|Institutional Source||Beutler Lab|
|Gene Name||regulatory factor X, 4 (influences HLA class II expression)|
|Is this an essential gene?||Essential (E-score: 1.000)|
|Stock #||R4231 (G1)|
|Chromosomal Location||84756062-84906538 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to T at 84814694 bp (GRCm38)|
|Amino Acid Change||Methionine to Leucine at position 84 (M84L)|
|Ref Sequence||ENSEMBL: ENSMUSP00000051107 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000060397]|
AA Change: M84L
PolyPhen 2 Score 0.025 (Sensitivity: 0.95; Specificity: 0.81)
AA Change: M84L
|Meta Mutation Damage Score||0.1419|
|Coding Region Coverage||
|Validation Efficiency||99% (75/76)|
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, X2, X3, and X5. It has been shown to interact with itself as well as with regulatory factors X2 and X3, but it does not interact with regulatory factor X1. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2011]
PHENOTYPE: Inactivating null allele or homozygous point mutation alleles exhibit missing dorsal midline structure of the cortex including the subcommissural organ and neonatal lethality. Heterozygous null mice have congenital hydrocephalus. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Rfx4||
(F):5'- ACTCTTTTGTATATGCCCAGCAG -3'
(R):5'- GTACCATGGAGTCCTTTTGCC -3'
(F):5'- GCTCGGTCCACAGGTAATACTATG -3'
(R):5'- ACAAAGCCCTTGGTGACTG -3'