|Institutional Source||Beutler Lab|
|Gene Name||junctophilin 1|
|Synonyms||ENSMUSG00000054314, mitsugumin72, JP-1|
|Is this an essential gene?||Probably essential (E-score: 0.769)|
|Stock #||R1712 (G1)|
|Chromosomal Location||16964560-17097889 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||C to T at 17097232 bp|
|Amino Acid Change||Aspartic acid to Asparagine at position 125 (D125N)|
|Ref Sequence||ENSEMBL: ENSMUSP00000039072 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000038382]|
|Predicted Effect||possibly damaging
AA Change: D125N
PolyPhen 2 Score 0.575 (Sensitivity: 0.88; Specificity: 0.91)
AA Change: D125N
|Coding Region Coverage||
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Junctional complexes between the plasma membrane and endoplasmic/sarcoplasmic reticulum are a common feature of all excitable cell types and mediate cross talk between cell surface and intracellular ion channels. The protein encoded by this gene is a component of junctional complexes and is composed of a C-terminal hydrophobic segment spanning the endoplasmic/sarcoplasmic reticulum membrane and a remaining cytoplasmic domain that shows specific affinity for the plasma membrane. This gene is a member of the junctophilin gene family. [provided by RefSeq, Jul 2008]
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. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Jph1||
(F):5'- AAGTGACAGTGTCCTCTCTCCTGC -3'
(R):5'- AAGGTTCGACTTCGACGATGGC -3'
(F):5'- TATGGACAGCCTACCCGC -3'
(R):5'- CGAGGTGGTTGGAGTCTACAC -3'