Busch Lab

ZMP

plekhn1

Ensembl ID:
ENSDARG00000087844
ZFIN ID:
ZDB-GENE-090313-357
Human Orthologue:
PLEKHN1
Human Description:
pleckstrin homology domain containing, family N member 1 [Source:HGNC Symbol;Acc:25284]
Mouse Orthologue:
Plekhn1
Mouse Description:
pleckstrin homology domain containing, family N member 1 Gene [Source:MGI Symbol;Acc:MGI:2387630]

Alleles

There are 5 alleles of this gene:

Allele Name Consequence Status Availability
sa45004 Essential Splice Site Mutation detected in F1 DNA Not yet available
sa43977 Essential Splice Site Mutation detected in F1 DNA Not yet available
sa5977 Nonsense Mutation detected in F1 DNA Not yet available
sa18011 Nonsense Available for shipment Available now
sa39408 Essential Splice Site Mutation detected in F1 DNA Not yet available

Mutation Details

Allele Name:
sa45004
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:
G > A
Consequence:
Essential Splice Site
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000126479 Essential Splice Site 290 700 9 16

The following transcripts of ENSDARG00000087844 do not overlap with this mutation:

Genomic Location (Zv9):
Chromosome 23 (position 23539732)
Other Location(s):
Assembly Chromosome Position
GRCz10 23 23319039
GRCz11 23 23245590
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
TAACTGTGTGATGTACTCTGAATATAATCTTGCATGTATTTGAAATTACA[G/A]GGCAAACTTCCTCTCAATATGATCACAGTTACAACTCCCTGCCAGGACAT
Long Flanking Sequence:
TTGCTTTTCATAAAAGCATCTAATTATTAAATGTAAATTTAAACTATTATGATAATAATTAGTGCATCAAAGCCGTGGTTAATTTGTGGTTATAAAAACACATTCTTTTAGCAATTTGTAGTAAAGCAATGGTTTATTTTTTATAAGAGACAATGACTCTTCTGTGCCTTTGAAAACATTTTCATTCCTAGAGCAAAAATAGACTAAGTAACTGCAATAATGTCTAAAAACAACTCAATATCAGCATCTTGTGTATTGAACTGCAGTGCAAAAGCAATAATAACTGTAATTGAATTTCTCTCTTCGGCTCACAGGAGCAGTATGACCGTCTGCTGGTGCTGTACCCCAACTATCTCATAATTCTGTCAGAAGAGAGTGATGGCCTCTTTTACAAGGTATCTCAAAATAATTTCATTCTTGCAACAGAACGCAGCAGTAACGCCACGCAAATAACTGTGTGATGTACTCTGAATATAATCTTGCATGTATTTGAAATTACA[G/A]GGCAAACTTCCTCTCAATATGATCACAGTTACAACTCCCTGCCAGGACATCAAACCCAACACATTTATGATTGAGGGTGAGTTAACAAGCCATAATTCAATCACCGGATGTTATTGTACTTGGCAAAGATTTGATATTTTCCATAAAGATGAATGTAAGCTCTGATTGTTTTAGTGTCACACGCATGCTTCTGCACAGATACATAACTGACTCGAACTCTTGTGGCTTTTCATTGATAGGGAAGCTGATAAACCCCATCATCGTGTCCTGTCTGAACAAGAGCGAGTTCCACGACTGGATCCAGTATTTCAAAAACGCTGATGTTCCAATCCTCAGCCCTCCTCCCCCCGTGTATGACATCATTTACACTCCAACACAGAAACAGGTGAGCGTTCACTTCCATCTTGGACAAGGTGTTGAGTATCTTTGATACTGCGCGAAAGATATTCACATTCACGTTATTCTCAGGCTCCAGAGTTGGACAGGTGGAGCGCCAGCAG
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa43977
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:
G > A
Consequence:
Essential Splice Site
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000126479 Essential Splice Site 363 700 10 16

The following transcripts of ENSDARG00000087844 do not overlap with this mutation:

