Busch Lab

ZMP

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 5 alleles of this gene:

Allele Name Consequence Status Availability
sa14019 Nonsense Available for shipment Available now
sa31644 Nonsense Available for shipment Available now
sa21260 Nonsense Available for shipment Available now

Mutation Details

Allele Name:
sa14019
Status:
Available for shipment
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
Order Allele From ZIRC
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Mutation:
T > A
Consequence:
Nonsense
Transcripts:
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 (Zv9):
Chromosome 8 (position 20638559)
Other Location(s):
Assembly Chromosome Position
GRCz10 8 20068456
GRCz11 8 20100541
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
TCTTATAAYCCAGAGTCCCAGCTATATGGTCAGGGCAGTGGAAGTGCCTA[T/A]TTCGACTCTCAGGCGGGTGGTGCTCAGGTAACCACAGTCGTCTCTTCTGG
Long Flanking Sequence:
ATCCGCCATTTTGTCATGATCACATGACCTGTCTGCGTCAGTTGCATCACTTCACTCCCATTTCTGAGTTCTCTCGTAAGGCATCATAAGATAGCGTAGAATACATCATATGCACACTTTAGAATTTCACCGGAAGTAGTACGTCATCTGGGTACTTCTCGCATACTGTTTTTTGTATTCTATGATTTTGGACATACTATTCGGCTCGCATACTGTTTTTAGTGTAATGTATAGTATGAACATATGTGATTTCGGACACAGCCAAGGAAAAATGTGTAGAGCTGGTGATCCTCCAGGTACGTGGTTGAGAAACAAATTCACCTGTTTTAAGGTTGTTAAAAAGTTAAAGTCAATAGTTGATTATTTTGAAATGAGTTATTTTGAAAATCGAGACAATAGTTAAAACTAAACACGCCTGTATTTTTATCCTTCTTCAGTCGTGCTGCATACTCTTATAACCCAGAGTCCCAGCTATATGGTCAGGGCAGTGGAAGTGCCTA[T/A]TTCGACTCTCAGGCGGGTGGTGCTCAGGTAACCACAGTCGTCTCTTCTGGTGGAGTGCCCACTCATGGCATGGTGGGAATTGCTATGGATGTGGGTGGCAGTCAGATCATTTCCAGCGGCAGCGCCTACCTGATCCACGGCGGGATGGAAGGTGGCCGCCACCACACCTCTCACTCCTCACGCTCATCATCTGCAATGGTACGTTCCACTGTGCTTAAGTCCTGAACATGGGAGTAACATGGGAGGGGAGTTTGGGGAGCTGTGGTTTAGAAAATGAGCACAGCCTAATAATGCTATATTCCAGATGAGGTGTGACAGGAATGTACAGAGATATGTTTACATGGTCAAAAACAATGACTTATCCCTCAGTTTGCGAAATCTCCCCAAAAAGTTGCGCTTCCAGTTATCACACTAAATGTGTATGCATTGCATCATTATTGCCACTAATATTAAACATTATTGCAGAGTTGGTTTTCCCCTAAATGAAACTTTGTTTATGT
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa31644
Status:
Available for shipment
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
Order Allele From ZIRC
Mutation:
G > A
Consequence:
Nonsense
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000029939 Nonsense 403 734 11 18
ENSDART00000122943 Nonsense 403 738 10 18
ENSDART00000132218 None None 189 None 6
ENSDART00000133141 None None 234 None 7
ENSDART00000147634 None None 170 None 5
Genomic Location (Zv9):
Chromosome 8 (position 20622040)
Other Location(s):
Assembly Chromosome Position
GRCz10 8 20051937
GRCz11 8 20084022
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
ACTCTGGATGTTGTGATGAACCTGCAATTTCATCTCATAGAGAAGCTGTG[G/A]CAGACCTTTTGGCATTCAACAGCGCCCTCTAGTGACGGAGCCACTACCAT
