Incidental Mutation 'R7329:Rfx2'
ID 569151
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 045422-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.747) question?
Stock # R7329 (G1)
Quality Score 225.009
Status Validated
Chromosome 17
Chromosomal Location 57082897-57138013 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 57110681 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Threonine at position 102 (S102T)
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: S102T

PolyPhen 2 Score 0.052 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000002444
Gene: ENSMUSG00000024206
AA Change: S102T

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
AA Change: S102T

PolyPhen 2 Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000084010
Gene: ENSMUSG00000024206
AA Change: S102T

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 0.1476 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.4%
Validation Efficiency 100% (78/78)
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: 79 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actb T C 5: 142,890,146 (GRCm39) N252S probably benign Het
Adgrb1 C A 15: 74,411,094 (GRCm39) T330K probably damaging Het
Ahnak A G 19: 8,979,156 (GRCm39) T147A probably damaging Het
Ankfy1 T C 11: 72,603,034 (GRCm39) V21A probably damaging Het
Arrdc4 T A 7: 68,390,775 (GRCm39) N322Y probably damaging Het
Bfsp2 C A 9: 103,327,121 (GRCm39) E205D probably benign Het
C2cd4b T A 9: 67,667,419 (GRCm39) S138R possibly damaging Het
Camkk1 C G 11: 72,917,873 (GRCm39) N147K probably damaging Het
Ckap2l T A 2: 129,127,284 (GRCm39) Q298L possibly damaging Het
Clstn2 G T 9: 97,343,422 (GRCm39) A675D probably benign Het
Cntnap2 G A 6: 47,248,205 (GRCm39) V1204M possibly damaging Het
Col4a1 C T 8: 11,276,494 (GRCm39) probably null Het
Ctrc T C 4: 141,571,022 (GRCm39) T73A probably benign Het
Cubn A G 2: 13,473,582 (GRCm39) F454L probably damaging Het
Cuedc1 A T 11: 88,060,692 (GRCm39) S12C unknown Het
Cyb561a3 G T 19: 10,565,268 (GRCm39) G211C probably damaging Het
D5Ertd579e A T 5: 36,773,739 (GRCm39) S219T probably benign Het
Dennd4c T A 4: 86,759,318 (GRCm39) Y1783N probably damaging Het
Dennd4c C T 4: 86,698,111 (GRCm39) P200S possibly damaging Het
Dnah6 G A 6: 73,121,705 (GRCm39) Q1426* probably null Het
Dync2h1 T G 9: 7,011,247 (GRCm39) T3649P probably benign Het
E2f8 T C 7: 48,521,858 (GRCm39) S415G probably damaging Het
Fbxo22 A G 9: 55,122,261 (GRCm39) I147V probably benign Het
Gclc A G 9: 77,683,473 (GRCm39) Y110C probably damaging Het
Gstm5 A G 3: 107,803,647 (GRCm39) T27A possibly damaging Het
Heatr4 A G 12: 84,024,856 (GRCm39) S322P probably benign Het
Htt T A 5: 34,987,099 (GRCm39) I1106N probably benign Het
Hunk T C 16: 90,183,570 (GRCm39) V76A probably benign Het
Igkv12-98 C T 6: 68,548,087 (GRCm39) T72I possibly damaging Het
Igkv9-123 A T 6: 67,931,629 (GRCm39) W16R possibly damaging Het
Ipo7 T C 7: 109,648,224 (GRCm39) L674S possibly damaging Het
Kcnh6 T C 11: 105,908,203 (GRCm39) F273S probably benign Het
Lamb3 C A 1: 193,002,848 (GRCm39) Q98K possibly damaging Het
