|Institutional Source||Beutler Lab|
|Gene Name||programmed cell death 6 interacting protein|
|Is this an essential gene?||Non essential (E-score: 0.000)|
|Stock #||R2698 (G1)|
|Chromosomal Location||113651744-113708259 bp(-) (GRCm38)|
|Type of Mutation||splice site|
|DNA Base Change (assembly)||A to T at 113674507 bp (GRCm38)|
|Amino Acid Change|
|Ref Sequence||ENSEMBL: ENSMUSP00000107492 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000035086] [ENSMUST00000111861]|
|Meta Mutation Damage Score||0.9755|
|Coding Region Coverage||
|Validation Efficiency||100% (63/63)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that functions within the ESCRT pathway in the abscission stage of cytokinesis, in intralumenal endosomal vesicle formation, and in enveloped virus budding. Studies using mouse cells have shown that overexpression of this protein can block apoptosis. In addition, the product of this gene binds to the product of the PDCD6 gene, a protein required for apoptosis, in a calcium-dependent manner. This gene product also binds to endophilins, proteins that regulate membrane shape during endocytosis. Overexpression of this gene product and endophilins results in cytoplasmic vacuolization, which may be partly responsible for the protection against cell death. Several alternatively spliced transcript variants encoding different isoforms have been found for this gene. Related pseudogenes have been identified on chromosome 15. [provided by RefSeq, Jan 2012]
PHENOTYPE: Mice homozygous for a knock-out allele show decreased body and brain size and exhibit structural defects in the epithelium of the choroid plexus and in the brain ependyma that culminate in excessive cell extrusion, enlargement of the lateral ventricles, and hydrocephalus. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Pdcd6ip||
(F):5'- GAGCACTCTTTTCAAGCATACCTC -3'
(R):5'- TGGGTGGATATAAGTGACTGCC -3'
(F):5'- CAAGCATACCTCCTCTAATATTTCTC -3'
(R):5'- AACAGGATTTCTTTGTTTTAGCTCTG -3'