|Institutional Source||Beutler Lab|
|Is this an essential gene?||Non essential (E-score: 0.000)|
|Stock #||R1024 (G1)|
|Chromosomal Location||5086291-5132421 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||G to A at 5100000 bp|
|Amino Acid Change||Arginine to Tryptophan at position 543 (R543W)|
|Ref Sequence||ENSEMBL: ENSMUSP00000039360 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000035672]|
|Predicted Effect||probably damaging
AA Change: R543W
PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
AA Change: R543W
|Predicted Effect||noncoding transcript
|Meta Mutation Damage Score||0.6048|
|Coding Region Coverage||
|Validation Efficiency||90% (36/40)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a component of desmosomes and of the epidermal cornified envelope in keratinocytes. The N-terminal domain of this protein interacts with the plasma membrane and its C-terminus interacts with intermediate filaments. Through its rod domain, this protein forms complexes with envoplakin. This protein may serve as a link between the cornified envelope and desmosomes as well as intermediate filaments. AKT1/PKB, a protein kinase mediating a variety of cell growth and survival signaling processes, is reported to interact with this protein, suggesting a possible role for this protein as a localization signal in AKT1-mediated signaling. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous null mice are fertile and grossly normal with no apparent skin abnormalities. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Ppl||
(F):5'- GATCACATCTGGGATATGCCAGAGC -3'
(R):5'- TGGGTGACAAGTATCTGCTAGAGGG -3'
(F):5'- GCTCCAGGACAGGGCATC -3'
(R):5'- CAAGTATCTGCTAGAGGGCTGAG -3'