Jph1 - SNV Details



 Gene Information 
Gene Name Jph1
Old Gene Names for Jph1 Ensmusg00000054314
Gene Description junctophilin 1 [Source:MGI Symbol;Acc:MGI:1891495]
MGI phenotype Homozygotes for a targeted null mutation fail to suckle and die shortly after birth. Mutants exhibit deficiencies of triad junctions and contraction in skeletal muscle.
Uniprot Name
CCDS Name
Gene GO
muscle organ development; sarcoplasmic reticulum; integral to membrane; endoplasmic reticulum membrane; endoplasmic reticulum; nucleus; Z disc; plasma membrane; structural constituent of muscle; junctional membrane complex; junctional sarcoplasmic reticulum membrane
Homolog in other species JPH1
Omim http://omim.org/entry/605266
Immgen Expression
MEDIAN(LOWER IN TGD.VG5+.ACT.IEL)
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 ENSMUSG00000042686
Chromosome 1
Coordinate 17,091,757     (Assembly: GRCm38)    
Ref Base T
Codon Change gAa/gGa
Var Base C
Zygosity Heterozygous
Read Depth 98
Allele Frequency
T:R0.55
C:V0.45
Amino Acid Position 227
Amino Acid Change E->G (Glutamic acid -> Glycine)
Sample ID IGL02212
Median Base Quality 36
Backgrounds C57BL/6NCrl
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 72 Other Mutations

 Predictions 
Polyphen Score 0.02
Polyphen Prediction Benign
Sift Score 0.02
Sift Prediction deleterious

 Availability Details 
Availability Progeny Cryopreserved