|List |< first << previous [record 45 of 51] next >> last >||
|Institutional Source||Beutler Lab|
|Gene Name||tousled-like kinase 1|
|Is this an essential gene?||Non essential (E-score: 0.000)|
|Stock #||R4191 (G1)|
|Chromosomal Location||70712407-70825728 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||G to A at 70725547 bp|
|Amino Acid Change||Arginine to Cysteine at position 423 (R423C)|
|Ref Sequence||ENSEMBL: ENSMUSP00000035961 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000038584]|
|Predicted Effect||probably damaging
AA Change: R423C
PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
AA Change: R423C
|Predicted Effect||noncoding transcript
|Meta Mutation Damage Score||0.3964|
|Coding Region Coverage||
|Validation Efficiency||95% (57/60)|
|MGI Phenotype||FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a serine/threonine kinase that may be involved in the regulation of chromatin assembly. The encoded protein is only active when it is phosphorylated, and this phosphorylation is cell cycle-dependent, with the maximal activity of this protein coming during S phase. The catalytic activity of this protein is diminished by DNA damage and by blockage of DNA replication. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2011]|
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Tlk1||
(F):5'- TAGCAGAGCGCACAGACATC -3'
(R):5'- TACAGAACAGTGTGGGCCTTC -3'
(F):5'- CACAGACATCCAAGTTGGTACTGTG -3'
(R):5'- TCCTGTACAGTGCTCAGACAG -3'