|Institutional Source||Beutler Lab|
|Gene Name||protection of telomeres 1A|
|Is this an essential gene?||Essential (E-score: 1.000)|
|Stock #||R0840 (G1)|
|Chromosomal Location||25743737-25809246 bp(-) (GRCm38)|
|Type of Mutation||splice site|
|DNA Base Change (assembly)||T to C at 25748284 bp (GRCm38)|
|Amino Acid Change|
|Ref Sequence||ENSEMBL: ENSMUSP00000131928 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000115330] [ENSMUST00000166445]|
|Coding Region Coverage||
|Validation Efficiency||100% (51/51)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a member of the telombin family and encodes a nuclear protein involved in telomere maintenance. Specifically, this protein functions as a member of a multi-protein complex that binds to the TTAGGG repeats of telomeres, regulating telomere length and protecting chromosome ends from illegitimate recombination, catastrophic chromosome instability, and abnormal chromosome segregation. Increased transcriptional expression of this gene is associated with stomach carcinogenesis and its progression. Alternatively spliced transcript variants have been described. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous inactivation of this gene leads to complete prenatal lethality. Embryos homozygous for a gene trapped allele fail to form an inner cell mass in culture. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Pot1a||
(F):5'- ACAGGGAGAATGTCGCCTCAAAC -3'
(R):5'- TCAGCTTATAAAACGTCCCGTTGCC -3'
(F):5'- aaatCAAAGGCAAAGACATAATATCG -3'
(R):5'- CCGTTGCCAGACGTAATGTG -3'