|Institutional Source||Beutler Lab|
|Gene Name||junctophilin 1|
|Synonyms||ENSMUSG00000054314, mitsugumin72, JP-1|
|Is this an essential gene?||Possibly essential (E-score: 0.665)|
|Stock #||R4565 (G1)|
|Chromosomal Location||16964560-17097889 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to G at 17004202 bp|
|Amino Acid Change||Tyrosine to Histidine at position 531 (Y531H)|
|Ref Sequence||ENSEMBL: ENSMUSP00000039072 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000038382]|
|Predicted Effect||possibly damaging
AA Change: Y531H
PolyPhen 2 Score 0.909 (Sensitivity: 0.81; Specificity: 0.94)
AA Change: Y531H
AA Change: Y6H
|Predicted Effect||noncoding transcript
|Meta Mutation Damage Score||0.0587|
|Coding Region Coverage||
|Validation Efficiency||97% (37/38)|
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'- TGGCAACTGGTTTTGTCACAG -3'
(R):5'- TGAGTCAAGTCCCAAACAGAG -3'
(F):5'- GCAACTGGTTTTGTCACAGATTTAG -3'
(R):5'- AGAGCCACTCTCCCCAG -3'