Incidental Mutation 'R0370:Rfx2'
ID 65600
Institutional Source Beutler Lab
Gene Symbol Rfx2
Ensembl Gene ENSMUSG00000024206
Gene Name regulatory factor X, 2 (influences HLA class II expression)
Synonyms 5430432H19Rik
MMRRC Submission 038576-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.747) question?
Stock # R0370 (G1)
Quality Score 141
Status Not validated
Chromosome 17
Chromosomal Location 57082897-57138013 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 57106308 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 175 (E175G)
Ref Sequence ENSEMBL: ENSMUSP00000002444 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000002444] [ENSMUST00000086801]
AlphaFold P48379
Predicted Effect probably benign
Transcript: ENSMUST00000002444
AA Change: E175G

PolyPhen 2 Score 0.029 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000002444
Gene: ENSMUSG00000024206
AA Change: E175G

DomainStartEndE-ValueType
Pfam:RFX1_trans_act 4 149 1.9e-50 PFAM
Pfam:RFX_DNA_binding 192 269 4.3e-36 PFAM
Blast:HisKA 479 542 1e-31 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000086801
SMART Domains Protein: ENSMUSP00000084010
Gene: ENSMUSG00000024206

DomainStartEndE-ValueType
Pfam:RFX1_trans_act 1 151 6.8e-56 PFAM
Pfam:RFX_DNA_binding 161 246 6e-41 PFAM
Blast:HisKA 454 517 1e-31 BLAST
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.2%
  • 10x: 96.0%
  • 20x: 91.7%
Validation Efficiency
MGI Phenotype 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
Total: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Afg3l1 T C 8: 124,228,293 (GRCm39) S666P probably damaging Het
B3gntl1 A T 11: 121,514,980 (GRCm39) W263R probably damaging Het
Carmil3 A G 14: 55,732,899 (GRCm39) N270S possibly damaging Het
Ctdp1 T C 18: 80,492,569 (GRCm39) E642G probably damaging Het
Cyp2b9 A T 7: 25,909,531 (GRCm39) K433M probably damaging Het
Dcc A G 18: 71,721,056 (GRCm39) V435A possibly damaging Het
Defa26 A T 8: 22,108,875 (GRCm39) M87L probably benign Het
Dnah11 T A 12: 117,958,962 (GRCm39) I2974L probably benign Het
Dnah3 T C 7: 119,685,943 (GRCm39) D131G possibly damaging Het
Dock6 A T 9: 21,725,861 (GRCm39) S1447R probably benign Het
Dtl G T 1: 191,307,462 (GRCm39) N17K probably benign Het
Grid2 A G 6: 64,322,718 (GRCm39) I573V possibly damaging Het
Hoxa9 T C 6: 52,202,684 (GRCm39) E134G possibly damaging Het
Kcnn3 A T 3: 89,574,399 (GRCm39) N637I probably damaging Het
Ktn1 T C 14: 47,901,532 (GRCm39) F97L probably benign Het
Lmbrd2 T C 15: 9,165,939 (GRCm39) I271T probably damaging Het
Lrp6 A C 6: 134,456,729 (GRCm39) I845S probably damaging Het
Med13l T A 5: 118,879,891 (GRCm39) N994K probably benign Het
Mrrf A T 2: 36,067,125 (GRCm39) probably null Het
Mtmr1 G A X: 70,431,837 (GRCm39) V125I probably damaging Het
Nol8 C T 13: 49,815,923 (GRCm39) A677V possibly damaging Het
Or13g1 T A 7: 85,956,057 (GRCm39) N88I probably benign Het
Or51k1 T G 7: 103,661,266 (GRCm39) L214F probably damaging Het
Or8k3 A T 2: 86,059,057 (GRCm39) V86D probably damaging Het
Paxip1 C A 5: 27,965,084 (GRCm39) V659F probably damaging Het
Pclo T C 5: 14,571,104 (GRCm39) V163A probably damaging Het
Pkn3 T A 2: 29,977,184 (GRCm39) H641Q probably damaging Het
Plekhg6 G A 6: 125,347,623 (GRCm39) R444C probably damaging Het
Samd9l A C 6: 3,377,264 (GRCm39) probably benign Het
Sec14l5 A T 16: 4,998,570 (GRCm39) T537S probably damaging Het
Serpinb9d A G 13: 33,379,949 (GRCm39) E96G probably damaging Het
Setd4 T C 16: 93,388,006 (GRCm39) E160G probably damaging Het
Sf3b2 C T 19: 5,324,852 (GRCm39) D845N probably damaging Het
