|Institutional Source||Beutler Lab|
|Gene Name||desmocollin 1|
|Is this an essential gene?||Probably non essential (E-score: 0.092)|
|Stock #||R7503 (G1)|
|Chromosomal Location||20084184-20114871 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||G to A at 20085865 bp|
|Amino Acid Change||Histidine to Tyrosine at position 827 (H827Y)|
|Ref Sequence||ENSEMBL: ENSMUSP00000042303 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000038710] [ENSMUST00000224432]|
|Predicted Effect||probably damaging
AA Change: H827Y
PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
AA Change: H827Y
|Predicted Effect||probably benign
|Meta Mutation Damage Score||0.1829|
|Coding Region Coverage||
|Validation Efficiency||100% (63/63)|
FUNCTION: This gene encodes a member of the cadherin family of proteins that mediates adhesion in desmosomes. The encoded preproprotein undergoes proteolytic processing to generate the mature, functional protein. Mice lacking the encoded protein exhibit epidermal fragility together with defects of epidermal barrier and differentiation. The neonatal mice lacking the encoded protein exhibit epidermal lesions and older mice develop chronic dermatitis. This gene is located in a cluster of desmosomal cadherin genes on chromosome 18. Alternate splicing of this gene results in multiple transcript variants encoding different isoforms that may undergo similar proteolytic processing. [provided by RefSeq, Jan 2016]
PHENOTYPE: Mutants with targeted disruptions of this gene have fragile epidermis, flaky skin, and defects in the epidermal barrier, leading to chronic dermatitis and display abnormal epidermal differentiation as indicated by hyperproliferation and overxpression of keratin 6 and 16. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Dsc1||
(F):5'- GCCTTCATAGTTATATGGGCGAAC -3'
(R):5'- CCACATATACCAAGCAGCTGTTG -3'
(F):5'- ATATGGGCGAACGTAGTCTTCAC -3'
(R):5'- CCAAGCAGCTGTTGAGATAAATTCC -3'