ZMP
mbnl2
Ensembl ID:
ZFIN ID:
Description:
muscleblind-like 2 isoform A [Source:RefSeq peptide;Acc:NP_001155141]
Human Orthologue:
MBNL2
Human Description:
muscleblind-like 2 (Drosophila) [Source:HGNC Symbol;Acc:16746]
Mouse Orthologue:
Mbnl2
Mouse Description:
muscleblind-like 2 Gene [Source:MGI Symbol;Acc:MGI:2145597]
Alleles
There is 1 allele of this gene:
Allele Name | Consequence | Status | Availability |
---|---|---|---|
sa19403 | Essential Splice Site | Available for shipment | Available now |
Mutation Details
Allele Name:
sa19403
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:
A > T
Consequence:
Essential Splice Site
Transcripts:
Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
---|---|---|---|---|---|
ENSDART00000022019 | Essential Splice Site | 336 | 339 | None | 7 |
ENSDART00000043864 | Essential Splice Site | 368 | 371 | None | 8 |
ENSDART00000074923 | Essential Splice Site | 205 | 208 | None | 6 |
ENSDART00000098059 | Essential Splice Site | 205 | 208 | None | 6 |
ENSDART00000122626 | Essential Splice Site | 380 | 383 | None | 9 |
ENSDART00000124534 | Essential Splice Site | 368 | 371 | None | 8 |
ENSDART00000128187 | None | None | 58 | None | 2 |
ENSDART00000131714 | None | None | 9 | None | 2 |
ENSDART00000132126 | Essential Splice Site | 166 | 169 | None | 4 |
ENSDART00000138396 | None | None | 9 | None | 2 |
The following transcripts of ENSDARG00000018460 do not overlap with this mutation:
Genomic Location (Zv9):
Chromosome 1 (position 1970965)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 1 | 2066385 |
GRCz11 | 1 | 2214179 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
ACCTTCACTAATATCAGGATGCTGTTCTGTGTTTGTTTGTTTGTTTGTGC[A/T]GATCATCTTGAAGTAAATCACCGAAGAGGAACGGGGTGTCAGGAAGCTGC
Long Flanking Sequence:
AGACATAATGAGAACATGAAATTCAACATTGCATCATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATAATAGAAAAGGTTATTTTTTAATTATAGTGTTTTTGCAATATTTTTGGGAGTACTTATAATCTTTTGAGCTCTTTCTAATACAAACTATGCTAAAAGCATGCCTACTATCTGTGCATCCTTTGCTTCCTTCCACCTGAGAAGACTAAACAGTCAATCTTGGAGTTTTTGAGTCACTAAAATACAAAGAACAAGCTCATAATCACTACATTAACAATAAATAGCATGCACATCCCTCGCTCATGTCGTATCGGCATCATCTCGATCTACACAAACAGCGTTACTCCATGAAGATGCCATGTAGGATGTTAATCAGAGTACTTAAGATCAAGCGTGATGTCCAGTGCACCTTCACTAATATCAGGATGCTGTTCTGTGTTTGTTTGTTTGTTTGTGC[A/T]GATCATCTTGAAGTAAATCACCGAAGAGGAACGGGGTGTCAGGAAGCTGCTCTGAGAAACCCAAAAAGATCCCCGTGTAAATACGACCTGCCCTCCCCTTTAGAACTACAGCAACCTGCATGCTAAAGCGAAATACAATAGCAAGCCACTACAACACACACACTCACACACACATCTGTTATGCTCAGAAAAGTGATTTAACTGGTTACTTAAAAGATGTAAAAAAAAAAGAGACAAGAAATATATATATATATATATATATACATACATATGTATATATATGTATAGATGAACATGTTAATGTACAGCACGTTTCATAGAGGTATAAGTGAGCTTCATCTGAATGATCGGTCACCTGTCAGATAATGTGTATTTTTCTCCCATGTTTGAAATGAAATGCACAATGAGTGGGCGACAAAACACACACACATATATATATATATATATATATATATATATATATATACACACACACACACACACACTTGGTTTGCACTGTC
Associated Phenotype:
Not determined