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

DomainStartEndE-ValueType
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
GeneRefVarChr/LocMutationPredicted EffectZygosity
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
AlleleSourceChrCoordTypePredicted EffectPPH 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 On2012-12-06