ZMP
nae1
Ensembl ID:
ZFIN ID:
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.
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.
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