|Institutional Source||Beutler Lab|
|Synonyms||MPF, megakaryocyte potentiating factor|
|Is this an essential gene?||Probably non essential (E-score: 0.102)|
|Stock #||R1651 (G1)|
|Chromosomal Location||25748614-25754327 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to C at 25753408 bp|
|Amino Acid Change||Histidine to Arginine at position 50 (H50R)|
|Ref Sequence||ENSEMBL: ENSMUSP00000075279 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000075884]|
|Predicted Effect||probably benign
AA Change: H50R
PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
AA Change: H50R
|Meta Mutation Damage Score||0.1252|
|Coding Region Coverage||
|Validation Efficiency||97% (66/68)|
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'- ACACAGTCCTTCCCCTAACTCTGAG -3'
(R):5'- CTACAAAGACAAGCCAGGTGAGGTC -3'
(F):5'- CTAACTCTGAGCCAGCCAG -3'
(R):5'- AGTGTCACTTTTCAAAGAGGGC -3'