|Institutional Source||Beutler Lab|
|Is this an essential gene?||Non essential (E-score: 0.000)|
|Stock #||R6062 (G1)|
|Chromosomal Location||103513342-103612797 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||C to A at 103585136 bp (GRCm38)|
|Amino Acid Change||Asparagine to Lysine at position 395 (N395K)|
|Ref Sequence||ENSEMBL: ENSMUSP00000093233 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000095576] [ENSMUST00000227322]|
AA Change: N395K
PolyPhen 2 Score 0.816 (Sensitivity: 0.84; Specificity: 0.93)
AA Change: N395K
AA Change: N375K
PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|Meta Mutation Damage Score||0.0721|
|Coding Region Coverage||
|Validation Efficiency||98% (56/57)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a precursor to the cornified envelope of terminally differentiated keratinocytes. This protein localizes to the periphery of cells and may function in the assembly or regulation of proteins in the cornified envelope. Transcript variants encoding different isoforms exist. A transcript variant utilizing an alternative polyA signal has been described in the literature, but its full-length nature has not been determined. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous null mice are viable and fertile with normal hair morphology and development and normal skin morphology and barrier function. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Scel||
(F):5'- AAGAGGATTCAAGTCATGCTGG -3'
(R):5'- TCGTGTATGATTATGGTGTCACAAG -3'
(F):5'- CAAGTCATGCTGGAGTTTTGAATTAC -3'
(R):5'- GGTGTCACAAGAAATTTCTCAAGTAG -3'