|Institutional Source||Beutler Lab|
|Gene Name||pumilio RNA-binding family member 3|
|Is this an essential gene?||Probably essential (E-score: 0.961)|
|Stock #||R4576 (G1)|
|Chromosomal Location||27388702-27429820 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||G to A at 27415908 bp|
|Amino Acid Change||Threonine to Methionine at position 389 (T389M)|
|Ref Sequence||ENSEMBL: ENSMUSP00000075573 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000076219]|
|Predicted Effect||probably benign
AA Change: T389M
PolyPhen 2 Score 0.320 (Sensitivity: 0.90; Specificity: 0.89)
AA Change: T389M
|Meta Mutation Damage Score||0.0898|
|Coding Region Coverage||
|Validation Efficiency||98% (84/86)|
|MGI Phenotype||FUNCTION: This gene encodes a member of the evolutionarily conserved Pumilio and Fem-3 mRNA-binding factor family of proteins, which are characterized by tandem 36 amino acid pumilio homolog domains and which function in diverse biological processes. This protein belongs to a group of atypical Pumilio and Fem-3 mRNA-binding factor proteins, whose members are distinguished from other Pumilio and Fem-3 mRNA-binding factor proteins by a novel protein fold with 11 pumilio homolog domains and an ability to bind to DNA and single- and double-stranded RNA without sequence specificity. In mouse, lower levels of gene expression have been correlated with increased testicular germ cell tumors. A pseudogene of this gene is found on chromosome X. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2015]|
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Pum3||
(F):5'- ACACATGAAGCCCTTTGATCTC -3'
(R):5'- GCACTGGGTCTCATTCTACC -3'
(F):5'- TGAAGCCCTTTGATCTCTAACAAAAC -3'
(R):5'- ACTGGGTCTCATTCTACCTTATAACG -3'