ZMP
mef2bnb
Ensembl ID:
ZFIN ID:
Description:
UPF0402 protein [Source:UniProtKB/Swiss-Prot;Acc:A3KQI3]
Human Orthologues:
AC002126.5, AC002126.6
Human Description:
UPF0402 protein [Source:UniProtKB/Swiss-Prot;Acc:Q96FH0]
Mouse Orthologue:
2310045N01Rik
Mouse Description:
RIKEN cDNA 2310045N01 gene Gene [Source:MGI Symbol;Acc:MGI:1919618]
Alleles
There are 3 alleles of this gene:
Allele Name | Consequence | Status | Availability |
---|---|---|---|
sa45768 | Essential Splice Site | Mutation detected in F1 DNA | Not yet available |
sa24144 | Nonsense | Available for shipment | Available now |
sa6703 | Nonsense | Mutation detected in F1 DNA | Not yet available |
Mutation Details
Allele Name:
sa45768
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:
A > T
Consequence:
Essential Splice Site
Transcripts:
Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
---|---|---|---|---|---|
ENSDART00000105432 | Essential Splice Site | 72 | 124 | 4 | 6 |
Genomic Location (Zv9):
Chromosome 22 (position 18392572)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 22 | 18143507 |
GRCz11 | 22 | 18168485 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
TAAAACTTCACCATACCTCATGACCGTTTCTCTTTGTTGTTGTTTTTTTC[A/T]GTGCGGTTAAAAGTATGACAAACAGTAGTCTCTATTTCAAGAACATAGAC
Long Flanking Sequence:
TTTGGATATAAGAAACAACATGCATTTTTATATGTATTATTATTATTATTATGTATACAGTTGAAGTCAGAATTGTTATTAAAATGCATTTTTCTAAATGTGTTTTATTATTATTATTATTATTATACCTCGGGGATATACATACATGCGTACAAAAATTTTTAAGTAATTTTAGCACACACACACACACACACACACACACACATATATATATATATATATATATATATATATACATATATATATATATATATATATATATATATATATATATATATATCTTCATAGTTAAAACCTGATGAGTAAAAGTTTTACTTTAACATCATTTAAATTCATAGACAGACATGCAGAGCTGGGAGGAACAGAGTCAAGGAGCAATTTACACAGTCGAATATGCATGCAGGTAAGATATGCATTACGTGAAGTATCATACTACTGATTTAAATCCCGTAAAACTTCACCATACCTCATGACCGTTTCTCTTTGTTGTTGTTTTTTTC[A/T]GTGCGGTTAAAAGTATGACAAACAGTAGTCTCTATTTCAAGAACATAGACGGTCTGCTCCGGCAAGCCATTTCTCTGAAGGAACAGATCAGCAGCTCGCAGGGACGAAGGTTGTAATCGCCGTCCATTTGTTTTTGCGCTTTTATAAAATCACATCATTATTTAATATCTTTCTTTAATTTTTCCTCATTTGCTTCATATTTAATTTGCTCACTTTTCTGTTTTGAAATACGCATGTGGCTTCAGTGCTGTGATTAATCCAAACGAAACACCCGCACACACTTCAGTCACACCTTGAATCATGGAAATCATTTTAACAGGTTAGTTTTGCTTCATCTTTTTAATTTCTTTTTACACCCTGCATGCTGTTTACTTCACTCTTGTTTTTTAAATGAGAGAAGTTGAAATACTAAATTCAGACCAGCTTCTTCCATACCTTTATTTTGCAACTGAAGTAAGACGACAATAATCTTCTGCAGCAATCATGTTACCTTTATGTAC
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa24144
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:
C > T
Consequence:
Nonsense
Transcripts:
Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
---|---|---|---|---|---|
ENSDART00000105432 | Nonsense | 107 | 124 | 4 | 6 |
Genomic Location (Zv9):
Chromosome 22 (position 18392677)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 22 | 18143612 |
GRCz11 | 22 | 18168590 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
