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
sa27657 Nonsense Mutation detected in F1 DNA Not yet available
sa27658 Nonsense Mutation detected in F1 DNA Not yet available
sa34960 Essential Splice Site Mutation detected in F1 DNA Not yet available
sa16515 Nonsense Available for shipment Available now
sa41713 Nonsense Mutation detected in F1 DNA Not yet available
sa21786 Nonsense Available for shipment Available now

Mutation Details

Allele Name:
sa27657
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 > G
Consequence:
Nonsense
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000021631 Nonsense 377 2759 10 57
ENSDART00000131897 Nonsense 373 636 10 57
Genomic Location (Zv9):
Chromosome 10 (position 38618940)
Other Location(s):
Assembly Chromosome Position
GRCz10 10 37341955
GRCz11 10 37285713
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
AGTTAAGCCGTTTTCCAGAGGCGCAGGAAGTCAGAGTGCAGACCTGGACT[T/G]AATGATCGACTGCTTCGTCTCCTGTTTCAGAATCAACCCACACAACAATC
Long Flanking Sequence:
CAGAGGTGATTTCAAACACTTGGCTGCTGTTATGAAACTAATTTAATTAAAAGTATGCCTGTAACTGTATCTGTTTGTAATCAGGCTCAAGCACAAATCTGTATGGGACATTTTTGATTTTAGTTGAAATATAAAGCCCAGATCAACCAGTTCCAAGTTTATCTTCATCACAGGGAGACTAATTTTGATTATGAAGCAAATTTTTAACAGTATCTGACAAATTTTATATCAGCTCTTCGGTAGGTAGTTTTTCTGGGTTGTTTTACTCTACAGCAATAAGGAATGATTCATCGATGAGGCACTATGGAGCTGGAAAAGGCTCATATTACCAAAGGAACAAATGCTTTGAGAAACCCAAGCTTCGTGATTCACTGCAGCTTTTGTGTCTGAAGGATTCTGTCTTCCACATTGATGGTTTTCTGTTGGTCTCCAGGGTTTGCTGTTTAACCCAGTTAAGCCGTTTTCCAGAGGCGCAGGAAGTCAGAGTGCAGACCTGGACT[T/G]AATGATCGACTGCTTCGTCTCCTGTTTCAGAATCAACCCACACAACAATCAGCAGTTTAAAGTGGGTGCAAGTCAAACCTTAAACCCAAAATAAATATACGCGGTACACACACTTAAATTGTCAAAACAAATGTTTATTTTGGATGTTATTAATCCCATTGATTTGGATGCAAATTTTGCCAGGCACTAATATATGCATTATTAAATATATTACATAATAATATTTAAAAAATATGTGACGCTTATATGATAACAGCTGACATTTGCTGTGTTTTGCACACTGCTTGACATCAGTGCACTGTATTTTTCAATGTAAGGTTGAATATACTTATATTAGTTATACAATATATTCATAATTACAATTTCTTTCAGATTAATAATTACAACACCTGCAAGGTTGTGTTAGGTTTACACACTGTGCTAAGAACATGAGTTGACCTAAAGAGCGCTTTTACCAGATCTCTCTTGATTTCTATTTGTCTTTGTCAGGTGTGTTTGGC
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa27658
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
ENSDART00000021631 Nonsense 767 2759 20 57
ENSDART00000131897 None None 636 20 57
Genomic Location (Zv9):
Chromosome 10 (position 38629667)
