Busch Lab

ZMP

nsfb

Ensembl ID:
ENSDARG00000038991
ZFIN ID:
ZDB-GENE-050808-1
Description:
N-ethylmaleimide-sensitive factor b [Source:RefSeq peptide;Acc:NP_001019625]
Human Orthologue:
NSF
Human Description:
N-ethylmaleimide-sensitive factor [Source:HGNC Symbol;Acc:8016]
Mouse Orthologue:
Nsf
Mouse Description:
N-ethylmaleimide sensitive fusion protein Gene [Source:MGI Symbol;Acc:MGI:104560]

Alleles

There are 4 alleles of this gene:

Allele Name Consequence Status Availability
sa22087 Nonsense Available for shipment Available now
sa10323 Nonsense Available for shipment Available now
sa42023 Essential Splice Site Mutation detected in F1 DNA Not yet available
sa42022 Essential Splice Site Mutation detected in F1 DNA Not yet available

Mutation Details

Allele Name:
sa22087
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:
C > T
Consequence:
Nonsense
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000056919 Nonsense 247 747 8 21
Genomic Location (Zv9):
Chromosome 12 (position 23701619)
Other Location(s):
Assembly Chromosome Position
GRCz10 12 22224781
GRCz11 12 22346000
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
TCTTCCGTCGGGCTTTTGCTTCACGAGTCTTTCCTCCAGACATAGTAGAA[C/T]AAATGGGTGAGTCTTTGATTTTGACTGGCTGTATCACTTTAAAAACCTTT
Long Flanking Sequence:
TAAAATAACAGGCAATAAAAACAGATTGCAAAAAAAAAAAATATATATATATATATATATATATAAGGTATGTAATAGATTAATTCAAAATAATTCATCTGTTAACTTTTATTTCTGTCCTGTGGCTAGTTTTGTCCAGTGGTTTACTTGAAACGTTAACAGGTTTCAAATAGTGTAACAACCAAACTGCACCACTAGATGGCAGTCAAAACACATGTGTTTTTACCCACACCTGCTGTACCTCATGGTACTGTTACTCTACATGTTTTACATGTCAATTCATTTTACATATGGAGAAGTTAATTATATTAACTTGCATCTTAGCATTTGTTTTTGCAAATTATTCCACAGGAAAAGCAAAAACCAAAGGCTCTCGTCAGTCTATAATCAACCCAGACTGGAACTTTGAGCGCATGGGCATCGGGGGCCTGGACAAGGAATTCTCAGATATCTTCCGTCGGGCTTTTGCTTCACGAGTCTTTCCTCCAGACATAGTAGAA[C/T]AAATGGGTGAGTCTTTGATTTTGACTGGCTGTATCACTTTAAAAACCTTTATAAGGAATCACTTTGTGTACCAGGTAAATCAGGTCACATCAGTGTCACTAGTGGTAAAAAAGTTTAGTAAAGGTGCATTTGCCCGTATTTTTGATTTTCTTCCTCTGCATCTCTTTCTGTTTAAGTTTACAGAAGCACAACATGATATGGCCGACTTGAATCACAAAATGTTGTGACTCTAGTTGAAGAAAAAATGAAAAAGCCAAGTGAAATAAGATGGCTATAAGAATAGACATACAGCGCTCAGACCTTCCCAGCACTTGATCCTTACCAGAAATGAAAATTGCTTAAAGTTATACTCGATCCTGACAGAACATCCGCATGTTGTCTTCACTTTTGCTGTTGGCGTACAGTCAAAAGCCTAGTTTGAATTATATTGTCAGACTGCAATCTGATTGTATATTTATGATTTATGTTCACCCTCTAAACAGATCAACAATTGTTAAAGA
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa10323
