|Institutional Source||Beutler Lab|
|Gene Name||membrane protein, palmitoylated 7 (MAGUK p55 subfamily member 7)|
|Synonyms||2810038M04Rik, LOC381166, 1110068J02Rik, 5430426E14Rik|
|Is this an essential gene?||Probably non essential (E-score: 0.143)|
|Stock #||R8373 (G1)|
|Chromosomal Location||7347962-7626863 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to G at 7444096 bp|
|Amino Acid Change||Serine to Proline at position 109 (S109P)|
|Ref Sequence||ENSEMBL: ENSMUSP00000111535 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000115869]|
|Predicted Effect||probably damaging
AA Change: S109P
PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
AA Change: S109P
|Coding Region Coverage||
|MGI Phenotype||FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of the p55 Stardust family of membrane-associated guanylate kinase (MAGUK) proteins, which function in the establishment of epithelial cell polarity. This family member forms a complex with the polarity protein DLG1 (discs, large homolog 1) and facilitates epithelial cell polarity and tight junction formation. Polymorphisms in this gene are associated with variations in site-specific bone mineral density (BMD). Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2015]|
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Mpp7||
(F):5'- TTACGGTGTAGGGGCTCAGAAG -3'
(R):5'- AGGTCTGCCTTCCACAATCC -3'
(F):5'- ATCTGATTTGGCTCCCTGTGAGATC -3'
(R):5'- TGCCTTCCACAATCCCACAGG -3'