Other Location(s):
Assembly Chromosome Position
GRCz10 10 37352682
GRCz11 10 37296440
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
CAGGAATGGATCAATATGACAGGCTTCTTGTGTGCGTTGGGCGGTGTGTG[T/A]TTGCAGCAGAGGCATGTGTCAGCTCTGGCCACCTACAGTCCTCCTATGGG
Long Flanking Sequence:
TTCAAAAAATCTGAAATATTTGAGAGAAAATAAAAAATGCAATGTTTTAAAGATATAAATATATAAATATAAAAATACACAAATTTATATTTGCGTTCATTGAATATAGAATTTTATTAAAATAACAAAAACATATCGTTTTATATTTAAAATATAAAATACCAAGGATTATACAGTGTGTGTAAATAACATAACTATAAATATATTTATTATTTAAAAAAATTAATGTGAGAAATTTAGATTTTTAAATAAATTATGTCCGTACTTTTTTTTGTTAATATCTGTACTTTGTTTGCTAAACATTTTTGTACAGTTTAATATAATTGTGTTATAGGAATGAGGTGTGTGTATGTAATATAAAATATTAATTTTATTAATATTATAAATAAATAAGAAGAATGTTTAACAGTGAAATATTTACAGGTTTCCAATCTCGCTTGTCTCTTCCCTCAGGAATGGATCAATATGACAGGCTTCTTGTGTGCGTTGGGCGGTGTGTG[T/A]TTGCAGCAGAGGCATGTGTCAGCTCTGGCCACCTACAGTCCTCCTATGGGCACCCTGAATGACCGCAAGGGCTCGATGGTGTCGATGAGCTCTTGTGAGGGCAGCCCAGAGACACCTCTCGGCCGCTTTCTGGACCGTCTTCTGTCCCTGATGGTGTGCAGTCACGAAAAAGGCCATCAGATCCGCACTAATGTCAAAGACCTGGTGGGGCTGGAGCTCAGTCCAGTGCTTTACCCAATGCTCTTCAACAAACTCAAGAACAGCATCAGCAGATTCTTTGATGCCCAGGGGCCGGTGAGACTGTCACTTCCAATTATAGCTGCAGGAATAATTGGTAAAAGATCTCGATTTAAACACCCATGCAATCATAATACTACTTAAAAAAATTATAACACAGTAAATTCAGCCTGAGTTTTTTGGCGCTTAAAATAAAGATTTTATCAGTTACATACCCTTAACAGAGGGAATTGGGGTACAACGGATATGAAGATCCACACTCA
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa34960
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 > C
Consequence:
Essential Splice Site
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000021631 Essential Splice Site 1081 2759 None 57
ENSDART00000131897 Essential Splice Site None 636 None 57
Genomic Location (Zv9):
Chromosome 10 (position 38637345)
Other Location(s):
Assembly Chromosome Position
GRCz10 10 37360360
GRCz11 10 37304118
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
TCCAACCTGCTTAGTGCCAATGTGGACAGCGGCCTGATGCACTCTATCGG[T/C]GGGAGAACCAAAAACTTTTATTTTATTTTATTTTATTTTATTTTGTTTTA
Long Flanking Sequence:
CTAATGACGTTCTAAATAAACAACCTAAAAAGAAAAAGAATTCATAATGGTGAATTCATGACTTTGATTTTGTTAGCGTTATCTGCTTGATTTGCAGTGAGCTCTGTTGTTTTGTGTGGTCAGGGATCTGGATCAGGCGAGTATGGAAGCGGTGGTGTCTCTTCTGGCCGGTTTGCCTCTTCAGCCAGAGGAAGGTGACGGAGTGGAGCTGATGGAGGCCAAATCTCAGCTCTTCCTGAAGTAAAGCTCTCCACATGATCTGTAATGTCTTATATAACCCCATGTGTGCCCTTGATTGAGCCTACTCTCCTGCACAGATACTTCACTCTGTTCATGAACCTGCTGAACGACTGCAGCGAGGTGGAGGACGAGGGTCAGCCGGTGGTCGGGAGGAAGCGAGGCATGTCCAGGCGATTGGCATCATTACGACACTGCACCATCCTGGCCATGTCCAACCTGCTTAGTGCCAATGTGGACAGCGGCCTGATGCACTCTATCGG[T/C]GGGAGAACCAAAAACTTTTATTTTATTTTATTTTATTTTATTTTGTTTTATTTTGTTTTATTTTATTTTATTTTATTTTATTTTATTATTTTATTTTATTTTATTTTATTTTATTTTATTTTACTCATTATGCATATCTGCTGTTCCCAAGGCCTGGGCTATCATAAAGACCTTCAGACCAGAGCCACCTTTATGGAGGTGCTCACCAAGATTCTTCAGCAAGGCACAGAGTTCGACACGCTGGCAGAGACGGCTCTGGCGGACCGCTTCGAGAGGCTGGTGGAGCTCGTCACCATGATGGGGGATCAGGGCGAGTTGCCCATCGCAATGGCTCTGGCCAGTGTGGTGCCCTGTTCACAGTGGGTGAGTACATTAGGGAGATCATACTGTACAGGATTTAATTCAGCTACAGATACTCAAAATACATTCTTCACTATTCTGTTTTGCAATTTCTGTACAGTATTTAAGTCAGCTACATACAGCTGAAGTCACAACTATTC
Associated Phenotype:
Not determined

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:
sa41713
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
ENSDART00000021631 Nonsense 2064 2759 42 57
ENSDART00000131897 None None 636 42 57
Genomic Location (Zv9):
Chromosome 10 (position 38707069)
Other Location(s):
Assembly Chromosome Position
GRCz10 10 37430084
GRCz11 10 37373842
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
TTACTGAAGTGTTTTGTTCTTACCCTGTGCAGAGGAGACCAAGCAGGTGT[T/A]GCGTCTCAGTCTGACCGAGTTCTCCCTGCCGAAGTTCTACCTGCTGTTCG
Long Flanking Sequence:
TTCAGATTTATTTCATTTACCAAATGTTTTACATTTATTTTCATTTACAATAAAGACACTGGTGTTCTCTCATTGACATATAACATGAGTTCTATGGCACCGATCCACAGGTGATCATTCGCATGTGCAAAATCATCGATAAGACGTGTCTGTCGCCCACACCAACACTGGAGCAGCACCTGATGTGGGATGATATCGCCATCCTGGCCCGGTACATGCTCATGCTGTCCTTCAACAACTCTCTGGATGTAGCCGCACACCTGCCGTACCTGTTTCATGTGGTGACCCTGCTGGTGGCCACGGGGCCTCTGTCTCTGCGGGCCTCCACGCATGGCTTGGTCATCAACATCATCCACTCCCTCTGCACATGCTCCCAGCTGAGCTTCAGCGGTAAGCAATCATCTTTGCCCTAGAGAGATATTTTTTTGAGATGGATCAGTGAGTTATTGATTACTGAAGTGTTTTGTTCTTACCCTGTGCAGAGGAGACCAAGCAGGTGT[T/A]GCGTCTCAGTCTGACCGAGTTCTCCCTGCCGAAGTTCTACCTGCTGTTCGGCATCAGCAAGGTCAAGTCGGCTGCGGTCATTGCATTTCGTTCCAGCTACAGGGATCGCTCATTCTCGCCGGGGTCCTATGAGAGAGAGACCTTTGCTCTGTCATCTCTGGAGACGGTCACAGAGGCGCTGCTGGAGATCATGGAGGTATGCTAGACTTCATAATCGGACGCAGTGTGGGAAAGCGACGAGCAATAAATCACATCTCCTTCACCTTGAGGAGACCAATGATGAGGGAAACGCTATTTTTGGCCACTGTTTTTTTGGCCACTTTGGTTTTTGTTTCTTGTCATGCTGGTTGTCTACTGTCGGTCATTGGTCAAAATGCTCATTACATGCGTCACAATAATCAATATATTTGCATATCATGATGCAATATATGTATCACTCTCCATTTTTACGTAAAAAAAAGAATGATGCCAACAGTTTAGCTAATTGTGTTTAATTTTCA
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