tmem57b

Ensembl ID:
ENSDARG00000012741
ZFIN ID:
ZDB-GENE-040426-1188
Description:
macoilin [Source:RefSeq peptide;Acc:NP_956757]
Human Orthologue:
TMEM57
Human Description:
transmembrane protein 57 [Source:HGNC Symbol;Acc:25572]
Mouse Orthologue:
Tmem57
Mouse Description:
transmembrane protein 57 Gene [Source:MGI Symbol;Acc:MGI:1913396]

Alleles

There are 3 alleles of this gene:

Allele name Consequence Status Availability Estimate
sa22376 Essential Splice Site, Missense Available for shipment Available now
sa6330 Nonsense Mutation detected in F1 DNA During 2016
sa42293 Nonsense Mutation detected in F1 DNA During 2016

Mutation Details

Allele Name:
sa22376
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:
A > T
Consequence:
Essential Splice Site, Missense
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000019113 Essential Splice Site 35 214 None 7
ENSDART00000074567 Missense 49 699 2 11
Genomic Location (Zv9):
Chromosome 13 (position 46155633)
Other Location(s):
Assembly Chromosome Position
GRCz10 13 45398541
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
None
Flanking Sequence:
GAAGTTTCTGGTGGTCTGGGCGCTGGTGCTGCTGGCAGACTTTGTGTTGG[A/T]GTTTCGCTTCGAGTACCTCTGGCCTTTCTGGCTCTTTATTCGCAGTGTTT
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa6330
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 2016.
Mutation:
T > A
Consequence:
Nonsense
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000019113 Nonsense 76 214 4 7
ENSDART00000074567 Nonsense 91 699 3 11
Genomic Location (Zv9):
Chromosome 13 (position 46160819)
Other Location(s):
Assembly Chromosome Position
GRCz10 13 45403727
KASP Assay ID:
554-4713.1 (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
GCTTTCTCAGTGTTTTTTGTGTGTGTGKCATTCACATCAGATATTATATG[T/A]CTGCTGTTCATCCCAGTACAGTGGCTGTTCTTTGCAGCCAGCACATACGT
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa42293
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 2016.
Mutation:
C > T
Consequence:
Nonsense
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000019113   None 214 None 7
ENSDART00000074567 Nonsense 433 699 7 11
Genomic Location (Zv9):
Chromosome 13 (position 46185477)
Other Location(s):
Assembly Chromosome Position
GRCz10 13 45428385
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
None
Flanking Sequence:
GTGTGTGTGTCAGGCTGGAGCAGGATGTTAAGAAGCTGAAGGCAGATCTG[C/T]AGGCCAGCAGACAGACCGAACAGGATCTGCGCAGTCAGCTGGGCTCTCTG
Associated Phenotype:
Not determined

GWAS

This gene's human homologue has been identified in the following GWAS studies:

(GWAS data comes from http://www.genome.gov/gwastudies/.)

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