ZMP
mbnl1
Ensembl ID:
ZFIN ID:
Description:
muscleblind-like protein 1 isoform 1 [Source:RefSeq peptide;Acc:NP_001070102]
Human Orthologue:
MBNL1
Human Description:
muscleblind-like (Drosophila) [Source:HGNC Symbol;Acc:6923]
Mouse Orthologue:
Mbnl1
Mouse Description:
muscleblind-like 1 (Drosophila) Gene [Source:MGI Symbol;Acc:MGI:1928482]
Alleles
There are 3 alleles of this gene:
| Allele Name | Consequence | Status | Availability |
|---|---|---|---|
| sa5722 | Splice Site, Nonsense | F2 line generated | Not yet available |
| sa45120 | Essential Splice Site | Mutation detected in F1 DNA | Not yet available |
| sa33021 | Essential Splice Site, Splice Site | Mutation detected in F1 DNA | Not yet available |
Mutation Details
Allele Name:
sa5722
Status:
F2 line generated
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:
Splice Site, Nonsense
Transcripts:
| Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
|---|---|---|---|---|---|
| ENSDART00000074924 | None | None | 409 | None | 21 |
| ENSDART00000074929 | None | None | 400 | None | 14 |
| ENSDART00000098061 | Splice Site, Nonsense | 160 | 424 | 4 | 18 |
| ENSDART00000124307 | Splice Site, Nonsense | 160 | 412 | 4 | 17 |
| ENSDART00000126200 | None | None | 118 | None | 3 |
Genomic Location (Zv9):
Chromosome 2 (position 47926190)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 2 | 47948454 |
| GRCz11 | 2 | 47802618 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
GCTGTCACTTTTAAGTCAGCCACCTTTTGTTTTGCAATAAAATACCTGCA[C/T]GTTTCCCATACTGCTATATTTTACTGCTAAATATTTTAAYATTTTTCCAA
Long Flanking Sequence:
CAGATGCAGATCGCCAACGCCATCATGCCCGGCAGTCAGCTTCAGCCCATGGTGAGAAACACACTCGACCCACCCTTTTGGAAACATCAGTGCAGATTAGTATGATAGCAAACATCACACAATTAATGAAACACAGCGGTAAATACAGATAAATGCTAAATTATCAGCGTTCACGTGAAAATATTTCCTAAGTGCTGTTTGACAGATTTGCACAGCAGGGCTCAACAATAAGGACTGTCCGATGGCCCGGGGCCAGTGTGAGAGATGCTCGGGACAGTAGACAGAATCGTTACTGGCCCGATCGGGGCAGTGCTGCCTTGTCACTAAATTTTAATAGACTGCAACATGACCGCAACAAAGGCTAAAGGAAATGTCTGTTTCTAACTTTGTGGAAACATTTAAATGGGTACAGCATGACGAAAAAAATGAAGGTCATGTTTTGCCTAGTTTGCTGTCACTTTTAAGTCAGCCACCTTTTGTTTTGCAATAAAATACCTGCA[C/T]GTTTCCCATACTGCTATATTTTACTGCTAAATATTTTAACATTTTTCCAATATTTAAATTCTTCAATTACTGGCATTATTTTCATTCATTCATTTTCTTTTCGGTTTTGTCCCTTTATTAATCTGGGGTCGCCACAGTGGAATGAACCACCTGACATTATTTCGTGACACATAATTTAATATATGTGGCTAACTTTATTTCTTTCATGGGGCCAGTGAAAATTTTGGCAGGGCAAGTAAAAATCTGAACCACTGGTCCAATCGGGCCAGTAGAAAAAATCCTTAGCGTTGAACCCTGCACAGTATTTACTATTATATTTTTATCTTCAAAAGCAAGTCTTGTTTCTTTCAATTATTTTAGTATAATTATAATAAGTAGAATTTTAATATTTTAAAATGTTTTTAAGGTCAATATTGTTAGCCCCTTGAGAAATCTATACAGTTGAGGGCAGAATTGTTAGCCCTCCTGTGAAATATTTATTCTTTTTCAAATATTTCTCA
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa45120
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:
Essential Splice Site
Transcripts:
| Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
|---|---|---|---|---|---|
| ENSDART00000074924 | Essential Splice Site | 266 | 409 | 16 | 21 |
| ENSDART00000074929 | None | None | 400 | None | 14 |
| ENSDART00000098061 | None | None | 424 | None | 18 |
| ENSDART00000124307 | None | None | 412 | None | 17 |
| ENSDART00000126200 | None | None | 118 | None | 3 |
Genomic Location (Zv9):
Chromosome 2 (position 47931346)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 2 | 47963010 |
