|Institutional Source||Beutler Lab|
|Gene Name||regulatory factor X, 2 (influences HLA class II expression)|
|Is this an essential gene?||Possibly essential (E-score: 0.738)|
|Stock #||R0413 (G1)|
|Chromosomal Location||56775897-56831008 bp(-) (GRCm38)|
|Type of Mutation||splice site|
|DNA Base Change (assembly)||A to G at 56784418 bp (GRCm38)|
|Amino Acid Change|
|Ref Sequence||ENSEMBL: ENSMUSP00000084010 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000002444] [ENSMUST00000086801]|
|Meta Mutation Damage Score||0.0898|
|Coding Region Coverage||
|Validation Efficiency||99% (99/100)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a member of the regulatory factor X gene family, which encodes transcription factors that contain a highly-conserved winged helix DNA binding domain. The protein encoded by this gene is structurally related to regulatory factors X1, X3, X4, and X5. It is a transcriptional activator that can bind DNA as a monomer or as a heterodimer with other RFX family members. This protein can bind to cis elements in the promoter of the IL-5 receptor alpha gene. Two transcript variants encoding different isoforms have been described for this gene, and both variants utilize alternative polyadenylation sites. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a gene trapped allele are viable and lack an obvious embryonic phenotype but exhibit male infertility associated with a defect in spermatid maturation at or before the round and elongating spermatid stage. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Rfx2||
(F):5'- CCTTGGGATTAAACTGGGGAGCAC -3'
(R):5'- GAGAGCGTCACCCTTCATGATGTG -3'
(F):5'- CACATGGGCTGAGTCTGC -3'
(R):5'- TCATGATGTGAAGGCCCTGC -3'