|Institutional Source||Beutler Lab|
|Gene Name||pleiomorphic adenoma gene 1|
|Is this an essential gene?||Probably essential (E-score: 0.791)|
|Stock #||R6296 (G1)|
|Chromosomal Location||3900996-3938423 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||G to T at 3904499 bp (GRCm38)|
|Amino Acid Change||Histidine to Asparagine at position 231 (H231N)|
|Ref Sequence||ENSEMBL: ENSMUSP00000003369 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000003369] [ENSMUST00000137439] [ENSMUST00000151543]|
AA Change: H231N
PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
AA Change: H231N
|Coding Region Coverage||
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Pleomorphic adenoma gene 1 encodes a zinc finger protein with 2 putative nuclear localization signals. PLAG1, which is developmentally regulated, has been shown to be consistently rearranged in pleomorphic adenomas of the salivary glands. PLAG1 is activated by the reciprocal chromosomal translocations involving 8q12 in a subset of salivary gland pleomorphic adenomas. Three transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous null mice display reduced male fertility, small seminal vesicles and ventral prostate, reduced litter size (females only), reduced embryonic and postnatal growth, and delayed eyelid opening. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Plag1||
(F):5'- CTCTGCATGGACTGAAATGGAG -3'
(R):5'- AGCACCTGAAATCTCACGCG -3'
(F):5'- TAGAGGTTTAACTGCAAAGTGTTTG -3'
(R):5'- GAAATCTCACGCGGGCAAGTC -3'