Incidental Mutation 'R7155:Rfx1'
ID 557221
Institutional Source Beutler Lab
Gene Symbol Rfx1
Ensembl Gene ENSMUSG00000031706
Gene Name regulatory factor X, 1 (influences HLA class II expression)
Synonyms
MMRRC Submission 045226-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R7155 (G1)
Quality Score 225.009
Status Not validated
Chromosome 8
Chromosomal Location 84793463-84823621 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 84821455 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 755 (I755F)
Ref Sequence ENSEMBL: ENSMUSP00000005600 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000005600] [ENSMUST00000041367] [ENSMUST00000210279] [ENSMUST00000211046]
AlphaFold P48377
Predicted Effect probably damaging
Transcript: ENSMUST00000005600
AA Change: I755F

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000005600
Gene: ENSMUSG00000031706
AA Change: I755F

DomainStartEndE-ValueType
low complexity region 11 47 N/A INTRINSIC
low complexity region 53 67 N/A INTRINSIC
low complexity region 73 92 N/A INTRINSIC
Pfam:RFX1_trans_act 106 176 9.6e-9 PFAM
Pfam:RFX1_trans_act 211 366 1.8e-59 PFAM
Pfam:RFX_DNA_binding 420 498 2.5e-35 PFAM
Blast:HisKA 705 768 3e-28 BLAST
low complexity region 908 920 N/A INTRINSIC
low complexity region 932 948 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000041367
SMART Domains Protein: ENSMUSP00000038568
Gene: ENSMUSG00000037103

DomainStartEndE-ValueType
low complexity region 12 33 N/A INTRINSIC
Pfam:DCAF15_WD40 48 259 1.1e-84 PFAM
low complexity region 275 294 N/A INTRINSIC
low complexity region 343 359 N/A INTRINSIC
low complexity region 374 384 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000210279
Predicted Effect probably damaging
Transcript: ENSMUST00000211046
AA Change: I755F

