ENSDARG00000058556

Ensembl ID:
ENSDARG00000058556
Human Orthologues:
MUC5AC, MUC6
Human Descriptions:
mucin 5AC, oligomeric mucus/gel-forming [Source:HGNC Symbol;Acc:7515]
mucin 6, oligomeric mucus/gel-forming [Source:HGNC Symbol;Acc:7517]
Mouse Orthologues:
Muc5ac, Muc5b, Muc6
Mouse Descriptions:
mucin 5, subtype B, tracheobronchial Gene [Source:MGI Symbol;Acc:MGI:1921430]
mucin 5, subtypes A and C, tracheobronchial/gastric Gene [Source:MGI Symbol;Acc:MGI:104697]
mucin 6, gastric Gene [Source:MGI Symbol;Acc:MGI:2663233]

Alleles

There are 4 alleles of this gene:

Allele name Consequence Status Availability Estimate
sa927 Nonsense Available for shipment Available now
sa25223 Essential Splice Site Mutation detected in F1 DNA During 2014
sa7537 Missense Mutation detected in F1 DNA During 2014
sa24614 Essential Splice Site Mutation detected in F1 DNA During 2014

Mutation Details

Allele Name:
sa927
Current Status:
Available for shipment
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
Mutation:
C > T
Consequence:
Nonsense
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000081428 Nonsense 231 1989 5 45
Genomic Location:
Chromosome 25 (position 8624003)
KASP Assay ID:
554-0832.1 (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
AATGTTACGGCAGCCATGACTGTCTGTGCAACACGCTAACAGAGATCTCA[C/T]GACAATGCACACATGCTGGAGGACAACCAGGAACATGGAGGACAGAACAG
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa25223
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 2014.
Mutation:
A > G
Consequence:
Essential Splice Site
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000081428 Essential Splice Site 790 1989 18 45
Genomic Location:
Chromosome 25 (position 8627475)
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
None
Flanking Sequence:
ATTGGTGCAAACCATTAAAAGGCTGAATCTATGAATTATGTCTATATTAC[A/G]GCACATGCAGAAATGGGATGTGGGATTGCACGGAAAAAGAGTGTTACGGC
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa7537
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 2014.
Mutation:
A > G
Consequence:
Missense
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000081428 Missense 1762 1989 38 45
Genomic Location:
Chromosome 25 (position 8648479)
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
TTTSTTCTGTCTAGTGCCGAAAGACGTTTGTGTGCACAATAACACTGAGT[A/G]TCAGGTGAGTTGYTGAGTTTATASTAACTAGTAACACCAACAGTAAAATG
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa24614
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 2014.
Mutation:
G > T
Consequence:
Essential Splice Site
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000081428 Essential Splice Site 1879 1989 41 45
Genomic Location:
Chromosome 25 (position 8649229)
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
None
Flanking Sequence:
AGAAGATCAAACCTAAATGCCCTGACTTTAATCCTGATGACTGTGAGGCT[G/T]TAAGTAGTGGTTGATAAGATATTACCATTAATCAAATTTCCACTTTGTTT
Associated Phenotype:
Not determined

Register

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* quick link - http://q.sanger.ac.uk/31ofmj4d