ZMP

tfeb

Ensembl ID:

ENSDARG00000010794

ZFIN ID:

ZDB-GENE-090807-3

Human Orthologue:

TFEB

Human Description:

transcription factor EB [Source:HGNC Symbol;Acc:11753]

Mouse Orthologue:

Tcfeb

Mouse Description:

transcription factor EB Gene [Source:MGI Symbol;Acc:MGI:103270]

Alleles

There are 2 alleles of this gene:

Allele Name	Consequence	Status	Availability
sa16652	Essential Splice Site	Available for shipment	Available now
sa38837	Nonsense	Mutation detected in F1 DNA	Not yet available

Mutation Details

Allele Name:

sa16652

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
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Mutation:

T > C

Consequence:

Essential Splice Site

Transcripts:

Transcript ID	Consequence	Amino Acid Affected	Amino Acid Total	Exon Affected	Exon Total
ENSDART00000006580	Essential Splice Site	67	491	1	8

Genomic Location (Zv9):

Chromosome 11 (position 23145132)

Other Location(s):

Assembly	Chromosome	Position
GRCz10	11	22151363
GRCz11	11	22311931

KASP Assay ID:

None (used for ordering genotyping assays)

KASP Sequence:

ACCAACACACTTCCAGGGACCCATGCAGGTGCCTGTTGAAGTGCTAAAGG[T/C]AGGTGTATCCATCAGCCTGTGTATCTGGGTTTGACTTAAAGCATATTTTA

Long Flanking Sequence:

TATTTACTTTTTTTGTGCGGGTGTATAACCCCTTTTGTGGTAACAACAGCTTAAAATTTCTGGGTCTTTACCAACAGATCTGTATTCTGTTCTGTATTGTAAAATGAATTTATACAATGAACTTGATAACCTTACGGTACAAATGAACTTGTCACTGTTTCTAATTCAGTGTAAATATAATTGCATCCATCCATTTACTTTATAATCATTTCCTCAAACTATTTTCTTGACAGACACCCCACCACTCTTCGGGCTGGACTGCGCGGCGACAGCAGCCCGCCCCCCGCGTCCCCCAGCCATGTCGTCACGCATCGGCCTGCGCCTGCAGCTCATGCGGGACCAAATGCAGCAGGAGGAGCAGCGGGAGCGGCAGCAACAACAAGCAGTATCAATGCATTACATGCAGCATCGCATGCCAGGCCCACCTGAGCCCACGCCAGCCATCAGTGCACCAACACACTTCCAGGGACCCATGCAGGTGCCTGTTGAAGTGCTAAAGG[T/C]AGGTGTATCCATCAGCCTGTGTATCTGGGTTTGACTTAAAGCATATTTTACATGAATCTTAAATTTATGAAGTTAGTAGAGACTTCACGCAATTCATCGAAGCCAATAATACCTGTAATACACAATACCACATTTGTTAGTGTGACCATTTTTAGCAGCATGAGTTATCGGACAATGCCTGTCATGAGTGCAAGAAAACACGAGAGTTCCCTTCTCACGGACTGATGTGTTTTCCACAGTTAATAAAATCAGAAATGTAATGAATTATACATATAACAGCACATTTCTGACCCTGGACCACAACACCTTATTTTGCACAAGCATCATTTTTGTCAAAAGTACATTATATGGGCCAAAATGTTATATTTCTTATGCCAAAAATCATTATAATATTAAGTAAATATTAAAGATTTTTAGAAGACCTACTGAATATATTTCAGATTTTTTTATTTTTTTTTATTTTGCATTGCTAAGAACTTAATTTGGGCAAATTTAAAGTG

Associated Phenotype:

Not determined

Mutation Details

Allele Name:

sa38837

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
ENSDART00000006580	Nonsense	350	491	8	8

Genomic Location (Zv9):

Chromosome 11 (position 23125909)

Other Location(s):

Assembly	Chromosome	Position
GRCz10	11	22132140
GRCz11	11	22292708

KASP Assay ID:

None (used for ordering genotyping assays)

KASP Sequence:

None

Flanking Sequence:

TCCACGGCCTCCCCAGCAACTCCCCATCTGGCCTGACCAACACTGACCAC[C/T]AAAACCCCTTCATCAAGCAAGAAAGCAGCCCTGAGGAGAACCACCTCCAG

Long Flanking Sequence:

GGTAATCTAAAAAAAATAAATATAAACTTTAATAACTCTGCTCTCTATTTAACTGAAACTAAAATGCTTTTGCTTAAAAGCTGAAAATTACTATAAGTCATACTCCTGGGCTAAATAACTAAATACAAATATGATGTTTAAAAAATTTATTAAAATCTAAAAACACAAAACAAATCACTAAAAATAAATGAATAATTTTTATTTGAAAATATAAGTTTATAAAAAAAATGCCAAAATAGAGCTAGTATAGAACAATACCAACAAATTAAAAACAAAAATCCAGTATCACACACACACATCATAATTTCTACTAACTTACTGAATACCCCTCAAAACAAAACAACAAAATATATAAATTAAAGTAAAAACATTAAAATAATCATCCCTAATCAACCCTAATCATCCGTCTCATTCCACTTACCCATCAGGAGCTAGAAAGACAAGCCCAAATCCACGGCCTCCCCAGCAACTCCCCATCTGGCCTGACCAACACTGACCAC[C/T]AAAACCCCTTCATCAAGCAAGAAAGCAGCCCTGAGGAGAACCACCTCCAGCACCAGTCCCATCTGCCTCCTCGCTACCCCCAGCAGCACCCTCAGCCTCACCCTCAGCTCCACCAGCACCAGCACCTCCACCCTCAGCCCCCGCTGCAGTACCCAGCCGTGGGCAGCTCTCAGCACTTTGACTTGGCCCAGTCTCTGGACTTGTGCGATGGAGGCATCCCAGGATACCAAGATGGCCTGGGGGATCTGGGGTTTCTGGGTGGAGGCATTGCGCAGATGGGAAAGAAGAGTGAGCTGAGCTTCTTGCTGATGGAAGAGGCTCTGTCTCCGCTGGGTGGAGACCCACTGCTGTCCGCCATGTCGCCCGAAGCATCGGTAGACAGCAGCCGGCGTAGCAGCTTTAGCATTGAGGACTCGGATATACAGTGAACTGGATGTGCATTTAATACACACACACACACACACACACATACACACTCATACTGCATTTAGTTTGGCATG

Associated Phenotype:

Not determined