Busch Lab

ZMP

npsn

Ensembl ID:
ENSDARG00000010423
ZFIN IDs:
ZDB-GENE-040420-2, ZDB-GENE-050318-7
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
sa34128 Essential Splice Site Mutation detected in F1 DNA Not yet available
sa12159 Nonsense Available for shipment Available now
sa40960 Nonsense Mutation detected in F1 DNA Not yet available
sa15667 Nonsense Available for shipment Available now

Mutation Details

Allele Name:
sa34128
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:
A > G
Consequence:
Essential Splice Site
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000017155 None None 274 1 9
ENSDART00000109463 None None 280 1 8
ENSDART00000138071 Essential Splice Site None 272 None 9

The following transcripts of ENSDARG00000010423 do not overlap with this mutation:

Genomic Location (Zv9):
Chromosome 7 (position 40050504)
Other Location(s):
Assembly Chromosome Position
GRCz10 7 38387144
GRCz11 7 38658402
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
TACAGAAGCATATAAAACTCTCAGCTCAGATTGACCCAGTTCATTTTTTC[A/G]GAAAGCTGTCATCATGTACCTGTTGGTAGTGGTCATCTCTCTTCTGCTGA
Long Flanking Sequence:
CTCCGGGTGCTCCGGTTTCCCCCACAGTCCAAAGACATGCGGTACAGGTGAATTGGGTAGACTAAATTGTCCGTAGTGTATGAGTGTGATTGAGTGTGTATGGATATTTCCCAGAGATGGGTTGCAGCTAGAAGGGCATCCGCTGCATAAAAACATAAGCTGGATAAGTAGCCGGTTCATTCCGCTGTGTCGACCCCAGATTAAAAAAAGGGACTGAGCTAAAAAGAAAATGAATAAATGAATAGGTTGTAATATACCTTAACATAATATATTTTAATATTTAGTTTTTACATATAATTTGGCCTTGAGATTAATTTTGTTAGTAAAATTAATTGCTTTAAAAGTTAATCAATGAATGCATGCATATAAAATATAAATAGTCCAAAAGGCCATTCTAAATCCTAAACCACAAAGATTCATGAAGGCTGGTCACTGCACAGAAAAGGAAGTTACAGAAGCATATAAAACTCTCAGCTCAGATTGACCCAGTTCATTTTTTC[A/G]GAAAGCTGTCATCATGTACCTGTTGGTAGTGGTCATCTCTCTTCTGCTGAGCTCTGGTCCTGTTCAGAGCCGTCCTGTTGAGGTGAGAACAGAACAATGGTGTTGAAAAATGGAAATTTGTATTATTAGGATTTTATAAGCAATGGCTTAAATGTGTGTGTAAAATTCTTAAACAGGATTTAATTGAAAAAATGTCCAAGAAGACTGGTGGTAAGATGCAAAAATAAATAAATAAATAAATAAATAAATAAATATATAAATAATAATAATAAATAACTTGTACATTTGTAGGTTTTTATTAATAATTTATACATTTGTATCTCAGGTAACTTCACAAAGAAAGGTAATTTGCTAGTCTCATCTGTAATCGAGACCAGCAAACATGCAGGTAAGTGTTACTACATGAATTTGCTGGCACATCAGTTCAGGCAAATTCTTTTCAGATAATATGTACTATTATCAGAATCATCGAACTGAATTAAAATCACGTTTAAATAGTG
Associated Phenotype:
Not determined

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.
Availability:
Order Allele From ZIRC
Order Allele From EZRC
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:
sa40960
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:
Nonsense
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000017155 Nonsense 75 274 4 9
ENSDART00000109463 Nonsense 75 280 4 8
ENSDART00000138071 Nonsense 75 272 5 9

The following transcripts of ENSDARG00000010423 do not overlap with this mutation:

Genomic Location (Zv9):
Chromosome 7 (position 40049332)
Other Location(s):
Assembly Chromosome Position
GRCz10 7 38385972
GRCz11 7 38657230
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
CACAGATGGGCCAGTAATCCTGTTTGGAGACATCGCCTTTCCCAGAGGTT[T/A]GCAGAATGCAGATCAATGTACAGCTCGTGGCTGCAAATGGGACAGAAGCA
Long Flanking Sequence:
TAGCCACAAATACAAAACATAAGTCAAATCTTGTACATTTTCTAATGCAAAACTAAATGTTTGATCAGTAATGTGCCAGGCCAAGAACTTTTCTCTGAATTTAGTTTTTTTGAACCCTCAGATTTTCATAGTTGTAATAATAAACCAAACATAAATGGAAATATTATTTATAAATCTCACTTAAAAATATCAGGCAGTTATTTTTATATCATTTTGTTATAAATTCACTATTATAGAAATATAAATAATTTCAATTTAGGTATAAGCAGCTTTACAGGACAGTGCTATTGCGTTTGGATGAAGTAATCCAGCGTTGCTACAGTTGATTTCAATAAATGAATACAACTTAATAATTTTGCTCTAGTCAATGCAGTAAAAGTGATGAATCCAGTAATATTAGCAAGGATAAACCTTTATTTTTATTGTTGACCACTACCATACAGGAGAGAACACAGATGGGCCAGTAATCCTGTTTGGAGACATCGCCTTTCCCAGAGGTT[T/A]GCAGAATGCAGATCAATGTACAGCTCGTGGCTGCAAATGGGACAGAAGCAGAGATGGATTAGTCTATGTGCCTTACCAGATATCTAGAGCGTACTGTAAGTGACGATGACACTTATCTTCACATTTTCTCTTTAGCACCTCGTATTCTGCTCAATAGTCGTATATTGTTTCCACACAGCTCCACGGGAAGTAGCAGTGATTGAACAAGGCTTGCAATCCTTTTCGGCGGTTTCCTGCATTCGTTTTGTGCCTCATACTGGAGAGAGGAACTATCTCAACATAAAGTCTGAATCTGGGTAAATATTTGCATTTTCTGTCATTTTCCTGTGTATAACAATATTGTTTTCGTGACGCACAAACATACACGCTGATTTCTGATGTGTGTTTGTGCGTGATCCGCAGCTGCTATTCATATTTAGGGCGGATAGGTGGAGGTCAGGTCGTGTCTCTCCAGCGGCAAGGCTGTGTGTATTTCAGCACCGTCCAGCACGAGCTCCTTC
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.
Availability:
Order Allele From ZIRC
Order Allele From EZRC
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