si:dkey-229d2.1

Ensembl ID:
ENSDARG00000056386
ZFIN ID:
ZDB-GENE-060526-261
Description:
Novel protein similar to vertebrate transmembrane channel family [Source:UniProtKB/TrEMBL;Acc:A2BFV3
Human Orthologue:
TMC1
Human Description:
transmembrane channel-like 1 [Source:HGNC Symbol;Acc:16513]
Mouse Orthologue:
Tmc1
Mouse Description:
transmembrane channel-like gene family 1 Gene [Source:MGI Symbol;Acc:MGI:2151016]

Alleles

There are 4 alleles of this gene:

Allele name Consequence Status Availability Estimate
sa40426 Nonsense Mutation detected in F1 DNA During 2018
sa11855 Nonsense Available for shipment Available now
sa26471 Nonsense Mutation detected in F1 DNA During 2018
sa807 Nonsense Available for shipment Available now

Mutation Details

Allele Name:
sa40426
Current Status:
Mutation detected in F1 DNA
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
We currently estimate that this allele will be available during 2018.
Mutation:
T > A
Consequence:
Nonsense
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000098446 Nonsense 397 720 13 20
ENSDART00000131515 Nonsense 351 733 9 17
Genomic Location (Zv9):
Chromosome 5 (position 27305514)
Other Location(s):
Assembly Chromosome Position
GRCz10 5 25060812
GRCz11 5 25660965
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
None
Flanking Sequence:
GGAATGTTCTGCCCGATGCTGTTCGATGTGATCAGCACTTTGGAGAACTA[T/A]CACCCACGCATTGCCCTCCAGTGGCAGCTGGGACGCATCTTTGCTCTTTT
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa11855
Current 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:
T > A
Consequence:
Nonsense
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000098446 Nonsense 557 720 17 20
ENSDART00000131515 Nonsense 511 733 13 17
Genomic Location (Zv9):
Chromosome 5 (position 27302864)
Other Location(s):
Assembly Chromosome Position
GRCz10 5 25058162
GRCz11 5 25658315
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
TTTGTTAATCTGTGTGTTTGTTTCAGGATGGGTGCATTCTACGCWCCATG[T/A]CTTCCAGCACTAAATCTTCTTCGTCTTCACGTGTCTATGTACCTGCAGTG
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa26471
Current Status:
Mutation detected in F1 DNA
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
We currently estimate that this allele will be available during 2018.
Mutation:
A > T
Consequence:
Nonsense
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000098446 Nonsense 692 720 19 20
ENSDART00000131515 Nonsense 646 733 15 17
Genomic Location (Zv9):
Chromosome 5 (position 27300825)
Other Location(s):
Assembly Chromosome Position
GRCz10 5 25056123
GRCz11 5 25656276
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
None
Flanking Sequence:
ATTACCTGCAGTCCACTTCGAAAACGTATAAAAGAGTAAACATGGAGCTG[A/T]AAAAGAAACTTCAAGCAGTAAGTTCAAACCTTAGATTTCAAACGGGAAAA
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa807
Current 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:
C > T
Consequence:
Nonsense
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000098446 Nonsense 698 720 20 20
ENSDART00000131515 Nonsense 652 733 16 17
Genomic Location (Zv9):
Chromosome 5 (position 27298017)
Other Location(s):
Assembly Chromosome Position
GRCz10 5 25053315
GRCz11 5 25653468
KASP Assay ID:
554-0712.1 (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
AAAAANTCAACAGGTCATGTTTAGTCATATATCCAATTTTGTATTGACAG[C/T]AAAATGAGGAAAACAAGAAAAAGAACAAACTTGCAGCCTTAAAAGCAGCC
Associated Phenotype:
Not determined

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