hmcn2

Ensembl ID:
ENSDARG00000079327
ZFIN ID:
ZDB-GENE-030131-9765
Human Orthologues:
HMCN2, RP11-88G17.6
Human Descriptions:
hemicentin 2 [Source:HGNC Symbol;Acc:21293]
Novel protein similar to hemicentin (LOC392395) [Source:UniProtKB/TrEMBL;Acc:A2A3K3]
Mouse Orthologue:
Hmcn2
Mouse Description:
hemicentin 2 Gene [Source:MGI Symbol;Acc:MGI:2677838]

Alleles

There are 3 alleles of this gene:

Allele name Consequence Status Availability Estimate
sa7144 Nonsense Mutation detected in F1 DNA During 2015
sa27237 Essential Splice Site Mutation detected in F1 DNA During 2015
sa16664 Nonsense Available for shipment Available now

Mutation Details

Allele Name:
sa7144
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 2015.
Mutation:
C > T
Consequence:
Nonsense
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000112067 Nonsense 1732 2925 35 56
ENSDART00000137897   None 815 None 15
ENSDART00000138117   None 89 None 3
ENSDART00000142824 Nonsense 18 122 1 2
ENSDART00000145362   None 158 None 4
ENSDART00000147594   None 294 None 6
Genomic Location:
Chromosome 8 (position 33595703)
KASP Assay ID:
554-4587.1 (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
AGTTTTCACGTGTTACTCTTGGAGATGCAGGAACATATCAGTGTTTAGCA[C/T]AGAATGAAGCAGGAACAGCTTTGGCACAAACCCAGCTTATAKTRCAAGGT
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa27237
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 2015.
Mutation:
T > G
Consequence:
Essential Splice Site
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000112067 Essential Splice Site 2303 2925 45 56
ENSDART00000137897 Essential Splice Site 193 815 4 15
ENSDART00000138117   None 89 None 3
ENSDART00000142824   None 122 None 2
ENSDART00000145362   None 158 None 4
ENSDART00000147594   None 294 None 6
Genomic Location:
Chromosome 8 (position 33605729)
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
None
Flanking Sequence:
CAATGGATTTGTTCCTCCTATGCTTTTGTCCTCTAATCTCAATCTACAGG[T/G]AAGTTTTTCAAACTCAAATGTGTAAAGTAAATCTCAGCAGGCATTACTTC
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa16664
Current Status:
Available for shipment
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
Mutation:
A > T
Consequence:
Nonsense
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000112067 Nonsense 2885 2925 56 56
ENSDART00000137897 Nonsense 775 815 15 15
ENSDART00000138117   None 89 None 3
ENSDART00000142824   None 122 None 2
ENSDART00000145362   None 158 None 4
ENSDART00000147594   None 294 None 6
Genomic Location:
Chromosome 8 (position 33632787)
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
GGCCATTTGGCATCAAGGATGAAGCAGGAAGAGGCATCATTTTCACAGTR[A/T]AGCCTTTAGACTGGCCAGGCCTGGTGCGACTTSGGGTACAAGCCACAACT
Associated Phenotype:
Not determined

Register

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* quick link - http://q.sanger.ac.uk/5o77n3yy