|Institutional Source||Beutler Lab|
|Gene Name||ribosomal protein L14|
|Synonyms||3100001N19Rik, CTG-B33, CAG-ISL-7, L14|
|Is this an essential gene?||Probably essential (E-score: 0.922)|
|Stock #||R7311 (G1)|
|Chromosomal Location||120571444-120574654 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to C at 120574105 bp|
|Amino Acid Change||Isoleucine to Threonine at position 122 (I122T)|
|Ref Sequence||ENSEMBL: ENSMUSP00000131489 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000165532]|
|Predicted Effect||probably damaging
AA Change: I122T
PolyPhen 2 Score 0.958 (Sensitivity: 0.78; Specificity: 0.95)
AA Change: I122T
|Predicted Effect||probably benign
|Coding Region Coverage||
|MGI Phenotype||FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 60S subunit. The protein belongs to the L14E family of ribosomal proteins. It contains a basic region-leucine zipper (bZIP)-like domain. The protein is located in the cytoplasm. This gene contains a trinucleotide (GCT) repeat tract whose length is highly polymorphic; these triplet repeats result in a stretch of alanine residues in the encoded protein. Transcript variants utilizing alternative polyA signals and alternative 5'-terminal exons exist but all encode the same protein. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. [provided by RefSeq, Jul 2008]|
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Rpl14||
(F):5'- TTGATAGGTTAGGGCCAGCAAG -3'
(R):5'- TGACCCTTCTGACCTTTAGCAG -3'
(F):5'- GATTGCTCAGGGTAAAAGTAGCTG -3'
(R):5'- CTTCTGAGCAGGAGCCTTCTG -3'