Ttn - SNV Details



 Human Rare Diseases 
Familial isolated arrhythmogenic ventricular dysplasia, left dominant form
Early-onset myopathy with fatal cardiomyopathy
Hereditary proximal myopathy with early respiratory failure
Tibial muscular dystrophy
Familial isolated dilated cardiomyopathy
Familial isolated arrhythmogenic ventricular dysplasia, right dominant form
Familial isolated arrhythmogenic ventricular dysplasia, biventricular form
Autosomal recessive limb-girdle muscular dystrophy type 2J

 Gene Information 
Gene Name Ttn
Old Gene Names for Ttn 2310036g12rik , D330041i19rik , 1100001c23rik , 2310057k23rik , 2310074i15rik , Af006999 , Av006427 , D830007g01rik
Gene Description titin [Source:MGI Symbol;Acc:MGI:98864]
MGI phenotype Homozygous mutant mice show embryogenesis defects in frontonasal mass, first branchial arch and somites, and vascular, cardiac and skeletal muscle defects causing growth retardation, muscle weakness, abnormal posture, and premature death ranging from embryonic day 11.5 to 8 weeks of age.
Uniprot Name
CCDS Name
Gene GO
muscle myosin complex; cardiac muscle fiber development; somitogenesis; enzyme binding; ankyrin binding; protein kinase activity; heart morphogenesis; skeletal muscle myosin thick filament assembly; protease binding; cytoplasm; striated muscle cell development; sarcomere organization; muscle contraction; muscle alpha-actinin binding; condensed nuclear chromosome; forward locomotion; cardiac muscle tissue morphogenesis; intracellular; adult heart development; A band; transferase activity
transferring phosphorus-containing groups; mitotic chromosome condensation; sarcomere; Rho guanyl-nucleotide exchange factor activity; protein binding; I band; skeletal muscle thin filament assembly; nucleus; cardiac myofibril assembly; protein self-association; actinin binding; in utero embryonic development; Z disc; calmodulin binding; striated muscle thin filament; regulation of protein kinase activity; regulation of Rho protein signal transduction; protein phosphorylation; actin filament binding; nucleic acid binding; protein tyrosine kinase activity; regulation of catalytic activity; structural constituent of cytoskeleton; ATP binding; sarcomerogenesis; identical protein binding; response to calcium ion; structural constituent of muscle; heart development; calcium ion binding; M band; cardiac muscle contraction; protein serine/threonine kinase activity; Golgi apparatus; cardiac muscle hypertrophy
Homolog in other species TTN
Omim http://omim.org/entry/188840
Immgen Expression
MEDIAN(HIGHER IN NK GROUP, T.DPSM.TH, T.8EFF.SP.OT1.D6.VSVOVA, T.8MEM.LN,TGD.SP,T.4FP3+25+.SP,T.4NVE.PP)
MEDIAN(HIGHER IN NK GROUP, T.DPSM.TH, T.8EFF.SP.OT1.D6.VSVOVA, T.8MEM.LN,TGD.SP,T.4FP3+25+.SP,T.4NVE.PP)
MEDIAN(HIGHER IN NK GROUP, T.8MEM.LN, TGD.SPT.4NVE.PP, T.4FP3+25+.SP)
Gnf Expression
MEDIAN
MEDIAN(HIGH IN RETINA, SPINALCORDLOWER, SPINALCORDUPPER, C2C12, EPIDERMIS TISSUES, BROWNFAT, HEART, SKELETALMUSCLE, IMM.G2, TRACHEA, PROSTATE)
MEDIAN(HIGH IN RETINA, SPINALCORDLOWER, SPINALCORDUPPER, C2C12, EPIDERMIS TISSUES, BROWNFAT, HEART, SKELETALMUSCLE, IMM.G2, TRACHEA, PROSTATE)
MEDIAN(HIGH IN C2C12, HEART, SKELETALMUSCLE)
MEDIAN(HIGH IN C2C12, HEART, SKELETALMUSCLE)
MEDIAN(HIGH IN C2C12, HEART, SKELETALMUSCLE)
HIGH
HIGH
HIGH
Novel Yes

 Mutation Information 
Mutation Type Splice
Ensembl ID ENSMUSG00000051747
Chromosome 2
Coordinate 76,859,451     (Assembly: GRCm38)    
Ref Base T
Var Base C
Zygosity Heterozygous
Read Depth 29
Allele Frequency
T:R0.62
C:V0.38
Amino Acid Change Disrupted splicing
Splice Position 9
Sample ID IGL02499
Median Base Quality 37
Backgrounds C57BL/6NCrl
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 58 Other Mutations

 Predictions 
Druggable Yes, View known drug interactions

 Availability Details 
Availability Progeny Cryopreserved