| GRCz11 | 2 | 47817174 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
TTCTTTTTTTGTTTTTTCTTTTTAACGTGTTACTTTTGGTCACTTTGTTT[C/T]GTCTGCCAGAAACATTTGAGTAGTGCTTCGCTTGCTTCATTTGCATTGAG
Long Flanking Sequence:
ATATTAATTGTTTATATGTTAATATTAATTTGTAAACACTGTATTGTCCTACAAATATAATCATACAATTGGTTTTGTGGTCCGGGGTAAACAAAGAGATTATGTGCATATAAACAGTTATTAATATTAATCAAGAGAGTAGAATAATCATGGTTGATAATAAGATATGCAAAAGTAAAAGGAAGGTTGTTTGCCAGTTCTGCAATAACCTCAATACACCCACAAATAATGCAACACCTTTTTAAAAGATCATTATTACTATTGTTTGGTAGATTTTGTCCATTTTTGGATAGTTAGTGATTTGGTCTTAATGACATAGATGTCATTTTTTACGACATTTATATTACATGATCTTATGTAGGAGCTACTTGAGATGTGTTTGTGAATACGGGCTCTAGTCTCTTTCTCACACTTATCATGGAGTGAGCAGTGCAGTTTATTTTCCTTTTGTTCTTTTTTTGTTTTTTCTTTTTAACGTGTTACTTTTGGTCACTTTGTTT[C/T]GTCTGCCAGAAACATTTGAGTAGTGCTTCGCTTGCTTCATTTGCATTGAGTTAGCAGTATGGATGTTGTAATGTTAATGACTTTTTTTAATACTCTACTGATGTAAAACTAATGATGTGACGTAATCACAGATGCTGATTTTGTAGCCGTAGCGAGAGGAACTTGGCTCTTTGGCTTTTTGCTTGTGCCGTAGACATGTTTTAGCTGCCGCTTGCTTGCTTGTTTGTCAGAATCCAGCCCTGTGATGTTTTTTGCCCTCTGACGATAATTCTGTCTTTTTCTTGTTCCTGTCCTGTTGTTTTTTTTTACTCTCTTCCACACGTGCCGTTTCCCTGTTTTCTCCTCTTCCCTGTGGTCTTTTGGGAGCAGGGAATTCCTCACAGTGTCATGCCACCTTTACCAAAGCGACCCGCGCTTGAGAAAGCCAACGGTGCCACGAGCATGTTCAGCGCTGGCATGCTCCAGTACCAGCAGGCTTTGGCCAACATGCAGTTTCAGCA
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa33021
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 > G
Consequence:
Essential Splice Site, Splice Site
Transcripts:
| Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
|---|---|---|---|---|---|
| ENSDART00000074924 | Essential Splice Site | 280 | 409 | 16 | 21 |
| ENSDART00000074929 | Splice Site | None | 400 | None | 14 |
| ENSDART00000098061 | None | None | 424 | None | 18 |
| ENSDART00000124307 | None | None | 412 | None | 17 |
| ENSDART00000126200 | None | None | 118 | None | 3 |
Genomic Location (Zv9):
Chromosome 2 (position 47931393)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 2 | 47963057 |
| GRCz11 | 2 | 47817221 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
TTTCGTCTGCCAGAAACATTTGAGTAGTGCTTCGCTTGCTTCATTTGCAT[T/G]GAGTTAGCAGTATGGATGTTGTAATGTTAATGACTTTTTTTAATACTCTA
Long Flanking Sequence:
CCTACAAATATAATCATACAATTGGTTTTGTGGTCCGGGGTAAACAAAGAGATTATGTGCATATAAACAGTTATTAATATTAATCAAGAGAGTAGAATAATCATGGTTGATAATAAGATATGCAAAAGTAAAAGGAAGGTTGTTTGCCAGTTCTGCAATAACCTCAATACACCCACAAATAATGCAACACCTTTTTAAAAGATCATTATTACTATTGTTTGGTAGATTTTGTCCATTTTTGGATAGTTAGTGATTTGGTCTTAATGACATAGATGTCATTTTTTACGACATTTATATTACATGATCTTATGTAGGAGCTACTTGAGATGTGTTTGTGAATACGGGCTCTAGTCTCTTTCTCACACTTATCATGGAGTGAGCAGTGCAGTTTATTTTCCTTTTGTTCTTTTTTTGTTTTTTCTTTTTAACGTGTTACTTTTGGTCACTTTGTTTCGTCTGCCAGAAACATTTGAGTAGTGCTTCGCTTGCTTCATTTGCAT[T/G]GAGTTAGCAGTATGGATGTTGTAATGTTAATGACTTTTTTTAATACTCTACTGATGTAAAACTAATGATGTGACGTAATCACAGATGCTGATTTTGTAGCCGTAGCGAGAGGAACTTGGCTCTTTGGCTTTTTGCTTGTGCCGTAGACATGTTTTAGCTGCCGCTTGCTTGCTTGTTTGTCAGAATCCAGCCCTGTGATGTTTTTTGCCCTCTGACGATAATTCTGTCTTTTTCTTGTTCCTGTCCTGTTGTTTTTTTTTACTCTCTTCCACACGTGCCGTTTCCCTGTTTTCTCCTCTTCCCTGTGGTCTTTTGGGAGCAGGGAATTCCTCACAGTGTCATGCCACCTTTACCAAAGCGACCCGCGCTTGAGAAAGCCAACGGTGCCACGAGCATGTTCAGCGCTGGCATGCTCCAGTACCAGCAGGCTTTGGCCAACATGCAGTTTCAGCAGCAGGCAGCCTTTATTCCTTCAGGTAGGGCTTCTGAACACCGCTTCA
Associated Phenotype:
Not determined