Busch Lab

ZMP

POT1

Ensembl ID:
ENSDARG00000079915
Description:
protection of telomeres 1 homolog (S. pombe) [Source:HGNC Symbol;Acc:17284]
Human Orthologue:
POT1
Human Description:
protection of telomeres 1 homolog (S. pombe) [Source:HGNC Symbol;Acc:17284]
Mouse Orthologues:
Pot1a, Pot1b
Mouse Descriptions:
protection of telomeres 1A Gene [Source:MGI Symbol;Acc:MGI:2141503]
protection of telomeres 1B Gene [Source:MGI Symbol;Acc:MGI:1920086]

Alleles

There are 3 alleles of this gene:

Allele Name Consequence Status Availability
sa32537 Essential Splice Site Available for shipment Available now
sa8610 Nonsense Mutation detected in F1 DNA Not yet available
sa39485 Essential Splice Site Mutation detected in F1 DNA Not yet available

Mutation Details

Allele Name:
sa32537
Status:
Available for shipment
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
Order Allele From ZIRC
Mutation:
T > C
Consequence:
Essential Splice Site
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000115139 Essential Splice Site 67 773 2 20
Genomic Location (Zv9):
Chromosome 25 (position 28290976)
Other Location(s):
Assembly Chromosome Position
GRCz10 25 26981070
GRCz11 25 27424272
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
TCCTGTGCACAGAGAGATGGCTTGGAAATGCTTAGAGCTGAGATCAGAGG[T/C]GAGTTTCCCCATTTGAATGTAAATTCAAAGACAAAGATCATGAACAACCC
Long Flanking Sequence:
GAGCCACTTATTTTGAAGGTTTCAGTTTTGCACAGAGGTAATGATAGTCTTGTCTGCCACTATTCTAACACATAGGCCCTAGTGGTCCACCTTCTATTAAAAAGAGGAATCTCATTTCAATTCAAAGCTACAGTCAACAACATGGCACAATTAACATCAAAACCTAAAAAGAGCAAAGAGAAACACATTTTGTGGGGTATTTTGAGCTGAAAATTCACATACACACTCTAGGGACATCAGATACTTATTTTACATCTTCAAAAAGAAAGGCATGATAGATGCTCTTTAACAAAAAATAAACAAATTAATAAAAAAATTACTTTAAAGCTATTTGTTGAGCATGTAGGAACATAGCCCTTTGTTACTACAGGTTTTCAGTTATAGGTGTAAGTGCTTATATGAGTCATTGCCTCTGCATAGGCTAGAGTGCTTCGCAAAGGTCCTGTGATATCCTGTGCACAGAGAGATGGCTTGGAAATGCTTAGAGCTGAGATCAGAGG[T/C]GAGTTTCCCCATTTGAATGTAAATTCAAAGACAAAGATCATGAACAACCCTGCATCTTATCAAGCTGATCTTTTTTTGTCAATAGTGACACGCAATCTGTTTGCCACTCACACCTCTCATCCTGTTTAAAGGATCTGTGGTGCTTTGGGCTTTAGCAAATTTGTGTTGAAAAATCTGTCATCATGACTGCATGGCTTTGCTCCATTAAGATTTTAAGTAACTGTTTTAATGTATCTGGAGAAAAGAAGCTCAATATGGGGCCAATTTGATAGATTGAAGTGGCTTCTTCAAAGCATGCTTTAGACTTACTCATTTTGATTAATTTTAGCGCTCAGCCCTGCAGATTTTGAGTCTTAAAATGAAAGCTGAATTACACCCAGACTCACTCTGTCCTTGCTGTTTGCTTTCTGTCTTTCTCAGAGGAGGACCCCCTTCAGAGTACCACTGAACATACATCAATCAACGTCATTTTCTTTGACACACTGGCCAAGGACTTTTCC
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa8610
Status:
Mutation detected in F1 DNA
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
Not yet available
Mutation:
C > T
Consequence:
Nonsense
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000115139 Nonsense 561 773 15 20
Genomic Location (Zv9):
Chromosome 25 (position 28355214)
Other Location(s):
Assembly Chromosome Position
GRCz10 25 27045308
GRCz11 25 27488510
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
