Incidental Mutation 'IGL01417:Myoz2'
ID80432
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: 0.103) question?
Stock #IGL01417
Quality Score
Status
Chromosome3
Chromosomal Location123006206-123035015 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 123006432 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Isoleucine at position 249 (T249I)
Ref Sequence ENSEMBL: ENSMUSP00000029761 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029761] [ENSMUST00000141588]
Predicted Effect possibly damaging
Transcript: ENSMUST00000029761
AA Change: T249I

PolyPhen 2 Score 0.650 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000029761
Gene: ENSMUSG00000028116
AA Change: T249I

DomainStartEndE-ValueType
Pfam:Calsarcin 1 264 1.3e-89 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000141588
Predicted Effect noncoding transcript
Transcript: ENSMUST00000143464
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: 25 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Anxa13 T A 15: 58,356,194 noncoding transcript Het
Ctdsp2 T C 10: 126,993,874 I125T probably benign Het
Dnah7a T C 1: 53,584,600 K1044E probably benign Het
Edem2 T C 2: 155,728,978 Y44C probably damaging Het
Elmo1 T C 13: 20,251,175 probably null Het
Flnb T C 14: 7,905,513 S1088P probably damaging Het
Fmnl1 A G 11: 103,196,694 probably benign Het
Fv1 T A 4: 147,869,329 C117* probably null Het
Hmcn1 T C 1: 150,859,239 D174G probably damaging Het
Htatip2 G A 7: 49,770,825 V140I possibly damaging Het
Mill1 G T 7: 18,264,783 R306L probably benign Het
Nrd1 T C 4: 109,000,830 probably benign Het
Olfr457 T A 6: 42,472,112 H22L probably benign Het
Pcbp1 T C 6: 86,525,854 H21R probably damaging Het
Pdcd2l A C 7: 34,192,745 L221R probably damaging Het
Ppp1r3b A G 8: 35,384,412 E135G probably damaging Het
Rbsn T C 6: 92,207,119 E71G possibly damaging Het
Shc3 T C 13: 51,431,164 R472G probably benign Het
Sox8 A C 17: 25,567,528 probably null Het
Tacr3 A T 3: 134,829,546 I92F possibly damaging Het
Tacr3 G T 3: 134,829,481 W70L possibly damaging Het
Ubr4 A G 4: 139,410,800 N1156S probably damaging Het
Upk3b T C 5: 136,039,066 I37T possibly damaging Het
Vmn1r35 T A 6: 66,679,207 I160F probably benign Het
Vps50 T C 6: 3,522,377 probably benign Het
Other mutations in Myoz2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00766:Myoz2 APN 3 123016544 splice site probably benign
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
Posted On2013-11-05