Busch Lab

ZMP

si:dkey-15g19.1

Ensembl ID:
ENSDARG00000004184
ZFIN IDs:
ZDB-GENE-091111-4, ZDB-GENE-091118-59
Human Orthologues:
AL929601.1, NF1, NF1P4, NF1P5
Human Descriptions:
Uncharacterized protein [Source:UniProtKB/TrEMBL;Acc:C9IYV8]
neurofibromin 1 [Source:HGNC Symbol;Acc:7765]
neurofibromin 1 pseudogene 4 [Source:HGNC Symbol;Acc:7769]
neurofibromin 1 pseudogene 5 [Source:HGNC Symbol;Acc:7770]
Mouse Orthologue:
Nf1
Mouse Description:
neurofibromatosis 1 Gene [Source:MGI Symbol;Acc:MGI:97306]

Alleles

There are 6 alleles of this gene:

Allele Name Consequence Status Availability
sa16515 Nonsense Available for shipment Available now
sa21786 Nonsense Available for shipment Available now

Mutation Details

Allele Name:
sa16515
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 > T
Consequence:
Nonsense
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000021631 Nonsense 1327 2759 31 57
ENSDART00000131897 None None 636 31 57
Genomic Location (Zv9):
Chromosome 10 (position 38650037)
Other Location(s):
Assembly Chromosome Position
GRCz10 10 37373052
GRCz11 10 37316810
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
AGCGTTTTCCTCAGAACAGCATTGGAGCTGTAGGCARTGCCATGTTCTTG[C/T]GATTCGTRAATCCAGCTATAGTCTCWCCATACGAGGCTGGGATTCTTGAC
Long Flanking Sequence:
CTCGACTCAAGCCATAAGTGTTTATTTTTAACTCTGGGATCACCTTTAGGCTGCTCTAATAGTAGAACAGCAACTACTGGAAAGGTGGGGATAGAGATAGTAAGTCATCTGATTGGTCGAATTTAGATAACCAATAGAGTAAATGTAATTTATCACACCTCTTCGATTACGTTTATTGCATATGCTATTATCATGATAACAAAATTTAGCGATTTTTTTTTTATTGTGCAGCCCTAATCACTATCTATTAATCCACTTATTATTATCAATTGATTAACTACACCTCCCGTAAACTAAAGTTTGTCTGGTTTAGCTTTAAATTGCACTTGAAAATTGTGAGATTGTGGATCTGCTTTGTAAATCTTGATGAAATGGTGCCATGGTTCTCCAGGTGTAAAATTCTTCTTATCTGCTTTTGTGTTTGTGTGTTTTGGTTTCAGGTCGTGAGCCAGCGTTTTCCTCAGAACAGCATTGGAGCTGTAGGCAGTGCCATGTTCTTG[C/T]GATTCGTGAATCCAGCTATAGTCTCTCCATACGAGGCTGGGATTCTTGACAAAAAACCTCAGCCTAGGATAGAAAGAGGCCTAAAACTCATGTCCAAGGTGTGAATTTTTGTCTGCGCAGAGCTACTAGCATACATTTCAGATATTGTCTTCATGTAAAATATAATATTGGCCTATATTTAGTAGTGCTCAACATATCTGTTTTATAATCAAAGTTTTAATCTGCTGTTTATTTATTATTGTGATCAGTATTATTTTTTTAATAGAAAGGCACATAATTTAGGGCACATAATGTAATAAACAGCATTTTAAAGTCGGTAAAACGGCTGAAAACATCCTAAATAGTCTTTTTTTTCCTGTGGTTTAAATGTATCTCCCTTGACCTTTGAACTTAAGTACCCCCGTTTTAGACCATCAAATCAAGATCAGACACTACAGGATTGACTTCAATTATTGAATTTCTCACCCCTCTGCAGATTCTCCAAAGTATTGCCAACCATG
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa21786
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:
T > A
Consequence:
Nonsense
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000021631 Nonsense 2727 2759 57 57
ENSDART00000131897 None None 636 57 57
Genomic Location (Zv9):
Chromosome 10 (position 38727704)
Other Location(s):
Assembly Chromosome Position
GRCz10 10 37450719
GRCz11 10 37394477
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
TGGAACAGGAATGGATAAAGAGAAAGTGGATCTATCCCCCACCACGGGTT[T/A]GGCAGCCGGCGGACGCACACGCCACGGCTCGGCCAGCCAGGTCCAGAAAC
Long Flanking Sequence:
GTCTCTGACTGACCCACCCGGGCCATTCCATAAACAATAGTAATGATTGAAGCAAAGGTTTTCACTGTGGGGACATGTCTTTATAAGTACAATTTGTCTGATATGTGTGTCCCCTTTAAAAAATGCTCATGAGAAATTTTTTGTTTATTGTCCACTCTAATGTTAAATGACATTTACGCTCATGCTTTAAGCTAGGGGTCATCAAACTTGTTCCTGAAAGGCCGGTGTCCTGCAGATTTTTGCTCCAACCCTAATCAAACACACCTGAATGAGCTAATCAAGGTCTTACTAGGTATACTTGAAACACCCGGTCAGGTGTGTCGAGGCAAGTTGGTGCAAAACCCTGCAGGGACACCGGCCCTCCAGGACTAAGATTGGTGACCCCTGCTTTAAGCAATTGATGTGATTTGTCTAATCATGCAAATGTCTTTTTTTGTTGTTGTTGTTGCTTGGAACAGGAATGGATAAAGAGAAAGTGGATCTATCCCCCACCACGGGTT[T/A]GGCAGCCGGCGGACGCACACGCCACGGCTCGGCCAGCCAGGTCCAGAAACAGCGCAGCACCGGCAGCTTTAAGAGACCTAGCATTAAAAAGATTGTATGAGAACTGCAGCACAGCAGGGTTTCGCCTCTGCTGGACCTCTAACATACATTCTGCTGCCTTTTCTGCGGCTTCTCTTCACTCCCGCTAAACCCAGCATTTACGATAATCTTTAGGTTCTGCTGTTCGGGATCCAAATGAAAACCTCTGTTTTTAAAACCAGCCACTGTTTAACACGGATGGGAGGACGTCCAGTATTTTTAGTTATATTTGTGCATAATAGAACTGAATAGTATATTGTTTTTTAAAAGCACTACATTCTTTCTTACTTTTAATACGTGGAAGTATTAACCAAGTGCCATTCCTTTGTTGCATTTATTTGGTTTGATTTATGAGACGCTTAAAAGAAATGTACAATCGTTCATGAACAACTACAAAAACGTACACTTTGGATTTTATAGTA
Associated Phenotype:
Not determined