Slc16a4 A G 3: 107,208,413 (GRCm39) I308V possibly damaging Het
Slco2b1 T A 7: 99,339,644 (GRCm39) N100Y probably damaging Het
Sptbn1 A T 11: 30,071,545 (GRCm39) S1475R probably benign Het
Tecta T C 9: 42,278,100 (GRCm39) D1136G probably benign Het
Tmem94 G C 11: 115,679,543 (GRCm39) R273S probably damaging Het
Tns3 A G 11: 8,395,730 (GRCm39) S1225P possibly damaging Het
Ugt2b36 A G 5: 87,239,834 (GRCm39) Y184H probably benign Het
Vmn2r59 A T 7: 41,662,150 (GRCm39) M555K probably benign Het
Other mutations in Rfx2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01294:Rfx2 APN 17 57,090,657 (GRCm39) missense probably damaging 1.00
IGL01296:Rfx2 APN 17 57,115,317 (GRCm39) start codon destroyed possibly damaging 0.81
IGL01488:Rfx2 APN 17 57,112,398 (GRCm39) missense probably damaging 1.00
IGL01705:Rfx2 APN 17 57,092,303 (GRCm39) missense possibly damaging 0.88
IGL02389:Rfx2 APN 17 57,115,325 (GRCm39) splice site probably benign
IGL02601:Rfx2 APN 17 57,092,354 (GRCm39) missense possibly damaging 0.75
IGL02609:Rfx2 APN 17 57,112,404 (GRCm39) missense probably benign 0.00
R0066:Rfx2 UTSW 17 57,093,736 (GRCm39) splice site probably benign
R0066:Rfx2 UTSW 17 57,093,736 (GRCm39) splice site probably benign
R0197:Rfx2 UTSW 17 57,110,722 (GRCm39) missense probably damaging 0.99
R0413:Rfx2 UTSW 17 57,091,418 (GRCm39) splice site probably benign
R0622:Rfx2 UTSW 17 57,084,071 (GRCm39) missense probably damaging 0.99
R0883:Rfx2 UTSW 17 57,110,722 (GRCm39) missense probably damaging 0.99
R1429:Rfx2 UTSW 17 57,111,369 (GRCm39) missense probably damaging 0.97
R1439:Rfx2 UTSW 17 57,094,720 (GRCm39) missense probably damaging 1.00
R1569:Rfx2 UTSW 17 57,111,326 (GRCm39) missense possibly damaging 0.63
R1654:Rfx2 UTSW 17 57,115,263 (GRCm39) missense probably benign 0.00
R1751:Rfx2 UTSW 17 57,091,754 (GRCm39) missense probably benign 0.01
R1816:Rfx2 UTSW 17 57,115,305 (GRCm39) nonsense probably null
R2282:Rfx2 UTSW 17 57,110,722 (GRCm39) missense probably damaging 0.99
R3408:Rfx2 UTSW 17 57,110,526 (GRCm39) missense probably benign 0.00
R3962:Rfx2 UTSW 17 57,092,302 (GRCm39) missense probably damaging 0.99
R4415:Rfx2 UTSW 17 57,094,733 (GRCm39) missense possibly damaging 0.95
R4876:Rfx2 UTSW 17 57,091,706 (GRCm39) missense probably benign 0.00
R4883:Rfx2 UTSW 17 57,090,747 (GRCm39) missense probably damaging 0.98
R5588:Rfx2 UTSW 17 57,086,890 (GRCm39) missense possibly damaging 0.69
R5766:Rfx2 UTSW 17 57,110,587 (GRCm39) missense probably benign 0.02
R5798:Rfx2 UTSW 17 57,111,362 (GRCm39) missense possibly damaging 0.89
R5931:Rfx2 UTSW 17 57,087,778 (GRCm39) missense probably damaging 0.99
R6061:Rfx2 UTSW 17 57,084,473 (GRCm39) missense possibly damaging 0.86
R6466:Rfx2 UTSW 17 57,091,397 (GRCm39) missense probably benign 0.13
R6800:Rfx2 UTSW 17 57,087,804 (GRCm39) missense probably damaging 0.99
R7329:Rfx2 UTSW 17 57,110,681 (GRCm39) missense probably benign 0.05
R7476:Rfx2 UTSW 17 57,110,527 (GRCm39) missense probably benign 0.31
R8159:Rfx2 UTSW 17 57,110,605 (GRCm39) missense probably benign 0.43
R8274:Rfx2 UTSW 17 57,111,348 (GRCm39) missense probably benign 0.00
R8838:Rfx2 UTSW 17 57,087,877 (GRCm39) missense possibly damaging 0.91
R8964:Rfx2 UTSW 17 57,093,696 (GRCm39) missense probably damaging 1.00
R9663:Rfx2 UTSW 17 57,087,895 (GRCm39) missense possibly damaging 0.67
R9786:Rfx2 UTSW 17 57,087,890 (GRCm39) missense probably benign 0.31
Predicted Primers PCR Primer
(F):5'- TCGAGATAACTTGACCCCAGGGAC -3'
(R):5'- TGCATGGCACACAGCCTTGAAC -3'

Sequencing Primer
(F):5'- GGACATGTGCCATCACCAG -3'
(R):5'- TGCCTGCCTCTAACCATCTG -3'
Posted On 2013-08-08