ZMP
numbl
Ensembl ID:
ZFIN ID:
Description:
numb homolog [Source:RefSeq peptide;Acc:NP_001012375]
Human Orthologue:
NUMBL
Human Description:
numb homolog (Drosophila)-like [Source:HGNC Symbol;Acc:8061]
Mouse Orthologue:
Numbl
Mouse Description:
numb-like Gene [Source:MGI Symbol;Acc:MGI:894702]
Alleles
There are 2 alleles of this gene:
| Allele Name | Consequence | Status | Availability |
|---|---|---|---|
| sa13223 | Essential Splice Site | Available for shipment | Available now |
| sa42504 | Nonsense | Mutation detected in F1 DNA | Not yet available |
Mutation Details
Allele Name:
sa13223
Status:
Available for shipment
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:
Mutation:
T > G
Consequence:
Essential Splice Site
Transcripts:
| Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
|---|---|---|---|---|---|
| ENSDART00000039454 | Essential Splice Site | 67 | 618 | 3 | 9 |
| ENSDART00000121845 | Essential Splice Site | 89 | 640 | 3 | 9 |
Genomic Location (Zv9):
Chromosome 15 (position 13740374)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 15 | 14521337 |
| GRCz11 | 15 | 14457294 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
ATCCAGAGGSATGCATGTGTGTGAAGAGGCAGTRAAAAAGCTRAAAGTGG[T/G]GAGTATCGGATCCTCACAKTATAAAACATACGCTTGCTGTAAAAAGCAGA
Long Flanking Sequence:
AAGTGACAAGCCCAAAAACGGCGTGTTTTTCTCACTCCCAAATAGAGGCACATTTAACAAGCTCTAAAAAAGATATGTGGAGTATTTCGAACTAAAAATTCCCTCGCATTGTTTCAGACGCATTCTAGGCACACCAGAGATGTATTTCACATCTTATGAAAAAGGCATGATATGTCCCCTCTAATAGAATCCTCATTGAAATCCAGACTAGTGCTGTTTGTGCCAAGACAGATTTCCCTAAAGAAAAAAAAAAAGTGTTTCTGTCATTTCTGTATGTTCTTGTCAAAATAATAGCCTCAGCAAAAATAACGCAGAAGAGTGCTTCCTTTTCTGTTCAGGGAGCTAATAGTGTGGTAGGTGTAGAGCATGAGATATAGATAGTGTGTGTTTCGTCATGCTGATCTCTTGTGTTGTGTGTGTGCAGTATCTCGGGCTGGTGGAGGTGGATGAATCCAGAGGCATGCATGTGTGTGAAGAGGCAGTGAAAAAGCTAAAAGTGG[T/G]GAGTATCGGATCCTCACATTATAAAACATACGCTTGCTGTAAAAAGCAGACTGGCAGCAAATGAGCCAAAGCCCATTTTTGGACGTACAGTCAATTTTCTGAAGCAATAGAAACATTTTATGATTGTTATGCACATTTGTGTAATCAGCAGTAAATGGGGCTTTCAAAAACAAGATGGAGCTGCATTTACACATAGCCATAGTTATATATTATAGTTATTTATATTATAGTTATATTATTATGTAATGTTATTTAATTAATATCACATTCATTACATTAATTTCTGTGATCATCTCTGTGAAAATATCACTTTGAATAAGATGTTTTACCTTACTTTAACATCAGTCAAGTGTTTGAAATAAATACTTCTGTAAGATTAAGCTGTATTCATGTGAATAAATGTCATGCTGAATCAATAAATGTAGTTAAATCTTCTGTTTATTCAGCAACTGCTATGGGGATTTTCTGGGTTTTTCCTTTTTCGTGGTGTATTTCGAAGT
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa42504
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 |
|---|---|---|---|---|---|
| ENSDART00000039454 | Nonsense | 191 | 618 | 6 | 9 |
| ENSDART00000121845 | Nonsense | 213 | 640 | 6 | 9 |
Genomic Location (Zv9):
Chromosome 15 (position 13754120)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 15 | 14507591 |
| GRCz11 | 15 | 14443548 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
GCAGAACATCATTTGTGAGGGAAGGTTCATTCCGCGTGTCCTCCGCCGCA[C/T]AACAGAGTGACCGTGAGGACATCATGAAGCAGATTCAAGACAAGAAGAAA
Long Flanking Sequence:
CCACAAACGTAAATTACCTATCCTTTAAATGAAAACATAAATACAGTGAAGAAAAGTATTTCATCCCAAAAATTTCTAAAATTGTTTTATGTTTAATCAACTTAAAATTTTAAAAACTATTAAGTTAACTTAATTAATTTGCCTTGGGACAACATGAAGGGAATGTGTGAAACCCAATATATATTACAGTTATAGTGTATATTTACAGTTATTGTGTATATTTACCCAGTATGTATTACATATACAGTGTATACTTAACTCAACACAAATTATTAATGTTTACATTTTTATTTGGAGCATATTGTATTGTGATGATGCTAATGTGAGTTGATTGTCCTGATGGTCAGGGCGAGCGTCTCAGTCATGCAGTGGGATGTGCGTTTGCCGCCTGCCTGGAGCGGAAGCAGCGCAGAGAAAAGGAGTGTGGCGTCACAGCCTCTTTCGATGCCAGCAGAACATCATTTGTGAGGGAAGGTTCATTCCGCGTGTCCTCCGCCGCA[C/T]AACAGAGTGACCGTGAGGACATCATGAAGCAGATTCAAGACAAGAAGAAAGGTCAGTCCAACTCACAAACACAATGCTTACTGGGAGGAATGACTAAACTAGTAAAACTGAAACCAGAGTCTATCATAAATCAAAATAAAAATACAAATTTCAGAACATTTGAAACATTTCAGAACATTTGAGCCCCGCTTACTATTACAGAAGCCAATCATTGATTGCTATAAAGTGATGATTCTCCAGGGGAGGGGCTCAGAACACCTGTGAGTTTCTGCAAATGTTGTGGGATTCTAGCGTTTAGAAATGAAACTAAAGAGACAGTTGTTGTTTAATTTTATTGGCGATTCCTAATTTGTAATTTAATTGTAAGCTTGGCAAGCTATTTCGTAGAATTAAATAGTTTCCCTATTCAAACAGTATCTTAAAGCATACTGCCCAAGAGGTGCTTCAGAGATGGCTGCCAGGTGAAACTTGCCCTAATCCTTTTATGCATACGATCACAC
Associated Phenotype:
Not determined