|Institutional Source||Beutler Lab|
|Gene Name||lin-28 homolog A (C. elegans)|
|Synonyms||Lin-28, Tex17, Lin28a, Lin28|
|Is this an essential gene?||Essential (E-score: 1.000)|
|Stock #||R4998 (G1)|
|Chromosomal Location||134003330-134018841 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to C at 134018717 bp|
|Amino Acid Change||Phenylalanine to Valine at position 9 (F9V)|
|Ref Sequence||ENSEMBL: ENSMUSP00000050488 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000051674] [ENSMUST00000176897]|
|Predicted Effect||possibly damaging
AA Change: F9V
PolyPhen 2 Score 0.725 (Sensitivity: 0.86; Specificity: 0.92)
AA Change: F9V
|Predicted Effect||noncoding transcript
|Predicted Effect||probably benign
|Meta Mutation Damage Score||0.052|
|Coding Region Coverage||
|Validation Efficiency||97% (91/94)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a LIN-28 family RNA-binding protein that acts as a posttranscriptional regulator of genes involved in developmental timing and self-renewal in embryonic stem cells. The encoded protein functions through direct interaction with target mRNAs and by disrupting the maturation of certain miRNAs involved in embryonic development. This protein prevents the terminal processing of the LET7 family of microRNAs which are major regulators of cellular growth and differentiation. Aberrant expression of this gene is associated with cancer progression in multiple tissues. [provided by RefSeq, Sep 2015]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit decreased birth weight and postnatal lethality. In another report, mice homozygous for the same or an identical allele exhibit reduced premordial germ cells and fertility. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Lin28a||
(F):5'- TCTTCCCACAACAAGTTGCC -3'
(R):5'- GGAGCCTTTGAAAAGCCGTG -3'
(F):5'- TCGGTGTACAAGCCACTGGAAC -3'
(R):5'- GAAGATGTAGCAGCCTCT -3'