Genomic Location (Zv9):
Chromosome 23 (position 23540118)
Other Location(s):
Assembly Chromosome Position
GRCz10 23 23319425
GRCz11 23 23245976
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
GCCCTCCTCCCCCCGTGTATGACATCATTTACACTCCAACACAGAAACAG[G/A]TGAGCGTTCACTTCCATCTTGGACAAGGTGTTGAGTATCTTTGATACTGC
Long Flanking Sequence:
TTTTACAAGGTATCTCAAAATAATTTCATTCTTGCAACAGAACGCAGCAGTAACGCCACGCAAATAACTGTGTGATGTACTCTGAATATAATCTTGCATGTATTTGAAATTACAGGGCAAACTTCCTCTCAATATGATCACAGTTACAACTCCCTGCCAGGACATCAAACCCAACACATTTATGATTGAGGGTGAGTTAACAAGCCATAATTCAATCACCGGATGTTATTGTACTTGGCAAAGATTTGATATTTTCCATAAAGATGAATGTAAGCTCTGATTGTTTTAGTGTCACACGCATGCTTCTGCACAGATACATAACTGACTCGAACTCTTGTGGCTTTTCATTGATAGGGAAGCTGATAAACCCCATCATCGTGTCCTGTCTGAACAAGAGCGAGTTCCACGACTGGATCCAGTATTTCAAAAACGCTGATGTTCCAATCCTCAGCCCTCCTCCCCCCGTGTATGACATCATTTACACTCCAACACAGAAACAG[G/A]TGAGCGTTCACTTCCATCTTGGACAAGGTGTTGAGTATCTTTGATACTGCGCGAAAGATATTCACATTCACGTTATTCTCAGGCTCCAGAGTTGGACAGGTGGAGCGCCAGCAGCCATGGAGTTTCCGAGCCACCAAAGCAGGACAAACGCAGATCTTATGATCTCCAGCTGCCCAGTGCTGATGAAAACCCAATTTCCCCTGGTTATGCTGAGCCACTTTGCGTAAGTGTCAATCCCAGCAACCCATTAACATCAAACTGTGAACATATTTGTCCAGCTGCTGTGTGTTAAACTTGCTGAATTGCTCTTCCTGAAGTTAGTCAATGGTAATCCACAGATGTAAAATATTAGGCATTGTTCATCACGATGACTTGTATATTTATTTTAGAGGAGCAGCACATGTGGTTATAAACTAGACCAGCAGCGTTTCCTTTGGACTGTTAATAATTAACTGTGTGACTGATTTCCGCTGTTACCACCTACAAGAATCTTATGAATT
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa5977
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:
A > T
Consequence:
Nonsense
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000126479 Nonsense 439 700 12 16

The following transcripts of ENSDARG00000087844 do not overlap with this mutation:

Genomic Location (Zv9):
Chromosome 23 (position 23541922)
Other Location(s):
Assembly Chromosome Position
GRCz10 23 23321229
GRCz11 23 23247780
KASP Assay ID:
554-3781.1 (used for ordering genotyping assays)
KASP Sequence:
AGTACTCAGCTCATCTAGGCAGCAGGAGCAGCAGCTTCTCCTCTCGTGTC[A/T]GACCCGTTCCTGACCACCGTCCCATTTCACACCACTACCCCTCCCCTCCA
Long Flanking Sequence:
TTTCGGCTTAGTTACTTTATTTATCTGGGATCGCCAAAGCAGAATGAACCGGCAACTTATCCAGCATATGTTTCATACAGTGGATACCCTTCCATCTGCAACCCATCGCTGGGAAACATCCACACACACTCATTCACACACATACACTACGGACCATTGAGCTTACACAATTCACCTATAGCACATGTTTTTGGACGGTGGGGAAACCGGAGTACCCAGAGGAAACCCATGCGAACAGAGTGAACATGCAAACTCCACACAGAAAAGCCAACTGACTCTATACAATCTTATATTTTAAAACAAATGTTTATATTTTTTGTAAACAACACTGAAATAGCATTTAATCAATTGTTGTCTGTGATCTGAAAAGAAATAAGCCCTCTTAACCAGTTCTGTCTTTGTGTGTGTCGATACAGTTTATTTCCAGCAGGCCGACCTCCTCAGACACCCAGTACTCAGCTCATCTAGGCAGCAGGAGCAGCAGCTTCTCCTCTCGTGTC[A/T]GACCCGTTCCTGACCACCGTCCCATTTCACACCACTACCCCTCCCCTCCAAAGCCATCCTATCTCGCCTCTGAAGTGGTCCTGTCACCAGTTTACAACACACCGTACAGTGCAATGCATCGCAATGGCCCTGTTCAACGTATTGAGAAGGCCCCGCTAGTCAAGGTAACAGGCCATAGTTATTGATTACATAATTAAAAGGATAGTTTAATGTAAGTTTGTCTTTGTTTGGTTGTGGTATTGGTGTCTAATGTTATAGCTTAGTTTAAATGTATTCTTTTTGGTTTTGGAATTTGTCGTTTTAATTTAATGTACTTTTTGTATTAGTTTAATGATGATTTTGTGTATTTTTGCCATTTTATTTGTTGGACCCCTGGAACAATAAGTCACTACGTTGGTAAAGGCTAATTAGGATCTAAATAAACACATTTACCCCCTAAAAAATTAAATTCTGTCATCATTTACTCACCCTCCATTTGTTACAAACCTATTTGAGTTTCT
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa18011
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
Order Allele From EZRC
Mutation:
G > A
Consequence:
Nonsense
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000126479 Nonsense 591 700 14 16

The following transcripts of ENSDARG00000087844 do not overlap with this mutation:

