|Institutional Source||Beutler Lab|
|Gene Name||pericentriolar material 1|
|Synonyms||9430077F19Rik, 2600002H09Rik, C030044G17Rik|
|Is this an essential gene?||Non essential (E-score: 0.000)|
|Stock #||R6227 (G1)|
|Chromosomal Location||41239752-41332344 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to A at 41330825 bp|
|Amino Acid Change||Methionine to Lysine at position 1986 (M1986K)|
|Ref Sequence||ENSEMBL: ENSMUSP00000039709 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000045218] [ENSMUST00000211247]|
|Predicted Effect||probably damaging
AA Change: M1986K
PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
AA Change: M1986K
|Predicted Effect||possibly damaging
AA Change: M2025K
PolyPhen 2 Score 0.933 (Sensitivity: 0.80; Specificity: 0.94)
|Coding Region Coverage||
|Validation Efficiency||97% (61/63)|
|MGI Phenotype||FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a component of centriolar satellites, which are electron dense granules scattered around centrosomes. Inhibition studies show that this protein is essential for the correct localization of several centrosomal proteins, and for anchoring microtubules to the centrosome. Chromosomal aberrations involving this gene are associated with papillary thyroid carcinomas and a variety of hematological malignancies, including atypical chronic myeloid leukemia and T-cell lymphoma. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2015]|
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Pcm1||
(F):5'- CTCATAGGAAGCAGAGTCTGGTAAC -3'
(R):5'- CTGAATTCATTGACAGAACATCTCC -3'
(F):5'- TGGTAACATAAGTCAAAAGTCGGATG -3'
(R):5'- GAACATCTCCTTTTTCAATAGTAGGC -3'