|Institutional Source||Beutler Lab|
|Is this an essential gene?||Non essential (E-score: 0.000)|
|Stock #||R0791 (G1)|
|Chromosomal Location||116220559-116238077 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to A at 116227723 bp|
|Amino Acid Change||Glutamine to Leucine at position 686 (Q686L)|
|Ref Sequence||ENSEMBL: ENSMUSP00000037850 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000037007]|
|Predicted Effect||probably damaging
AA Change: Q686L
PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
AA Change: Q686L
|Meta Mutation Damage Score||0.2573|
|Coding Region Coverage||
|Validation Efficiency||98% (59/60)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the plakin family of proteins that forms a component of desmosomes and the epidermal cornified envelope. This gene is located in the tylosis oesophageal cancer locus on chromosome 17q25, and its deletion is associated with both familial and sporadic forms of oesophageal squamous cell carcinoma. Patients suffering from the autoimmune mucocutaneous disorder, paraneoplastic pemphigus, develop antibodies against the encoded protein. [provided by RefSeq, Jul 2016]
PHENOTYPE: Mice homozygous for a targeted deletion of this gene are viable and fertile. Surprisingly, cornified envelope assembly is not inhibited and adult homozygotes show no obvious pathological phenotype in skin or other epithelia, despite a slight delay in barrier acquisition during embryonic development. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Evpl||
(F):5'- AGACACAATGAACGGTGCCTGC -3'
(R):5'- GAGTGTGTGACTGAGCTGATTGACC -3'
(F):5'- aaatcttcctgcctctgcc -3'
(R):5'- AGCTGATTGACCGTTGCTTC -3'