Long Flanking Sequence:
AAAAAAACTTTTAATACAAAAATAATTTGAACATATTGTCCTGCAGTCTGTCACCTTAAACAGAACCTGAAATGAAGTTGAATTTATATATGTGGCTAGTGTTGTGCAACCATTTAGGCAGTTTCTATAAGAAGGTGGGTTGCTTTGAAGATGCTGCTTCAGAATGAGGAGCGAATGAGTTTTGATGGATGGCCGTATTATGAGTGGGCCAAATTCAAGATGAGCCATCAGGAAAGACAAAAGACACTTCAAATAATGGAGGAACACTCATCTCTCACACTCTATATTCATGAGATCTTCCTACAGCCCCCCAAAACACAGCTTTTGTTCCGGAATCATTTGTAATTTTGTTGTTATTGTGTTATCAGGAGAAACATTTTTCCTGTTTAAATGATTTTAATGCACACAAGAAACTTTGTTATAATAAACCTGATTTCTCTCCTTTAGGCTACTCTGGATGTTGTGATGAACCTGCAATTTCATCTCATAGAGAAGCTGTG[G/A]CAGACCTTTTGGCATTCAACAGCGCCCTCTAGTGACGGAGCCACTACCATACCTAACAGGTGCCATGTCTATACAGTTCATAGTTAAAGTAAAAAGGAACGCAACAATTAAAAAACAAAACTCACGCTCATGGAAAACCTGAAAGCATCTAGGATTTTTTTTAAATAATTTGGTGATCTTAGAAAATAATCAACATTTTAAAATATCATTTTTTTTGGTATGATCTGCTATTAAATATAAGCTACTGTAATGTTCCAAAGTTCAAGGTCATTGATATTGCCAATGTTGCATTTGTTATATTATAGTAATACATATATTATATTATAATATTTTATATTATATTATATTACATTATATTATATTACGTTATATTATATTATGTTATATTATGTTATATTATATTATATGTAAAGCTGTAAAAATATTATTACAACGTAAAATAAAAATTACCAAAAACAATCTAAAAACCAAAAACACTGTCAAAACACACCAGTGCTCTA
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa21260
Status:
Available for shipment
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
Order Allele From ZIRC
Mutation:
G > A
Consequence:
Nonsense
Transcripts:
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 (Zv9):
Chromosome 8 (position 20612354)
Other Location(s):
Assembly Chromosome Position
GRCz10 8 20042251
GRCz11 8 20074336
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
AGCGTGTGTCTCCTTTAGGTTTTCTGCGACTGTGAAGCAAGAATGTGCTG[G/A]TTTGGTGGCGTGTGGTTTATTTTTCATGTGCCATAGTCTTCTTTCAGTGC
Long Flanking Sequence:
GTCTTGGAAAATGTCTAGTCAAATATTATTTACTCTCATCATGACAAAGAAAAAATAAATCACTTATTAGATATAATATAACTATTATATTTAGAAATGTGTTGAAAAAATCTTCTATAAATATATATTAATGTTTTTCTGTTTATTTTCAGTTCAGTGACCTCAGTTCATTAATGCCATCCCTCAAGGAGCAAGGTAACCCATTCAAACCCCAGCCTAAAATATTGCATTGATTTTGAAGTCTCGTCTTCTCTTCTATTAAACCTCTCTCTCTGTTTTCCCGCATAGACACTTCATTCTCAGACGACATGACCAGCGATGGAGACATGTCGAGGATGAGCGAGAGAAGCCTGACTGAACCAGCGGTAAAGAGAGAAAGAATCGAGATCCCTCACTCCCTGCAGGAGATCTAACAGACACAAACGTCATCTCCGTCTTTAGAGTAGGGTCAGCGTGTGTCTCCTTTAGGTTTTCTGCGACTGTGAAGCAAGAATGTGCTG[G/A]TTTGGTGGCGTGTGGTTTATTTTTCATGTGCCATAGTCTTCTTTCAGTGCCTTAGATGAGAAAAGAAACACTAGAGCTTTCTCTTTGACCTTCTGTCGTTTTCCTCGGCCGTGCCTCCAACCGCAGGATGAATGTATCGTCTATGAACCTCAGATGTCTAAAGCACCTTTTTAAACGGCAGCCACTTTTATTTTTTCCCTCTCTCAGACGTAGATGCAACCTGCTGACCCCAAAGCCGCCCGTTTTCAGCCTCCACCCAAAACTTGCTGCAACACGAGAAAAGCCTTCAGAAGCATCCGTTTGATGAGAGCTCTGGCCGTATGAGATGCCTAGTCTATACCTCAAAGCATTCGTAGGTTTAATCAATTGACGTCCAGCTTTTATGATGTTTTCTAATGAGATGAGTGGATTTGGAAGCCCCGCGCTGTTGTTGGAAAGCTCTCGGGATGTATATAAACAGATTCCGTTGGTCGTTATTGCTCGAGCAAAGCAGAAATGGT
Associated Phenotype:
Not determined