Busch Lab

ZMP

si:ch211-233m11.1

Ensembl ID:
ENSDARG00000074653
ZFIN ID:
ZDB-GENE-081028-16
Description:
Novel NACHT domain containing protein [Source:UniProtKB/TrEMBL;Acc:B8A5N5]
Human Orthologue:
NLRP6
Human Description:
NLR family, pyrin domain containing 6 [Source:HGNC Symbol;Acc:22944]
Mouse Orthologue:
Nlrp6
Mouse Description:
NLR family, pyrin domain containing 6 Gene [Source:MGI Symbol;Acc:MGI:2141990]

Alleles

There are 4 alleles of this gene:

Allele Name Consequence Status Availability
sa7372 Missense Mutation detected in F1 DNA Not yet available
sa10856 Nonsense Available for shipment Available now
sa9886 Essential Splice Site Available for shipment Available now
sa22201 Essential Splice Site Available for shipment Available now

Mutation Details

Allele Name:
sa7372
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:
G > A
Consequence:
Missense
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000058017 Missense 391 766 1 7
ENSDART00000102758 Missense 391 704 1 3
ENSDART00000104483 Missense 388 822 1 8
ENSDART00000138143 Missense 400 528 1 1
Genomic Location (Zv9):
Chromosome 13 (position 2461746)
Other Location(s):
Assembly Chromosome Position
GRCz10 13 2705492
GRCz11 13 2838670
KASP Assay ID:
554-4120.1 (used for ordering genotyping assays)
KASP Sequence:
TGGGCTGGTATCAGRGMAGAGTTTTCTGCTTTGTTCATCTCAGCATTCAG[G/A]AGCATCTCGCAGCTCTAYATGTGCTGCTTTCATTCTCGCTGTACAAGAGG
Long Flanking Sequence:
ATCGATTGACAGAGGTACGAGGCTTTAATGACCCTCAGAAAGAGGAATACTTCAGGAAGAAGATCAGAGATCAGAGTCTGGCTAACAAAATCATCTCACACCTGAAGTCCACCAGGAGTCTCTTCATCATGTGCCACATCCCAGTGTTCTGCTGGATCTCAGCAAGTGTTTTGGAACAGATGATGAGATCACGTAAAGGAGAGATTCCCAGGACTCTCACTGAAATGTACACGCAGTTCTTGATCATTCAGACCAACATCAAACATAAGAAGCACTATGAGAAGACTGTGGAGGACGAAGAGATAATCCTCAAACTGGGGAAACTGGCCTTTCTGCAGCTTGTGAAAGGCAACCTGATCTTCTATGAGGAGGACCTGAGAGAGTGTGGCATTGATGTGGCAGAAGCCTCGGTTTACTCAGGACTGTGCACTCAGATCTTCAGAGAGGAGCTGGGCTGGTATCAGGGAAGAGTTTTCTGCTTTGTTCATCTCAGCATTCAG[G/A]AGCATCTCGCAGCTCTACATGTGCTGCTTTCATTCTCGCTGTACAAGAGGGATGTGCTTAATGAAAACCTCAGATCAACACATGCACGTAAATTCACATGTCACACAATATCTGACCTGCACCAGAGAGCCGTGGACAAAGCTCTGCAGAGTAAAAATGGACATCTGGACCTTTTCCTCAGATTTCTTCTGGGTCTTTCACTAGAGTCCAATCAGATGCTCCTGAAAGGTCTTCTGACAAATCTTGGAAACATCTCATTCAGTGAAGAGAAATCAACAGAGTACATTAAAACAAGAATAAGAATGAATCCCTCACCGGAAAAATCCATCAATCTGTTCCACTGTTTAAATGAACTCGGTGATCCTTCTCTTGTGAAGGAAGTCCAGCAGTATGTTAGATCTGGATGTCTTTTAAACACCAGATTGTCCTCCTCGCAGTGGTCTGCTGTTGTTTTTGTTTTGGTGAACTCTGAGCAGCTGGATTCTTTTGATTTGAGCAAA
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa10856
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:
