Busch Lab

ZMP

tnpo2

Ensembl ID:
ENSDARG00000038239
ZFIN ID:
ZDB-GENE-040822-16
Description:
transportin-2 [Source:RefSeq peptide;Acc:NP_001004003]
Human Orthologue:
TNPO2
Human Description:
transportin 2 [Source:HGNC Symbol;Acc:19998]
Mouse Orthologue:
Tnpo2
Mouse Description:
transportin 2 (importin 3, karyopherin beta 2b) Gene [Source:MGI Symbol;Acc:MGI:2384849]

Alleles

There are 3 alleles of this gene:

Allele Name Consequence Status Availability
sa6883 Essential Splice Site Mutation detected in F1 DNA Not yet available
sa33134 Essential Splice Site Mutation detected in F1 DNA Not yet available

Mutation Details

Allele Name:
sa6883
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:
T > C
Consequence:
Essential Splice Site
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000055757 Essential Splice Site 216 889 7 25
Genomic Location (Zv9):
Chromosome 3 (position 18639537)
Other Location(s):
Assembly Chromosome Position
GRCz10 3 18667899
GRCz11 3 18817639
KASP Assay ID:
554-5258.1 (used for ordering genotyping assays)
KASP Sequence:
CATTAGTAGAGCACAAGCCCTCATGGACAACATYGACACTTTTATTGAGG[T/C]ACTGATCCATGTGCAATGGATTTAATAATATCCATTCTTAAAGTTTTACT
Long Flanking Sequence:
ACATGTTTTTTTCCTTTAACTATATAAGCAGAATTGTGCTGTATGACCGTTGCAAAACAGCTATTTAGGAAATACTGTCCATTTGACATTTCTATATATTGTCACCTCTGCCACACTTCAGATGTGCTGTTGCATCTCACACCCTAAAATACAGAAATATAGTGAGATTTAAATTTTTTTTTTCTTTGTTAATATCCAGGGCTCATTTGGAGCTCTTCAGAAGATTTGCGAGGACTCTTCTGAGCTACTGGACAGTGATGCTCTGAACCGACCTCTAAACATCATGATCCCCAAGTTCCTGCAGTTCTTCAAACACTGCAGCCCCAAGATCAGGTTTGTTTAGAGGATTCTTCATCTCTCTTGGAACAAAACGCTTTATACAATGAGGATCTAATGGTTGTTCTTGTGGTTTTGTAGGTCTCATGCTGTTGCCTGTGTGAACCAGTTCATCATTAGTAGAGCACAAGCCCTCATGGACAACATTGACACTTTTATTGAGG[T/C]ACTGATCCATGTGCAATGGATTTAATAATATCCATTCTTAAAGTTTTACTAAAGCAACCCCCGCTTAATGTAATGAAGTGCAAATGTCACAATAATTGTTAATTGATTTTATCAGAAAAATCTTTGTTATTAAGTCATTATTGTATTTTATATACCTATAAAAATTTTATATTGTCAACTTATCATTAATTGATCAAATAAAGTATTTTGGATGTTACCATGCTATTACTGCTTTATTTATAAATTAAACAACTGTAAAATTCTTTGAAATTTCAAATTATAGATGAGCAAAAGTGAGCAATGTTTTTTTTCTACTGAGGAGAATCTTTATTTGTGCATCATTCTGTGAAATTCATAAATTATACAATCTGATAATTACCATCTACTTAAACAAATGGAATTTATTTTAGTTACTTTTAGATGAAATGTATAGTTTTTTTTTATTGCTCAAGAGAAGCAACTGCCCATGTAACATCTAAATAAGCATGTTAACAAACATT
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa33134
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:
T > G
Consequence:
Essential Splice Site
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000055757 Essential Splice Site 854 889 23 25
Genomic Location (Zv9):
Chromosome 3 (position 18655466)
Other Location(s):
Assembly Chromosome Position
GRCz10 3 18683828
GRCz11 3 18833568
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
GGCCTCCTGGGTTACTCCAAAAGACGATTTGAGGGACATGTTTTACAAGG[T/G]ACAAATATTTTTCTTCAGTAACTAAGCTTTTGATGAGTTTATAGTTTTGC
Long Flanking Sequence:
GGGGTAAATCCTGGAGGAGTCGTACAGGTGAGAGCTAATAAATGGCAAACACCATAAGTTGCATTGGACAGTTGTCAACCATAACCAAAAATGCCACACTGAACTTTAATTCTACACAAATATTTTGAAATTAAGGTAAATCTAGTATTTTAATGTTATATTTACATAGTATCCTATTAAAAAAATAAAAGCGAAAATAAACATGAATGTATAATTTGTATTTTCTTTCTGTGTTCTCTAATGTACCCATTTTAATTATAATAAAGTATAAATACAGATTTTTTAGCCCACTTGTCTACTAATAAAATAGATAAATGGAGAAATTTATGTGTATGTTTTACTTGGGTTATTATTATTTAAAAAGTGTTAATAGTTAGTGTTAGTAGTTTCAGTTGGGCTTTAATGTGATTGTTTTTGCACTCAGGACTTCATCTTTTTCTGTGATGCTGTGGCCTCCTGGGTTACTCCAAAAGACGATTTGAGGGACATGTTTTACAAGG[T/G]ACAAATATTTTTCTTCAGTAACTAAGCTTTTGATGAGTTTATAGTTTTGCCAGCATAGAAGCACAAGTACTTGCCATTTCAAAGGCATTTGTCAACTTTTTCTCTAGATTCTGCATGGCTTTAAGGATCAGGTCGGTGAGGAAAACTGGCAGCAGTTCTCAGAACAGTTTCCACCGCAGCTGAAGGAGAGACTTTCAGCCTGCTATGGTGTGTAGATTCACTCTTGCGACATGGAAAACCAACTATTAAGGTGAGTAACCTCAGCAATCAAGTAAAAACAGCTTATCTAATGGGGTGTGCAATGTTTATTAATGATATTGTAATAGTCTTATTTTTATTTTTATTTATTTTTTTACTTATGTTATCAAGTTTGCCTCTCACTGTAAACAACAACTAAATGTACTAAGAGTCTAAAACTTTGACTGGGTCAAAGAAGCTTATTAAAATCATGTTATAATAGGTATAATAATGCTAAATAAATAAAATTGATACAACTAGAA
Associated Phenotype:
Not determined