Busch Lab

ZMP

zgc:55604

Ensembl ID:
ENSDARG00000013928
ZFIN ID:
ZDB-GENE-040426-754
Description:
pleckstrin homology domain-containing family B member 2 [Source:RefSeq peptide;Acc:NP_957296]
Human Orthologue:
PLEKHB2
Human Description:
pleckstrin homology domain containing, family B (evectins) member 2 [Source:HGNC Symbol;Acc:19236]
Mouse Orthologue:
Plekhb2
Mouse Description:
pleckstrin homology domain containing, family B (evectins) member 2 Gene [Source:MGI Symbol;Acc:MGI:

Alleles

There are 2 alleles of this gene:

Allele Name Consequence Status Availability
sa29751 Essential Splice Site Mutation detected in F1 DNA Not yet available
sa37480 Nonsense Mutation detected in F1 DNA Not yet available

Mutation Details

Allele Name:
sa29751
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
ENSDART00000006290 Essential Splice Site 140 223 6 8
Genomic Location (Zv9):
Chromosome 22 (position 16660024)
Other Location(s):
Assembly Chromosome Position
GRCz10 22 16411782
GRCz11 22 16438052
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
TGTGGCATCGGCTCCTCCACCATATTCTGAGCTAAACCCAACTCCACAGG[T/A]ATTTGTGTAATTTTTTTATTTTATTGAAGATATCCAGGTTATTTGGTTGC
Long Flanking Sequence:
TAATCAATGCATGTAAACATGTCAGCGTAAAACTTACTTAATACCGTTTATTTATTGAATATGACAATTGTCATAATGCAACACTAGGAGTTCCTCGCTCACTTTCCTTCGGTTTATTTTCTGCGTTAATTTTCCTTGCCACAATGGAATGAACCACCAATTATTCTGGCATATGTTTTACACTGCGAATGCCCTTCCAGAGAGTACATCCTACTCACACTAGGAGTTACATTCTCAAGTAAACCGCAGTTTACAAGAATAGCTCAACATATCAATCTGTTCTTGTAAACACAATTTACTCGCACCAGGTTATTGGTTTGCATGTAAACCAGGAAAACTGGATATTAACATGTTTTGTGAGTTATCTAGGTGTTGGCGTGCATGTAAACGTGCTCAATGTTGTGTTTTGTAGGTTGTGGCTCCTCCTCAGATGGGTTTTGTGGAGGATCCTGTGGCATCGGCTCCTCCACCATATTCTGAGCTAAACCCAACTCCACAGG[T/A]ATTTGTGTAATTTTTTTATTTTATTGAAGATATCCAGGTTATTTGGTTGCATGTGTTTTCGTTTTGGGTGTCCTCATTGTTTGTTTATGGACTGCTTTGACTACAGAGAGCTATTGAGGTCAGATTACATGTACAAGCAATGACTGAAGGTATATTGGCTGCTATAAAAGTGTTATCAGCAAGAAATAAAGCACAATAAGGCCAGTGAAAGAAAGAAAAAACTGCACATGTAATTTGTTATTTTGATGTTATGGCCATCAATAATTTTCTTTTTCTAAATGTCATATTTTTTTATTTTAATTTAATTTAATTGATGATGTTATATATCAGAAAAAATGCTTTTGGTTTCTTAATAAATGATTTGATTACATTTTATAGTTGGGAAATTTTTGTTTTATTAAAGTTAAAACAATAAAATAAAACAATATAAATGTAAAAGTTTTAAATGCATAAAATATTAAAGTACTAAAAATCATCAGTAAAATAATCACGAAATGTTT
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa37480
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
ENSDART00000006290 Nonsense 168 223 7 8
Genomic Location (Zv9):
Chromosome 22 (position 16659092)
Other Location(s):
Assembly Chromosome Position
GRCz10 22 16410850
GRCz11 22 16437120
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
TTCCTCATCCTCCACCATATGCGACACAGATGGTTTACTCAGCCGACGGG[C/T]AGCAGTATGCAGTCGCCTACCCTTATCACTATCAAGGTAACCCTAAATGG
Long Flanking Sequence:
TGTAAAAGTTTTAAATGCATAAAATATTAAAGTACTAAAAATCATCAGTAAAATAATCACGAAATGTTTTAATTTAATAATATTTCAACATTATAGATTAACAACAAAAGGTTTAGATTCAAATAGAACATAATTTAATTGCTTTGAAAATGTTTATGTAACAAATAAAAAACATTAAAATGGTTAAAATATATATATAAAAAAAGCATAAATATTACAAATTCAAATGTATAATATAGTAGATTTATAATATGTATAAATAAACATTTTTAGCCAGATGGTATTTATTTTACAACATAATGAATGGAAATAAATGATAAAAAGATCATAAAATAAATTATCTAAATAAAATAAATATGAGCATCCAATGATACTATGCAACTAATCTCTCATCTCTGATGATTTTCTCATTGATGCAGGTCTTTTATCCTGATGGTTATGGCGGTTACGTTCCTCATCCTCCACCATATGCGACACAGATGGTTTACTCAGCCGACGGG[C/T]AGCAGTATGCAGTCGCCTACCCTTATCACTATCAAGGTAACCCTAAATGGCTTGACATTTGTCCTAGAGCTGCACGATTAATCATTAAAATGTGCATTTTTATTCAGTGTTTGATGTAATCTCAACTAAAACACAAAACGAGGGCAGGACATAGTAGCTCCTCCCTTTTTAAAAAAAACACAAAAAAAACAATAGTGTGCCGTTTACATCACAGCTGTGCCAGTCAGATGTATTTTTCCCCTCTGGGCTTGCCGTAGATCAACGCTGTTTGGCAAACGTTTATTAATTTTTTTATATTTGCAAGTGTTTTGGTGAACACTCGGTTTGAACGCTCTTTGACATGAATAAATGACCGATTTTACCATGTAGTGATGATTAATAGAGTTTCTTCTAACAATCAACCAATGCTGGCATAACATAATGAATCAACTTGTAGTTTAGCATTTTATTCCCCCAACTTTATAATTATTGTAATATCAATTATTTGAATGTTTATGTGT
Associated Phenotype:
Not determined