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 > A
Consequence:
Nonsense
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000056919 Nonsense 294 747 9 21
Genomic Location (Zv9):
Chromosome 12 (position 23695181)
Other Location(s):
Assembly Chromosome Position
GRCz10 12 22218343
GRCz11 12 22339562
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
AACGCCAGAGAGCCAAAAGTGGTCAAMGGGCCAGAGATTYTGAACAAATA[C/A]GTGGGAGAATCGGAGGCCAACATCAGAAAGCTATTCGCTGATGCTGAGGA
Long Flanking Sequence:
GGAATTTTCAGCCATCGAAAAATTATCGGACGAAAGGTTTATGCAATTTAATGGACCCTCTAATTTTTGTATCTTCAGTCATTGTTGGCATACTCTCTTAAATCTGGAAGCATTTATAGCGAAATATATATTGTTATAGTTCAATATGGAAAATAGTTATCGAGATTGCATTTTTGCCATATCACCCAGCGCTAATGGAAACATTTGTAAATACCAAAAGTACTTTAAAACTATATTATAACAAAATGAATACCATTGTGACACTTTTTTTTTTCTTTTTCTTTTTGCGAGCGCCCTTTATATTCAACTATATTATTCTGTGATCATGCTTCAGCATTCCTCAACCCCTTTTCTCTTTCCTTAGGTTGCAAGCACGTGAAGGGAATCTTGCTGTATGGACCACCCGGCTGTGGTAAAACCCTAATGGCACGGCAGATTGGAAAGATGCTGAACGCCAGAGAGCCAAAAGTGGTCAACGGGCCAGAGATTTTGAACAAATA[C/A]GTGGGAGAATCGGAGGCCAACATCAGAAAGCTATTCGCTGATGCTGAGGAGGAACAGAAGAGGGTACGAAACCAGAGATGGCATTTTGTGCAAATTATTCAACACATTGCACGCTTGGGGAAAAAACTTGTGTTGTTTCCATGCATTCACAGACTTTTTTGCACAACCTTACATTCATCTGGCTCTGTGACGGAACCCGCCGATATTTGACACGTTAAAGAAAGGTTCCTCTGTCAACAGTCAAAAAATAAAAACTTTTTTGGGGTTTGCACAAAGGATGCTGTTCCCAGTTTTGGGTGCTCCAGCTGCTCTACAAATAACTCCAAATTGCTGAAATATACTTACCGAATTACTGTAAATGGCCTTGTGTTTGCTTAGAAACATTATCATAGTTTGTTTTTTCCAAGAGTGATGTGCTGGCAGAGATCTGCTGGTTCTGGCTGTGTTGCGAGTGTGATGTTGTGCTGGTAGACTGTGTGACTACATGACATTGAAGAGAT
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa42023
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
ENSDART00000056919 Essential Splice Site 315 747 9 21
Genomic Location (Zv9):
Chromosome 12 (position 23695116)
Other Location(s):
Assembly Chromosome Position
GRCz10 12 22218278
GRCz11 12 22339497
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
GGCCAACATCAGAAAGCTATTCGCTGATGCTGAGGAGGAACAGAAGAGGG[T/C]ACGAAACCAGAGATGGCATTTTGTGCAAATTATTCAACACATTGCACGCT
Long Flanking Sequence:
