Incidental Mutation 'R9052:Rfxap'
ID 716098
Institutional Source Beutler Lab
Gene Symbol Rfxap
Ensembl Gene ENSMUSG00000036615
Gene Name regulatory factor X-associated protein
Synonyms 5730495K23Rik
MMRRC Submission 068878-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.120) question?
Stock # R9052 (G1)
Quality Score 43.0073
Status Validated
Chromosome 3
Chromosomal Location 54710536-54715212 bp(-) (GRCm39)
Type of Mutation unclassified
DNA Base Change (assembly) G to A at 54715155 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000149458 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000044373] [ENSMUST00000217267]
AlphaFold Q8VCG9
Predicted Effect probably benign
Transcript: ENSMUST00000044373
SMART Domains Protein: ENSMUSP00000040917
Gene: ENSMUSG00000036615

DomainStartEndE-ValueType
low complexity region 42 65 N/A INTRINSIC
low complexity region 74 98 N/A INTRINSIC
Pfam:RFXA_RFXANK_bdg 100 226 6.5e-64 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000217267
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.6%
Validation Efficiency 99% (69/70)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Major histocompatibility (MHC) class II molecules are transmembrane proteins that have a central role in development and control of the immune system. The protein encoded by this gene, along with regulatory factor X-associated ankyrin-containing protein and regulatory factor-5, forms a complex that binds to the X box motif of certain MHC class II gene promoters and activates their transcription. Once bound to the promoter, this complex associates with the non-DNA-binding factor MHC class II transactivator, which controls the cell type specificity and inducibility of MHC class II gene expression. Mutations in this gene have been linked to bare lymphocyte syndrome type II, complementation group D. Transcript variants utilizing different polyA signals have been found for this gene. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 69 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110059G10Rik T C 9: 122,778,031 (GRCm39) E71G probably damaging Het
2610021A01Rik G T 7: 41,275,449 (GRCm39) G384V probably benign Het
4931406B18Rik T A 7: 43,147,631 (GRCm39) R247* probably null Het
Abca4 G T 3: 121,940,908 (GRCm39) V1576F possibly damaging Het
Acsl6 A T 11: 54,232,615 (GRCm39) T489S possibly damaging Het
Adcy8 C T 15: 64,792,764 (GRCm39) R64H probably benign Het
Atad2b C A 12: 5,015,982 (GRCm39) F569L probably damaging Het
Atp2c1 A T 9: 105,330,032 (GRCm39) I266N probably damaging Het
Atp8a1 A G 5: 67,936,301 (GRCm39) probably null Het
Coch T C 12: 51,640,408 (GRCm39) M1T probably null Het
Col5a3 C A 9: 20,710,733 (GRCm39) R537L unknown Het
Crb1 C T 1: 139,171,161 (GRCm39) R743Q possibly damaging Het
Crybg2 T C 4: 133,803,035 (GRCm39) F889L probably damaging Het
Cyp4f15 C T 17: 32,911,589 (GRCm39) T157I probably damaging Het
D630045J12Rik G T 6: 38,154,544 (GRCm39) Q1212K probably damaging Het
Dennd1a A G 2: 37,911,463 (GRCm39) Y175H probably damaging Het
Dhcr7 C A 7: 143,395,060 (GRCm39) T192K possibly damaging Het
Dlg1 T A 16: 31,656,942 (GRCm39) I612N probably damaging Het
Dmpk G A 7: 18,821,614 (GRCm39) V291M probably damaging Het
Dnajc6 T C 4: 101,496,617 (GRCm39) V928A probably damaging Het
Dst A G 1: 34,206,045 (GRCm39) Y859C probably damaging Het
Dst C T 1: 34,236,411 (GRCm39) Q1592* probably null Het
