ZMP
NLRP6 (11 of 83)
Ensembl ID:
Description:
NLR family, pyrin domain containing 6 [Source:HGNC Symbol;Acc:22944]
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 2 alleles of this gene:
| Allele Name | Consequence | Status | Availability |
|---|---|---|---|
| sa30341 | Nonsense | Mutation detected in F1 DNA | Not yet available |
| sa38155 | Essential Splice Site | Mutation detected in F1 DNA | Not yet available |
Mutation Details
Allele Name:
sa30341
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 |
|---|---|---|---|---|---|
| ENSDART00000098333 | Nonsense | 352 | 881 | 1 | 6 |
Genomic Location (Zv9):
Chromosome Zv9_scaffold3487 (position 93459)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 3 | 58926353 |
| GRCz11 | 3 | 58985768 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
TCCAGTCCAACCGAGAAGTGATTGTCAAACTTGCTGAAGTGGCTTTCAAA[C/T]AGCTGATGAAGGGCAATGTGATGTTCTACAAGGAGGACCTGATTGAGAGC
Long Flanking Sequence:
ACTGTCAGAAAGTTTCTGATGTGACTGAAGCTTCATCAGTGAGTGTGTTGATGTCAAACCTCATGAAAGGAGATCTGCTTCCCTCCGCTCTCATCTGGATCACCACCAGACCAGCAGCAGCCAGTCAAATCCCCTCCAAATACGTCAATCGACTGACCGAAATTCAGGGATTCACTGAGCCTCAGAAGGAGGAATATTTCAGGAAGAGAATCAGCGAAGAGCATCAAGCCAGCAGAATCATCTCCCACATCAGAAGAGCAAGAAGCCTCCACATCATGTGCCACATACCCGTCTTCTGCTGGATCTCCTCCACTGTGCTTCAGAAGCTCCTGGAAGACGATCTGAGTGCAGAAATCCCTCAAACTCTGACTGAGATGTACATCCACTTCTTACTGATTCAGATCAGCATGAGGAACCAGAAGTATGAAGAGAGAGATCCAGAGAAACTCCTCCAGTCCAACCGAGAAGTGATTGTCAAACTTGCTGAAGTGGCTTTCAAA[C/T]AGCTGATGAAGGGCAATGTGATGTTCTACAAGGAGGACCTGATTGAGAGCAGCATAGATGTCTCTGACTCATTGTATTCTGGGATCTGCACTGAGATCTTTAAGGAAGAATCTGTGATTCATCAGAGGAAAGTCTACAGCTTCATCCATCTGAGCATTCAGGAGTTTCTTGCTGCTTTACATGTGTTTTACTACCACATAAGCAACACCACAAAAGCATGTTTCGATTCACTGCATAATCTCCATGAAAGAGTAGTAGATAAGACCATCGTGAGTGAGAATGGGCGCCTGGATCTGTTCCTGCGGTTCCTGCTGGGCATCTCACTGGAGTCCAATCAGAGCCTCTTACAGGATCTACTGACACGCACAGAGAAAAGCTCGGAGAGCATCGGGAGAAGCACACAGTACATTAAAGAGAAGATCAGAGATGGACATCAACTCTCCACTGAAAGATCCATCAATCTGTTCCTCTGTCTGCTGGAAGTGAAAGATCAGACTCTG
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa38155
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:
A > T
Consequence:
Essential Splice Site
Transcripts:
| Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
|---|---|---|---|---|---|
| ENSDART00000098333 | Essential Splice Site | 855 | 881 | 5 | 6 |
Genomic Location (Zv9):
Chromosome Zv9_scaffold3487 (position 99733)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 3 | 58932627 |
| GRCz11 | 3 | 58992042 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
AGTGTATGTGGACGTGTCCTCCGGCTCTCTGACCTTCTACAGCGTCTCCG[A/T]CACACTCACACACATACACACATTCAACACCGCATTCACTGAAGAACTCT
Long Flanking Sequence:
GTCAACATCTCAAAAAATGCATTTTGGTGTTTTGCGACCCTTTATTAAAAGGATGATGTTATCTGTGTTCTTATGTACAGATGCCTGTGATCTCACACTGGATCCAAACACGGCACACAATCAACTGGTATTGTCTGAGGAGAACAGAAAGGCAACAAATGTGAAAGATTCCCAGCCGTACCCCGATCATCCAGAGAGATTTGAGCAACAGGAGCAGGTTCTATGTAAACAGACTCTGACTGGACGCTGTTACTGGGAGGTGAAATGCAGCGGCTCATGTCAAGTAGGAGTGGTTTACAGAGGAATCAACAGGAAAACTGGAAGTAACTGTCGGTTCGGACGCAATGAAAACTCCTGGACTCTGTACTGCTATGATGAGGTGTACACAGTCTGGCACAATAATAAGAGCACAGAAATCATTGCTCCTTCAGCTCGTACTAATAGAGTAGGAGTGTATGTGGACGTGTCCTCCGGCTCTCTGACCTTCTACAGCGTCTCCG[A/T]CACACTCACACACATACACACATTCAACACCGCATTCACTGAAGAACTCTATGTTGGATTTAGCGTTTATCCTGAATCTTCAGTGTCTCTTTTTGAGATATAACGCCACTGAAATGTAGTTATTGTCTTCAACGTTCAGCCGCACCACTTGAGACTGTTTATGAGCACTTATTCTCACATACAGCAGTAACTGTGATGAGTATAGAAATCAAGCGTTATCCGTTAGTTCACCCTACTGAATAAAACAGCTTAAACCAGTCTAGGCTGGTTTAAGCTGGATTTTTCAGCAGGGCAGGCAGCCTCGTAGACAAGCTCTGCTTTCAGATGCCCCACCTTGCCCCATCAGCTAATCCAAGGCTGTTTCTTAATTCCAAGAATGCAGAGAACGGACTTGCATTCTTGTAAAGACCGGTCTTTGCCTGGTCACTACTCATTTAGGGAAACTCCTGAGTTGAATAAGTTATCTCTCTTTTTTTTATTTTTTTTTTTAAGATTTATTT
Associated Phenotype:
Not determined