Busch Lab

ZMP

LOC571108

Ensembl ID:
ENSDARG00000078210
Human Orthologue:
TULP1
Human Description:
tubby like protein 1 [Source:HGNC Symbol;Acc:12423]
Mouse Orthologue:
Tulp1
Mouse Description:
tubby like protein 1 Gene [Source:MGI Symbol;Acc:MGI:109571]

Alleles

There are 2 alleles of this gene:

Allele Name Consequence Status Availability
sa40800 Essential Splice Site Mutation detected in F1 DNA Not yet available
sa16810 Essential Splice Site Available for shipment Available now

Mutation Details

Allele Name:
sa40800
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
ENSDART00000112344 Essential Splice Site 33 409 3 11
Genomic Location (Zv9):
Chromosome 6 (position 54503100)
Other Location(s):
Assembly Chromosome Position
GRCz10 6 54539834
GRCz11 6 54547942
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
GTTGACCTATCAAATTGATTTATTGTTTGTTGACTGTATTTGATTATGAA[G/A]ATGCCAAAGAGGATGCAGACAGTAAAGGAAAATCTAAAACCAAGAAGAAG
Long Flanking Sequence:
CCTACTAATGTGATTCCATTACTTTGTGATTTTTTTTCTTCTGTTGAACACAAAAGAGGATATTTTAAAGAAAGTTGAAAACCTGTAACCATTTACATTTAGTCATTTAGCAGACGCTTTTATCCAAAGCGACTTACAAATGAGGACAAGGAAGCAATTTACACAACTAAGAGCAACAATGAATAAGTACTAAAGGCAAGTTTCAGGTCTGTAAAGTCTAAGAAGGGAAGTATTAGTAGTATTAAATTTTAATTTTTTTTTGACTTCCATAGAAAAACCATTGACCATTGACTTCCATAGAAAAAACAACTACTATGGAAGTCAATGGACAGGTGTCCAGCATTCTTCAAAATATCTTCTTTTGTGTTTAACAGTAGACAGAATCTCATGAAGGTTGAAACAAGTAAAGGGTGAATAAACAATGACAGAATTGATAGTTTTGGTTCAACAGTTGACCTATCAAATTGATTTATTGTTTGTTGACTGTATTTGATTATGAA[G/A]ATGCCAAAGAGGATGCAGACAGTAAAGGAAAATCTAAAACCAAGAAGAAGGAACCCGCCTCCATGTTTCAGATAAATGGAGAAAAGCCTGAAACCAAGAGTAAAAAGAAAGGTAATGTTTGAGAACTTTTCTCTATGCGTGTCTGTTTTATGATTCAGAATATTATTTGCGTTTGATAATGTGGCTTGACGCAGCGGCCAAATCCGAGAGTGAAGAAGAGAGCGAACCCGAAACCAAAACTAGCAAGACCAAGAAGAAGAGCAGCTCAAACACAGCCTCCATGTTTCAGACCGGAGGAGACAAAGACAAGGACAAAAAGACAAAAAAGACCAAAAGTAAGGCCTGGTCCTTTATTAACCCGTAATGGACTCTTTTCATAACATAACGATAATGAATTTAATGGACACCAAAATCTTTAATCCTTGAAAGTTTTTAAGATTTAGATTTTTTTTATGCATGTACATTTATAAAGTTATACTTCCTATTATATCATCTATTCA
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa16810
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
Order Allele From EZRC
Mutation:
G > A
Consequence:
Essential Splice Site
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000112344 Essential Splice Site 69 409 3 11
Genomic Location (Zv9):
Chromosome 6 (position 54503212)
Other Location(s):
Assembly Chromosome Position
GRCz10 6 54539946
GRCz11 6 54548054
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
CATRTTTCAGATAAATGGAGAAAAGCCTGAAACCAAGAGTAAAAAGAAAG[G/A]TAATGTWTGARAACTTTTCYCTATGCGTGTCTGTTTTAWGATTCAGAATA
Long Flanking Sequence:
GACGCTTTTATCCAAAGCGACTTACAAATGAGGACAAGGAAGCAATTTACACAACTAAGAGCAACAATGAATAAGTACTAAAGGCAAGTTTCAGGTCTGTAAAGTCTAAGAAGGGAAGTATTAGTAGTATTAAATTTTAATTTTTTTTTGACTTCCATAGAAAAACCATTGACCATTGACTTCCATAGAAAAAACAACTACTATGGAAGTCAATGGACAGGTGTCCAGCATTCTTCAAAATATCTTCTTTTGTGTTTAACAGTAGACAGAATCTCATGAAGGTTGAAACAAGTAAAGGGTGAATAAACAATGACAGAATTGATAGTTTTGGTTCAACAGTTGACCTATCAAATTGATTTATTGTTTGTTGACTGTATTTGATTATGAAGATGCCAAAGAGGATGCAGACAGTAAAGGAAAATCTAAAACCAAGAAGAAGGAACCCGCCTCCATGTTTCAGATAAATGGAGAAAAGCCTGAAACCAAGAGTAAAAAGAAAG[G/A]TAATGTTTGAGAACTTTTCTCTATGCGTGTCTGTTTTATGATTCAGAATATTATTTGCGTTTGATAATGTGGCTTGACGCAGCGGCCAAATCCGAGAGTGAAGAAGAGAGCGAACCCGAAACCAAAACTAGCAAGACCAAGAAGAAGAGCAGCTCAAACACAGCCTCCATGTTTCAGACCGGAGGAGACAAAGACAAGGACAAAAAGACAAAAAAGACCAAAAGTAAGGCCTGGTCCTTTATTAACCCGTAATGGACTCTTTTCATAACATAACGATAATGAATTTAATGGACACCAAAATCTTTAATCCTTGAAAGTTTTTAAGATTTAGATTTTTTTTATGCATGTACATTTATAAAGTTATACTTCCTATTATATCATCTATTCATCAAATTACAAAAAACGAAATATGTGAGGTGTTTGTGATGCCGCAGTCACACTAGAGTTTAAGCATTTGAAATTCTGTCGTATGCTGCTGCGAAAGGGGGCGGGTTTAACAA
Associated Phenotype:
Not determined