Busch Lab

ZMP

mbnl2

Ensembl ID:
ENSDARG00000018460
ZFIN ID:
ZDB-GENE-030131-9582
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.
Availability:
Order Allele From ZIRC
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