Myo18b - SNV Details



 Gene Information 
Gene Name Myo18b
Old Gene Names for Myo18b 4932408l24rik , 4933411e19rik , Gm448
Gene Description myosin XVIIIb [Source:MGI Symbol;Acc:MGI:1921626]
MGI phenotype Mice homozygous for a null mutation display embryonic lethality during organogenesis with internal hemorrhage, pericaridal effusion, enlargement of the right atrium, and cardiac myofibril abnormalities.
Uniprot Name
CCDS Name
Gene GO
cardiac muscle fiber development; motor activity; cytoplasm; myosin complex; vasculogenesis; filamentous actin; protein binding; nucleus; in utero embryonic development; Z disc; nucleotide binding; ATP binding; molecular_function
Homolog in other species MYO18B
Omim http://omim.org/entry/607295
Immgen Expression
MEDIAN(LOWER IN DC8+.TH, TGD.VG5+.ACT.IEL)
MEDIAN(LOWER IN DC8+.TH, TGD.VG5+.ACT.IEL)
MEDIAN(LOWER IN DC8+.TH, TGD.VG5+.ACT.IEL)
MEDIAN(LOWER IN DC8+.TH, TGD.VG5+.ACT.IEL)
MEDIAN(LOWER IN TGD.VG5+.ACT.IEL)
MEDIAN(LOWER IN TGD.VG5+.ACT.IEL)
MEDIAN(LOWER IN TGD.VG5+.ACT.IEL)
MEDIAN(LOWER IN TGD.VG5+.ACT.IEL)
MEDIAN(LOWER IN TGD.VG5+.ACT.IEL)
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.DPSM.TH, T.8EFF.SP.OT1.D6.VSVOVA, T.8MEM.LN,TGD.SP,T.4FP3+25+.SP,T.4NVE.PP)
MEDIAN
HIGH
LOW
MEDIAN(HIGHER IN NK GROUP, T.8MEM.LN, TGD.SPT.4NVE.PP, T.4FP3+25+.SP)
MEDIAN(HIGHER IN NK GROUP, T.8MEM.LN, TGD.SPT.4NVE.PP, T.4FP3+25+.SP)
MEDIAN(HIGHER IN NK GROUP, T.8MEM.LN, TGD.SPT.4NVE.PP, T.4FP3+25+.SP)
MEDIAN(HIGHER IN NK GROUP, T.8MEM.LN, TGD.SPT.4NVE.PP, T.4FP3+25+.SP)
MEDIAN(HIGHER IN NK GROUP, T.8MEM.LN, TGD.SPT.4NVE.PP, T.4FP3+25+.SP)
Gnf Expression
MEDIAN(HIGH IN C2C12, HEART, SKELETALMUSCLE)
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000072720
Chromosome 5
Coordinate 112,830,312     (Assembly: GRCm38)    
Ref Base A
Codon Change gTg/gAg
Var Base T
Zygosity Heterozygous
Read Depth 15
Allele Frequency
A:R0.53
T:V0.47
Amino Acid Position 1248
Amino Acid Change V->E (Valine -> Glutamic acid)
Sample ID IGL02398
Median Base Quality 37
Backgrounds C57BL/6NCrl
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 52 Other Mutations

 Predictions 
Polyphen Score 0.98
Polyphen Prediction Probably damaging
Sift Score 0.92
Sift Prediction tolerated

 Availability Details 
Availability Progeny Cryopreserved