TGCTCCGGCAAGCCATTTCTCTGAAGGAACAGATCAGCAGCTCGCAGGGA[C/T]GAAGGTTGTAATCGCCGTCCATTTGTTTTTGCGCTTTTATAAAATCACAT
Long Flanking Sequence:
TATTATTATTATTATTATTATACCTCGGGGATATACATACATGCGTACAAAAATTTTTAAGTAATTTTAGCACACACACACACACACACACACACACACATATATATATATATATATATATATATATATACATATATATATATATATATATATATATATATATATATATATATATCTTCATAGTTAAAACCTGATGAGTAAAAGTTTTACTTTAACATCATTTAAATTCATAGACAGACATGCAGAGCTGGGAGGAACAGAGTCAAGGAGCAATTTACACAGTCGAATATGCATGCAGGTAAGATATGCATTACGTGAAGTATCATACTACTGATTTAAATCCCGTAAAACTTCACCATACCTCATGACCGTTTCTCTTTGTTGTTGTTTTTTTCAGTGCGGTTAAAAGTATGACAAACAGTAGTCTCTATTTCAAGAACATAGACGGTCTGCTCCGGCAAGCCATTTCTCTGAAGGAACAGATCAGCAGCTCGCAGGGA[C/T]GAAGGTTGTAATCGCCGTCCATTTGTTTTTGCGCTTTTATAAAATCACATCATTATTTAATATCTTTCTTTAATTTTTCCTCATTTGCTTCATATTTAATTTGCTCACTTTTCTGTTTTGAAATACGCATGTGGCTTCAGTGCTGTGATTAATCCAAACGAAACACCCGCACACACTTCAGTCACACCTTGAATCATGGAAATCATTTTAACAGGTTAGTTTTGCTTCATCTTTTTAATTTCTTTTTACACCCTGCATGCTGTTTACTTCACTCTTGTTTTTTAAATGAGAGAAGTTGAAATACTAAATTCAGACCAGCTTCTTCCATACCTTTATTTTGCAACTGAAGTAAGACGACAATAATCTTCTGCAGCAATCATGTTACCTTTATGTACAACAAACTTACATGTCATTATAGCAAATAAGAAACAAAGAAAAACAATCGTATAAAGCTACACAGAGTGTTTCAGAAACAATTACACAATATTATTTAGCAATTT
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa6703
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:
G > T
Consequence:
Nonsense
Transcripts:
Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
---|---|---|---|---|---|
ENSDART00000105432 | Nonsense | 115 | 124 | 5 | 6 |
Genomic Location (Zv9):
Chromosome 22 (position 18392837)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 22 | 18143772 |
GRCz11 | 22 | 18168750 |
KASP Assay ID:
554-5373.1 (used for ordering genotyping assays)
KASP Sequence:
TTTCTGTTTTGAAATACGCATGTGGCTTCAGTGCTGTGATTAATCCAAAC[G/T]AAACACCCGCACACACTTCAGTCACACCTTGAATYATGGAAATCATTTTA
Long Flanking Sequence:
TATATATATATATATCTTCATAGTTAAAACCTGATGAGTAAAAGTTTTACTTTAACATCATTTAAATTCATAGACAGACATGCAGAGCTGGGAGGAACAGAGTCAAGGAGCAATTTACACAGTCGAATATGCATGCAGGTAAGATATGCATTACGTGAAGTATCATACTACTGATTTAAATCCCGTAAAACTTCACCATACCTCATGACCGTTTCTCTTTGTTGTTGTTTTTTTCAGTGCGGTTAAAAGTATGACAAACAGTAGTCTCTATTTCAAGAACATAGACGGTCTGCTCCGGCAAGCCATTTCTCTGAAGGAACAGATCAGCAGCTCGCAGGGACGAAGGTTGTAATCGCCGTCCATTTGTTTTTGCGCTTTTATAAAATCACATCATTATTTAATATCTTTCTTTAATTTTTCCTCATTTGCTTCATATTTAATTTGCTCACTTTTCTGTTTTGAAATACGCATGTGGCTTCAGTGCTGTGATTAATCCAAAC[G/T]AAACACCCGCACACACTTCAGTCACACCTTGAATCATGGAAATCATTTTAACAGGTTAGTTTTGCTTCATCTTTTTAATTTCTTTTTACACCCTGCATGCTGTTTACTTCACTCTTGTTTTTTAAATGAGAGAAGTTGAAATACTAAATTCAGACCAGCTTCTTCCATACCTTTATTTTGCAACTGAAGTAAGACGACAATAATCTTCTGCAGCAATCATGTTACCTTTATGTACAACAAACTTACATGTCATTATAGCAAATAAGAAACAAAGAAAAACAATCGTATAAAGCTACACAGAGTGTTTCAGAAACAATTACACAATATTATTTAGCAATTTATTAGATTTCTTACACGTCTAAGTTTATATTAGGTGTGTAAAAATAGTCCGATTTTGCTCTAAGTATCACATTTTGCACCTTATAAGACAAGAATGTAGCAGACATGCAGCATTACTTACACCTATATATAAATATATGAGAATATAAATAATAGCTAGC
Associated Phenotype:
Not determined