Lingo4 A T 3: 94,310,162 (GRCm39) T367S probably benign Het
Lypd6b A T 2: 49,832,512 (GRCm39) I26F probably benign Het
Maneal T C 4: 124,750,512 (GRCm39) T415A probably benign Het
Mapk1ip1l A G 14: 47,547,920 (GRCm39) T23A unknown Het
Mrps17 T A 5: 129,793,705 (GRCm39) probably benign Het
Mup13 T G 4: 61,183,688 (GRCm39) D45A probably damaging Het
Mycbpap T A 11: 94,400,073 (GRCm39) D408V probably damaging Het
Myh10 A G 11: 68,701,017 (GRCm39) H1742R probably benign Het
Mylk4 A G 13: 32,900,766 (GRCm39) Y255H probably damaging Het
Nbeal1 A G 1: 60,256,355 (GRCm39) Q200R probably benign Het
Nkain2 TTTACTCGTT TTT 10: 32,765,892 (GRCm39) probably null Het
Olfm4 T C 14: 80,249,369 (GRCm39) V162A possibly damaging Het
Or1j15 A G 2: 36,458,708 (GRCm39) T33A probably benign Het
Or51a8 T C 7: 102,550,039 (GRCm39) L155P probably damaging Het
Or5w8 T C 2: 87,687,585 (GRCm39) V22A probably benign Het
Or8c11 C A 9: 38,289,456 (GRCm39) T87K probably benign Het
Ovol3 T A 7: 29,934,677 (GRCm39) R43S probably benign Het
Pcbp1 A G 6: 86,502,098 (GRCm39) V267A probably benign Het
Phf20 T A 2: 156,146,552 (GRCm39) V903E probably damaging Het
Pi4k2b T G 5: 52,914,211 (GRCm39) S316A probably benign Het
Pira1 G A 7: 3,742,875 (GRCm39) probably benign Het
Pkhd1 A T 1: 20,617,743 (GRCm39) H947Q probably damaging Het
Ppip5k2 A C 1: 97,678,478 (GRCm39) probably null Het
Prkca T A 11: 107,905,103 (GRCm39) T212S possibly damaging Het
Psg16 A T 7: 16,824,611 (GRCm39) I41F possibly damaging Het
Rae1 T A 2: 172,851,238 (GRCm39) F204I probably benign Het
Rasef T A 4: 73,662,374 (GRCm39) N192I probably damaging Het
Rfc1 T A 5: 65,420,478 (GRCm39) R1122S unknown Het
Sez6l A G 5: 112,588,773 (GRCm39) Y647H probably damaging Het
Siglecf A G 7: 43,001,395 (GRCm39) Y121C probably damaging Het
Slc27a5 T C 7: 12,725,089 (GRCm39) T453A possibly damaging Het
Slc44a2 G A 9: 21,254,048 (GRCm39) R171Q probably damaging Het
Slc4a9 A C 18: 36,673,874 (GRCm39) E889A possibly damaging Het
Snx31 C A 15: 36,555,621 (GRCm39) R13L probably benign Het
Spag6l A T 16: 16,584,883 (GRCm39) Y422N probably benign Het
Spmip5 T C 19: 58,777,654 (GRCm39) E52G probably damaging Het
Sulf2 T C 2: 165,959,008 (GRCm39) T67A probably damaging Het
Syne2 G A 12: 76,013,758 (GRCm39) R2983Q probably benign Het
Tmtc3 A G 10: 100,283,281 (GRCm39) I758T probably benign Het
Top2a T A 11: 98,895,072 (GRCm39) I843L possibly damaging Het
Tph1 T C 7: 46,306,285 (GRCm39) probably null Het
Trdmt1 A G 2: 13,520,933 (GRCm39) L323P probably damaging Het
Ush2a A T 1: 188,285,395 (GRCm39) E1977V probably damaging Het
Utp4 A G 8: 107,640,095 (GRCm39) E468G probably benign Het
Uts2r A G 11: 121,051,558 (GRCm39) T141A possibly damaging Het
Vmn1r230 A G 17: 21,066,952 (GRCm39) Y47C 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
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
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'- AGTGTCTTGTGCCGTCCATG -3'
(R):5'- ACCTTTGAGTTTCCTGGACTG -3'

Sequencing Primer
(F):5'- ATGCCCCCATGGATGAGGTAG -3'
(R):5'- TGACAGGCAGTTGTGAGCTACC -3'
Posted On 2019-09-13