Busch Lab

ZMP

si:dkey-229d2.2

Ensembl ID:
ENSDARG00000030311
ZFIN ID:
ZDB-GENE-060526-262
Description:
Novel protein similar to vertebrate transmembrane channel family [Source:UniProtKB/TrEMBL;Acc:A2BFV4
Human Orthologue:
TMC2
Human Description:
transmembrane channel-like 2 [Source:HGNC Symbol;Acc:16527]
Mouse Orthologue:
Tmc2
Mouse Description:
transmembrane channel-like gene family 2 Gene [Source:MGI Symbol;Acc:MGI:2151017]

Alleles

There are 2 alleles of this gene:

Allele Name Consequence Status Availability
sa8817 Nonsense Mutation detected in F1 DNA Not yet available
sa38469 Essential Splice Site Mutation detected in F1 DNA Not yet available

Mutation Details

Allele Name:
sa8817
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 > T
Consequence:
Nonsense
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000044471 Nonsense 147 865 4 19
ENSDART00000141924 Nonsense 67 786 2 17
Genomic Location (Zv9):
Chromosome 5 (position 27281300)
Other Location(s):
Assembly Chromosome Position
GRCz10 5 25036598
GRCz11 5 25636751
KASP Assay ID:
2259-5813.1 (used for ordering genotyping assays)
KASP Sequence:
AAAGAGAAGCACAGGAGTTTGTGGAGAAGTTTGAAGGAGCTTTRRGCAAA[G/T]GAAAAGGGAGGAGACTGTATGCATTTAAAGTCATGATGACCAAGGTACAA
Long Flanking Sequence:
ATACTTGTCCCGGTGTTGTTTCTTGTGCTTACTGTCAAATGCTGAACGATCATGCTGCGTAATGGAAGCAGCCCACATTGGTAAGTCAGTGGACTGGTACGTCAGTTGGTTAGCAAATGTGCGATGATATCACACTTAAACTTAAATACTTGTGCCATGCTGAAATATGGGTCACACTTTATCTTAATGGTCCATTTCTTGAATTTAAGTTACATTGCAACTAATTCTCATTAGATTATACATAGACTGTTATAGGTTGGGGTTAGTGTAAGTTGACATGTACTTGCAAATTTTCTTATATTTAGTGAAATGTTTTATGTTGGAGCAATATTAACAGATATTAAGCAGACAGTCTACCAATACTCAAATGGACCATCAAAATAAAATGTCACCAAGTTATGAAATCATTTAAAGTCACTCTGCTAACACATGTTTCTGTATCTCCATTGTAAAGAGAAGCACAGGAGTTTGTGGAGAAGTTTGAAGGAGCTTTAGGCAAA[G/T]GAAAAGGGAGGAGACTGTATGCATTTAAAGTCATGATGACCAAGGTACAACATTATGTTCACTGTTTAAGTTTCTTCCTAACGGCAATAACTGAACATTTGTGTTGTCTTTGCTTCTCAGAAATTAATCAAATTCAATAGAGACTTTGAAAACTTCAAGACGGCTTGCATTCCCTGGGAGAGTCGAATAAAAGAAGTAGAAAGTCTGTTCATCTCTGTGTTTCCCCCCTGATGTTTCTGTATTTTATATTATTTTCTCATCAGTGTCATCTGTTTCTTGTAGGCCATTTTGGATCATCTGTTGCCTCCTATTTTATTTTCTTGAGATGGATGTATGGACTAAACCTTGTTCTCTTCGGCTTCATGTTTGGACTTGTTGTTATTCCAGAGGTGAGATGTGATACTGTTATCAAAATATTTGTTTATAGAGAATGGGAATGTATGTTGTGTTGTGTGCATTATGTGTATTGTAATGTTAACCCAATCTGTGTTGTTTTCTTT
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa38469
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
ENSDART00000044471 Essential Splice Site 354 865 9 19
ENSDART00000141924 Essential Splice Site 274 786 7 17
Genomic Location (Zv9):
Chromosome 5 (position 27280228)
Other Location(s):
Assembly Chromosome Position
GRCz10 5 25035526
GRCz11 5 25635679
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
ACCCAGAGACAGCCGACAACAAGTTTGCCTCCACCACCACAAGCTTCAAG[G/A]TTAATAGCGATGATGAAAGAAAATGTGAAGATAAACTGATCAAATCAAAC
Long Flanking Sequence:
CCATGGACTTCTCTGTGCTATTTGAGTTTGGAGTAAGAGTTTTTTACTAGCAGATTCTTTGTATAACAAGCTGTAAGTTTCCCCTCATTATACCTTTGACATTTTTTACAGGGTTATTGCAAGTACTCCATTCTGTTTTATGGTTTCTACAACAACCAACGAACTATTGGATTCCTGCAGTTCCGGTTACCTCTGTCATACCTTCTGGTTGGTGTTGGGATATTTGGCTATAGTCTAATGGTGGTTATCAGAACGTGAGTTTTCTGATCAGAGCTTTATGTAAACTTGCAAGGGGGTTTACTTTACTTGCTGAGAGTGCAGAATTTACTTCCTAATCATCTGCATATTTTAGAATGGCCAGAAACGCCAATGAAGGAGGAGATGGAGGAGATGAAGGTAACTTCACCTTTTGCTGGAAGCTGTTCACTAGCTGGGATTACCTTATAGGAAACCCAGAGACAGCCGACAACAAGTTTGCCTCCACCACCACAAGCTTCAAG[G/A]TTAATAGCGATGATGAAAGAAAATGTGAAGATAAACTGATCAAATCAAACTTTTAACTGGGTTTTGTTTTCACAGGAATCTATAGTGGATGAGCAGGAAAATCTAAAGGATGAGAACATTCACCTGCGCCGCTTTCTCCGTCTCTTGGCCAATGTTCTCATCCTATGCTGCTTGGCTGGCAGTGGATACCTCATCTACGCTGTGGTCAAAAGATCACAAGACTTTGCCAAGAGGGACAGAAATGAATTGACATGGCTTCAGAAAAATGAGGTACCCCCCTTGTTTTCTCTTTTCATCCGTGTTTTAATGTAATGGCATGACTTGTGAAAATCTGCTCGATCTTTCTTTGGTCAGGTTGAAATTGTGATGTCGCTGCTGGGCTTGGTGTGTCCACCTTTGTTTGAGGCTATAGCTGAGCTTGAAGACTATCACCCTCGAATCGCACTAAAGTGGCAGCTGGGCAGAATCTTTGCCCTCTTTCTGGGCAACTTGTACACTTT
Associated Phenotype:
Not determined