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 are 3 alleles of this gene:

Allele Name Consequence Status Availability
sa32578 Essential Splice Site Mutation detected in F1 DNA Not yet available
sa9005 Nonsense Mutation detected in F1 DNA Not yet available
sa19403 Essential Splice Site Available for shipment Available now

Mutation Details

Allele Name:
sa32578
Status:
Mutation detected in F1 DNA
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
Not yet available
Mutation:
G > A
Consequence:
Essential Splice Site
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000022019 Essential Splice Site 58 339 1 7
ENSDART00000043864 Essential Splice Site 58 371 1 8
ENSDART00000074923 None None 208 None 6
ENSDART00000098059 None None 208 None 6
ENSDART00000122626 Essential Splice Site 58 383 1 9
ENSDART00000124534 Essential Splice Site 58 371 1 8
ENSDART00000128187 None 58 58 2 2
ENSDART00000131714 None None 9 None 2
ENSDART00000132126 None None 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 1886418)
Other Location(s):
Assembly Chromosome Position
GRCz10 1 1981838
GRCz11 1 2129632
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
GCTGCCAGGTGGAGAACGGACGGGTGATCGCCTGCTTCGACTCGCTGAAG[G/A]TAAGAGTGGCAGATTATTTGGTGCAGATTTCCTTTAGCTAATCCCAAAGG
Long Flanking Sequence:
GATATCGTTTCAAGGAAAGCCATTGCCTTCAGATAGAGTCATCCGCAACCGTCTGGCTCAAGAACGTTTGGAGACCTGGAGCATGTTCTTATTGTCGCGCCAGTGTTGTGCACCTGGGACTAAATGACTGATGAACAACTTGGCAGAGATTGACAGCTTCACTGATAGCGGGCATCTCCAATGCGACAGCCACGGGGGCTCTGAATGTGACATCTCTATTTAAAGGGCCTCGCCAAACAAACTGAGACCAACCTCAAAAGTACAGCAACACACAAACGCGCAGACTATTTCAACCCAAATCAACAGACAACATTCACAACACAACTATGGCTTTAAACATCGCATCGATACGAGACACAAAATGGCTGACTCTGGAGGTGTGCCGGCAGTTTCAGAGAGGGACGTGTTCGCGCAGCGACGAGGAATGCAAATTCGCACATCCGCCCAAAAGCTGCCAGGTGGAGAACGGACGGGTGATCGCCTGCTTCGACTCGCTGAAG[G/A]TAAGAGTGGCAGATTATTTGGTGCAGATTTCCTTTAGCTAATCCCAAAGGACTATTCTGTATATTATATAATTAAACATCTTTATTTATGATGCAGTATGTTTGCCTGAGGGTAAATCACTGCTTCGTGGCCTTTTTTTTTTTGGTTCATTACATCATTGATTGATGGATTTTACCATTAGAGCAGAAAACAAGGAAATTTGTATTTTTAAAATGATGGTAGTCAACAAATATATAAGTTTCATGTATATTTACATTAGAGTTCGAATAGCTTAGACTCAATCTTTTCATCCTTTGTTGAGGATAGACATTATTTTGACAATTTTTTGTTTATATATATATATATATATATATATATATATATATATATATATATATATATATAACAGGGTTATACACTGGTAAAAACACTATTTCATGACTTCCATTGTTTGCATTAAACCAGGGGTGCCCAAACTTTTTTGTACGAAGGGCCAAAAACCAAATATCATTGATATCCAT
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa9005
Status:
Mutation detected in F1 DNA
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
ENSDART00000022019 Nonsense 299 339 5 7
ENSDART00000043864 Nonsense 317 371 6 8
ENSDART00000074923 Nonsense 154 208 4 6
ENSDART00000098059 Nonsense 154 208 4 6
ENSDART00000122626 Nonsense 317 383 6 9
ENSDART00000124534 Nonsense 317 371 6 8
ENSDART00000128187 None None 58 None 2
ENSDART00000131714 None None 9 None 2
ENSDART00000132126 Nonsense 115 169 2 4
ENSDART00000138396 None None 9 None 2

The following transcripts of ENSDARG00000018460 do not overlap with this mutation:

Genomic Location (Zv9):
Chromosome 1 (position 1958345)
Other Location(s):
Assembly Chromosome Position
GRCz10 1 2053765
GRCz11 1 2201559
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
AAAAGAGTAACGGGGCCAGCACGCTCTTCAACCCCAGTGTCTTGCACTAC[C/T]AAMAGGCTTTGGCCARCGCACAGCTTCAGCAGCCCACCGCTGCGTTCTTT
Long Flanking Sequence:
AAAAGACTCAGTCGACTGCCAAAGCAATGAAGCGACCCCTCGAGGCATCTGTAGATCTGGTACTATGACCTTTCACCTTTTGCTTTGCATGTAGCTTTTTTAATGTACTGTAGCAGAACTCACAGAAAAAAAAAGTGATTTAATTTGGCTTCTTGCTTTTGATACAAACAGTAAAAAGTCACCAAGTGTACTTGTATGTAGAACTTACCATCAGTCGTAATTCTTGAAGCCTAGTAAACGTTAAGTGCCTTGCTAAAGTGTTTAGTGACGGTCGTCCTTGTGTTAAAAAAAAAAATAGACGGAGCCATTCAGCTTCAAGTCAACCTTGTGCATTGATTATTGTGTCAGACAATGCTTGCAAACCTGGTTTAACTGGTGCATGTATGCTCTTTCACGCTCAGGCGTTTCCGCATGGAGTCCTGCAGCCCCTACCAAAGAGACCAGCACTAGAAAAGAGTAACGGGGCCAGCACGCTCTTCAACCCCAGTGTCTTGCACTAC[C/T]AACAGGCTTTGGCCAGCGCACAGCTTCAGCAGCCCACCGCTGCGTTCTTTCCCACAGGTAAAAGCACACACGCACATGTACGAACCCATGCAAACGCCCACACGCTGCTTTGTATTAATCCCTGGGTCAGCCTCTAAACGTTCAACCCTTTTCTTCTCCGTCATAACCGAGGCTCTTAAACAGCCGTTTGTCCCTTTTGCATGCGGTGAGTGTGCACGGAATACTAATGCACGCCGTTTTTTTAATAGGCGAAATGCAATTCGAGAGCGCTCTTAATTTGAATTTCAGCAGCTTTAATGGATGTTTGAGCTACTTTGATCTGAAAATGATAATTGGCCATAGATTACATTCGAAAGATTTCACAGAAGTGCTTTGATCTGCACATCTGTAATACTGTCGGATTATATTACTCACAAAACATGCTCTTTATAACCGGTCAACATGTACAGCAGCGGTGGATTTAGAAGGTGTTTCCTGGGAATGCATTAGAAAATTGATTC
Associated Phenotype:
Not determined

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