Busch Lab

ZMP

nae1

Ensembl ID:
ENSDARG00000011301
ZFIN ID:
ZDB-GENE-040426-1552
Description:
NEDD8-activating enzyme E1 regulatory subunit [Source:UniProtKB/Swiss-Prot;Acc:Q7SXP2]
Human Orthologue:
NAE1
Human Description:
NEDD8 activating enzyme E1 subunit 1 [Source:HGNC Symbol;Acc:621]
Mouse Orthologue:
Nae1
Mouse Description:
NEDD8 activating enzyme E1 subunit 1 Gene [Source:MGI Symbol;Acc:MGI:2384561]

Alleles

There are 3 alleles of this gene:

Allele Name Consequence Status Availability
sa34155 Essential Splice Site Mutation detected in F1 DNA Not yet available
sa40985 Nonsense Mutation detected in F1 DNA Not yet available

Mutation Details

Allele Name:
sa34155
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:
Essential Splice Site
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000019270 Essential Splice Site 72 533 3 20
Genomic Location (Zv9):
Chromosome 7 (position 45780022)
Other Location(s):
Assembly Chromosome Position
GRCz10 7 44452850
GRCz11 7 44792075
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
TTACCATTGTAGACGGGCACAAAGTTTCAGGGGAGGATGTTGGAAACAAG[T/A]AAATGTGTTGGCGTGATGATGTATATCTTTTTTGGAAATATAATATGATA
Long Flanking Sequence:
AATCACATGCAAGTATGACTTGAAAACAACATTAGCACATTTTATTTGACTGTGAACAATGTTGAAATTTAATATTCATTGGCTGCTAGTATAATTTCACTATTTAGAGTTTGCAAAGATTACTTTTGTGAAATGATATTATTAAGGAGAGTGTGTGAGTTTGAATATAAAACCAACTTTATCTCAATGTGGTTATTGACTGGTCATTGAGTGATTGAGATGTGTTTGTATCAGGTTGTGGGGAGATCATGGACAGGAAGCACTTGAAAATGCCCATGTGTGTCTCATCAATGCCACTGCATCTGGCACTGAAATCCTCAAGAACCTTGTGCTGCCCGGTACTGTATATATCTCACTGTACACCTCAAATCCTGGCACTGAGACGTGAATCATATTGGTTATTGTGCTAATGTTATATGTTCACTCCTCCTTTTTTAGGAATCGGAGCCTTTACCATTGTAGACGGGCACAAAGTTTCAGGGGAGGATGTTGGAAACAAG[T/A]AAATGTGTTGGCGTGATGATGTATATCTTTTTTGGAAATATAATATGATAAATTGATAATTATGCCTGATTGCATTCTTTAATATTTTCTGCAGCTTTTTTCTCAGCAGCAGTGCTATTGGAAAGGTAAGTATAGAGTAAGTATAGTGTCGATAAAAACTTCCAACTATCCAACCCTAATGTGGCATATGGTAATTGATACTGGGCTTTTTTTTCAGAACAGGGCACAGGCGGCTACGGAATTGCTCCAGGAGCTCAACAGTGATGTTTCTGGAAACTTTGTGGAAGAGGTCAGTTTACATGTCTTCAAAACATATTATACATTTCTATCAGCAAAGTTTTCTATTTAATTAATTACAATACAAACTCAAGTAAACTCGGGTAAATCAAAACAATGCATTTTGGATTTTTTAAGATTGTTAAGACTTATTAGGTGATTGTAGCTTAAAATGAAAATGCTCGTAGTTTTAGAAAATGCCATGCCTTTGAAAGAAATAAGGT
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa40985
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:
C > T
Consequence:
Nonsense
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000019270 Nonsense 437 533 17 20
Genomic Location (Zv9):
Chromosome 7 (position 45768978)
Other Location(s):
Assembly Chromosome Position
GRCz10 7 44441806
GRCz11 7 44781031
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
GTGAGATGGTTCTGTACCTTATGCTCCGCTCAGTCGACCGCTTCTATCAG[C/T]AACACTCCCGCTACCCAGGTCAGAAGTAATCAGAGTAATCAGAACAGACA
Long Flanking Sequence:
TCATGGAATCTGAATTCTTTAATATCCAGATTTGTTTACTGCATTTATGATATTCATGGTTAAACATAAAAAGAGTAATTATTTTTCCAATTTTTGAGCATTGGTAGTTTTCTCCACATCCAGTATTGTAAACCTCTTTGTTTAATACCTGTGTTGTGTGGTGTTTTGTTGTCCCACAGGTAAGAACGCGGCTTTCCTCCGAGTGGTGCGCTGCAGGTCTCTGGCTGACGAGTACAGTGTGGACACTTTTAATAAAGATGAAATCAGTACGTGTTCTTTACGGCCTTGTGGTTTATCTCAGCGTGTAAATGTTATGCTCACTGTTCAGGACTGTTTAGATGGATTTACTAACAGGGAATCTGATGGTTCATTGTTGTGTACATCCATGCTTGGGTGGTGTTAAAGCTGTTGTTTGTGTCTCCATAGCATCCTGTATGGACAGTCCAGACAGTGAGATGGTTCTGTACCTTATGCTCCGCTCAGTCGACCGCTTCTATCAG[C/T]AACACTCCCGCTACCCAGGTCAGAAGTAATCAGAGTAATCAGAACAGACACTTATTGGTCATTACAGATCTCTTAAAGGGTTTCAAGTAATTGTGTTTTCACAGCTATTACTGTTTTTCTGTGTTTCCATTTTTAAACAAGCACATTTAACTGACCACCCCTGAATATTAATGAAAATTATTTCATTATTTTTTGTGTCATTTCAAACCTGTATTGATTTTATTGATTTTTTATTTTTTGCAGAATATTAAAAAAAATCTATATATTTATGGAATGTATAAAAAAAAAGCATTGGTCACACTTTACAATAAAGCTTCTAATCTTACTGCATTTTTTTACAATAATTAATATTGAACAATACTTGTGCAGCATTTATTTATCATAGTTTACGTAAACTACAGAAGAACTTTATTTCCACTATGTTCATTGCTTGTTCATATTAGTAAATACATTAACTAATGCAATCTTATTGTAAAGTGTGACCATAACAGCAGCTGCAA
Associated Phenotype:
Not determined