|Institutional Source||Beutler Lab|
|Gene Name||mex3 RNA binding family member B|
|Is this an essential gene?||Possibly non essential (E-score: 0.366)|
|Stock #||R0218 (G1)|
|Chromosomal Location||82867333-82871515 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to T at 82869104 bp|
|Amino Acid Change||Glutamic Acid to Valine at position 209 (E209V)|
|Ref Sequence||ENSEMBL: ENSMUSP00000082168 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000082237]|
|Predicted Effect||probably damaging
AA Change: E209V
PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
AA Change: E209V
|Predicted Effect||noncoding transcript
|Meta Mutation Damage Score||0.5350|
|Coding Region Coverage||
|Validation Efficiency||98% (53/54)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes an RNA-binding phosphoprotein that is part of the MEX3 (muscle excess 3) family of translational regulators. The encoded protein contains N-terminal nuclear export and nuclear localization signals and is exported from the cytoplasm to the nucleus. The protein binds to RNA via two KH domains and also colocalizes with MEX3A, Dcp1A decapping factor and Argonaute proteins within P (processing) bodies. [provided by RefSeq, Oct 2012]
PHENOTYPE: Homozygous inactivation of this gene leads to partial neonatal lethality, decreased body weight and subfertility. Males show seminiferous tubule obstruction, oligozoospermia, abnormalities in Sertoli cell barrier morphology and function, and impaired Sertoli cell and macrophage phagocytosis. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Mex3b||
(F):5'- GATCCGAGCCTCTCGTAACAAGAAC -3'
(R):5'- TCCCACCACCGAAGTAAGAGTCTG -3'
(F):5'- GAACACGGCTCTCAACGG -3'
(R):5'- AAGCGAGCTGGAGCTGTC -3'