Busch Lab

ZMP

LOC561110

Ensembl ID:
ENSDARG00000071304
Human Orthologue:
TBC1D2
Human Description:
TBC1 domain family, member 2 [Source:HGNC Symbol;Acc:18026]
Mouse Orthologue:
Tbc1d2
Mouse Description:
TBC1 domain family, member 2 Gene [Source:MGI Symbol;Acc:MGI:2652885]

Alleles

There are 4 alleles of this gene:

Allele Name Consequence Status Availability
sa9303 Essential Splice Site Mutation detected in F1 DNA Not yet available
sa22419 Essential Splice Site Available for shipment Available now
sa35630 Nonsense Mutation detected in F1 DNA Not yet available

Mutation Details

Allele Name:
sa9303
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
ENSDART00000105344 Essential Splice Site 327 926 6 14
Genomic Location (Zv9):
Chromosome 14 (position 6316913)
Other Location(s):
Assembly Chromosome Position
GRCz10 14 6003910
GRCz11 14 6310744
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
ACTTCAGCATGAAAAACTTTCCCTGGCTGAAGAGGTCAAAGCTCAGAAGG[T/C]AAAGTGAGGACATTACACACCACTTCAKCTTYTTCTTCCTGTTGGTTTAY
Long Flanking Sequence:
ATGTCTCACCAATAGACTCAGCAGTGCAAATATCTTATTGCTTGTATTACACGTGATCCGATATGGAATACATTGGCAACAAAGTAATTTTTACAGTTGATTGGTTTGGTTTTGGTTCCACTGCAGTCTATAGAGGATGAGGGAGCTCTCAAATGTAATCTAAAATATCTTAATTTGTGTTCTGAAGATGAATGAGGGTCTCAGGAGATTGAAGGGACATGAAGTTGAGTATTTCATTATATAATTCTTGGTGAAACTAGCCTTTTAATTCTAACAATCACCTTTCTCTGTAGCCTTAGTAGTCCCTGCAACTACTTCATATCAAGCCCCAGAATCTCCTGTTAAAGCTAAATGTGAAGACCCGCACCAGAACAACATTTCCACCATATCGCAAAACAGGAAGAGCGGCAAAGAAAGATCCAGATTTTTGGACCTTAAGGACACATCTCAACTTCAGCATGAAAAACTTTCCCTGGCTGAAGAGGTCAAAGCTCAGAAGG[T/C]AAAGTGAGGACATTACACACCACTTCATCTTCTTCTTCCTGTTGGTTTATTGATTGCTTATGTAAAATTAAAAGAGTAGTTCACTTTCAGAATGAAGGTTTTCTGATTGTTTACTCACATCCCCTGCAATCCAAGATGTTAATTTTTTTCAGTCAAAAAGACATTTCAGGGAAACATTGCAGGATTTTTCACAATATAGGGTAATTCTATGCTGCTCAATGGTTTAAACTTCCAAACTGCAGTTTTACTGAAGCTTAAAAGGGCAAGTACTTTTTTTAAAAAATGAAAATGACCGATCCTTTCACTGAGATCGCCCTTTGTAGTTAAATTAAAACTGCAATTTGGAAATTCAAATGACCGAGCACCATAGACATGCTCTATATGGAGAAAAATACGGTTTCCTTTTCTTTTTGACTGAAAAAAGAAAGAATAAACCTCTTGGATGACACAATTATGTGTACATTTTCAGAAATGTTTCACTAACCCTTTAATGCAACATT
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa22419
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
Mutation:
T > A
Consequence:
Essential Splice Site
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000105344 Essential Splice Site 492 926 8 14
Genomic Location (Zv9):
Chromosome 14 (position 6320990)
Other Location(s):
Assembly Chromosome Position
GRCz10 14 6007987
GRCz11 14 6314821
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
GATGCTTTGGAGAAAAAGTTCTGAACGGGAGAAAAGTCTTATAGTAAAGG[T/A]GAATTATTATTATTACATTCCTGGTACTACCATTTAGTCAAGCTAGTAGA