C > A
Consequence:
Nonsense
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000058017 Nonsense 468 766 2 7
ENSDART00000102758 Nonsense 476 704 1 3
ENSDART00000104483 Nonsense 473 822 1 8
ENSDART00000138143 Nonsense 485 528 1 1
Genomic Location (Zv9):
Chromosome 13 (position 2461490)
Other Location(s):
Assembly Chromosome Position
GRCz10 13 2705748
GRCz11 13 2838926
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
GTCCAATCAGATGCTCCTGAAAGGTCTTCTGACAMATYTTGGAAACATCW[C/A]ATTCAGTRAAGAGAAATCAACAGAGTACATTAAAAYAAGAATAAGAATGA
Long Flanking Sequence:
CATCAAACATAAGAAGCACTATGAGAAGACTGTGGAGGACGAAGAGATAATCCTCAAACTGGGGAAACTGGCCTTTCTGCAGCTTGTGAAAGGCAACCTGATCTTCTATGAGGAGGACCTGAGAGAGTGTGGCATTGATGTGGCAGAAGCCTCGGTTTACTCAGGACTGTGCACTCAGATCTTCAGAGAGGAGCTGGGCTGGTATCAGGGAAGAGTTTTCTGCTTTGTTCATCTCAGCATTCAGGAGCATCTCGCAGCTCTACATGTGCTGCTTTCATTCTCGCTGTACAAGAGGGATGTGCTTAATGAAAACCTCAGATCAACACATGCACGTAAATTCACATGTCACACAATATCTGACCTGCACCAGAGAGCCGTGGACAAAGCTCTGCAGAGTAAAAATGGACATCTGGACCTTTTCCTCAGATTTCTTCTGGGTCTTTCACTAGAGTCCAATCAGATGCTCCTGAAAGGTCTTCTGACAAATCTTGGAAACATCT[C/A]ATTCAGTGAAGAGAAATCAACAGAGTACATTAAAACAAGAATAAGAATGAATCCCTCACCGGAAAAATCCATCAATCTGTTCCACTGTTTAAATGAACTCGGTGATCCTTCTCTTGTGAAGGAAGTCCAGCAGTATGTTAGATCTGGATGTCTTTTAAACACCAGATTGTCCTCCTCGCAGTGGTCTGCTGTTGTTTTTGTTTTGGTGAACTCTGAGCAGCTGGATTCTTTTGATTTGAGCAAATATATAAGCAGAGAAAAACATGAAAACGTCATGACACCTGATGAAGTTCTTCAGAAGCTCGTGCCCGTAGTTGAAGCCTCTAGATCGGCTAGGTAAGTATTATTTGTGTGTGTGTGTTTGTTGTAGTGCAGTGCTTTATTTGTCTTTGTTGTTGATGGCAGTATACATTTTTTTCAATAATAAACTAATTAATAATAATAAATAAATACTCATTTTATTCACACAAAATATGTTTTGTGGAGGCATTTCCTCCTAT
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa9886
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:
G > A
Consequence:
Essential Splice Site
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000058017 Essential Splice Site 697 766 5 7
ENSDART00000102758 None None 704 None 3
ENSDART00000104483 Essential Splice Site 753 822 6 8
ENSDART00000138143 None None 528 None 1
Genomic Location (Zv9):
Chromosome 13 (position 2454667)
Other Location(s):
Assembly Chromosome Position
GRCz10 13 2712571
GRCz11 13 2845749
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
CTGCTGTCTGATGGACTGAAGGATGCTCACTGCAAACTGGAGAAACTGAG[G/A]TGAGATCAGACATTAACCTTATCCAGATTAAATAAATAATTTTTTTCATT
Long Flanking Sequence:
