ZMP
pdlim5
Ensembl ID:
ZFIN ID:
Description:
PDZ and LIM domain 5 [Source:RefSeq peptide;Acc:NP_001002654]
Human Orthologue:
PDLIM5
Human Description:
PDZ and LIM domain 5 [Source:HGNC Symbol;Acc:17468]
Mouse Orthologue:
Pdlim5
Mouse Description:
PDZ and LIM domain 5 Gene [Source:MGI Symbol;Acc:MGI:1927489]
Alleles
There are 3 alleles of this gene:
| Allele Name | Consequence | Status | Availability |
|---|---|---|---|
| sa13197 | Essential Splice Site | Available for shipment | Available now |
| sa26402 | Nonsense | Mutation detected in F1 DNA | Not yet available |
| sa18440 | Nonsense | Available for shipment | Available now |
Mutation Details
Allele Name:
sa13197
Status:
Available for shipment
For more information about the meaning of this status and other statuses, please see our FAQs.
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
Mutation:
T > A
Consequence:
Essential Splice Site
Transcripts:
| Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
|---|---|---|---|---|---|
| ENSDART00000099945 | Essential Splice Site | None | 551 | 1 | 14 |
| ENSDART00000145371 | Essential Splice Site | None | 220 | 1 | 5 |
Genomic Location (Zv9):
Chromosome 5 (position 8559226)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 5 | 7329878 |
| GRCz11 | 5 | 7834516 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
TTTCANNNCNNNGGAGTTTTGTTTTSCRTTTTGGGAAAAGTGMTGCTTTCTAAAGG[T/A]AAATCCATGATTGCATTGTTTATTGTRCTGTTGTTGTGGTTGCCAGGTTT
Long Flanking Sequence:
TGTAACGAGTGCAACATTTCTGTGATTGATAGCAGATGAAGAGCGCACTGACTAATGCATGATGACAGTACAGATCACATGTGGATCTCATCTCTATTCCAATGTTTACAGCAGTCTTACTCTTTTCCCATGGAGAATTACTGGACAGTATGGATACACATTGGCAGGCTAAAGCGTTCCCTCTTGGCGGGACGTCCAATCTGTCCCGATGAACATTCTGATCTTGATATCCTAATCTCAGAACCTTTGTTTTGGGGTTCTGGGGGCTTTATGATGGTTACTCCGTAATGTTTGGCAGCACGTCTAAGGTCTGTTCCCAAAATATCCGAGTGTAAGCCAAGCATCCCCCATCCCAACCCCCAAAACACACACACACACCCTTTGATAGATGAGTATAAATTGAATTTCTGCCGTCTGTTTGGATCAGTTTGTGTCAGAGCTTTAGACTTGTTTCACGGAGTTTTGTTTTCCGTTTTGGGAAAAGTGCTGCTTTCTAAAGG[T/A]AAATCCATGATTGCATTGTTTATTGTACTGTTGTTGTGGTTGCCAGGTTTCAATAACATATGCAGAATGTTTACATTTTTATATAATGATATATCAAAGTGTTTTTTATATAAAAATGTTTGAAGTAGCAGTAGATTTGTTTTGTTTTAAAGCATTGAATACATTTATTTAGCAAGGATGCATTAAATTCATCAAATGTTAAAGACATTAAATATTTTGCTGAAGATTTTTATTGTAATGAAATGCTGTTGTTTTGTTTTTACATTCAATTAATTAAAAAATCCTAAAAATGTATTCCAGCTTTTAACCTGTTAGCCAGCACTCAATTTTAGGGATTTACAGCTACCTAACTTTAAATAGTAACAGTTTCTGACTCCAGTAAGCTACAAACACAATTATTTATTATTGGAAAGAAGACACTTTGAGCTTTACTGTGTTAAAAGGGTAAGTTACATGTTAAAAAATATAAAAAGTTATATATTATGAAGTCATGAGAAAAA
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa26402
Status:
Mutation detected in F1 DNA
For more information about the meaning of this status and other statuses, please see our FAQs.
