|Institutional Source||Beutler Lab|
|Synonyms||MPF, megakaryocyte potentiating factor|
|Is this an essential gene?||Probably non essential (E-score: 0.106)|
|Stock #||R0349 (G1)|
|Chromosomal Location||25748614-25754327 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||G to T at 25750276 bp|
|Amino Acid Change||Glutamine to Lysine at position 407 (Q407K)|
|Ref Sequence||ENSEMBL: ENSMUSP00000075279 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000047098] [ENSMUST00000075884]|
|Predicted Effect||probably benign
|Predicted Effect||possibly damaging
AA Change: Q407K
PolyPhen 2 Score 0.687 (Sensitivity: 0.86; Specificity: 0.92)
AA Change: Q407K
|Predicted Effect||noncoding transcript
|Coding Region Coverage||
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a preproprotein that is proteolytically processed to generate two protein products, megakaryocyte potentiating factor and mesothelin. Megakaryocyte potentiating factor functions as a cytokine that can stimulate colony formation of bone marrow megakaryocytes. Mesothelin is a glycosylphosphatidylinositol-anchored cell-surface protein that may function as a cell adhesion protein. This protein is overexpressed in epithelial mesotheliomas, ovarian cancers and in specific squamous cell carcinomas. Alternative splicing results in multiple transcript variants, at least one of which encodes an isoform that is proteolytically processed. [provided by RefSeq, Feb 2016]
PHENOTYPE: Mice homozygous for disruptions in this allele display a normal phenotype. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Msln||
(F):5'- GGGCTTTTACCATATCCTCGTCCAG -3'
(R):5'- TCCCTTCACCTATGAGCAGCTCAG -3'
(F):5'- AAGAAGCCACTAAGGCACCT -3'
(R):5'- atctgcctgcctctgcc -3'