ZMP
PDZRN4 (1 of 2)
Ensembl ID:
Description:
PDZ domain containing ring finger 4 [Source:HGNC Symbol;Acc:30552]
Human Orthologue:
PDZRN4
Human Description:
PDZ domain containing ring finger 4 [Source:HGNC Symbol;Acc:30552]
Mouse Orthologue:
Pdzrn4
Mouse Description:
PDZ domain containing RING finger 4 Gene [Source:MGI Symbol;Acc:MGI:3056996]
Alleles
There are 2 alleles of this gene:
| Allele Name | Consequence | Status | Availability |
|---|---|---|---|
| sa45861 | Nonsense | Mutation detected in F1 DNA | Not yet available |
| sa25444 | Essential Splice Site | Mutation detected in F1 DNA | Not yet available |
Mutation Details
Allele Name:
sa45861
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 > T
Consequence:
Nonsense
Transcripts:
| Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
|---|---|---|---|---|---|
| ENSDART00000129735 | Nonsense | 4 | 310 | 1 | 2 |
Genomic Location (Zv9):
Chromosome Zv9_NA498 (position 3534)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | KN150254.1 | 3534 |
| GRCz11 | KN150254.1 | 3534 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
TGCGTCCGGATCAGATCAGCCCATCTGAGACTCCAGAAGCGGAGCGTTTC[C/T]AGCAGCTGCTGGAGCTCAAGTGCCAGATCCGAAACAGCGGCGAGTACGAC
Long Flanking Sequence:
TGAGTTCACTGTACTCAAATGGCCTCCACAGTCACCAGAGCTCAATCCAATAGAGCAGCTTTGGGATGTGGTGGAACGGGAGATTGGCATCATGGATGTGCAGCCGACAAATCTGCAGCAACTGTGTGATGCTATCATGACAATATGGAGCAAAATCTCTGAGGAATATTTCCAGCAGCTTGATGAATCTCTGCCATGAAAGATTAAGGCAGTTCTGAAGGCAAAAGGAGTCCAACCCGGTTCTAGTCAGGTGTACCTAATAAAGTGGCCGCTGAGTGTTGATCCTGTGTATGTCTGAGTAATCCTGCTTTTTAATCCCCCTGCAGGCGAGAGTGGCTGAAGAAGAGTCCATCACAGCCTCCTGCTCCTACAGCCCTGAGCAGATCCTCCAGACGGACCCATCAGAGATGAGCGTCCTCTCCCAGATCCAGAAGCGTCTGTCTCGGTGTCTGCGTCCGGATCAGATCAGCCCATCTGAGACTCCAGAAGCGGAGCGTTTC[C/T]AGCAGCTGCTGGAGCTCAAGTGCCAGATCCGAAACAGCGGCGAGTACGACCTGCTGTACCGCAGATCCGTCCAGTGCAGCGGCGCCGAGAACGAGCTGCGCTTGCTGAACCAGGAGCTGCGCAGCATCCAGATCCAGTGCCAGAACATCATGCAGCGCCACAAGACGGACTCCAAACTCCCAGAGATCCAGGAGCATCCCGAGCGGTCGGATAAGGACAGCTCCAGTGCGTATAACACGGCGGAGAGCTCCCGCAGTACACCCCTCGCCACAGAGAGATCTCCAGAACACAGAACGCTCAGCCGCCGTCCCGAATCATCCATCAGGAGCGCCAGTCCGGATCACAGCAACCCGTCAGAGTCTCCAGACGAGATCTCCAGCAGGTCCCTGCACTCCAGGATCCCGGTGCATCAGTACCGGAGCTACATGCAGATGATCCAGGAGCAGACGGCGCTGGAGTTCGGGATGATCAACATGAGCGTCCCGCAGGAGGACAATAAG
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa25444
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:
T > C
Consequence:
Essential Splice Site
Transcripts:
| Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
|---|---|---|---|---|---|
| ENSDART00000129735 | Essential Splice Site | 183 | 310 | 1 | 2 |
Genomic Location (Zv9):
Chromosome Zv9_NA498 (position 4074)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | KN150254.1 | 4074 |
| GRCz11 | KN150254.1 | 4074 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
AGGACAATAAGATGGAGTGGAAGGTGAAGGTGCGGAGCGACGGGACCAGG[T/C]ACACACTGATCACCCTCATCTATCATTAACAGTCTGAAGCACACCACTGA
Long Flanking Sequence:
GCGAGTACGACCTGCTGTACCGCAGATCCGTCCAGTGCAGCGGCGCCGAGAACGAGCTGCGCTTGCTGAACCAGGAGCTGCGCAGCATCCAGATCCAGTGCCAGAACATCATGCAGCGCCACAAGACGGACTCCAAACTCCCAGAGATCCAGGAGCATCCCGAGCGGTCGGATAAGGACAGCTCCAGTGCGTATAACACGGCGGAGAGCTCCCGCAGTACACCCCTCGCCACAGAGAGATCTCCAGAACACAGAACGCTCAGCCGCCGTCCCGAATCATCCATCAGGAGCGCCAGTCCGGATCACAGCAACCCGTCAGAGTCTCCAGACGAGATCTCCAGCAGGTCCCTGCACTCCAGGATCCCGGTGCATCAGTACCGGAGCTACATGCAGATGATCCAGGAGCAGACGGCGCTGGAGTTCGGGATGATCAACATGAGCGTCCCGCAGGAGGACAATAAGATGGAGTGGAAGGTGAAGGTGCGGAGCGACGGGACCAGG[T/C]ACACACTGATCACCCTCATCTATCATTAACAGTCTGAAGCACACCACTGAATCTGTCCTCTCCTTCTGCTGCAGGTACATCACCAAGCGTCCGGTGCGGGACCGTCTGCTGCGCGAGCGAGCGCTGAAGATTAAAGAGGAGCGCAGCGGAGGAATGACCACCGACGACGACGCCATGAGCGAGATGAAGATGGGGAGATACTGGAGCAAAGAGGAGAGAAAGCAGCAGCTCCTGCGGGCGAAGGAGCAGCGGCGGAGGAGAGAAATGATGCAGCGCGGCCGGACGGACACCCACAACACCTCCATCATGGAGATCAGCCAGCGCAGGAGCACCAAGAGGAGGAACAGAAGGATCCTGGACAGCTGGATCACCATTCAGGAGCTGCTGAGCCACGGACACACAGCAGCAGCAGAGGGCGCCAGAGAGCACAGCGCCTTCCTCTCCGTCACCACCGTATGACTGACTGTACCCGCCGGGTACGATACCTTCTGCCTCGTTCA
Associated Phenotype:
Not determined