|Institutional Source||Beutler Lab|
|Gene Name||protein phosphatase 1, regulatory (inhibitor) subunit 13B|
|Is this an essential gene?||Probably essential (E-score: 0.791)|
|Stock #||R7304 (G1)|
|Chromosomal Location||111828457-111908110 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to C at 111872406 bp|
|Amino Acid Change||Asparagine to Aspartic acid at position 13 (N13D)|
|Ref Sequence||ENSEMBL: ENSMUSP00000062464 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000054815]|
|Predicted Effect||possibly damaging
AA Change: N13D
PolyPhen 2 Score 0.488 (Sensitivity: 0.88; Specificity: 0.90)
AA Change: N13D
|Coding Region Coverage||
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the ASPP (apoptosis-stimulating protein of p53) family of p53 interacting proteins. The protein contains four ankyrin repeats and an SH3 domain involved in protein-protein interactions. ASPP proteins are required for the induction of apoptosis by p53-family proteins. They promote DNA binding and transactivation of p53-family proteins on the promoters of proapoptotic genes. Expression of this gene is regulated by the E2F transcription factor. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous null mutants show lymphatic vascular phenotypes with subcutaneous edema detected only during embryogenesis, delayed lymphatic vessel formation, and mispatterned collecting lymphatic vessels. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Ppp1r13b||
(F):5'- CAATTGAGCACACTGAGCTG -3'
(R):5'- ACAGTTGTGTTTGCTAGCATAC -3'
(F):5'- GCACACTGAGCTGTATGTGATCAC -3'
(R):5'- GAGGACTCTAAATTGTGGTC -3'