ZMP

ENSDARG00000086086

Ensembl ID:

ENSDARG00000086086

Human Orthologues:

TNPO1, TNPO2

Human Descriptions:

transportin 1 [Source:HGNC Symbol;Acc:6401]
transportin 2 [Source:HGNC Symbol;Acc:19998]

Mouse Orthologues:

Tnpo1, Tnpo2

Mouse Descriptions:

transportin 1 Gene [Source:MGI Symbol;Acc:MGI:2681523]
transportin 2 (importin 3, karyopherin beta 2b) Gene [Source:MGI Symbol;Acc:MGI:2384849]

Alleles

There are 2 alleles of this gene:

Allele Name	Consequence	Status	Availability
sa7569	Missense	Mutation detected in F1 DNA	Not yet available
sa38487	Nonsense	Mutation detected in F1 DNA	Not yet available

Mutation Details

Allele Name:

sa7569

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:

Missense

Transcripts:

Transcript ID	Consequence	Amino Acid Affected	Amino Acid Total	Exon Affected	Exon Total
ENSDART00000124887	Missense	19	128	1	4

Genomic Location (Zv9):

Chromosome 5 (position 36870604)

Other Location(s):

Assembly	Chromosome	Position
GRCz10	5	34652553
GRCz11	5	35252706

KASP Assay ID:

554-4104.1 (used for ordering genotyping assays)

KASP Sequence:

GTGCCAGTGGAAACCCGACGAGCAGGGGCTTCAGCAGATCCTACAGCTGC[T/G]CAAGGAGTCACAGTCCCCGGATACATCAACGCAACGATCCGTCCAACAAG

Long Flanking Sequence:

GGGGCTCGAACCCACGACCCTGAGATTAAGAGTCTCATGCTCTACCGACTGAGCTAGCCGGGCTTAAGATTAATGCTTTGGGGGTCACATCAAGGGTTTCCCCGCTAACTCCTTTAGTCCAGTGAGCTACCTATCGGGCACTAGGACCCGGGCGCTACTGCACAGAGGCTTATCGCTGCGATGTGCGGTGATCCGGACCAGACCGAGTCCCTGAATGTATGTAAGCTAGCCTAGCGCCACCAACAACCACCACCACCGCCCGCGGAACACGCGCAATTTCACCCGGGTCCAGCCACCACAATCCCTTGCAGAGGCGTCTTCCTCACCCCCAGCTCCATAATAGTCGGCCCGAAGCTGAAGGTCAAGGTGGAGGCCGTTATTTGATGTGAAAGGGTGTAGATCTGTGCGCCTACAGAAAGAGAGAGAGAGACTTCAGCAACACAAGATGGAGTGCCAGTGGAAACCCGACGAGCAGGGGCTTCAGCAGATCCTACAGCTGC[T/G]CAAGGAGTCACAGTCCCCGGATACATCAACGCAACGATCCGTCCAACAAGTATCCTTAACCGCACTGTTAAACCGAGCACTGAAGGGCGGCGGATAAGGGGGATGGCGGAGTTTCAGGAGGAACTGGCCTGTGATTAGCTCGTACCTTAGTATGCACTTGAGATTTGAAACCCACGCGGTCATTTACGGACTGCGTTATGCTTTTGTTTATATGTTATCTGTAGATTAGGATGGTGCCTGTATGGTGTCAGTACGCGTGTCGTCGACTGTCATTCAGGGAGTGTTTAACTTAAAGGGATAGTTCACCTATAAATGGCCATCTGTCATCATTTACTCACCTCAGCTTTTCCCAAACCTGTTTGACCCTTTCTGCGAGGAATGTAAACGATAATGTTTTGATAAAAGTCAAAAGCTACTAACGTTAAGCAATAATGAAAGTCTGTGGTAACACAAATATTTAGCCGCTAACATTAATAAAAAACATATTCTCCTGCCTTCCA

Associated Phenotype:

Not determined

Mutation Details

Allele Name:

sa38487

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
ENSDART00000124887	Nonsense	23	128	1	4

Genomic Location (Zv9):

Chromosome 5 (position 36870593)

Other Location(s):

Assembly	Chromosome	Position
GRCz10	5	34652542
GRCz11	5	35252695

KASP Assay ID:

None (used for ordering genotyping assays)

KASP Sequence:

None

Flanking Sequence:

AACCCGACGAGCAGGGGCTTCAGCAGATCCTACAGCTGCTCAAGGAGTCA[C/T]AGTCCCCGGATACATCAACGCAACGATCCGTCCAACAAGTATCCTTAACC

Long Flanking Sequence:

CCACGACCCTGAGATTAAGAGTCTCATGCTCTACCGACTGAGCTAGCCGGGCTTAAGATTAATGCTTTGGGGGTCACATCAAGGGTTTCCCCGCTAACTCCTTTAGTCCAGTGAGCTACCTATCGGGCACTAGGACCCGGGCGCTACTGCACAGAGGCTTATCGCTGCGATGTGCGGTGATCCGGACCAGACCGAGTCCCTGAATGTATGTAAGCTAGCCTAGCGCCACCAACAACCACCACCACCGCCCGCGGAACACGCGCAATTTCACCCGGGTCCAGCCACCACAATCCCTTGCAGAGGCGTCTTCCTCACCCCCAGCTCCATAATAGTCGGCCCGAAGCTGAAGGTCAAGGTGGAGGCCGTTATTTGATGTGAAAGGGTGTAGATCTGTGCGCCTACAGAAAGAGAGAGAGAGACTTCAGCAACACAAGATGGAGTGCCAGTGGAAACCCGACGAGCAGGGGCTTCAGCAGATCCTACAGCTGCTCAAGGAGTCA[C/T]AGTCCCCGGATACATCAACGCAACGATCCGTCCAACAAGTATCCTTAACCGCACTGTTAAACCGAGCACTGAAGGGCGGCGGATAAGGGGGATGGCGGAGTTTCAGGAGGAACTGGCCTGTGATTAGCTCGTACCTTAGTATGCACTTGAGATTTGAAACCCACGCGGTCATTTACGGACTGCGTTATGCTTTTGTTTATATGTTATCTGTAGATTAGGATGGTGCCTGTATGGTGTCAGTACGCGTGTCGTCGACTGTCATTCAGGGAGTGTTTAACTTAAAGGGATAGTTCACCTATAAATGGCCATCTGTCATCATTTACTCACCTCAGCTTTTCCCAAACCTGTTTGACCCTTTCTGCGAGGAATGTAAACGATAATGTTTTGATAAAAGTCAAAAGCTACTAACGTTAAGCAATAATGAAAGTCTGTGGTAACACAAATATTTAGCCGCTAACATTAATAAAAAACATATTCTCCTGCCTTCCAGCTTTTTAAAC

Associated Phenotype:

Not determined