|Institutional Source||Beutler Lab|
|Gene Name||plastin 1 (I-isoform)|
|Is this an essential gene?||Probably non essential (E-score: 0.100)|
|Stock #||R7756 (G1)|
|Chromosomal Location||95752642-95845311 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to C at 95776844 bp|
|Amino Acid Change||Asparagine to Serine at position 197 (N197S)|
|Ref Sequence||ENSEMBL: ENSMUSP00000091317 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000093800]|
|Predicted Effect||probably benign
AA Change: N197S
PolyPhen 2 Score 0.438 (Sensitivity: 0.89; Specificity: 0.90)
AA Change: N197S
|Coding Region Coverage||
|Validation Efficiency||98% (48/49)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Plastins are a family of actin-binding proteins that are conserved throughout eukaryote evolution and expressed in most tissues of higher eukaryotes. In humans, two ubiquitous plastin isoforms (L and T) have been identified. The protein encoded by this gene is a third distinct plastin isoform, which is specifically expressed at high levels in the small intestine. Alternatively spliced transcript variants varying in the 5' UTR, but encoding the same protein, have been found for this gene. A pseudogene of this gene is found on chromosome 11.[provided by RefSeq, Feb 2010]
PHENOTYPE: Homozygous inactivation for this gene leads to altered intestinal morphology and physiology, increased brush border fragility and susceptibility to induced colitis, as well as a moderate and progressive form of hearing loss associated with defects in stereocilia morphology. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Pls1||
(F):5'- GAGGTAAGCTCTTCCTTCGTG -3'
(R):5'- TTGCCCTGTGTACATGACAG -3'
(F):5'- TCCTTCAGCTGCAATGGG -3'
(R):5'- CCCTGTGTACATGACAGTTGAAGC -3'