|Institutional Source||Beutler Lab|
|Gene Name||telomerase reverse transcriptase|
|Is this an essential gene?||Possibly non essential (E-score: 0.366)|
|Stock #||R1023 (G1)|
|Chromosomal Location||73626911-73649843 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to G at 73642059 bp (GRCm38)|
|Amino Acid Change||Asparagine to Serine at position 844 (N844S)|
|Ref Sequence||ENSEMBL: ENSMUSP00000022104 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000022104] [ENSMUST00000221522] [ENSMUST00000223303]|
AA Change: N844S
PolyPhen 2 Score 0.410 (Sensitivity: 0.89; Specificity: 0.90)
AA Change: N844S
|Meta Mutation Damage Score||0.1666|
|Coding Region Coverage||
|Validation Efficiency||100% (42/42)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Telomerase is a ribonucleoprotein polymerase that maintains telomere ends by addition of the telomere repeat TTAGGG. The enzyme consists of a protein component with reverse transcriptase activity, encoded by this gene, and an RNA component which serves as a template for the telomere repeat. Telomerase expression plays a role in cellular senescence, as it is normally repressed in postnatal somatic cells resulting in progressive shortening of telomeres. Deregulation of telomerase expression in somatic cells may be involved in oncogenesis. Studies in mouse suggest that telomerase also participates in chromosomal repair, since de novo synthesis of telomere repeats may occur at double-stranded breaks. Alternatively spliced variants encoding different isoforms of telomerase reverse transcriptase have been identified; the full-length sequence of some variants has not been determined. Alternative splicing at this locus is thought to be one mechanism of regulation of telomerase activity. [provided by RefSeq, Jul 2008]
PHENOTYPE: In spite of impaired telomerase function, homozygous mutant mice are overtly normal in early generations. Impaired fertility has been reported in later generations for homozygotes of at least one knockout allele. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Tert||
(F):5'- GCTGTCACCAAGAATGTCCCTTCAC -3'
(R):5'- AAGAATGGCTCTGGGATGCTTCAC -3'
(F):5'- AGCTGCTATGAATTGTCCCAG -3'
(R):5'- GGGATGCTTCACAGCTTTTC -3'