|Institutional Source||Beutler Lab|
|Gene Name||protein phosphatase 1, regulatory (inhibitor) subunit 13 like|
|Synonyms||NFkB interacting protein 1, wa3, IASPP|
|Is this an essential gene?||Possibly essential (E-score: 0.667)|
|Stock #||R0507 (G1)|
|Chromosomal Location||19359749-19378533 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to C at 19375814 bp|
|Amino Acid Change||Leucine to Proline at position 720 (L720P)|
|Ref Sequence||ENSEMBL: ENSMUSP00000047839 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000047621]|
|Predicted Effect||possibly damaging
AA Change: L720P
PolyPhen 2 Score 0.629 (Sensitivity: 0.87; Specificity: 0.91)
AA Change: L720P
|Meta Mutation Damage Score||0.1785|
|Coding Region Coverage||
|Validation Efficiency||100% (72/72)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] IASPP is one of the most evolutionarily conserved inhibitors of p53 (TP53; MIM 191170), whereas ASPP1 (MIM 606455) and ASPP2 (MIM 602143) are activators of p53.[supplied by OMIM, Mar 2008]
PHENOTYPE: Homozygotes for spontaneous mutations in this gene exhibit cardiovascular defects leading to cardiomyopathy, open eyelids at birth, and coat abnormalities. One allele also shows postnatal lethality dependent on strain background and decreased weight, while another shows impaired fertility. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Ppp1r13l||
(F):5'- ACCTTGGCTCAGAAGTAGGATGGTG -3'
(R):5'- GCATAGCTACAAGTGTTCCAGCCTC -3'
(F):5'- AGAAGTAGGATGGTGCTGCTG -3'
(R):5'- AAGTGTTCCAGCCTCTAAGTAGC -3'