Genomic Location (Zv9):
Chromosome 23 (position 23544505)
Other Location(s):
Assembly Chromosome Position
GRCz10 23 23323812
GRCz11 23 23250363
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
AGGAAAAACAGACCYGGTCAGGCCCTSGAGCCCGAGGTCAACAGCGAGTG[G/A]TCAGATGAACTACGTGCCAGAGCYGTTTCTAAACTGAAGATAYTGCCCAC
Long Flanking Sequence:
TTTATGCAGCAGACAAATGTGGGAAATGACAGAAAACTTTTGATTGAGTTTATTCAGCTAATTGGGTTTCAACTAAATAGTTTTTAATTATATAAATTTTTACTTCATACTTTTTATATGTCAGTTTTTTTATTTTATATGTCAGTTTGATTAGTTTGAAGTTGAAATAACTAGAAAACTTAGTTTGATTCAACTTATAACAATTTAGGCAGCAATTTTTCACTCCCTTTTTTTTACAGTCAAGTCTTTCCAAGTAATAAAGTTTTTAATCAGCTTTAATTAATTATGTTATTTTTTTACCAAATAAATGAATAAATGAATAAAAATTGCAAATCTTCTAAAAAAAGTGCATGTTTTTCTGCTATACAGCACTCGTCTCGAGGCTCTGTGGAGCAGTCGTATCCTCCTCTCCTTCCTCCCACTTTCCGGCTGTGCACTCCTCCTCTCGGGAGGAAAAACAGACCCGGTCAGGCCCTCGAGCCCGAGGTCAACAGCGAGTG[G/A]TCAGATGAACTACGTGCCAGAGCTGTTTCTAAACTGAAGATACTGCCCACTCCAAACCGACAGACACAGCACAACCACATCTCTCAGGTAATTGGAGTTTTGTAGTTTTCCCTTAAAGGATTGTGATGTGTTAATGAGTCCCATCCATACACACTCATGATATATAGATGCTGTGAGGCGACAGCACTCCCTACTGCGCCATTGCATCGCCTGCTACCCCTTTAGTTCAGCATATATTTATATAATAATCAAGCAATATACGTATTGTGACCTGTACTAAGTAAATGGGTGAAACCTGATAGTTTAAAAGACCGTGGCATGTGTAAAGGTTTAAATGGACAACTAATTAGAATTTTTGGCTGCACATTGTTACACTGAATGAATAGTCATTTATTTTGTGCATAGAAAATAAAATAAATAGAACACATTGCAATCAATGTATGGAGAAATAATGTATGGAGAAATGGTCCCAAACAGAATTCCTTTCAAATATTACAAAT
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa39408
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:
A > T
Consequence:
Essential Splice Site
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000126479 Essential Splice Site 641 700 16 16

The following transcripts of ENSDARG00000087844 do not overlap with this mutation:

Genomic Location (Zv9):
Chromosome 23 (position 23546344)
Other Location(s):
Assembly Chromosome Position
GRCz10 23 23325651
GRCz11 23 23252202
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
AAAAAAACAGTAGTATTTGAAGCACTGAATGATTTTCTTTTGCTCCTCAC[A/T]GATGACTCTTACCTTCAGCCGGTGGAGCCAGATGACCTGGAAATGGACTA
Long Flanking Sequence:
TAAATGACAGCGCTGCAGGTGGCACATGAAGGAAAGACCAGCGAAAGGACAGAATTACCACTGAGAGTGATTTAAAGCTCACATGTGGGAGATCCTTCAAGACGTCTCATAGCCGCTCTGTGAAAAGAACACAACAAACCGCATGTTAAATCTTACATTAGGGCATGAAGAATTTAGATGGCTCAGTTTACTGGCCTCCTAAACGTGAGGAATTTGATTTTAATAAAACAATGTTGTATTTTATTAAAATAATAATAATTAATTAAATAATTTGTACCTATTAACTGCAAAAAAACAAACAAACTAGGAAACCCATTAATCATAAAGAAATTTTATTTAAAAAAAGTGGACATATCTGTAGTATAAATGTTTCAAAGCTCAGTTTTAAACTATTGTATGTTGGTGCTGTTTCTATAGAACAATATCTTTTTACATTAATTGTACATTTAAAAAAAAACAGTAGTATTTGAAGCACTGAATGATTTTCTTTTGCTCCTCAC[A/T]GATGACTCTTACCTTCAGCCGGTGGAGCCAGATGACCTGGAAATGGACTATGATAACATATGGGAGTTGGAGCAGGATAACAGGATGATTCAGCCTCTGCCTGGAACTTCACCACACCGGACACAGGCTTACTTTGGGGCTCAGGGCCTGGGCACAATGACAACACAACAGAGATGGTCATGAAAGAGAACAATGGGCTCATGCCCGTCCGGACTTGCACACACTGCAGACTAATCAAAGCCACAGATGCACAATGGGCATGTCTTTACCAGAGGCCAGCATGCCCAAGTAACAGGATATTCACAGTTTGTTTATTCAGTGGCTCTGTGACATACTTTGCACATGTACTGTCTTTTAATTGTATGGTGAGGGTTTCAGACTGCTGTATGCATTTGGTACGAACAGGTGTAATGCATTTATGTACATATGAATACAATATATATTTTTTCAAAGGTAGCATTTTGGAGCTTTGCATATAGTTTAGTTTGTGTACAATTGAA
Associated Phenotype:
Not determined