Busch Lab

ZMP

si:ch211-250k18.6

Ensembl ID:
ENSDARG00000093964
ZFIN ID:
ZDB-GENE-070912-245
Description:
Novel NACHT domain containing protein [Source:UniProtKB/TrEMBL;Acc:B0S8F7]
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 3 alleles of this gene:

Allele Name Consequence Status Availability
sa37425 Nonsense Mutation detected in F1 DNA Not yet available
sa29720 Nonsense Mutation detected in F1 DNA Not yet available
sa39357 Splice Site, Nonsense Mutation detected in F1 DNA Not yet available

Mutation Details

Allele Name:
sa37425
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:
C > T
Consequence:
Nonsense
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000139587 Nonsense 95 714 2 6
ENSDART00000143041 Nonsense 174 519 3 3
Genomic Location (Zv9):
Chromosome 22 (position 9204266)
Other Location(s):
Assembly Chromosome Position
GRCz10 22 9235342
GRCz11 22 9265024
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
AAGCTCAAGAGATACAGGTTGAATGCAGACATTTGTTTAAAGCGTCTGAA[C/T]AAGACAAGCAGATCAGAACTGTCCTGACAAAAGGAGTCGCTGGCATCGGG
Long Flanking Sequence:
TCTGAAGAATGAGCTAGAAAAGTTTAAGAAAATATTACATGAAGAAAACACACACTACTTTGTAAAGGACTTTAATGAGAACAGGTGCAGAATAAAAGAAGCAGCTCTTGATATCACATTTTACTTCCTGAGAGAAATGAAGCAAGATGAAGCTGCTAATACTCTAGAAGGTGAGAGACTGTCAGATTATCACTTATAAATATAGGAGAGAAAGCAAACACAGTTATAGCAGTTTTTTGTTCCTGTGTTTAGATGAGCTGTTCTTCATTCATCAGCTGAAATGTGGCCTACAGAAGAAGTATCAGTGTGTATTTGAAGGAATTGCACAGCAAGGAGACTCCACACTCCTGAAGAACATCTACACAGATCTTTATATCACTCAGGGTGGCAGTGAACAGGTCAATAATGAACATGAGGTCAGACAGATTGAAGTTGCTTCCAGACGTCATAAAGCTCAAGAGATACAGGTTGAATGCAGACATTTGTTTAAAGCGTCTGAA[C/T]AAGACAAGCAGATCAGAACTGTCCTGACAAAAGGAGTCGCTGGCATCGGGAAATCAGTCTCTGTGCAAAAGTTTGTTCTGGATTGGGCTGAAGGAAAAGAAAATCAAGAGATCAGCTTCATATTTCCTCTTCCATTCAGAGAGATGAACTTACAGGAGAAAAAAAAACTCAGTTTGATGGAGCTTATAACTCAGTTTTTCCCAGAGACAAAAGGACTGAACCTTACAAGAAGGAATCGATTCAAAGTCCTGTTCATCCTTGATGGATTGGATGAATGTCGTCTTCCTCTGAACTTTGCTGGTAATGAGATGTGTTGTGATGTTTCGTCACCAGCCTCTCTGGATGTTCTCCTGACGAACCTCATCAAGGGAAATCTGCTTCCTTCTGCTCTCATCTGGATCACCAGCAGACCAGCAGCTGCCAGTAAGATTCCTCCTGACTGTATCGAGCGGCTGACAGAGATACGAGGATTCAATGATGCACAAAAGGAGGAGTACTTC
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa29720
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:
C > T
Consequence:
Nonsense
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000139587 Nonsense 335 714 4 6
ENSDART00000143041 Nonsense 433 519 3 3
Genomic Location (Zv9):
Chromosome 22 (position 9205043)
Other Location(s):
Assembly Chromosome Position
GRCz10 22 9236119
GRCz11 22 9265801
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
TGACACAGCTGTACACACACTTTCTGCGCTTTCAGATCCAGCAGAGCAGA[C/T]GAAAGTATGATGGAGAATACACACCAGATGTGTCCTGGGATAAAGACGCC