Gm10226 T A 17: 21,910,959 (GRCm39) C65S possibly damaging Het
Helz2 T C 2: 180,881,968 (GRCm39) K275R possibly damaging Het
Hltf A G 3: 20,152,246 (GRCm39) T581A probably damaging Het
Ighv1-24 C T 12: 114,736,555 (GRCm39) C115Y probably damaging Het
Il18 C T 9: 50,489,090 (GRCm39) L40F possibly damaging Het
Isg20 A G 7: 78,566,390 (GRCm39) D113G probably damaging Het
Itgb3 A T 11: 104,524,413 (GRCm39) D183V probably damaging Het
Kif12 C T 4: 63,090,068 (GRCm39) V28M probably damaging Het
Manbal T C 2: 157,221,107 (GRCm39) L28P probably damaging Het
Masp1 T A 16: 23,339,350 (GRCm39) probably benign Het
Mfap5 A G 6: 122,501,463 (GRCm39) T72A probably benign Het
Mier2 G A 10: 79,384,274 (GRCm39) R166W probably damaging Het
Mrps5 G A 2: 127,433,876 (GRCm39) probably benign Het
Ms4a1 T A 19: 11,233,954 (GRCm39) T101S probably benign Het
Myo3b A G 2: 70,062,747 (GRCm39) M344V probably benign Het
Naaladl1 T G 19: 6,158,716 (GRCm39) F283V probably benign Het
Nacc1 A C 8: 85,403,377 (GRCm39) V166G probably damaging Het
Nwd2 A T 5: 63,961,773 (GRCm39) R452S probably damaging Het
Or1n1b T C 2: 36,780,105 (GRCm39) T252A probably damaging Het
Or1x6 G A 11: 50,938,938 (GRCm39) M1I probably null Het
Or5k16 T C 16: 58,736,561 (GRCm39) T148A probably benign Het
Or6c214 C G 10: 129,591,094 (GRCm39) C75S possibly damaging Het
Pik3cg T C 12: 32,245,708 (GRCm39) I847V possibly damaging Het
Plcz1 G A 6: 139,968,905 (GRCm39) H178Y probably damaging Het
Prkdc T A 16: 15,508,160 (GRCm39) M937K probably benign Het
Prr14l A T 5: 32,987,478 (GRCm39) C672* probably null Het
Rasl11a C A 5: 146,782,107 (GRCm39) D27E probably benign Het
Rbm27 T C 18: 42,465,893 (GRCm39) S860P probably damaging Het
Rhbdf2 A C 11: 116,494,758 (GRCm39) L306R probably benign Het
Rigi C A 4: 40,208,459 (GRCm39) V826L probably benign Het
Rnf123 A T 9: 107,936,930 (GRCm39) V875E probably damaging Het
Sh3bp2 A G 5: 34,709,164 (GRCm39) probably benign Het
Slc7a9 A G 7: 35,153,017 (GRCm39) K145R probably benign Het
Slco5a1 A T 1: 13,060,397 (GRCm39) V108E possibly damaging Het
Stat2 A G 10: 128,117,538 (GRCm39) E352G probably damaging Het
Synj1 A T 16: 90,735,728 (GRCm39) S1408R probably benign Het
Tent5c A T 3: 100,380,618 (GRCm39) I46K probably benign Het
Tgs1 T A 4: 3,585,166 (GRCm39) M102K probably benign Het
Tnfrsf11a G A 1: 105,754,854 (GRCm39) A309T possibly damaging Het
Ttc23 C A 7: 67,342,687 (GRCm39) C268* probably null Het
Uhrf2 T C 19: 30,070,236 (GRCm39) F795S probably damaging Het
Urgcp A G 11: 5,673,153 (GRCm39) W41R probably damaging Het
Uso1 G T 5: 92,328,422 (GRCm39) V340F probably damaging Het
Vta1 A C 10: 14,551,692 (GRCm39) I169R probably benign Het
Zfp317 A G 9: 19,556,568 (GRCm39) I59V probably benign Het
Zfp799 G A 17: 33,039,786 (GRCm39) T160I probably benign Het
Zfp955a G T 17: 33,461,279 (GRCm39) H284Q possibly damaging Het
Other mutations in Rfxap
AlleleSourceChrCoordTypePredicted EffectPPH Score
R1985:Rfxap UTSW 3 54,714,747 (GRCm39) missense probably damaging 1.00
R5157:Rfxap UTSW 3 54,711,938 (GRCm39) missense probably damaging 1.00
R6073:Rfxap UTSW 3 54,714,708 (GRCm39) missense probably damaging 1.00
R8914:Rfxap UTSW 3 54,715,042 (GRCm39) missense probably benign
Predicted Primers PCR Primer
(F):5'- ACCTCCAGTTTGACGTTGC -3'
(R):5'- CTAGGAATCGCTTGCGGATG -3'

Sequencing Primer
(F):5'- GCTTCTTGCACATCCAGGG -3'
(R):5'- AGTCGGTTCTGTCTCGCA -3'
Posted On 2022-07-18