Busch Lab

ZMP

si:ch211-222n4.10

Ensembl ID:
ENSDARG00000057568
ZFIN ID:
ZDB-GENE-091117-1
Mouse Orthologue:
Nefl
Mouse Description:
neurofilament, light polypeptide Gene [Source:MGI Symbol;Acc:MGI:97313]

Alleles

There are 2 alleles of this gene:

Allele Name Consequence Status Availability
sa12368 Nonsense Available for shipment Available now
sa45733 Essential Splice Site Mutation detected in F1 DNA Not yet available

Mutation Details

Allele Name:
sa12368
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
ENSDART00000080263 Nonsense 274 475 2 6
ENSDART00000128381 None 359 551 2 5
ENSDART00000136196 None 359 616 2 4
Genomic Location (Zv9):
Chromosome 21 (position 17824429)
Other Location(s):
Assembly Chromosome Position
GRCz10 21 18972681
GRCz11 21 19009317
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
ACATCCATCCTTCTCCRCAGGATACAATCAGTGAYCTTGAGGAWGAACTT[C/T]GAGCCACTAAGGGCGAAATGGCCAGATAYCTTAAAGAGTATCAGGATCTT
Long Flanking Sequence:
ATGAGCTGACATTCCTGAAGAAAGTCCACGAGGGTGAGATATCAGAGCTGCAGGCCCAAATTCAATATGGAGCTCAGATCGCTGTTGAAGCAGAGGCCGCCAAGCCTGATCTGTCCAGCGCCTTACGTGACATCAGAGCTCAATATGAGAAGTTGGCTGCTAAGAACATCCAGTCAGCTGAAGAATGGTTCAGAGGAAAGATGGGTCACCTGACGGAAAGTGTAGCCCATCACACTGATGCAGTAAGGAACTCCAAAGATGAAGCGGGAGAATATCGGCGTCAACTTCAAGCTTGTGTCCTTGAGATCGATGCCTGCAAGGGCCTGAATGAGTCCCTGGAGAAGCAGCTGAGGGAGGTGGAGGACAAGCAGAGTGCTGAGGTTGCAGCCATGCAGGTTAGTACTACTGCCAACTATTTTACCTATTAAATCCCCTCGAATCATCATTCTTACATCCATCCTTCTCCACAGGATACAATCAGTGACCTTGAGGATGAACTT[C/T]GAGCCACTAAGGGCGAAATGGCCAGATATCTTAAAGAGTATCAGGATCTTCTCAATGTCAAGATGGCCCTTGATATTGAAATAGCTGCTTATAGGTGAGATCACAAATATAACCACAGGCATTCAGATTTATGTTAGTGCTTCTAAGGCAAATCTTTCCCCCTTATTATTACAGGAAGTTGCTTGAGGGGGAGGAATCTCGCTTCAGTGTGGGAGTTGGAGGTTTGGTTGGTGCTTATTCTGTTGGACCGGTCTACTCCCGTCCCATGTTCTCCCTGTCCAGCATGAGCTCTGGCACCCCCTACCTGCTCAGCTCTCGTCTAGTCAGTTCATCCTTCTCAGCAGATGAGGCCATCACATCCAGTCAAGCTCAAGAAGCTGCTGCCAGTCCAACACAGGAAGAAGAAGAGGAGGAGGAGGAAGCAAAGGAAGAGGAAGAGGAAGAAAAGGAAGAAGAGGAAGCTGAAGAAAAAGAAGAAGAGGAAGAAAAGGAGGAAGAGG
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa45733
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:
A > G
Consequence:
Essential Splice Site
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000080263 Essential Splice Site 317 475 None 6
ENSDART00000128381 None 439 551 3 5
ENSDART00000136196 None 439 616 3 4
Genomic Location (Zv9):
Chromosome 21 (position 17824751)
Other Location(s):
Assembly Chromosome Position
GRCz10 21 18973003
GRCz11 21 19009639
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
TCCCTGTCCAGCATGAGCTCTGGCACCCCCTACCTGCTCAGCTCTCGTCT[A/G]GTCAGTTCATCCTTCTCAGCAGATGAGGCCATCACATCCAGTCAAGCTCA
Long Flanking Sequence:
CCTGAATGAGTCCCTGGAGAAGCAGCTGAGGGAGGTGGAGGACAAGCAGAGTGCTGAGGTTGCAGCCATGCAGGTTAGTACTACTGCCAACTATTTTACCTATTAAATCCCCTCGAATCATCATTCTTACATCCATCCTTCTCCACAGGATACAATCAGTGACCTTGAGGATGAACTTCGAGCCACTAAGGGCGAAATGGCCAGATATCTTAAAGAGTATCAGGATCTTCTCAATGTCAAGATGGCCCTTGATATTGAAATAGCTGCTTATAGGTGAGATCACAAATATAACCACAGGCATTCAGATTTATGTTAGTGCTTCTAAGGCAAATCTTTCCCCCTTATTATTACAGGAAGTTGCTTGAGGGGGAGGAATCTCGCTTCAGTGTGGGAGTTGGAGGTTTGGTTGGTGCTTATTCTGTTGGACCGGTCTACTCCCGTCCCATGTTCTCCCTGTCCAGCATGAGCTCTGGCACCCCCTACCTGCTCAGCTCTCGTCT[A/G]GTCAGTTCATCCTTCTCAGCAGATGAGGCCATCACATCCAGTCAAGCTCAAGAAGCTGCTGCCAGTCCAACACAGGAAGAAGAAGAGGAGGAGGAGGAAGCAAAGGAAGAGGAAGAGGAAGAAAAGGAAGAAGAGGAAGCTGAAGAAAAAGAAGAAGAGGAAGAAAAGGAGGAAGAGGAAGAAAAGGACCAAGAAGAAGAAGAAACAAAGGAGGAAGAAGAAGGTAAGATTTGTATGCTACTGTAATTTGGTATGTGTTATTTGAAGTATAAACAAGAACTGCATCACTAATTGTTGTTTTTAACAGGTGCCGAAGAGGAAGCTGGAGCTGAAGAAGAAGAAGAAAAAGGAGATGAGGGGGAGACTCAAGAAAAGGAAGATGTTAAAGGGGAAGATGAGGAAGGAGGAGATGAAAAAGAGGGAGATGAGGAAGAGGGTGAGCAGAAAGAGGGAGAAGAGGAAGAAGAGGGAGAGAAAGCTGATGAGGAGGAAGTGGCCGC
Associated Phenotype:
Not determined