PolyPhen 2 Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 98.8%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the regulatory factor X (RFX) family of transcription factors, which are characterized by a winged-helix DNA-binding domain. The encoded transcription factor contains an N-terminal activation domain and a C-terminal repression domain, and may activate or repress target gene expression depending on cellular context. This transcription factor has been shown to regulate a wide variety of genes involved in immunity and cancer, including the MHC class II genes and genes that may be involved in cancer progression. This gene exhibits altered expression in glioblastoma and the autoimmune disease systemic lupus erythematosis (SLE). [provided by RefSeq, Jul 2016]
PHENOTYPE: Mice homozygous for a gene trap allele die prior to implantation. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 85 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921509C19Rik A G 2: 151,315,489 (GRCm39) L63P possibly damaging Het
Abca13 A T 11: 9,479,010 (GRCm39) Y4286F probably benign Het
Aldh5a1 A C 13: 25,095,572 (GRCm39) V515G possibly damaging Het
Ankrd42 T C 7: 92,241,141 (GRCm39) E406G possibly damaging Het
Arfgef2 T A 2: 166,707,733 (GRCm39) M1043K probably benign Het
Arhgef11 T A 3: 87,616,879 (GRCm39) Y383* probably null Het
Aste1 C T 9: 105,282,335 (GRCm39) P614L probably damaging Het
B3galt5 T A 16: 96,117,005 (GRCm39) S213T probably damaging Het
Bak1 A G 17: 27,241,434 (GRCm39) L108P possibly damaging Het
Bcl6 G A 16: 23,784,976 (GRCm39) R675* probably null Het
Bdp1 T G 13: 100,197,659 (GRCm39) T909P possibly damaging Het
Cacna1i A G 15: 80,279,439 (GRCm39) H2060R probably benign Het
Cdhr3 G T 12: 33,111,772 (GRCm39) P246Q probably damaging Het
Colgalt1 T C 8: 72,076,354 (GRCm39) S602P probably damaging Het
Csde1 T C 3: 102,947,269 (GRCm39) S74P probably damaging Het
Cyp51 A T 5: 4,137,846 (GRCm39) C366S possibly damaging Het
Dcaf7 A G 11: 105,928,016 (GRCm39) N23D probably damaging Het
Ddx10 G A 9: 53,028,588 (GRCm39) A772V probably benign Het
Ddx4 A G 13: 112,750,319 (GRCm39) F404S probably benign Het
Dlg4 T A 11: 69,908,042 (GRCm39) M1K probably null Het
Dnajc6 T C 4: 101,470,142 (GRCm39) V293A probably damaging Het
Etl4 G T 2: 20,811,742 (GRCm39) R1643L probably damaging Het
F13b G A 1: 139,435,895 (GRCm39) E234K probably damaging Het
Fam171a1 T C 2: 3,226,766 (GRCm39) I633T probably benign Het
Frem3 A G 8: 81,342,668 (GRCm39) I1654V probably benign Het
Galr2 A G 11: 116,174,408 (GRCm39) E346G possibly damaging Het
Gck G A 11: 5,899,705 (GRCm39) probably benign Het
Gen1 G T 12: 11,291,833 (GRCm39) T717K probably benign Het
Gpatch8 TTCCTCCTCCTCCTCTTCCTCCTCCTC TTCCTCCTCCTCCTCCTCTTCCTCCTCCTC 11: 102,371,014 (GRCm39) probably benign Het
Hat1 A G 2: 71,251,595 (GRCm39) T215A possibly damaging Het
Hmbox1 A T 14: 65,134,486 (GRCm39) M38K probably damaging Het
Ifi47 A G 11: 48,987,369 (GRCm39) K379E probably benign Het
Ift81 T C 5: 122,707,062 (GRCm39) Y460C probably damaging Het
Jarid2 T A 13: 45,055,938 (GRCm39) S381R probably damaging Het
Kmt2b A T 7: 30,279,388 (GRCm39) V1458E probably damaging Het
Kpna4 G T 3: 68,997,266 (GRCm39) P336Q probably damaging Het
Krt84 T C 15: 101,440,689 (GRCm39) R168G probably damaging Het
Lhx8 T A 3: 154,030,221 (GRCm39) Y137F possibly damaging Het
Lin7b T C 7: 45,019,651 (GRCm39) E19G probably damaging Het
Lrmda A T 14: 22,634,608 (GRCm39) R131S probably damaging Het
Lrrc75b C T 10: 75,389,512 (GRCm39) A280T possibly damaging Het
Megf11 G A 9: 64,555,233 (GRCm39) R268K probably null Het
Mgat4e G T 1: 134,469,697 (GRCm39) Q116K probably damaging Het
Mlkl A G 8: 112,046,035 (GRCm39) L325P probably damaging Het
Mup2 A G 4: 60,137,641 (GRCm39) L134P probably damaging Het
Myo19 A G 11: 84,791,412 (GRCm39) E489G probably damaging Het
Ncbp3 C A 11: 72,938,835 (GRCm39) P37Q probably damaging Het
Nf2 A G 11: 4,749,964 (GRCm39) V236A probably damaging Het
Nlrp1a A T 11: 71,014,905 (GRCm39) M115K possibly damaging Het
Nsf T A 11: 103,719,356 (GRCm39) K649* probably null Het
Olfml2b A T 1: 170,494,354 (GRCm39) I313L probably benign Het
Or2ak4 T A 11: 58,649,109 (GRCm39) I206N probably damaging Het
Or52u1 T A 7: 104,237,764 (GRCm39) V251D possibly damaging Het
Papln T A 12: 83,823,295 (GRCm39) L444Q probably damaging Het
Phc3 T C 3: 30,968,346 (GRCm39) I897V probably benign Het