Long Flanking Sequence:
AATATTATAATTTTGACTTTTAAAATTCTTTAAAAACTGCTGTTATTCCAGCCGAACTAAAAGGGGACAAAAGTTCTGTTGAAGAAATAAAATAAAATAGGAAATACTGGGAAAATGTTCTTGCTTTGTTTAACATAAATATAGAAATATTTGGGGAAAAAAACTAGAAAAAATTAACAGAAGGGTTCATAAATTTGCCTTTAACTCTATAAAAAATATAGTAAAAAAATGATCAAATACTTATCAAATAAATTAAATCAAAAACTTAAATTGATCAATTAAAATTGTGAAAGAAATGTTTTCTCTTCATAGATGCATTATTTATGAGCAGCTAATCTGCATGATCTGATTCTGAAAGCATATTTACAGCTCCTTAACTCTATTCCAGGATGATCTGAAGGCATATAACATCCAGAACCAGTACCTAAACTCTGAGATCTACCAGCTGACGATGCTTTGGAGAAAAAGTTCTGAACGGGAGAAAAGTCTTATAGTAAAGG[T/A]GAATTATTATTATTACATTCCTGGTACTACCATTTAGTCAAGCTAGTAGAGTCTGAAAATAGGTTTTCTATGTGTGTGCCAGTGTGCTGTTTTGGAGGCCAATAACTGTCAGATGGAAAGCAGATACCTGGGAATCCTCCAGAAGCTCCAGGAGAGTCAGGAACTGAACCCTGAACAGAGAGAAGCGGTCAACAAGATGCTTAAAGATGCGGTTCAAGCAGACCTGAACAATGCCATCAAACTAAACCCCATCAGGTAAACACATCTGTCTGTATAAGCACAATTAAAAATTATATATATATATATCAGTTTCCCATATGAATGTCAAAAGGTTTATTTATGTTGACGAAAAACCCTCGCAACTCCCATTATTCCACAGTGATTATGATGAGTATGGATTTAGGATCGCAGTAGACTATAAAGTGGAGGATCTGAAGCTGCTTGCTAAGATCCAGGCCCTAGAGTTCAGGTCCCAAAACCTGCTGAACCAGGAGGAATGT
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa35630
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 > A
Consequence:
Nonsense
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000105344 Nonsense 831 926 13 14
Genomic Location (Zv9):
Chromosome 14 (position 6328375)
Other Location(s):
Assembly Chromosome Position
GRCz10 14 6015372
GRCz11 14 6322206
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
TTCTCGTTAACACAGGTGATATTCCGATATGCCCTGGCTCTTTTCAAATA[T/A]AGAGAGGAGGCCATCTTAAAGATTCAAGACAGTGTTGAAATGTACCAGTA
Long Flanking Sequence:
AAAATAAGCGTAATCTAGAGGCCTTTGCCTTTCATATAAGCCGCTTCTGATCCCAAATGATCAACTAGAAGTCAAGTTATTACTTGCTGTTCCTTTGTTGTTGACTTTTGTCAGGTAGTGTATATTTCCACTTTAATGTTTCTCTCACACACTTCATCATCATCATCATCATCATCATTTCATCCACCCAGGCTGATCAGCGTGTACTAAAAGACCTCATGTTAGAGAAACTGCCTCGACTCACGGCTCATCTGGAAGCACTGAAAGTAGACATATCCCTCATCACAGTTGAATGGTTTCTGGTGTTGTTTGTTGAGAGTCTGCCCACCCGCATACTGTTTAAAGTATGGGACGCCTTACTGTACGAGGGCAGCAAGGTAACGTTCATCTATAACAAATAAAACAGTACAAAAGCTTTAGGCTAAATACTATGAACTAAACCCTTGCCTTTTCTCGTTAACACAGGTGATATTCCGATATGCCCTGGCTCTTTTCAAATA[T/A]AGAGAGGAGGCCATCTTAAAGATTCAAGACAGTGTTGAAATGTACCAGTATCTTCGCATCTTCCCCAACACCATCGCAGACGGAAGGTGAGACGATCAATTGGAAATAAAACATTGAATGCGTGTTATTCAGACAGAAAGACTTCATTTTTGCAGGAAGTAATGTTCCAAGTACAAAATCTATGCTAGTAGAACATTCTTGTACAAAATAACCAAGAAAACCCATTTATTTTGCAGAAAACGTAGCCTTGGTTCGACAGACGAGGTTTAAAGCACTCAAAAAACGATGCATAGCGCAAGCTTTATGATTGATCGGTTTGGTATCGGTGACGAGTGTAGGCAGTGCTGAGTGCCACGAGCCCAATGTATCGGTGTTTACAAGTATCGAGTCCCGTGAAGGAGCTCCAGGTGAAAGCGTTTGTTTTGTTTACCTTGTGATTAAAGCTGTTGCACTTCTGCCGGTTCCCGCCTCTGAATGAGCGAGTTTTAGCTGCTTGTACA
Associated Phenotype:
Not determined