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
Not yet available
Mutation:
C > A
Consequence:
Nonsense
Transcripts:
| Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
|---|---|---|---|---|---|
| ENSDART00000099945 | Nonsense | 140 | 551 | 5 | 14 |
| ENSDART00000145371 | Nonsense | 140 | 220 | 5 | 5 |
Genomic Location (Zv9):
Chromosome 5 (position 8622664)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 5 | 7266477 |
| GRCz11 | 5 | 7771115 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
CATCACGTCATCCTCCAATAGGAGCGCTCGTCCATTTGGAGGGGCGGGGT[C/A]ACCACCCATAGCCTTCATTCCCTCCACTGCATCTGCTTTTGCACCCGCCT
Long Flanking Sequence:
TAATTCTAACATTATTTTTCAAATGGAAAATAAAAAAAAAAATGCTCAAAATGTTAGCATTAGTACTCTTTATAATAATACTGCAAAATGATAATTTTATTTATAAAAAAAGAAAACCTTTAAAAAAAAATGTTAAAAAAAAAAAAAAAACACTTTTATTCACTGGAAGATTTTAAATCCTCACAAGTTTGTCATGGTTACTTTACATTTCAGCAAACAAACATTTAAAAATATCTATTTTGCTATTTTGCAGTCATTGTCAGTTGTTTATGTTTCCTGAATCTCCTGTAAAACATTCATTGTCTGTTGACTTGTTGCATTACTGTTGTGGTTTGGTTTGAGTCCTGCATGTGCTTCCCTCCATGTTCAGGATGATTGTGTGGAAATCATCAAACCTGTTCCCATGACAACCTCCATTCCATTCTCCTCTGACATCACAAACTCCACCCACATCACGTCATCCTCCAATAGGAGCGCTCGTCCATTTGGAGGGGCGGGGT[C/A]ACCACCCATAGCCTTCATTCCCTCCACTGCATCTGCTTTTGCACCCGCCTCCACAGCTCAATACCCTAATCCACTGTCTCCGCCCACTGATGGCTCACCGAATCATCAGCCGGCGGTGCCCCGCCCATCAGTCTATAACACACCCATCAATCTTTACTCTGATGAGAATGCCTGTGAGGTTGCCATGGGCCAGAGGCGGGGCCTGCTGGAAAGCCAGGGTGAGAGCTGTCAGCTGAATGGGTAAGAGTTTGATTGACCCTTAATGCCTCACCCAATCTATAAACATGTGTGATGCCTGCTTTTTTGAGGAAGAAACTGTATAGGTGCACACACAAACTGACCCAGGCAATAATTCTCTATACATACTAGGTCAGTGGTTCTCAAAATATTTTCATCAAGTACCACCTCAGAAAAAAATTGTCTCTCCAAGTACCACCAAAATGAGCAGTATTGAAATATAGTAGCGTAGTAGGCCCAGTACAGCAGCTACAACTCTGCAC
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa18440
Status:
Available for shipment
For more information about the meaning of this status and other statuses, please see our FAQs.
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
Mutation:
C > T
Consequence:
Nonsense
Transcripts:
| Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
|---|---|---|---|---|---|
| ENSDART00000099945 | Nonsense | 212 | 551 | 5 | 14 |
| ENSDART00000145371 | Nonsense | 212 | 220 | 5 | 5 |
Genomic Location (Zv9):
Chromosome 5 (position 8622879)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 5 | 7266262 |
| GRCz11 | 5 | 7770900 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
ARAATGCCTGTGAGGTTGCCATGGGCCAGAGGCGGGGCCTGCTGGAAAGC[C/T]AGGGTGAGAGCTGTCAGCTRAATGGGTAAGAGTTTGATTGAYCCTTAATG
Long Flanking Sequence:
AACAAACATTTAAAAATATCTATTTTGCTATTTTGCAGTCATTGTCAGTTGTTTATGTTTCCTGAATCTCCTGTAAAACATTCATTGTCTGTTGACTTGTTGCATTACTGTTGTGGTTTGGTTTGAGTCCTGCATGTGCTTCCCTCCATGTTCAGGATGATTGTGTGGAAATCATCAAACCTGTTCCCATGACAACCTCCATTCCATTCTCCTCTGACATCACAAACTCCACCCACATCACGTCATCCTCCAATAGGAGCGCTCGTCCATTTGGAGGGGCGGGGTCACCACCCATAGCCTTCATTCCCTCCACTGCATCTGCTTTTGCACCCGCCTCCACAGCTCAATACCCTAATCCACTGTCTCCGCCCACTGATGGCTCACCGAATCATCAGCCGGCGGTGCCCCGCCCATCAGTCTATAACACACCCATCAATCTTTACTCTGATGAGAATGCCTGTGAGGTTGCCATGGGCCAGAGGCGGGGCCTGCTGGAAAGC[C/T]AGGGTGAGAGCTGTCAGCTGAATGGGTAAGAGTTTGATTGACCCTTAATGCCTCACCCAATCTATAAACATGTGTGATGCCTGCTTTTTTGAGGAAGAAACTGTATAGGTGCACACACAAACTGACCCAGGCAATAATTCTCTATACATACTAGGTCAGTGGTTCTCAAAATATTTTCATCAAGTACCACCTCAGAAAAAAATTGTCTCTCCAAGTACCACCAAAATGAGCAGTATTGAAATATAGTAGCGTAGTAGGCCCAGTACAGCAGCTACAACTCTGCACAGTAAAAAAAAAACATGGCAGATTACCTCAGAAATATAGGCTATATGTCATATATGGCACATTATATACATACTGTAATTTTTGATACATTTAGAAATATGTATAGCATATACATAACATATTTCATTCCTCCGCGTACCACTATAAGAAAGCCCGCGTTCCACTAGTGGTACACGTACCACAGTTTGAGAACCACTGTACTAGGTCATACCCAA
Associated Phenotype:
Not determined