Plcg1 T C 2: 160,596,300 (GRCm39) L632P probably damaging Het
Pramel21 A T 4: 143,342,735 (GRCm39) I281F probably benign Het
Prkg1 T C 19: 31,279,701 (GRCm39) T178A probably damaging Het
Ptges T A 2: 30,782,816 (GRCm39) T79S probably benign Het
Rab26 T C 17: 24,751,263 (GRCm39) T81A probably damaging Het
Rai14 T A 15: 10,595,089 (GRCm39) I145L possibly damaging Het
Rasgrf1 A G 9: 89,884,414 (GRCm39) T960A possibly damaging Het
Rims1 T G 1: 22,503,174 (GRCm39) L670F probably damaging Het
Rtkn G A 6: 83,126,692 (GRCm39) C297Y probably damaging Het
Sec23a A T 12: 59,036,229 (GRCm39) N378K probably benign Het
Slc1a2 T C 2: 102,597,340 (GRCm39) M449T probably damaging Het
Slc22a3 G A 17: 12,652,518 (GRCm39) L369F possibly damaging Het
Slc34a1 A G 13: 24,006,390 (GRCm39) E472G probably benign Het
Slc49a4 G T 16: 35,555,947 (GRCm39) T171K probably benign Het
Smad6 G T 9: 63,929,069 (GRCm39) D82E unknown Het
Smgc A T 15: 91,736,811 (GRCm39) I463F possibly damaging Het
Strada C A 11: 106,061,865 (GRCm39) G166C probably damaging Het
Tcaf3 A G 6: 42,570,825 (GRCm39) V309A probably benign Het
Tet2 C T 3: 133,175,352 (GRCm39) E1332K possibly damaging Het
Tfcp2l1 A G 1: 118,596,362 (GRCm39) N366D probably damaging Het
Tll2 G A 19: 41,105,723 (GRCm39) P369L possibly damaging Het
Tox4 T C 14: 52,529,554 (GRCm39) V505A probably benign Het
Trbv4 A G 6: 41,036,787 (GRCm39) D104G probably damaging Het
Ugdh T C 5: 65,574,380 (GRCm39) E416G probably damaging Het
Usp47 T A 7: 111,686,220 (GRCm39) C613S probably damaging Het
Vmn1r11 T A 6: 57,115,147 (GRCm39) N270K probably benign Het
Wsb2 T A 5: 117,509,160 (GRCm39) L147Q probably damaging Het
Xrn1 G A 9: 95,861,198 (GRCm39) A453T possibly damaging Het
Zan A G 5: 137,460,106 (GRCm39) S1262P unknown Het
Zswim4 A G 8: 84,946,556 (GRCm39) L700P probably damaging Het
Other mutations in Rfx1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01612:Rfx1 APN 8 84,819,601 (GRCm39) critical splice acceptor site probably null
IGL01779:Rfx1 APN 8 84,819,291 (GRCm39) splice site probably benign
IGL02505:Rfx1 APN 8 84,822,438 (GRCm39) missense possibly damaging 0.79
IGL02741:Rfx1 APN 8 84,822,471 (GRCm39) missense possibly damaging 0.94
R1565:Rfx1 UTSW 8 84,800,575 (GRCm39) missense probably benign
R1793:Rfx1 UTSW 8 84,793,050 (GRCm39) unclassified probably benign
R1808:Rfx1 UTSW 8 84,821,677 (GRCm39) missense probably damaging 1.00
R1971:Rfx1 UTSW 8 84,822,126 (GRCm39) missense probably damaging 1.00
R4542:Rfx1 UTSW 8 84,816,866 (GRCm39) missense probably damaging 1.00
R4690:Rfx1 UTSW 8 84,809,374 (GRCm39) missense possibly damaging 0.50
R4995:Rfx1 UTSW 8 84,806,743 (GRCm39) splice site probably null
R5163:Rfx1 UTSW 8 84,819,840 (GRCm39) missense probably damaging 0.98
R5212:Rfx1 UTSW 8 84,793,221 (GRCm39) unclassified probably benign
R5227:Rfx1 UTSW 8 84,800,687 (GRCm39) missense probably damaging 0.99
R5401:Rfx1 UTSW 8 84,793,005 (GRCm39) splice site probably null
R5431:Rfx1 UTSW 8 84,809,349 (GRCm39) nonsense probably null
R5584:Rfx1 UTSW 8 84,814,706 (GRCm39) splice site probably null
R5693:Rfx1 UTSW 8 84,800,533 (GRCm39) missense unknown
R6210:Rfx1 UTSW 8 84,819,647 (GRCm39) missense probably damaging 1.00
R6715:Rfx1 UTSW 8 84,822,444 (GRCm39) missense possibly damaging 0.49
R6920:Rfx1 UTSW 8 84,822,117 (GRCm39) missense probably damaging 1.00
R7131:Rfx1 UTSW 8 84,821,708 (GRCm39) missense probably damaging 0.96
R7336:Rfx1 UTSW 8 84,800,385 (GRCm39) start gained probably benign
R7467:Rfx1 UTSW 8 84,800,542 (GRCm39) missense possibly damaging 0.86
R8105:Rfx1 UTSW 8 84,814,505 (GRCm39) missense possibly damaging 0.92
R8145:Rfx1 UTSW 8 84,800,657 (GRCm39) missense probably benign 0.06
R8261:Rfx1 UTSW 8 84,819,479 (GRCm39) missense probably benign 0.00
R8263:Rfx1 UTSW 8 84,821,483 (GRCm39) missense probably damaging 1.00
R8443:Rfx1 UTSW 8 84,806,515 (GRCm39) missense probably benign 0.00
R8680:Rfx1 UTSW 8 84,818,084 (GRCm39) missense possibly damaging 0.82
R9302:Rfx1 UTSW 8 84,817,662 (GRCm39) missense possibly damaging 0.50
R9473:Rfx1 UTSW 8 84,819,903 (GRCm39) missense probably damaging 0.96
R9766:Rfx1 UTSW 8 84,814,376 (GRCm39) missense probably damaging 1.00
Z1177:Rfx1 UTSW 8 84,816,906 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- GTTGAATGTTTGATCCACACCAG -3'
(R):5'- GTCACCTTGAAGTCCTGCTC -3'

Sequencing Primer
(F):5'- GAATGTTTGATCCACACCAGTACTG -3'
(R):5'- TTGAAGTCCTGCTCCAAACG -3'
Posted On 2019-06-26