GATTAAAGTTCAGTGTTGTTACAGTAGAACTGTAGCAGATTTTCATCAGGTTTGTTTTTTTATTTGTATTTTAAAGTTTGAATAACAGTTTGAATAGAGTATGTAAATGAGCTGGCCTGTAGGTACATACTGTTTACATACATTTGTTGTGTGTAAGAAAATAAATCAAGTCATGAAAATATTAGTCATTAGATGCATATTGTCTTAAAACAAAACACAACACATGGTCTGTTGATGTTCTCACAACTTTGAAAAAGTGTAATTGTAAATTGTAATTTGACTCTGTGTTGATTGTTGTTTCTGCTGAACTGAGAACTGACCTTGTTCTGCAGGTTGTGCAATTGTGAAATCGAAGATTGTGCCGATTTGGCTTCAACTCTGAAATTAAATTCCTCAAACCTCAGAGAACTGGATCTAACTGGGAATAAACTTGGAGATTCAGGAGTGAAGCTGCTGTCTGATGGACTGAAGGATGCTCACTGCAAACTGGAGAAACTGAG[G/A]TGAGATCAGACATTAACCTTATCCAGATTAAATAAATAATTTTTTTCATTAGTTAGTAAGAGTTTTTTTTAATAACTGTGCCGCAATTAAAAACTGTTTACATATTCAGTGGTACAAAAGACATACTGAACATACTGCAAATAATTTTGCTTTCGGTTTGTCATTATTCTCCACAACATGCAAAACTAAATATTTTCAGCACACTTTTCAACTGCTAACACACTGCTTTCAAAAAATGTGAGATGTGCTCTAGAGTGGTGCTATCTTCAGGTTAAAGTATGTTGGGTTTTAGTTTGTGAGTGAGGGAAGGATGGAACGTGAGATTGACAGGCTGATCAGTGCAGCAAAGGTCTTGATTTACCTGTCAATCTACATTCATACTCTCACCTATGGTCATGAGCTTGATGAGCTGATACAAGCAACAGTAATGAGCAGGGCCAGACGGAATCTGCGGACATTTTTTGCCATTTTTGCGAAGAATTTTGGTAAAAATCTGCAGA
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa22201
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
Mutation:
G > A
Consequence:
Essential Splice Site
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000058017 Essential Splice Site 755 766 6 7
ENSDART00000102758 None None 704 None 3
ENSDART00000104483 Essential Splice Site 811 822 7 8
ENSDART00000138143 None None 528 None 1
Genomic Location (Zv9):
Chromosome 13 (position 2451685)
Other Location(s):
Assembly Chromosome Position
GRCz10 13 2715553
GRCz11 13 2848731
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
CTGCTCTCTGATGTAAAAGATGATCCTAATTGTAAACTGGAGACACTGTG[G/A]TAAGTAGTAATCACTTGCATATTATATGATAATGTCATTTGAGCTACCAG
Long Flanking Sequence:
TAATGATGTCCTGCTTTAGTCTCAACCATGTTTTGGTTGGTACATGCCATGATAATGTGTGGGCTATTCCCAACATTAGGGGTTGGCTGTGTTGCGTCAACAAGGGCATCTGGTTTCTAAAGTAAATAAAATGGTCTCAGATTAACACTGTCAGTGTTTGTCATTCAGAAGGCATACATTTCACTCATAACACACTGACCGCACTCTCAATTCCATTAGCCTTATTTATTATGTGTTATAAATTAAATGCATACTTTCTGGAGGAAAAACGTGGGCAGTGTTACAGTAAAACTTAACTGTATGTCTCTGTGTTTGTTGTTCTGAAGGTTGATTAAGTGTGGCATCACGGATGAAGGTTGTACTGCTTTGGCTTCAGCTCTGAGATCACCCTCCTCAAACCTCAGAGAACTGGATCTGACTGGGAATAATGTAGGAGATTCAGGAGGGAAGCTGCTCTCTGATGTAAAAGATGATCCTAATTGTAAACTGGAGACACTGTG[G/A]TAAGTAGTAATCACTTGCATATTATATGATAATGTCATTTGAGCTACCAGTCAACATTCAGAAGGCATACGTTTCAATTATTGACCTCAATTACTGTCTGCAGCAATGCTTCATAATGTGTGTGTGTTACTGTGTGTTTCATTTAGTACCTACAACTAATAAAGGATGGTGGTTATGGAGTCACTGCAGACTGTATTCAACAGAACTGAAGACTCAGTGCTGGAGACAAAAAAAAAGACTCTGGATTATATGGATATTTGCCTAATAACAGCATTAATGAACTGCTTTTTTAATCATCAACTCACATAAGGGTTACAGGTTTGCTCTTGATATTGGTGGGGACCTATAAATCCTTCACCAAACCCCATCACCCCCATCCCAAAATCACTTTACATTAATACTAACACTGCTAATCAATTTACTGGAATCGTTCATTCTTAATACAATCAGTTAAATGAAGAAATAGTGTAATGTTAAAGCAATGTTTAATAACTCACACA
Associated Phenotype:
Not determined