TTTGTATCTTCAGTCATTGTTGGCATACTCTCTTAAATCTGGAAGCATTTATAGCGAAATATATATTGTTATAGTTCAATATGGAAAATAGTTATCGAGATTGCATTTTTGCCATATCACCCAGCGCTAATGGAAACATTTGTAAATACCAAAAGTACTTTAAAACTATATTATAACAAAATGAATACCATTGTGACACTTTTTTTTTTCTTTTTCTTTTTGCGAGCGCCCTTTATATTCAACTATATTATTCTGTGATCATGCTTCAGCATTCCTCAACCCCTTTTCTCTTTCCTTAGGTTGCAAGCACGTGAAGGGAATCTTGCTGTATGGACCACCCGGCTGTGGTAAAACCCTAATGGCACGGCAGATTGGAAAGATGCTGAACGCCAGAGAGCCAAAAGTGGTCAACGGGCCAGAGATTTTGAACAAATACGTGGGAGAATCGGAGGCCAACATCAGAAAGCTATTCGCTGATGCTGAGGAGGAACAGAAGAGGG[T/C]ACGAAACCAGAGATGGCATTTTGTGCAAATTATTCAACACATTGCACGCTTGGGGAAAAAACTTGTGTTGTTTCCATGCATTCACAGACTTTTTTGCACAACCTTACATTCATCTGGCTCTGTGACGGAACCCGCCGATATTTGACACGTTAAAGAAAGGTTCCTCTGTCAACAGTCAAAAAATAAAAACTTTTTTGGGGTTTGCACAAAGGATGCTGTTCCCAGTTTTGGGTGCTCCAGCTGCTCTACAAATAACTCCAAATTGCTGAAATATACTTACCGAATTACTGTAAATGGCCTTGTGTTTGCTTAGAAACATTATCATAGTTTGTTTTTTCCAAGAGTGATGTGCTGGCAGAGATCTGCTGGTTCTGGCTGTGTTGCGAGTGTGATGTTGTGCTGGTAGACTGTGTGACTACATGACATTGAAGAGATCACTCGGCACCTCTTAATGAGAGCATTCGGCTATCTGTAACCCCTCACCCTGACTCACGGGAGGC
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa42022
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:
G > A
Consequence:
Essential Splice Site
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000056919 Essential Splice Site 542 747 14 21
Genomic Location (Zv9):
Chromosome 12 (position 23688378)
Other Location(s):
Assembly Chromosome Position
GRCz10 12 22211540
GRCz11 12 22332759
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
GCAGACCAAGAACAGTGAACGCACACCCCTAGTTACTGTTCTATTAGAGG[G/A]CAAGTCTTATACAAACAAACACAAATACAGTGTTAGCTAACTGAAACTAA
Long Flanking Sequence:
TCATCTTGTGAAATTATGTTCATATTGTGCAGTTCGTCCAAACCACCTGATTAGATTTGATGCAGACATACTTCATTACTGGCATCAAATCTGGTCCACTTTGCTGTTTTTTTTGTTCACAAACCACACATTTACACATGAGGTGGCTATTATTTTACATTCATCATGTAAATGAATTATTTTGTGAATTCTACACTTTTGAATGAGTCACTTGAGACTGAAACTAAAAAATGTTGTCAAAGTATTATGATATGTCATTATTCTTAATTTCAGCAGTAAATAAAGTGATTAATCATTGTTTAATGATTTAATCATTTCTTTCTGTTTTTATCCCCCTGTTAAGGCATTTGGTAGTAATCAGGAGGATTACTCCAGTTACATCATGAACGGTATTGTGAAATGGAGCAATGCTGTGTCTGACATACTGGGAGACGGAGAACTTCTGGTGCAGCAGACCAAGAACAGTGAACGCACACCCCTAGTTACTGTTCTATTAGAGG[G/A]CAAGTCTTATACAAACAAACACAAATACAGTGTTAGCTAACTGAAACTAACTAACTAAAATCAACCAACTAACTGAAATAGTGATGTTGCTAATCAATGGCAGGTGTTTTGTGTTGTGTTTTCATGTTTTGTGTGTGAAATCCTTTTTCCTTAAACCTAGAAATACTTGATTTAACTTAAGGACTGGTCTAGACATTGAATTGAGTACAGATGCCTGTGTGGTTTATTGCTTGGTTAATTATTCGGATGAATTGTTTGCTAAATCGGAGGTTTTTTTGCTGAAGTTGAGGTCAGTTTTGAACAAAATAATTGTGCTGCCAAAGTTTTTAAAATTGATGTCAATATATTTAAACAAAATAATAATAATTAAATAAAATAATTAAATAAATATTATCATGAGGTAATATTGCTATTGTGATGACACTGTTTAACTATAAAAAAATAATGAAAGGGTTATTTAGTAAGAATTTAAATATTTATTTGCTTAACCAATTAATTAA
Associated Phenotype:
Not determined