col6a1

Ensembl ID:
ENSDARG00000074908
ZFIN ID:
ZDB-GENE-070501-6
Human Orthologue:
COL6A1
Human Description:
collagen, type VI, alpha 1 [Source:HGNC Symbol;Acc:2211]
Mouse Orthologue:
Col6a1
Mouse Description:
collagen, type VI, alpha 1 Gene [Source:MGI Symbol;Acc:MGI:88459]

Alleles

There are 4 alleles of this gene:

Allele name Consequence Status Availability Estimate
sa949 Nonsense F2 line generated During 2014
sa4427 Nonsense Mutation detected in F1 DNA During 2014
sa21945 Essential Splice Site Mutation detected in F1 DNA During 2014
sa21944 Essential Splice Site Mutation detected in F1 DNA During 2014

Mutation Details

Allele Name:
sa949
Current Status:
F2 line generated
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:
C > T
Consequence:
Nonsense
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000110608 Nonsense 211 1010 7 38
Genomic Location:
Chromosome 11 (position 34896002)
KASP Assay ID:
554-0854.1 (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
CTTCCCAGGACACCAGACTGTCTGTCATTGCCACAGATATAAACTACAGA[C/T]AGAACTTCACCGCTGCAGACAACTCCCGCTCCACACAAATGAGCACTATA
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa4427
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:
Nonsense
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000110608 Nonsense 265 1010 11 38
Genomic Location:
Chromosome 11 (position 34894826)
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
CTCAGCATGTTCAGAGAACTTCYACCTAMCCTTTCCTTTTCYTGCAGGGA[G/T]AGACCGGGAGACCAGGCATGCCAGGAGAAAAAGGAGACTTTGGGGCTCAG
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa21945
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 > A
Consequence:
Essential Splice Site
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000110608 Essential Splice Site 368 1010 17 38
Genomic Location:
Chromosome 11 (position 34884907)
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
None
Flanking Sequence:
AATCAGGGCCTAAAGGAGACCCCGGACAATATGGACGCAAAGGAGAACGA[G/A]TAAGAGATGAGAACGAGTCTGTGTTTGAGTAAAATGTGCATTTGGATATT
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa21944
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
ENSDART00000110608 Essential Splice Site 814 1010 38 38
Genomic Location:
Chromosome 11 (position 34835832)
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
None
Flanking Sequence:
GTCAGCATTTTGACTTCGAGATATTAATGGTTTGCTTCTTCCTCTTCTTC[A/G]GTTTCATTTAATGACAACACCGATGTCCTCATCATGATGGACAGCTCGGC
Associated Phenotype:
Not determined

Register

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* quick link - http://q.sanger.ac.uk/vc7l7p8m