|Institutional Source||Beutler Lab|
|Gene Name||SCY1-like 1 (S. cerevisiae)|
|Synonyms||2810011O19Rik, mfd, mdf, Ntkl, p105|
|Is this an essential gene?||Probably essential (E-score: 0.932)|
|Stock #||R6625 (G1)|
|Chromosomal Location||5758427-5771401 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||C to A at 5760826 bp|
|Amino Acid Change||Valine to Phenylalanine at position 488 (V488F)|
|Ref Sequence||ENSEMBL: ENSMUSP00000025890 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000025890] [ENSMUST00000081496]|
|Predicted Effect||probably damaging
AA Change: V488F
PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
AA Change: V488F
|Predicted Effect||probably benign
|Meta Mutation Damage Score||0.6566|
|Coding Region Coverage||
|Validation Efficiency||91% (30/33)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a transcriptional regulator belonging to the SCY1-like family of kinase-like proteins. The protein has a divergent N-terminal kinase domain that is thought to be catalytically inactive, and can bind specific DNA sequences through its C-terminal domain. It activates transcription of the telomerase reverse transcriptase and DNA polymerase beta genes. The protein has been localized to the nucleus, and also to the cytoplasm and centrosomes during mitosis. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a spontaneous mutation or a knock-out allele develop a motoneuron disease characterized by gait ataxia, reduced grip strength, tremors, progressive hindlimb paralysis, muscular atrophy, and motoneuron degeneration. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Scyl1||
(F):5'- TTAAAGGCCTGTGGAGTAGC -3'
(R):5'- TTTTAGACCTTGGTTGGCCC -3'
(F):5'- CAGCACTTCCAGGGTGTG -3'
(R):5'- CCTGCCCTGGGAAGTGGAAAG -3'