Incidental Mutation 'IGL01645:Myoz2'
ID 102613
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 # IGL01645
Quality Score
Status
Chromosome 3
Chromosomal Location 122799855-122828649 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 122827881 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Asparagine at position 12 (K12N)
Ref Sequence ENSEMBL: ENSMUSP00000029761 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029761] [ENSMUST00000141588]
AlphaFold Q9JJW5
Predicted Effect probably damaging
Transcript: ENSMUST00000029761
AA Change: K12N

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000029761
Gene: ENSMUSG00000028116
AA Change: K12N

DomainStartEndE-ValueType
Pfam:Calsarcin 1 264 1.3e-89 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000140231
Predicted Effect probably damaging
Transcript: ENSMUST00000141588
AA Change: K12N

PolyPhen 2 Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)
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: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc8 C T 7: 45,764,477 (GRCm39) C1156Y possibly damaging Het
Armh4 T C 14: 50,011,011 (GRCm39) E232G probably damaging Het
Atp8b1 G A 18: 64,679,184 (GRCm39) H766Y probably benign Het
Cacna2d1 C A 5: 16,217,389 (GRCm39) probably null Het
Card11 T A 5: 140,863,778 (GRCm39) T987S probably benign Het
Dennd2b T A 7: 109,126,841 (GRCm39) K540* probably null Het
Dmxl2 A T 9: 54,286,017 (GRCm39) Y2723N possibly damaging Het
Dnah11 T A 12: 118,150,733 (GRCm39) I342F possibly damaging Het
Dnajc10 A G 2: 80,170,871 (GRCm39) H454R possibly damaging Het
Dpy19l3 T C 7: 35,394,763 (GRCm39) T592A probably benign Het
Eea1 T A 10: 95,825,451 (GRCm39) S49T probably damaging Het
Esd T A 14: 74,987,159 (GRCm39) N294K probably benign Het
Fmo3 A G 1: 162,791,575 (GRCm39) V234A possibly damaging Het
Folh1 A G 7: 86,391,435 (GRCm39) F420L probably damaging Het
Gabra1 T C 11: 42,026,389 (GRCm39) N301S probably damaging Het
Gm5422 A T 10: 31,126,069 (GRCm39) noncoding transcript Het
Gorab A T 1: 163,214,000 (GRCm39) L310Q possibly damaging Het
Gsdme A G 6: 50,228,316 (GRCm39) Y51H probably damaging Het
Hrob T C 11: 102,146,012 (GRCm39) L96P probably damaging Het
Itpr1 T C 6: 108,450,560 (GRCm39) I1964T possibly damaging Het
Lmbr1 A G 5: 29,440,053 (GRCm39) L410P probably damaging Het
Lrrc37a T C 11: 103,395,090 (GRCm39) R112G probably benign Het
Mrgpra6 T C 7: 46,835,681 (GRCm39) T247A probably benign Het
Mroh4 A G 15: 74,483,207 (GRCm39) probably benign Het
Mycbpap T C 11: 94,394,293 (GRCm39) probably null Het
Odad2 T C 18: 7,268,491 (GRCm39) S343G probably benign Het
Or1d2 T C 11: 74,256,359 (GRCm39) I288T possibly damaging Het
P3h1 T G 4: 119,093,980 (GRCm39) F212V probably damaging Het
Pcnx2 T C 8: 126,614,656 (GRCm39) D265G probably damaging Het
Pkd1l3 C T 8: 110,361,934 (GRCm39) T992I possibly damaging Het
Prss58 T C 6: 40,874,244 (GRCm39) D144G probably damaging Het
Pth2 T A 7: 44,830,764 (GRCm39) L29Q possibly damaging Het
Rab1b A C 19: 5,154,962 (GRCm39) probably benign Het
Rasa2 A T 9: 96,464,834 (GRCm39) C190* probably null Het
Scn9a T C 2: 66,317,986 (GRCm39) K1501E possibly damaging Het
Selenoi A G 5: 30,462,821 (GRCm39) probably benign Het
Slc11a2 T C 15: 100,286,999 (GRCm39) N558S probably benign Het
Sox10 T C 15: 79,040,539 (GRCm39) I173V probably benign Het
Sra1 A C 18: 36,804,526 (GRCm39) F476C probably damaging Het
Tmem119 T A 5: 113,933,409 (GRCm39) K131* probably null Het
Trim12c T A 7: 103,994,261 (GRCm39) K198* probably null Het
Ttn A G 2: 76,681,904 (GRCm39) probably benign Het
Unc119b C T 5: 115,265,371 (GRCm39) V154I probably benign Het
Usp47 T A 7: 111,654,069 (GRCm39) S108R probably damaging Het
Vmn1r15 T A 6: 57,235,547 (GRCm39) C138* probably null Het
Vmn1r191 T C 13: 22,363,614 (GRCm39) I47V probably benign Het
Wnt3 C T 11: 103,703,204 (GRCm39) A229V probably benign 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
IGL01759:Myoz2 APN 3 122,807,430 (GRCm39) missense possibly damaging 0.95
IGL03167:Myoz2 APN 3 122,800,139 (GRCm39) nonsense probably null
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 2014-01-21