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|Institutional Source||Beutler Lab|
|Gene Name||desmoglein 4|
|Is this an essential gene?||Possibly essential (E-score: 0.684)|
|Stock #||R2198 (G1)|
|Chromosomal Location||20436175-20471821 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to C at 20461442 bp|
|Amino Acid Change||Serine to Proline at position 543 (S543P)|
|Ref Sequence||ENSEMBL: ENSMUSP00000019426 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000019426]|
|Predicted Effect||probably benign
AA Change: S543P
PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
AA Change: S543P
|Meta Mutation Damage Score||0.1159|
|Coding Region Coverage||
|Validation Efficiency||98% (60/61)|
FUNCTION: This gene encodes a member of the cadherin family of proteins that forms an integral transmembrane component of desmosomes, the multiprotein complexes involved in cell adhesion, organization of the cytoskeleton, cell sorting and cell signaling. This gene is expressed in the suprabasal epidermis and hair follicle. The encoded preproprotein undergoes proteolytic processing to generate a mature, functional protein. Certain mutations in this gene are responsible for the lanceolate hair phenotype in mice. This gene is located in a cluster of desmosomal cadherin genes on chromosome 18. [provided by RefSeq, Feb 2016]
PHENOTYPE: Mice carrying mutations at this locus exhibit abnormalities in hair growth, vibrissae growth, and a thickened epidermis. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Dsg4||
(F):5'- TGCATTGAGATTCCTGATGCC -3'
(R):5'- AGCAACTAGGATGGTTTTGAACTCAC -3'
(F):5'- GAGATTCCTGATGCCAACGATTACTG -3'
(R):5'- TTGAACTCACAGATATCTACCTGC -3'