ZMP
si:dkey-15g19.1
Ensembl ID:
ZFIN IDs:
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]
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.
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.
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.
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.
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
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.
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.
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
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