Incidental Mutation 'IGL03167:Myoz2'
ID 411680
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
Essential gene? Probably non essential (E-score: 0.096) question?
Stock # IGL03167
Quality Score
Status
Chromosome 3
Chromosomal Location 122799855-122828649 bp(-) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) G to A at 122800139 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Stop codon at position 230 (R230*)
Ref Sequence ENSEMBL: ENSMUSP00000029761 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029761] [ENSMUST00000141588]
AlphaFold Q9JJW5
Predicted Effect probably null
Transcript: ENSMUST00000029761
AA Change: R230*
SMART Domains Protein: ENSMUSP00000029761
Gene: ENSMUSG00000028116
AA Change: R230*

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: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Agbl3 A C 6: 34,834,594 (GRCm39) K921T possibly damaging Het
Agtpbp1 A T 13: 59,679,894 (GRCm39) probably benign Het
Ankrd22 A T 19: 34,143,174 (GRCm39) M1K probably null Het
Ano5 G A 7: 51,235,259 (GRCm39) V698I probably damaging Het
Ccnh A G 13: 85,345,685 (GRCm39) probably benign Het
Col15a1 A T 4: 47,282,635 (GRCm39) I771F probably damaging Het
Dmrt1 T C 19: 25,523,257 (GRCm39) S203P possibly damaging Het
Exoc5 A T 14: 49,288,802 (GRCm39) V82E probably damaging Het
Ffar3 A T 7: 30,554,780 (GRCm39) V180E probably damaging Het
Fhad1 T C 4: 141,700,108 (GRCm39) S381G probably benign Het
Foxf1 C A 8: 121,811,647 (GRCm39) Y170* probably null Het
Glis1 A G 4: 107,293,102 (GRCm39) D75G possibly damaging Het
Gpr151 T C 18: 42,711,439 (GRCm39) H413R probably benign Het
Gtf3c1 T C 7: 125,269,752 (GRCm39) probably null Het
Htt T A 5: 34,976,330 (GRCm39) F711I probably damaging Het
Il1rapl1 A G X: 85,790,867 (GRCm39) I691T possibly damaging Het
Iqgap2 T C 13: 95,821,406 (GRCm39) Y579C probably benign Het
Lingo3 A G 10: 80,671,178 (GRCm39) S251P probably damaging Het
Mbl1 T A 14: 40,880,543 (GRCm39) S144T probably benign Het
Musk A T 4: 58,366,821 (GRCm39) R462W possibly damaging Het
Mynn T C 3: 30,663,191 (GRCm39) L373P probably damaging Het
Nup35 A G 2: 80,488,660 (GRCm39) probably benign Het
Or14a259 C T 7: 86,013,128 (GRCm39) C139Y probably damaging Het
Or2d4 A G 7: 106,543,852 (GRCm39) S119P probably damaging Het
Or5ak4 C T 2: 85,161,664 (GRCm39) D193N probably benign Het
Or5m3 T A 2: 85,838,511 (GRCm39) Y130* probably null Het
Pira2 A T 7: 3,843,919 (GRCm39) S618T probably damaging Het
Plch1 G A 3: 63,630,165 (GRCm39) probably benign Het
Pparg T G 6: 115,450,188 (GRCm39) F396V probably damaging Het
Scaper T C 9: 55,767,108 (GRCm39) E441G probably damaging Het
Serpinb2 T A 1: 107,450,485 (GRCm39) C161S probably benign Het
Skint5 C T 4: 113,751,047 (GRCm39) E333K unknown Het
Slc22a8 C T 19: 8,587,322 (GRCm39) P461S probably damaging Het
Slc38a6 C T 12: 73,397,311 (GRCm39) Q318* probably null Het
Sycp2 T C 2: 178,021,291 (GRCm39) K512E probably damaging Het
Tas2r103 T A 6: 133,013,623 (GRCm39) N148Y probably damaging Het
Tcf7l1 A G 6: 72,609,979 (GRCm39) M257T possibly damaging Het
Tert T A 13: 73,788,119 (GRCm39) N792K probably damaging Het
Thada A T 17: 84,766,277 (GRCm39) V43E probably damaging Het
Trabd2b T C 4: 114,467,195 (GRCm39) S475P probably benign Het
Vmn2r117 A G 17: 23,696,681 (GRCm39) V242A probably damaging Het
Ypel3 A T 7: 126,379,247 (GRCm39) I107F probably damaging Het
Zfp352 T C 4: 90,112,939 (GRCm39) S360P probably damaging Het
Other mutations in Myoz2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00766:Myoz2 APN 3 122,810,193 (GRCm39) splice site probably benign
IGL01417:Myoz2 APN 3 122,800,081 (GRCm39) missense possibly damaging 0.65
IGL01645:Myoz2 APN 3 122,827,881 (GRCm39) missense probably damaging 1.00
IGL01759:Myoz2 APN 3 122,807,430 (GRCm39) missense possibly damaging 0.95
R1384:Myoz2 UTSW 3 122,819,765 (GRCm39) missense probably damaging 1.00
R1789:Myoz2 UTSW 3 122,819,776 (GRCm39) missense probably damaging 1.00
R1874:Myoz2 UTSW 3 122,819,765 (GRCm39) missense probably damaging 1.00
R1875:Myoz2 UTSW 3 122,819,765 (GRCm39) missense probably damaging 1.00
R2137:Myoz2 UTSW 3 122,827,861 (GRCm39) missense probably benign 0.00
R3881:Myoz2 UTSW 3 122,807,369 (GRCm39) missense probably damaging 0.98
R6730:Myoz2 UTSW 3 122,810,276 (GRCm39) missense probably damaging 0.98
R8265:Myoz2 UTSW 3 122,800,172 (GRCm39) missense probably benign 0.15
R8548:Myoz2 UTSW 3 122,827,916 (GRCm39) start codon destroyed possibly damaging 0.51
R8778:Myoz2 UTSW 3 122,800,156 (GRCm39) missense possibly damaging 0.55
R9021:Myoz2 UTSW 3 122,807,284 (GRCm39) utr 3 prime probably benign
R9775:Myoz2 UTSW 3 122,807,399 (GRCm39) missense probably damaging 1.00
Posted On 2016-08-02