itga11a

Ensembl ID:
ENSDARG00000036086
ZFIN ID:
ZDB-GENE-050324-1
Description:
integrin, alpha 11a [Source:RefSeq peptide;Acc:NP_001166098]
Human Orthologue:
ITGA11
Human Description:
integrin, alpha 11 [Source:HGNC Symbol;Acc:6136]
Mouse Orthologue:
Itga11
Mouse Description:
integrin alpha 11 Gene [Source:MGI Symbol;Acc:MGI:2442114]

Alleles

There are 5 alleles of this gene:

Allele name Consequence Status Availability Estimate
sa13635 Nonsense Available for shipment Available now
sa5427 Nonsense Mutation detected in F1 DNA During 2014
sa9327 Essential Splice Site Mutation detected in F1 DNA During 2014
sa18873 Essential Splice Site Mutation detected in F1 DNA During 2014
sa8272 Essential Splice Site Mutation detected in F1 DNA During 2014

Mutation Details

Allele Name:
sa13635
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
ENSDART00000052389 Nonsense 454 1228 11 30
ENSDART00000127081 Nonsense 416 1190 11 30
Genomic Location:
Chromosome 7 (position 34542221)
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
TAAAGGAGACTCGGCAAGGGAAAGTGGKTCCACCGAAWTCCTCCTATGAA[C/T]AAGAGTTCCCAGAAGAACTAAAGAACCATGGAGCCTACCTGGGTAAAAAA
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa5427
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 > T
Consequence:
Nonsense
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000052389 Nonsense 735 1228 17 30
ENSDART00000127081 Nonsense 697 1190 17 30
Genomic Location:
Chromosome 7 (position 34530527)
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
GCAAACATATTAAGTTCTAAAGCTATTTTCTTGCACTTCTCTTAGCTCTT[A/T]GAKACAGTGCTTTCTTTGAGGAGAARCGCTTYAACCCTCGGGCTGTATTT
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa9327
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 > C
Consequence:
Essential Splice Site
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000052389 Essential Splice Site 972 1228 23 30
ENSDART00000127081 Essential Splice Site 934 1190 23 30
ENSDART00000052389 Essential Splice Site 972 1228 23 30
ENSDART00000127081 Essential Splice Site 934 1190 23 30
Genomic Location:
Chromosome 7 (position 34523342)
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
GGTGAGTGYAAAAGCCTGTGAGGTTTCTCATRTTGTTGTCRTGTGTCTGC[A/C]GTGAAGGAGAAGAAGTCATCCTCTATGAYAACTCCAATGAAATTTTCTAC
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa18873
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 > C
Consequence:
Essential Splice Site
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000052389 Essential Splice Site 972 1228 23 30
ENSDART00000127081 Essential Splice Site 934 1190 23 30
ENSDART00000052389 Essential Splice Site 972 1228 23 30
ENSDART00000127081 Essential Splice Site 934 1190 23 30
Genomic Location:
Chromosome 7 (position 34523342)
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
None
Flanking Sequence:
GGTGAGTGTAAAAGCCTGTGAGGTTTCTCATATTGTTGTCATGTGTCTGC[A/C]GTGAAGGAGAAGAAGTCATCCTCTATGATAACTCCAATGAAATTTTCTAC
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa8272
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:
T > G
Consequence:
Essential Splice Site
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000052389 Essential Splice Site 1133 1228 27 30
ENSDART00000127081 Essential Splice Site 1095 1190 27 30
Genomic Location:
Chromosome 7 (position 34519983)
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
CGTCAGCGTGAAGATCGGCGGATCCCTCCGTACTGATGCACTGCATGCGG[T/G]GAGCAGCTWTGACACTGAAATAACAGTCTGATRTAGATGAAGTAGTGCAR
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/.)

Register

If you would like to be informed when the status of this gene changes (for example, a new allele is generated or an allele is made available for distribution) then please enter your details below:

* quick link - http://q.sanger.ac.uk/nfbx89jt