rfx2

Ensembl ID:
ENSDARG00000013575
ZFIN ID:
ZDB-GENE-050227-4
Description:
DNA-binding protein RFX2 [Source:UniProtKB/Swiss-Prot;Acc:Q5EAP5]
Human Orthologue:
RFX2
Human Description:
regulatory factor X, 2 (influences HLA class II expression) [Source:HGNC Symbol;Acc:9983]
Mouse Orthologue:
Rfx2
Mouse Description:
regulatory factor X, 2 (influences HLA class II expression) Gene [Source:MGI Symbol;Acc:MGI:106583]

Alleles

There are 4 alleles of this gene:

Allele name Consequence Status Availability Estimate
sa14019 Nonsense Available for shipment Available now
sa3649 Nonsense Mutation detected in F1 DNA During 2014
sa5475 Essential Splice Site Mutation detected in F1 DNA During 2014
sa21260 Nonsense Mutation detected in F1 DNA During 2014

Mutation Details

Allele Name:
sa14019
Current Status:
Available for shipment
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
Mutation:
T > A
Consequence:
Nonsense
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000029939 Nonsense 113 734 5 18
ENSDART00000122943 Nonsense 113 738 4 18
ENSDART00000132218 Nonsense 83 189 4 6
ENSDART00000133141 Nonsense 83 234 5 7
ENSDART00000147634 Nonsense 83 170 4 5
Genomic Location:
Chromosome 8 (position 20638559)
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
TCTTATAAYCCAGAGTCCCAGCTATATGGTCAGGGCAGTGGAAGTGCCTA[T/A]TTCGACTCTCAGGCGGGTGGTGCTCAGGTAACCACAGTCGTCTCTTCTGG
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa3649
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
ENSDART00000029939 Nonsense 377 734 10 18
ENSDART00000122943 Nonsense 377 738 9 18
ENSDART00000132218 None None 189 None 6
ENSDART00000133141 None None 234 None 7
ENSDART00000147634 None None 170 None 5
Genomic Location:
Chromosome 8 (position 20629731)
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
GCTCCTGTCCTCTGCCGGAGTCCATCAGCATGACTGATGTGAAAAAACTA[C/T]AGAGCAGCTACAGGATTCACTGTGAGGTAAATTGTAGTTGTAGGATTTTT
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa5475
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
ENSDART00000029939 Essential Splice Site 680 734 17 18
ENSDART00000122943 Essential Splice Site 680 738 16 18
ENSDART00000132218 None None 189 None 6
ENSDART00000133141 None None 234 None 7
ENSDART00000147634 None None 170 None 5
Genomic Location:
Chromosome 8 (position 20612703)
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
TTGAAAAAANTCTTCTATAAATATATATTAATGTTTTTCNTGTTTATTTTCA[G/A]TTCAGTGACCTCAGTTCATTAATGCCATCCCTCAAGGAGCAAGGTAACCC
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa21260
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:
Nonsense
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000029939 None None 734 18 18
ENSDART00000122943 Nonsense 727 738 18 18
ENSDART00000132218 None None 189 None 6
ENSDART00000133141 None None 234 None 7
ENSDART00000147634 None None 170 None 5
Genomic Location:
Chromosome 8 (position 20612354)
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
None
Flanking Sequence:
AGCGTGTGTCTCCTTTAGGTTTTCTGCGACTGTGAAGCAAGAATGTGCTG[G/A]TTTGGTGGCGTGTGGTTTATTTTTCATGTGCCATAGTCTTCTTTCAGTGC
Associated Phenotype:
Not determined

Register

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* quick link - http://q.sanger.ac.uk/e4idxbrh