Busch Lab

ZMP

psen1

Ensembl ID:
ENSDARG00000004870
ZFIN ID:
ZDB-GENE-991119-4
Description:
Presenilin-1 [Source:UniProtKB/Swiss-Prot;Acc:Q9W6T7]
Human Orthologue:
PSEN1
Human Description:
presenilin 1 [Source:HGNC Symbol;Acc:9508]
Mouse Orthologue:
Psen1
Mouse Description:
presenilin 1 Gene [Source:MGI Symbol;Acc:MGI:1202717]

Alleles

There are 3 alleles of this gene:

Allele Name Consequence Status Availability
sa30700 Essential Splice Site Mutation detected in F1 DNA Not yet available
sa43013 Essential Splice Site Mutation detected in F1 DNA Not yet available
hu2548 Nonsense Available for shipment Available now

Mutation Details

Allele Name:
sa30700
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 > A
Consequence:
Essential Splice Site
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000033514 Essential Splice Site 12 456 2 11
Genomic Location (Zv9):
Chromosome 17 (position 51747276)
Other Location(s):
Assembly Chromosome Position
GRCz10 17 51133386
GRCz11 17 51222421
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
CATCACAGTTCCGATGGCTGATTTAGTGCAGAATGCTGCCAATAATGTGG[T/A]AAGTTTGCTTATTCCGACCAGGGTTATTGTAGTTCACGAAACCATAAACG
Long Flanking Sequence:
CGAATGTGCGAATATAAAATCAACTTTACCTCTATATTGTTTACCATGTTACCTTGAATATTAGATCAGAGTTAGCATGCAAGTATGACTTCTAAACAACATTAACACTAATTCACTGTGAACAATGCTGTGCTTTGGTAGTCATTTGCTGCTAATATGATTTCTCTATTTACAATTTGCTAACAATACTTTTCTAAATTTATAATATTAAGGAGGATGTCTGAATATCCCAATATAAAACCAACTTCACCTCTATGACTAAGACTGGGATATAACATAATCTTCAAATGGTTTACTGTAAAAATGTACATTAGCCTAATCTCGACCTAGCCAGAGATAACAAGTTTATTACTTATGGGAAGGGACATTGTTTTGTTGTTACTGATGATTATTTGTGGTCTCAATCCTGACAGATCTAGAGTTCCCGCTGTTTCTATGATCCCGGGGTCACATCACAGTTCCGATGGCTGATTTAGTGCAGAATGCTGCCAATAATGTGG[T/A]AAGTTTGCTTATTCCGACCAGGGTTATTGTAGTTCACGAAACCATAAACGTGTAATTGTTGCTTGGAAGGGAACAAACATTACCTGGAATAGTTTCCGGCCATAAAATGTGTTTGTGTACCTGTTTTTGTGACATATCAGGACACAAATCTGTATAATGACATGGGTATAACACAGGTATTACAAAAAGGAGGTGAAATATTAGGACATTGGTGTCATCCTCATTTCTCAAAAAGCTTATAAATTCCACTGGATGAGTTTAATCAGAGTAAAGCTGCACACAGTCTCCTGTGATGGTTGGGTTTAGGGGTGAGGGCAATACAATATACGGTTTGGATAGTATAAAATGAATGGAAACCTATGTAATGCCCCCACTTTTCACAAAAACAAGCGTGTGTGTGTGTGTGTAATGAACATATTCCACAGTTTAGACTTTCGATTTTAAGACATTTGAGTTGTGTTTGGGGGAAATCGTTACCTGAGAATTTCACAATTACAATA
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa43013
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
ENSDART00000033514 Essential Splice Site 279 456 7 11
Genomic Location (Zv9):
Chromosome 17 (position 51738734)
Other Location(s):
Assembly Chromosome Position
GRCz10 17 51124844
GRCz11 17 51213879
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
ACAGCTCAAGAGAGGAATGAGGCCATTTTCCCAGCGCTCATCTACTCCTG[T/C]AAGAAAAACCCCTCAGCACTTCCATCTTCTCAGACTGTGAATGTCCATCT