TCGCAAACATATTTCTGGAATCTGCGAGAGATAACCAACCTTGTGATGAG[C/T]AGTGGGCTGCCACCTCATCWGCAAATTCTAGAGAACCTGGCAGAACYATC
Long Flanking Sequence:
TACAGAACAATCATTAAACAATAACTTGCCTAATTAACCTAACCTGCCTAGTTAACTTAATTAACCTAGTTAAGGCTTTAAATGTCACTTTAAGCTGTATAGAAGTGTCTTGAAAAAGATCTAGTAAAATATTATTTGCCGTCATCATGGCAAGGATAAAATAAATCAGTTATTAGAAATGAGCTATTAAAACTATCATGTTTAGAAATGTGTTGAATAAATATTTTTTCTTTGAATTAATCAGAAATTTGGGAAAAAAATAAACAGGGGGGCTAATAATTAAGTGGGGCTAATAATTATATATATATATATAGATATAATCATACTGTATATTACAAATATAATCATATATTACAGCTTTGTAATAGCTAATGATACTAACAAAACTTTCTAACAAAAAGTTCTACTATTTTGTATGTGACAGGAAAGACGTACCTGATGACAGTGCTGTCGCAAACATATTTCTGGAATCTGCGAGAGATAACCAACCTTGTGATGAG[C/T]AGTGGGCTGCCACCTCATCTGCAAATTCTAGAGAACCTGGCAGAACTATCTCAATGCACGTTTCTAAAGACATGGTGGGGAAAAGCAGTCACATGCAGCTGATATTCATTGAGGGTATGTCGAACTGCAAAGAGACTCATATTTTCAATAATATTTCTTTGGCCTTATTTTAAAAATATAGCCTTATGTTTTCAGGAATGACACTTGATGAGATTAGTGTGTTATCACGTGATCACAAAAACCTAGTTCCTGTTAGATCAGAGAACAGCAAGATGACCCGGATGGATCTCACTGCTCCATTCTTGTTCTCTGGAAAAAAAAGATATTATGGGTAAGAGTACAATTCCTATGGCTTCATCTGAATGTCCCCTGCTATTCATGATGTAAATCATACAAAAACCCTAGGGAAGGGTTACATTCACGTCTATATTTAGTTAAATGAATATTTATGTGCATGTCTCAGGTGTAAACAGTGCTCTCGGAACACGTTTGAAAACCCC
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa39485
Status:
Mutation detected in F1 DNA
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
Not yet available
Mutation:
T > C
Consequence:
Essential Splice Site
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000115139 Essential Splice Site 739 773 19 20
Genomic Location (Zv9):
Chromosome 25 (position 28358237)
Other Location(s):
Assembly Chromosome Position
GRCz10 25 27048331
GRCz11 25 27491533
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
AGGATTCAGACAATCATGGACACAATTCAACCACCAGAAAGTAGTCTGGG[T/C]AAAGATGTCATTTACTATGTAACCGTTCAAATGTTCAAATTCGTTCTTTA
Long Flanking Sequence:
CTGTGGGAAGACGCTGTGAGTATAAATGTTATATCAATGTCATTAATTAAAGATCTGGAATAAATATGAGATGTTCGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTATATATATATATATATATATATATATATATATATATATAATTTTTTTTTTCATTACAGCATAGGATTTGTTTTCAGTATGTAAATAAACCACTGCAAATGTTTTAAATATTATTGCTAAAATTGCTATTTTAAGTTGTTTATTTTTTTTTTTTTTTGCTTGTTTAATAATGTAGTATTTAGTTTTTTTAAGATCTCTAGTCTTTATTTTATATTTTTGAGTCTCTGAAGAGATTAAAATGCTGTCTGATCTAGGCTTTGGTGATCACCTGTCTTTTTCTTTTCAGGAGAGATTCTTCCATATTTCTGCTGTAGATGCTTCAGGTTGTCAAGATTTGCAGGACAGGATTCAGACAATCATGGACACAATTCAACCACCAGAAAGTAGTCTGGG[T/C]AAAGATGTCATTTACTATGTAACCGTTCAAATGTTCAAATTCGTTCTTTAATTAGAGTACGATAATGTATACTTTTTTTTTTTTTTTTTTACTGTCTGTAGAAGAACGTCCATGGATGGATTTTTGCCTCTCTGTCTACACTGTGAAGGACAACGACAGAAATAAAGTTTGTTACCAGATCACAAACACAGAAATTGTTAAACAATAGAGAAGTTATGGATGATTTAATTCAATGAACCTAGAACCTACATTGAACAAGAAAATGGAGCTGTTATTTTTTGTTTTTTTTTTTTTGCTTGGAAAGTTTGTGTTAAGAAATGTATGTACATGTTTTGTGGTAAAACAATCTATAGCTGTTTGTAAAATAAAGTAGTTTTTTTATTTGTTTGTTGCACATTATTCCTACTCAGATTATATATTTTTAAAGTTCTATAAAGACAATATAATTCGAATATTATTGATCTTCCTTAATCCATGTGTGGAATTTTTTGTTCTTTATA
Associated Phenotype:
Not determined