ZMP
npsn
Ensembl ID:
ZFIN IDs:
Description:
nephrosin isoform 1 [Source:RefSeq peptide;Acc:NP_001071247]
Human Orthologue:
ASTL
Human Description:
astacin-like metallo-endopeptidase (M12 family) [Source:HGNC Symbol;Acc:31704]
Mouse Orthologue:
Astl
Mouse Description:
astacin-like metalloendopeptidase (M12 family) Gene [Source:MGI Symbol;Acc:MGI:3046414]
Alleles
There are 4 alleles of this gene:
| Allele Name | Consequence | Status | Availability |
|---|---|---|---|
| sa12159 | Nonsense | Available for shipment | Available now |
| sa15667 | Nonsense | Available for shipment | Available now |
Mutation Details
Allele Name:
sa12159
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:
A > T
Consequence:
Nonsense
Transcripts:
| Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
|---|---|---|---|---|---|
| ENSDART00000017155 | Nonsense | 73 | 274 | 4 | 9 |
| ENSDART00000109463 | Nonsense | 73 | 280 | 4 | 8 |
| ENSDART00000138071 | Nonsense | 73 | 272 | 5 | 9 |
The following transcripts of ENSDARG00000010423 do not overlap with this mutation:
Genomic Location (Zv9):
Chromosome 7 (position 40049339)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 7 | 38385979 |
| GRCz11 | 7 | 38657237 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
GAGRGAACACRGATGGGCCAGTAATMCTGTTTGGAGACATCRCCTTTCCC[A/T]GAGGTTTGCAGAATGCAGATCAATGTACAGCTCGTGGCTGCWAATGGGAC
Long Flanking Sequence:
ACTGATATAGCCACAAATACAAAACATAAGTCAAATCTTGTACATTTTCTAATGCAAAACTAAATGTTTGATCAGTAATGTGCCAGGCCAAGAACTTTTCTCTGAATTTAGTTTTTTTGAACCCTCAGATTTTCATAGTTGTAATAATAAACCAAACATAAATGGAAATATTATTTATAAATCTCACTTAAAAATATCAGGCAGTTATTTTTATATCATTTTGTTATAAATTCACTATTATAGAAATATAAATAATTTCAATTTAGGTATAAGCAGCTTTACAGGACAGTGCTATTGCGTTTGGATGAAGTAATCCAGCGTTGCTACAGTTGATTTCAATAAATGAATACAACTTAATAATTTTGCTCTAGTCAATGCAGTAAAAGTGATGAATCCAGTAATATTAGCAAGGATAAACCTTTATTTTTATTGTTGACCACTACCATACAGGAGAGAACACAGATGGGCCAGTAATCCTGTTTGGAGACATCGCCTTTCCC[A/T]GAGGTTTGCAGAATGCAGATCAATGTACAGCTCGTGGCTGCAAATGGGACAGAAGCAGAGATGGATTAGTCTATGTGCCTTACCAGATATCTAGAGCGTACTGTAAGTGACGATGACACTTATCTTCACATTTTCTCTTTAGCACCTCGTATTCTGCTCAATAGTCGTATATTGTTTCCACACAGCTCCACGGGAAGTAGCAGTGATTGAACAAGGCTTGCAATCCTTTTCGGCGGTTTCCTGCATTCGTTTTGTGCCTCATACTGGAGAGAGGAACTATCTCAACATAAAGTCTGAATCTGGGTAAATATTTGCATTTTCTGTCATTTTCCTGTGTATAACAATATTGTTTTCGTGACGCACAAACATACACGCTGATTTCTGATGTGTGTTTGTGCGTGATCCGCAGCTGCTATTCATATTTAGGGCGGATAGGTGGAGGTCAGGTCGTGTCTCTCCAGCGGCAAGGCTGTGTGTATTTCAGCACCGTCCAGCACGAG
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa15667
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:
A > T
Consequence:
Nonsense
Transcripts:
| Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
|---|---|---|---|---|---|
| ENSDART00000017155 | Nonsense | 87 | 274 | 4 | 9 |
| ENSDART00000109463 | Nonsense | 87 | 280 | 4 | 8 |
| ENSDART00000138071 | Nonsense | 87 | 272 | 5 | 9 |
The following transcripts of ENSDARG00000010423 do not overlap with this mutation:
Genomic Location (Zv9):
Chromosome 7 (position 40049297)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 7 | 38385937 |
| GRCz11 | 7 | 38657195 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
CCTTTCCCWGAGGTTTGCAGAATGCAGATCAATGTACAGCTCGTGGCTGC[A/T]AATGGGACAGAAGCAGAGATGGATTAGTCTATGTGCCTTACCAGATMTCT
Long Flanking Sequence:
CATTTTCTAATGCAAAACTAAATGTTTGATCAGTAATGTGCCAGGCCAAGAACTTTTCTCTGAATTTAGTTTTTTTGAACCCTCAGATTTTCATAGTTGTAATAATAAACCAAACATAAATGGAAATATTATTTATAAATCTCACTTAAAAATATCAGGCAGTTATTTTTATATCATTTTGTTATAAATTCACTATTATAGAAATATAAATAATTTCAATTTAGGTATAAGCAGCTTTACAGGACAGTGCTATTGCGTTTGGATGAAGTAATCCAGCGTTGCTACAGTTGATTTCAATAAATGAATACAACTTAATAATTTTGCTCTAGTCAATGCAGTAAAAGTGATGAATCCAGTAATATTAGCAAGGATAAACCTTTATTTTTATTGTTGACCACTACCATACAGGAGAGAACACAGATGGGCCAGTAATCCTGTTTGGAGACATCGCCTTTCCCAGAGGTTTGCAGAATGCAGATCAATGTACAGCTCGTGGCTGC[A/T]AATGGGACAGAAGCAGAGATGGATTAGTCTATGTGCCTTACCAGATATCTAGAGCGTACTGTAAGTGACGATGACACTTATCTTCACATTTTCTCTTTAGCACCTCGTATTCTGCTCAATAGTCGTATATTGTTTCCACACAGCTCCACGGGAAGTAGCAGTGATTGAACAAGGCTTGCAATCCTTTTCGGCGGTTTCCTGCATTCGTTTTGTGCCTCATACTGGAGAGAGGAACTATCTCAACATAAAGTCTGAATCTGGGTAAATATTTGCATTTTCTGTCATTTTCCTGTGTATAACAATATTGTTTTCGTGACGCACAAACATACACGCTGATTTCTGATGTGTGTTTGTGCGTGATCCGCAGCTGCTATTCATATTTAGGGCGGATAGGTGGAGGTCAGGTCGTGTCTCTCCAGCGGCAAGGCTGTGTGTATTTCAGCACCGTCCAGCACGAGCTCCTTCATGCCCTCGGCTTCCACCATGAGCAGAACCGCAGC
Associated Phenotype:
Not determined