|Institutional Source||Beutler Lab|
|Gene Name||epiplakin 1|
|Is this an essential gene?||Possibly non essential (E-score: 0.304)|
|Stock #||PIT4494001 (G1)|
|Chromosomal Location||76101481-76120195 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to A at 76106072 bp|
|Amino Acid Change||Glutamine to Leucine at position 2203 (Q2203L)|
|Ref Sequence||ENSEMBL: ENSMUSP00000154609 (fasta)|
|Predicted Effect||probably benign
AA Change: Q2203L
PolyPhen 2 Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)
|Coding Region Coverage||
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene belongs to the plakin family of proteins, which play a role in the organization of cytoskeletal architecture. This family member is composed of several highly homologous plakin repeats. It may function to maintain the integrity of keratin intermediate filament networks in epithelial cells. Studies of the orthologous mouse protein suggest that it accelerates keratinocyte migration during wound healing. [provided by RefSeq, Oct 2013]
PHENOTYPE: Mice homozygous for a null allele exhbit normal skin morphology. Mice homozygous for a reporter knock-in allele exhibit enhanced wound healing associated with increased keratinocyte migration. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Eppk1||
(F):5'- ACTGGGTCGATGATGAAGCC -3'
(R):5'- TGCTGAACTCAGAGTATGTGTC -3'
(F):5'- TCGATGATGAAGCCTGTGG -3'
(R):5'- TCAGAGTATGTGTCTGAAGAGAAG -3'