|Institutional Source||Beutler Lab|
|Gene Name||pumilio RNA-binding family member 3|
|Is this an essential gene?||Probably essential (E-score: 0.955)|
|Stock #||R4417 (G1)|
|Chromosomal Location||27388702-27429820 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to G at 27422716 bp|
|Amino Acid Change||Isoleucine to Threonine at position 183 (I183T)|
|Ref Sequence||ENSEMBL: ENSMUSP00000075573 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000076219]|
|Predicted Effect||probably damaging
AA Change: I183T
PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
AA Change: I183T
|Meta Mutation Damage Score||0.3807|
|Coding Region Coverage||
|Validation Efficiency||100% (53/53)|
|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'- CAAGCATGTCAGCACTCTGC -3'
(R):5'- AAGCAGTAGTCCACGCAGTC -3'
(F):5'- TCTCACTGCAGTGCCCAGAG -3'
(R):5'- GGATGGTGATAGTATCTTCCCATCTC -3'