LOC566553

Ensembl ID:
ENSDARG00000059556
Human Orthologue:
RECQL5
Human Description:
RecQ protein-like 5 [Source:HGNC Symbol;Acc:9950]
Mouse Orthologue:
Recql5
Mouse Description:
RecQ protein-like 5 Gene [Source:MGI Symbol;Acc:MGI:2156841]

Alleles

There are 2 alleles of this gene:

Allele name Consequence Status Availability Estimate
sa5237 Nonsense Mutation detected in F1 DNA During 2014
sa2129 Nonsense F2 line generated During 2014

Mutation Details

Allele Name:
sa5237
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:
C > T
Consequence:
Nonsense
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000082886 Nonsense 252 934 4 19
Genomic Location:
Chromosome 3 (position 60428969)
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
GCTAAGCACCCACTTTTTNGCTTTTGCAGGGATGTGGGATTGTTTACTGT[C/T]GAACGCGAGAGAGTTGCGAGGAAGTGGCTCATAAGTTGACCAAATTAGGA
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa2129
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:
G > T
Consequence:
Nonsense
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000082886 Nonsense 856 934 17 19
ENSDART00000082886 Nonsense 856 934 17 19
Genomic Location:
Chromosome 3 (position 60400482)
KASP Assay ID:
554-3428.1 (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
CTCTGAATGGAGACGGTGCTGGGATCTCRAGGAAGYCTGTSACGCTCAAA[G/T]AAGCTGCWGACATMGTGGTGCGCTGCCTCGACCCCTTCTACAAACAAGGA
Associated Phenotype:
Not determined

Register

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* quick link - http://q.sanger.ac.uk/51doxwe3