|Institutional Source||Beutler Lab|
|Gene Name||transformation related protein 63|
|Synonyms||TAp63, deltaNp63, p63, p73L, p51/p63, KET protein, Trp53rp1|
|Is this an essential gene?||Probably essential (E-score: 0.898)|
|Stock #||R5118 (G1)|
|Chromosomal Location||25683763-25892102 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to C at 25889010 bp|
|Amino Acid Change||Isoleucine to Threonine at position 552 (I552T)|
|Ref Sequence||ENSEMBL: ENSMUSP00000067005 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000040231] [ENSMUST00000065523] [ENSMUST00000115306] [ENSMUST00000115310]|
AA Change: I552T
AA Change: I552T
|Meta Mutation Damage Score||0.1277|
|Coding Region Coverage||
|Validation Efficiency||96% (52/54)|
FUNCTION: This gene encodes tumor protein p63, a member of the p53 family of transcription factors involved in cellular responses to stress and development. The family members include tumor proteins p53, p63, and p73, which have high sequence similarity to one another. This similarity allows p63 and p73 to transactivate p53-responsive genes causing cell cycle arrest and apoptosis. The family members can interact with each other in many ways, including direct and indirect protein interactions. This results in mutual regulation of target gene promoters. Tumor protein p63 -/- mice have several developmental defects which include the lack of limbs and other tissues, such as teeth and mammary glands, which develop as a result of interactions between mesenchyme and epithelium. Both alternative splicing and the use of alternative promoters result in multiple transcript variants encoding different protein isoforms.[provided by RefSeq, Dec 2009]
PHENOTYPE: Homozygotes for null mutations lack hair follicles, teeth, eyelids, and all squamous epithelia and derivatives including mammary, lacrymal, salivary, and prostate glands. Mutants have craniofacial anomalies, missing or truncated limbs, and small genitalia, and they die perinatally. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Trp63||
(F):5'- CGTCTGCACTATTTTACACATGG -3'
(R):5'- ATCATTCCACTCGTCACGGG -3'
(F):5'- TTACACATGGTAAACTGAGGCC -3'
(R):5'- CTCGTCACGGGGTGGAAAAG -3'