|Institutional Source||Beutler Lab|
|Synonyms||5730453H04Rik, DP, 2300002E22Rik|
|Is this an essential gene?||Essential (E-score: 1.000)|
|Stock #||R2495 (G1)|
|Chromosomal Location||38151294-38198577 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to A at 38193477 bp|
|Amino Acid Change||Leucine to Glutamine at position 1746 (L1746Q)|
|Ref Sequence||ENSEMBL: ENSMUSP00000115062 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000124830] [ENSMUST00000127906]|
|Predicted Effect||possibly damaging
AA Change: L1746Q
PolyPhen 2 Score 0.909 (Sensitivity: 0.81; Specificity: 0.94)
AA Change: L1746Q
|Predicted Effect||probably benign
|Meta Mutation Damage Score||0.0752|
|Coding Region Coverage||
|Validation Efficiency||98% (63/64)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that anchors intermediate filaments to desmosomal plaques and forms an obligate component of functional desmosomes. Mutations in this gene are the cause of several cardiomyopathies and keratodermas, including skin fragility-woolly hair syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2016]
PHENOTYPE: Homozygous targeted null mutants die by embryonic day E6.5 due to instability of desmosomes and tissue integrity; rescue by aggregation with wild-type tetraploid morulae increase embyronic survival with noted major defects in heart muscle, neuroepithelium and epidermis; conditional knockouts that are epidermal-specific have compositionally altered epidermal desmosomes. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Dsp||
(F):5'- GCAGGCTCACTTGAGGAATG -3'
(R):5'- AGATCTGGGGTCAGTTACGG -3'
(F):5'- GCTCACTTGAGGAATGAGCATTTCC -3'
(R):5'- TGTGAATACCTCTAAAGCCTGC -3'