|Institutional Source||Beutler Lab|
|Is this an essential gene?||Non essential (E-score: 0.000)|
|Stock #||R7349 (G1)|
|Chromosomal Location||5086291-5132421 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to A at 5104729 bp|
|Amino Acid Change||Histidine to Leucine at position 272 (H272L)|
|Ref Sequence||ENSEMBL: ENSMUSP00000039360 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000035672]|
|Predicted Effect||probably damaging
AA Change: H272L
PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
AA Change: H272L
|Coding Region Coverage||
|Validation Efficiency||100% (70/70)|
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'- AGCAGGTTCAGGTACTCCTTC -3'
(R):5'- TGCAGTATGACTGGAGCGAC -3'
(F):5'- ATGCACAGCCTCCATGTGTG -3'
(R):5'- TATGACTGGAGCGACCGCAAC -3'