Long Flanking Sequence:
CTTAACGATGTTTCTGTTCCCTCCAGGGAAGTGTTCAAGACGTATAACGTGGCGATGGATTACTTCACGCTGGCGTTGATCATCTGGAACTTCGGTGTGGTGGGAATGATCTGCATCCACTGGAAGGGGCCGCTGCGGCTCCAGCAGGCCTATCTGATCATGATCAGCGCTCTCATGGCTCTGGTCTTCATCAAGTATCTCCCCGAGTGGACCGCATGGCTCATCCTCGCTGCTATTTCAGTCTACGGTCAGTCAGTCTGCAAACAGAGCAACACATTCACTTCTGTGTACTGATAGGTTTATTGTTCTGTAATGCTGCTTTGGAACAATAATTAGCCTGAAATGAATTGAATAATTTCAAAAACACAGCCCCTTAAATGTCTTTCCTGCTCCTGTGTAGATCTTCTGGCAGTGTTGTGTCCGAAAGGCCCTCTGCGAATCCTTGTGGAAACAGCTCAAGAGAGGAATGAGGCCATTTTCCCAGCGCTCATCTACTCCTG[T/C]AAGAAAAACCCCTCAGCACTTCCATCTTCTCAGACTGTGAATGTCCATCTGTTTAATTGTGTTATCGTCACGTTTCTATGAAATTTCTCCTTCGATTTGTCAGCTACGATGGTGTGGCTCTTCAATATGGCGGACAGTGCTGAAACCAGGAATAATTCCAGTCATCCAGTCCCTCAGCAGGAGAACCAGGGTGAGTGCTGTTGCTGAATTACACGTCTGCGTCAGCTGCCCTGCATGTAGCCGTGCGTTCATTCTTCTGCGTTCTGTTAGTGTTGCTCTGACAATAACACTTCCCAAATGGGTTTCTATTTATTTGTTTATTTGGCAGGGACAGTGTACATTATTTAGCATTTGTGCCAATGCACCAGAATTAGCCCGAAGGCTATTTTTCATCTGTCGTTCCGCTGTGTCGAGTTGTTTCCTGGGTGTTTTGTTTACACTGGATTGCTAACTTTCTGTACACGTAGCTTAACCAGACGTGCAACAACTTTAGTCATAGA
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
hu2548
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 > A
Consequence:
Nonsense
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000033514 Nonsense 408 456 11 11
Genomic Location (Zv9):
Chromosome 17 (position 51732154)
Other Location(s):
Assembly Chromosome Position
GRCz10 17 51118264
GRCz11 17 51207299
KASP Assay ID:
554-0034.1 (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
AGACAATCAACTCAAAACCCTCTTGGCTTTGTTTCTCCTCAGGGTTTATG[T/A]CTGACTCTCCTCCTGCTGGCCATCTTCAAGAAGGCTCTTCCCGCACTCCC
Long Flanking Sequence:
TGGACAGACAGACAGACTGATAGACAGACAGACAGACAGATAGATAGATAGATAGATAGATAGACAGACAGACAGACAGACAGACAGACAGACAGACAGACAGACAGACAGACAGACAGACAGACAGACAGACAGACAGACAGACAGACAGACAGACAGATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGACAGACAGACAGATAGTTATTGATTTTTTTTATTTCAATAATATATTACTTGTTAATTTCTTTGGACTCTGATTTAATGGCTAAATTTAAAAACTGAAATACACTATTTTTTTCTCAACCTCTGTGAATAATAAAAAATAAAAAAAAGATGATCTGACTAACACATCTGCTATTCAGAATCACTATTCTGAGCAAATGCTTCAGTTTTGCTGCACAGTCCGTCAGACAATCAACTCAAAACCCTCTTGGCTTTGTTTCTCCTCAGGGTTTATG[T/A]CTGACTCTCCTCCTGCTGGCCATCTTCAAGAAGGCTCTTCCCGCACTCCCCATCTCCATAACCTTCGGCCTGGTGTTTTACTTTGCCACTGATAACCTCGTGCGGCCGTTCATGGACCAGCTGGCCGTCCATCAGTTCTACATATAGAGAGGTCGCCTCTCACACACTCCACTTTCATGCTCTTCAGGGAAACGTGAGCCCTGCAGACGAGCACACCTTTCCTCTTTTCTGGACATGTGACTGGATTCACACTAGTTTTTTTTATTTTGGCATTAAATGACTGGTTATTAATTACAGTGCCTCTCCATCTGATCCTGATATATGCTTTAGTAGCAGCATTGATCGGAACATTTGTTTTCGGAGAGAACGCAGAGCACATCTCAAGTCACACGTATGTATGAATGCATTAGCGTAGGGCAGGGGTGTCAAACTCAGTTGCTGGCGTTTAGCTCCAACCCTGCTTCAACACACTCACCTATAGGTTTCAAACAAGCCTGAAG
Associated Phenotype:
Not determined