Busch Lab

ZMP

TMC8

Ensembl ID:
ENSDARG00000060545
Description:
transmembrane channel-like 8 [Source:HGNC Symbol;Acc:20474]
Human Orthologue:
TMC8
Human Description:
transmembrane channel-like 8 [Source:HGNC Symbol;Acc:20474]
Mouse Orthologue:
Tmc8
Mouse Description:
transmembrane channel-like gene family 8 Gene [Source:MGI Symbol;Acc:MGI:2669037]

Alleles

There are 2 alleles of this gene:

Allele Name Consequence Status Availability
sa27837 Essential Splice Site Mutation detected in F1 DNA Not yet available
sa27838 Essential Splice Site Mutation detected in F1 DNA Not yet available

Mutation Details

Allele Name:
sa27837
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
ENSDART00000085448 Essential Splice Site 187 619 4 15
Genomic Location (Zv9):
Chromosome 11 (position 45854902)
Other Location(s):
Assembly Chromosome Position
GRCz10 11 44795965
GRCz11 11 45210359
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
CTCGGCATGGTCTCCATCATCTTCCTCAGCATCATCATGCTGGTGCGCAG[G/A]TCAGATCCTCTACTGTTCTGATAATACACTGATAATTATTGATTCAAGAA
Long Flanking Sequence:
ATGCAGAATTATGGCCAGAAGTGTGAGATGTGAACTTAAAATTACATAAAAAACACAGACTTTCAAGATAAAAACTTAAACTCACTCAAACTCAGATTTGTGCATAAAAAATTATTGATATAACCGCCTACTACTTGCAATGTATAAAACCTGAATTAGCCAACAGAGGTCAGAATTGTGAGATAATGGATATAGAATTGTGCGCATATAAATAAAAGTCTGTAAATTAAAATACACAATTTTGGTCGTCAGATTTACGCATGCCAACAGGGTCAGCGTCTGATGTTATCCTGACCTCAGTTTTCAGCTCCAGCATTCTGCAGCTCTTCTTCTTCTCCTCTGCTGTGTGTGTGTTTTTAGGGTGTTCTAGAAAAGTCTGCAGTCTTCCACAGTTTCTACACTCGTGGCTCTCTCGATGGTGCCTGTTTAAACACTCCACTCCTCTTTCTGCTCGGCATGGTCTCCATCATCTTCCTCAGCATCATCATGCTGGTGCGCAG[G/A]TCAGATCCTCTACTGTTCTGATAATACACTGATAATTATTGATTCAAGAAAACATGCAGTTGTTGCTCGTGACCACTAAGTGGCGCTATAACTATAGACTATGTCACAGGTGTCAAACTCAGTTCCAAAAGCTCTGCACAGTTTAGTTCCAACCCTAATTAAACACACCTGATCAAACTAATTGAGTCCTTCAGGCTTGTTTGAAACCTACAGGTAAGTGTGTTGGAGCAGGGTTGGAAATAAACTGTGCAGAGCTTCGGCCCTCCAGGAATTGAGTTTGACACCCCTGTCATTAGATTTAGTTAAAGGCTTCATTTCTGCTAACATAATGAACCAGTATAGAAATCTAATATGTATATGGCAACATAGGATATAACGTATACACATAATTCATGTTCGGATTTCAAATTAATAAAAATATACTGAATATATTATAAATATACATACATTTCAAAATCTAACATTTTTACAATTATTGCTGCTATTATATATAATGTGTG
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa27838
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:
Essential Splice Site
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000085448 Essential Splice Site 187 619 4 15
Genomic Location (Zv9):
Chromosome 11 (position 45854903)
Other Location(s):
Assembly Chromosome Position
GRCz10 11 44795964
GRCz11 11 45210358
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
TCGGCATGGTCTCCATCATCTTCCTCAGCATCATCATGCTGGTGCGCAGG[T/G]CAGATCCTCTACTGTTCTGATAATACACTGATAATTATTGATTCAAGAAA
Long Flanking Sequence:
TGCAGAATTATGGCCAGAAGTGTGAGATGTGAACTTAAAATTACATAAAAAACACAGACTTTCAAGATAAAAACTTAAACTCACTCAAACTCAGATTTGTGCATAAAAAATTATTGATATAACCGCCTACTACTTGCAATGTATAAAACCTGAATTAGCCAACAGAGGTCAGAATTGTGAGATAATGGATATAGAATTGTGCGCATATAAATAAAAGTCTGTAAATTAAAATACACAATTTTGGTCGTCAGATTTACGCATGCCAACAGGGTCAGCGTCTGATGTTATCCTGACCTCAGTTTTCAGCTCCAGCATTCTGCAGCTCTTCTTCTTCTCCTCTGCTGTGTGTGTGTTTTTAGGGTGTTCTAGAAAAGTCTGCAGTCTTCCACAGTTTCTACACTCGTGGCTCTCTCGATGGTGCCTGTTTAAACACTCCACTCCTCTTTCTGCTCGGCATGGTCTCCATCATCTTCCTCAGCATCATCATGCTGGTGCGCAGG[T/G]CAGATCCTCTACTGTTCTGATAATACACTGATAATTATTGATTCAAGAAAACATGCAGTTGTTGCTCGTGACCACTAAGTGGCGCTATAACTATAGACTATGTCACAGGTGTCAAACTCAGTTCCAAAAGCTCTGCACAGTTTAGTTCCAACCCTAATTAAACACACCTGATCAAACTAATTGAGTCCTTCAGGCTTGTTTGAAACCTACAGGTAAGTGTGTTGGAGCAGGGTTGGAAATAAACTGTGCAGAGCTTCGGCCCTCCAGGAATTGAGTTTGACACCCCTGTCATTAGATTTAGTTAAAGGCTTCATTTCTGCTAACATAATGAACCAGTATAGAAATCTAATATGTATATGGCAACATAGGATATAACGTATACACATAATTCATGTTCGGATTTCAAATTAATAAAAATATACTGAATATATTATAAATATACATACATTTCAAAATCTAACATTTTTACAATTATTGCTGCTATTATATATAATGTGTGT
Associated Phenotype:
Not determined