ZMP
pdlim7
Ensembl ID:
ZFIN ID:
Description:
Pdlim7 protein [Source:UniProtKB/TrEMBL;Acc:Q6NWL9]
Human Orthologue:
PDLIM7
Human Description:
PDZ and LIM domain 7 (enigma) [Source:HGNC Symbol;Acc:22958]
Mouse Orthologue:
Pdlim7
Mouse Description:
PDZ and LIM domain 7 Gene [Source:MGI Symbol;Acc:MGI:1914649]
Alleles
There are 2 alleles of this gene:
| Allele Name | Consequence | Status | Availability |
|---|---|---|---|
| sa39012 | Essential Splice Site | Mutation detected in F1 DNA | Not yet available |
| sa42442 | Nonsense | Mutation detected in F1 DNA | Not yet available |
Mutation Details
Allele Name:
sa39012
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:
G > A
Consequence:
Essential Splice Site
Transcripts:
| Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
|---|---|---|---|---|---|
| ENSDART00000044909 | Essential Splice Site | 142 | 393 | 7 | 13 |
| ENSDART00000108970 | None | None | 207 | None | 10 |
Genomic Location (Zv9):
Chromosome 14 (position 47606229)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | KN150637.1 | 22311 |
| GRCz11 | 14 | 51115727 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
ATATTTACATTCTTTTGCCCCCAGAAAAATTTTAGCATATTGCATTAAAA[G/A]TGAGGTATGTAAGTTTTAGACTTTTCTAAAGCAGAAAAACACTGTAATAT
Long Flanking Sequence:
AGAAAAAAAAAAATAACATGATGAGAAATGCAGGAAAAGTTGGGAAAAACCATGCAAAAGCGAGCCCTACTATCTATCTGTGTGACAGAGTGGTGTGATGTGGTTTCTACAAGCTGAAAGTTGTGTTGTTGTTGTTGTTGTTCTTTTTGTGGCTGTTCAGAGGTCGATCGCAGGAAGGTTTTCTTTTTGCTTCTATCTGATTGTTGTCCCTCTTGTGTCTTTCTCTCTTTATATTTCATGCTATTTTCCCCCTTCTGACTGTACTTTAGCTTAGTTCAGTGTTCTAATGTGATCTGATCGCTCTTCCTCTGGTTCTGTCTCCAATAAGATGAAGGAATCCGTTGACTCGTGTCTCTGAGTACATAAAACACTGTGAAACTCTCCTGCTGTCCTCCTTCATTTCCTTCAAACTCTGCATGCTCTAAACCAAAATATTAAAAAGTTTAAAGAATATTTACATTCTTTTGCCCCCAGAAAAATTTTAGCATATTGCATTAAAA[G/A]TGAGGTATGTAAGTTTTAGACTTTTCTAAAGCAGAAAAACACTGTAATATGTTTGCAGATATTCAGAAACATGCTCAGTAAACATTCTTGTTTATCTGAAAAACAATGCTGACGATATTCTGCTTTGAAAATGTGTGTTACATGCTGGAACGTCTGTCTTTGTTTTGGTTCATTTAATTGGCCCTGTGCCACTTTAGTCAATTATATTTAAACAGCATACAGGGCTCAACAATAAGGACTGCCCGGTGGCCCAGGGCCAGCGTGAAAGATGCTTGGGACAGTAGACAGGATAGATACTGGCCTGTAACGGTGAGCATGCTATTTTTTCGTAACATGGTAACAACAATTACAGCGAAAAGATGGCAACATCTAACTATGAGGCTAAAAGAAAACGTCAGTTTCAAAAGTCTTGGAAGCAGATAATTACATGGGTACAAAATTAAGAAACTGGAGAAAAAAAAAATAAAATAACAGTTTTGTCGGTTTGGCAAGCCATTTTT
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa42442
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 |
|---|---|---|---|---|---|
| ENSDART00000044909 | Nonsense | 256 | 393 | 11 | 13 |
| ENSDART00000108970 | None | None | 207 | None | 10 |
Genomic Location (Zv9):
Chromosome 14 (position 47593176)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | KN150637.1 | 9258 |
| GRCz11 | 14 | 51128780 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
CTGATCGCTGAAGTCTTTTGTGTTGCTGCTGTGTGTTTTAGGGGACGGTA[C/A]GTGGTGGCGCTGGGCCGCTCCTGGCACCCGGAGGAGTTCATGTGCTGCCA
Long Flanking Sequence:
AAATCTGAATTCAATGCTATTATGTGACACAGCTGTGATTTAATGTATTTTAATTATCCCTAACTATTGTCCCTTATTTAGTGCATTTTTGCTGCATTTTTAAACTGTGTTTGATGGTAGAAAGTGCTGTATTTTTGCTTTGTTTGCTATTATTTTTGCCCCAAACCGCTTTCTAAATTAGCAGTTAAAATCCCAAAGCTGCTGCTGGCAGCCTAAAATACCTGCAAATCAATGAAGACTATTCGCTAAATGTCATTACTTACAAAAAATGGTGAGGGAAAAAGGTTGTGTCCAACTTTGTAAGGCAGCAATATTTCTTGAAATCCGGCGAGCACAGAAATAGCGGCGTGTCCTTGGGCTCTCTGCCGTGGAGAATCAATACAGAATGGAGCCGGTTCCTGCGCCTGACCTACTATTTCCATTCCAGTGGCTTTTGCACACTGAGCACTTCTGATCGCTGAAGTCTTTTGTGTTGCTGCTGTGTGTTTTAGGGGACGGTA[C/A]GTGGTGGCGCTGGGCCGCTCCTGGCACCCGGAGGAGTTCATGTGCTGCCAGTGTAAAAGACTGCTGGACGAGGGCGGATTCTTTGAGGAGAAAGGCTCCATTTACTGCTCCAAGTGTTACGACAACCGATATTCACCCAACTGTGCCAAATGCAAGAAGATCATCACCGGGGTGAGCAAATGTGCTTCTGTAAACACACACTGAGGATGCATGAGGAGAACATCAAGGAGAAGTGATGCTGGAAAATCACAGCAGTAAATAATATTGGGGATTTGTTATAATATAATATAAGGGCAGCATGGTGGCTCAGTGGTTAGCACTGTCACCTTACAGCAAAAAGGTTGCTGGTTCGAGCCCCAGCTGGAATACATTGTCTCTCTCTCTCTTTCTCGCACTCCACAGGAGATCATGCATGCCCTGAAGATGACCTATCATGTGCAGTGTTTCCTCTGCGCCGCCTGCAAGCTGCCCATCAGGAATCAGGCCTTCTACATGGAGGA
Associated Phenotype:
Not determined