|Institutional Source||Beutler Lab|
|Gene Name||coiled coil domain containing 88A|
|Synonyms||Girdin, GIV, A430106J12Rik, D130005J21Rik, HkRP1, C130096N06Rik, C330012F17Rik|
|Is this an essential gene?||Essential (E-score: 1.000)|
|Stock #||R5373 (G1)|
|Chromosomal Location||29373658-29510808 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||C to T at 29463409 bp|
|Amino Acid Change||Threonine to Methionine at position 649 (T649M)|
|Ref Sequence||ENSEMBL: ENSMUSP00000048978 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000040182] [ENSMUST00000155854]|
|Predicted Effect||possibly damaging
AA Change: T649M
PolyPhen 2 Score 0.916 (Sensitivity: 0.81; Specificity: 0.94)
AA Change: T649M
|Predicted Effect||noncoding transcript
|Predicted Effect||probably benign
|Meta Mutation Damage Score||0.1795|
|Coding Region Coverage||
|Validation Efficiency||96% (74/77)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the Girdin family of coiled-coil domain containing proteins. The encoded protein is an actin-binding protein that is activated by the serine/threonine kinase Akt and plays a role in cytoskeleton remodeling and cell migration. The encoded protein also enhances Akt signaling by mediating phosphoinositide 3-kinase (PI3K)-dependent activation of Akt by growth factor receptor tyrosine kinases and G protein-coupled receptors. Increased expression of this gene and phosphorylation of the encoded protein may play a role in cancer metastasis. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Dec 2011]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit postnatal weight loss, reduced angiogenesis, and premature death by P25. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Ccdc88a||
(F):5'- GCTCCCAGATTAGTGCTGAG -3'
(R):5'- CACGCTCCTTCGCAGTTCTAAG -3'
(F):5'- CCCAGATTAGTGCTGAGGCGAG -3'
(R):5'- GCAGTTCTAAGTTTTCTTCATCGAG -3'