Long Flanking Sequence:
GTCGTCTTCCTCTGAACTTTGCTGGTAATGAGATGTGTTGTGATGTTTCGTCACCAGCCTCTCTGGATGTTCTCCTGACGAACCTCATCAAGGGAAATCTGCTTCCTTCTGCTCTCATCTGGATCACCAGCAGACCAGCAGCTGCCAGTAAGATTCCTCCTGACTGTATCGAGCGGCTGACAGAGATACGAGGATTCAATGATGCACAAAAGGAGGAGTACTTCAGAAAAAGACTGACAGATGAGAATCAGGCCAAAGAAATCATTGATCATGTTAAACAATCAAAGAGTCTCTTCATCATGTGCCACATCCCAGTCTTCTGCTGGATTTCAGCCACTGTTCTCCAGAACATTTTACAGGAGAAGAGAAATAATGATGTGAAACACAATCAGGCTGATCACACCTCCAAAACACTGCAGGAATCAAACACTGAAGACACTCCCAAGACTCTGACACAGCTGTACACACACTTTCTGCGCTTTCAGATCCAGCAGAGCAGA[C/T]GAAAGTATGATGGAGAATACACACCAGATGTGTCCTGGGATAAAGACGCCATCCTTTCACTGGGAAAACTGGCATTTGATAATCTGCAAAGAAACAACCTGATCTTCTATGACACAGACCTGGAAGCCTGTGGTATTGACGTCTATAAGGCCTCAGTTTACTCAGGCATGTGTACCCAGATCTTTAAGAAGGAATCAGGGATTGTACTTGGTACCATGTACTGCTTTGTTCACTTGAGCATTCAAGAGTATTTTGCAGCCCTTTATGCACATCTGATTCTGGACATCAACAAGAAAAGTGTGTTTGATCAAGACTCTAAAAACAGAAATGAGTCCATGATTGATTTGCTGAAGACTGCAGTGGACAAGACACTTGAGAGTGACAATGGACACCTGGACCTTTTCCTTCGCTTCCTTCTCGGCTTGTCTCTCCAGTCCAATCGACGACTCTTACGAGGTCTGTTGACACAGCAAGAACACAATGACCAGAGCAAAGAGGAA
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa39357
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:
Splice Site, Nonsense
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000139587 Splice Site, Nonsense 601 714 5 6
ENSDART00000143041 None None 519 None 3
Genomic Location (Zv9):
Chromosome 22 (position 9205917)
Other Location(s):
Assembly Chromosome Position
GRCz10 22 9236993
GRCz11 22 9266675
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
GTTGTATTTGTGCCACCTAATTCTGTGGTTGTTTTATTTCTCTTGTAGGT[T/A]AAATGATTGTAAGTTAACAGACAGAAGCTGTTCAACTCTGGCTGCAGGTC
Long Flanking Sequence:
TGAGAGTGACAATGGACACCTGGACCTTTTCCTTCGCTTCCTTCTCGGCTTGTCTCTCCAGTCCAATCGACGACTCTTACGAGGTCTGTTGACACAGCAAGAACACAATGACCAGAGCAAAGAGGAAATAGTTCAGTACATGAAGCAGAAGTTTGAAGCGAATCTTTCTCCAGAGAGATCCATCAATCTGTTCTACTGTCTGAATGAACTAAACGAACAAACTCTGGTGAAAGAGATTCAGACTCACCTTAGCAAAGGAAGTCTCTCATCTGCTGATCTTTCACCTGCCCAGTGGTCTGCTCTGGTATTTGTGTTGTTGACATCAGAGGAGGAGATGGAGGAGTTTGAGCTTCAGAAATTCAAGAAATCAGACGAGTGTCTCATCAGACTATCAGCAGTTGTCAAATCCAGCAGAAGAGCTCTGTAAGCAGTCAATATTAATAAAATTATGTTGTATTTGTGCCACCTAATTCTGTGGTTGTTTTATTTCTCTTGTAGGT[T/A]AAATGATTGTAAGTTAACAGACAGAAGCTGTTCAACTCTGGCTGCAGGTCTCATATCAGAAAACAGTCTGAAAGAGCTGAACATGAGCAATAATAATCTGCAGGATTCAGGAGTGAAGCAGCTCTGCACTGGACTGAAGAATATTAAGTGCGAGTTAGAAATCCTGAGGTACATTCTGTGATAATTGACATTTTGGTTTTAAACTTGAGCTCACATTAAACCGAAGATTTTAATATTCTTAAAATGCATTATGTACTGTTTTTATATGGCAGCATGCCATTTATATATAAGGGAAACGTGTCAATGTCCTCAAGGTTACACAGATGAATGAAGTCTCTGGCAACCATCACTGTTACTATGGTTATTGCTAATGTTTAAGGGAAGTGCATTTATTTTAAACTGATTAAAACTGATTGTATCTACCTAAATAATTAAATGATTTCATTTCTGCCAATTTAACAGACCATAGAATAAACAAAGTGTATTAATAGTTGTACGCT
Associated Phenotype:
Not determined