Busch Lab

ZMP

LOC559590

Ensembl ID:
ENSDARG00000056910
Human Orthologue:
NFASC
Human Description:
neurofascin [Source:HGNC Symbol;Acc:29866]
Mouse Orthologue:
Nfasc
Mouse Description:
neurofascin Gene [Source:MGI Symbol;Acc:MGI:104753]

Alleles

There are 3 alleles of this gene:

Allele Name Consequence Status Availability
sa11230 Essential Splice Site Available for shipment Available now
sa43940 Nonsense Mutation detected in F1 DNA Not yet available

Mutation Details

Allele Name:
sa11230
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:
A > C
Consequence:
Essential Splice Site
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000079487 Essential Splice Site 62 1166 3 26
Genomic Location (Zv9):
Chromosome 23 (position 18072089)
Other Location(s):
Assembly Chromosome Position
GRCz10 23 17975028
GRCz11 23 17901371
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
TTGAATAATTWAAAAAAATGCTGAYGATCATATGATCACACCCTGTACGT[A/C]GCTTCACATGGACGCGTAATGGAGTTTACCTGAACGTGGCAYGGGATCCT
Long Flanking Sequence:
TTTCTTCCTTTATGACCTTTGCTTTCCCATGATTTTCCTTAGTTTGTTTGGGTTATTCACCTTTTTCTACATGCGTCTTCTGCATTTCAAATTATAGATTGCCATTTCAGTTTAAAGAACTTCCAGTCAAAAGCACTGTGTTTTGCATCATACTGCTGCAGAAAGACTTGTTTGAATTTTTGGGGTTATTCAAGGTCTTCTGAAAGTCATTTGTAAAGTTTATTAAAATGCCTTTTTGACATTCGATGGATGATAATAAAGTGAGTTGAAGATAATAAAGTCAGATCATTCTAGCCAGTATTCATTTATTTAGTTTTTTAAATTGTTTACCATGTAACAGAAGCTACTTCCATAATTCACATAAAGTATAATGGGACGTACTGTAGAGAAAGGTGGATAATATTGTGCTGATGTATTGATTGATGATGCTGTAAAATGTATTGGTTAAATTTGAATAATTTAAAAAAATGCTGATGATCATATGATCACACCCTGTACGT[A/C]GCTTCACATGGACGCGTAATGGAGTTTACCTGAACGTGGCACGGGATCCTCAGGTCAGCATGAGGTGGCGTTCGGGCACATTAGAGATTTTCTTCTGGGGACGTCCTGACGATTATGAGGGCATCTATCAGTGCACGGCCACCAATGAGTTTGGCACTGCTCTCTCCAGTTACATCAATCTGCGTGTCTCCAGTAAGCCATAACCTATATGTTTGTGAATACACAACAATTGAGTTTAGTGTATTGATGTTTGAATCTATTTGCTTTAATCAGAGGCCCGAACATGGTTGAAGGAGTATCTGGAGCCAGTCACAGTAGTAGTTGGACTTCCTCTCATCCTTCCCTGCAATCCACCTGAAGGCCCTCCTAAACCAGACACTTACTGGCTGAACAGTAGTAAGTATAAGAGATTTAGATAAAGTGGTCTGAAGTTAGTCAGAGTTGGTTTTAAGCTGTGCAATGTAGATGTGCAGTAATGGTTTGGGATCAGTCATTTTATT
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa43940
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
ENSDART00000079487 Nonsense 272 1166 7 26
Genomic Location (Zv9):
Chromosome 23 (position 18076505)
Other Location(s):
Assembly Chromosome Position
GRCz10 23 17979444
GRCz11 23 17905787
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
TCTCTTTTTCTTTGTAGTCCAACTCCCTCCATCAAATGGACTAAAGATTA[T/A]GAAGAGATGACTATGACAGGGAAGAAGCTGGAGAATTTTAATAAGACGCT
Long Flanking Sequence:
GCAAAACAAAAAACTGCAATGTCAGGATATTTTTCCATTATCGTACAGCCCTAATATATGAAATATTTGTACATATATGTATATATTTATAATTCCATATGGCCATTTTGGAACTGTTTGAAATATATGTTTCATATAGACCATTTTGATGGCTGTAAACAATAACAATGGTCCTTACGTATTTCCTGTTTTACATTTTGAATTTCTATAGCTTCCAAGAATGCAAACAGGTCCACATATTCGTAAATAATGTTATGATAGCTGCTTTAACATGAAGGTATGATTAAATTGCCCCTTATTACAGTTATGAAATAGTTTGACAAAAAGCAGGAAATGTTCATGGACCCATGATTCTTATTTTAAGTGTGTGAAATCCAAACATGAATTTGTCATATGTTATTTGCTTGTATTGCCCTATATCAAAGTTCTACACGGATTTAGGTCTGATTCTCTCTTTTTCTTTGTAGTCCAACTCCCTCCATCAAATGGACTAAAGATTA[T/A]GAAGAGATGACTATGACAGGGAAGAAGCTGGAGAATTTTAATAAGACGCTTAGAATAAAGAAGATCGCAATGGATGATGGAGGAGACTATATCTGCACCGCTTCTAACAGGATGGGCAGCCTGGACCACATCATCACTGTCAGGGTCAAATGTAGAATACTTCATTATTTTTATTACTGTTGTTTGTCACTAGTGGATTCACACAAAAACACACCTTCTGTAATTTGCTCATTTTCATGTTCCAAAGCAAATTATTATCTTGAATACAAACTGTAATGTTCACGCACAGGATTGCACTATATTTATCATCTATAATAATATGGTAGTTGTATATTTTAAAATTATATGTGAGCAAAGAAACAAACACGATAAGAGCCCAAAAGCACACACTGTGATGAAGCCTATTATAATTCAGTAAGAATAAATCTAAAGTTCACTTTATGAATAATAATAAAAAAAAATCCTCTATGCATATTTTATTATATATGAATAATATTTCA
Associated Phenotype:
Not determined