Incidental Mutation 'R1569:Rfx2'
ID 256144
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 039608-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.747) question?
Stock # R1569 (G1)
Quality Score 33
Status Validated
Chromosome 17
Chromosomal Location 57082897-57138013 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 57111326 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Asparagine at position 82 (I82N)
Ref Sequence ENSEMBL: ENSMUSP00000084010 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000002444] [ENSMUST00000086801]
AlphaFold P48379
Predicted Effect possibly damaging
Transcript: ENSMUST00000002444
AA Change: I82N

PolyPhen 2 Score 0.630 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000002444
Gene: ENSMUSG00000024206
AA Change: I82N

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 possibly damaging
Transcript: ENSMUST00000086801
AA Change: I82N

PolyPhen 2 Score 0.630 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000084010
Gene: ENSMUSG00000024206
AA Change: I82N

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
Meta Mutation Damage Score 0.1795 question?
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.1%
  • 10x: 95.6%
  • 20x: 90.3%
Validation Efficiency 96% (72/75)
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: 67 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2010315B03Rik T A 9: 124,056,427 (GRCm39) K166* probably null Het
Abca2 T A 2: 25,329,197 (GRCm39) N1012K probably benign Het
Ahnak T C 19: 8,981,458 (GRCm39) V914A possibly damaging Het
Akap1 T A 11: 88,724,006 (GRCm39) M833L probably benign Het
Atp2b1 T A 10: 98,823,188 (GRCm39) H249Q probably benign Het
Atp6v0a4 A G 6: 38,027,560 (GRCm39) V750A probably damaging Het
Car6 T C 4: 150,285,499 (GRCm39) Y23C probably damaging Het
Celsr3 A G 9: 108,706,267 (GRCm39) T917A probably damaging Het
Clmn C A 12: 104,747,340 (GRCm39) D736Y probably damaging Het
Dclk2 C T 3: 86,712,946 (GRCm39) R503Q possibly damaging Het
Dennd4c G A 4: 86,704,331 (GRCm39) R282H possibly damaging Het
Dsg1b T A 18: 20,529,537 (GRCm39) N327K probably damaging Het
Eftud2 A T 11: 102,745,597 (GRCm39) probably benign Het
Esyt1 G T 10: 128,354,863 (GRCm39) S512R possibly damaging Het
Fam124b T C 1: 80,190,852 (GRCm39) Y177C possibly damaging Het
Fbxl5 A T 5: 43,922,803 (GRCm39) I205K probably damaging Het
Fcrl1 A G 3: 87,292,012 (GRCm39) Y57C probably damaging Het
Gabpb1 A T 2: 126,494,171 (GRCm39) D151E probably benign Het
Gcc2 C T 10: 58,105,993 (GRCm39) L310F probably benign Het
Hsd11b1 C G 1: 192,922,635 (GRCm39) E141Q probably damaging Het
Htr1b A G 9: 81,514,340 (GRCm39) V89A probably benign Het
Ibsp A T 5: 104,458,017 (GRCm39) T185S probably damaging Het
Igfn1 T C 1: 135,896,771 (GRCm39) D1265G probably benign Het
Ints9 T C 14: 65,217,571 (GRCm39) Y33H possibly damaging Het
Kif1a A T 1: 92,986,532 (GRCm39) probably benign Het
Lama1 A T 17: 68,087,613 (GRCm39) probably null Het
Lbp A T 2: 158,161,607 (GRCm39) D223V probably damaging Het
Lck C A 4: 129,449,449 (GRCm39) D283Y probably damaging Het
Lcmt2 A G 2: 120,970,309 (GRCm39) F258S probably damaging Het
Lsg1 G T 16: 30,399,823 (GRCm39) probably null Het
Maip1 T C 1: 57,452,554 (GRCm39) probably benign Het
Mark3 T G 12: 111,600,180 (GRCm39) I465S probably benign Het
Marveld2 C T 13: 100,737,506 (GRCm39) V128I probably benign Het
Mcm3ap A G 10: 76,319,022 (GRCm39) H750R possibly damaging Het
Mdn1 A T 4: 32,723,501 (GRCm39) Q2479L probably null Het
Met A T 6: 17,531,503 (GRCm39) K594* probably null Het
Pak2 G T 16: 31,856,113 (GRCm39) S241R probably damaging Het
Plxna4 T C 6: 32,162,410 (GRCm39) I1368V possibly damaging Het
Pparg T C 6: 115,416,960 (GRCm39) I51T probably benign Het
Ppp1r18 A G 17: 36,179,595 (GRCm39) E62G probably damaging Het
Prkag2 T C 5: 25,152,475 (GRCm39) S86G possibly damaging Het
Rabgap1l A T 1: 160,529,960 (GRCm39) I347K probably benign Het
Rdh1 A T 10: 127,598,941 (GRCm39) M141L probably benign Het
Sh2b2 G A 5: 136,260,589 (GRCm39) A209V possibly damaging Het
Sh3d19 G A 3: 86,033,951 (GRCm39) R768H possibly damaging Het
Sh3rf1 C T 8: 61,837,896 (GRCm39) P814S probably damaging Het
Shbg T A 11: 69,508,415 (GRCm39) probably benign Het
Slc15a2 T C 16: 36,576,745 (GRCm39) T430A probably benign Het
Slc17a3 A T 13: 24,039,591 (GRCm39) I250F probably benign Het
Snrnp40 C G 4: 130,271,836 (GRCm39) probably null Het
Spg11 A G 2: 121,932,187 (GRCm39) S552P probably damaging Het
Srpk2 A G 5: 23,719,024 (GRCm39) I597T probably damaging Het
St6galnac1 T G 11: 116,660,097 (GRCm39) N72T possibly damaging Het
Tecpr2 T A 12: 110,911,321 (GRCm39) probably null Het
Tmem208 T A 8: 106,061,462 (GRCm39) C163S possibly damaging Het
Tpte T C 8: 22,835,047 (GRCm39) V401A probably damaging Het
Trhde A G 10: 114,282,093 (GRCm39) W795R possibly damaging Het
Trpm3 G A 19: 22,866,809 (GRCm39) probably null Het
Ttn T A 2: 76,626,063 (GRCm39) T14999S possibly damaging Het
Txndc2 A T 17: 65,945,921 (GRCm39) N85K probably benign Het
Yes1 A G 5: 32,810,507 (GRCm39) Y192C probably damaging Het
Zan A G 5: 137,427,392 (GRCm39) V2415A unknown Het
Zfp410 T A 12: 84,379,726 (GRCm39) C311S probably damaging Het
Zfp51 A T 17: 21,676,642 (GRCm39) M38L probably benign Het
Zfp560 A T 9: 20,260,011 (GRCm39) C284S possibly damaging Het
Zfp808 C T 13: 62,320,714 (GRCm39) R648* probably null Het
Zfp976 G T 7: 42,262,806 (GRCm39) H344N probably damaging 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
R0370:Rfx2 UTSW 17 57,106,308 (GRCm39) missense probably benign 0.03
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
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'- ACCCAAGTTATCACTCTCAGGGGC -3'
(R):5'- GGACTCTATGCAGAGCACAGAACAC -3'

Sequencing Primer
(F):5'- ACTCTCAGGGGCCTATGACTTAG -3'
(R):5'- TCACTTCTCATTGCAGGTGC -3'
Posted On 2014-12-31