Incidental Mutation 'R2190:Rfx7'
ID 238042
Institutional Source Beutler Lab
Gene Symbol Rfx7
Ensembl Gene ENSMUSG00000037674
Gene Name regulatory factor X, 7
Synonyms 2510005N23Rik, D130086K05Rik, 9930116O05Rik, Rfxdc2
MMRRC Submission 040192-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.904) question?
Stock # R2190 (G1)
Quality Score 225
Status Not validated
Chromosome 9
Chromosomal Location 72439522-72530219 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 72525201 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 797 (E797G)
Ref Sequence ENSEMBL: ENSMUSP00000127192 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000093820] [ENSMUST00000163401]
AlphaFold F8VPJ6
Predicted Effect probably benign
Transcript: ENSMUST00000093820
AA Change: E797G

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
SMART Domains Protein: ENSMUSP00000091338
Gene: ENSMUSG00000037674
AA Change: E797G

DomainStartEndE-ValueType
low complexity region 5 21 N/A INTRINSIC
PDB:2KW3|B 41 95 4e-11 PDB
Pfam:RFX_DNA_binding 101 185 3.1e-39 PFAM
low complexity region 260 270 N/A INTRINSIC
low complexity region 304 321 N/A INTRINSIC
low complexity region 356 370 N/A INTRINSIC
low complexity region 521 534 N/A INTRINSIC
low complexity region 947 965 N/A INTRINSIC
low complexity region 1010 1018 N/A INTRINSIC
low complexity region 1066 1081 N/A INTRINSIC
low complexity region 1252 1263 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000163401
AA Change: E797G

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
SMART Domains Protein: ENSMUSP00000127192
Gene: ENSMUSG00000037674
AA Change: E797G

DomainStartEndE-ValueType
low complexity region 5 21 N/A INTRINSIC
PDB:2KW3|B 41 95 4e-11 PDB
Pfam:RFX_DNA_binding 105 183 2.9e-33 PFAM
low complexity region 260 270 N/A INTRINSIC
low complexity region 304 321 N/A INTRINSIC
low complexity region 356 370 N/A INTRINSIC
low complexity region 521 534 N/A INTRINSIC
low complexity region 947 965 N/A INTRINSIC
low complexity region 1010 1018 N/A INTRINSIC
low complexity region 1066 1081 N/A INTRINSIC
low complexity region 1252 1263 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000183517
Predicted Effect noncoding transcript
Transcript: ENSMUST00000184373
Predicted Effect noncoding transcript
Transcript: ENSMUST00000185013
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.4%
  • 20x: 95.2%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] RFX7 is a member of the regulatory factor X (RFX) family of transcription factors (see RFX1, MIM 600006) (Aftab et al., 2008 [PubMed 18673564]).[supplied by OMIM, Mar 2009]
Allele List at MGI
Other mutations in this stock
Total: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aars1 A T 8: 111,766,785 (GRCm39) T56S probably damaging Het
Acbd6 A T 1: 155,500,652 (GRCm39) H204L probably damaging Het
Acnat2 T A 4: 49,383,551 (GRCm39) M1L probably benign Het
Adgrg5 A T 8: 95,660,579 (GRCm39) I73F probably damaging Het
Ankrd52 A G 10: 128,219,487 (GRCm39) T474A probably benign Het
Arid3a A G 10: 79,782,365 (GRCm39) D252G possibly damaging Het
Aspg G T 12: 112,091,322 (GRCm39) E501D probably damaging Het
Bicral A G 17: 47,136,049 (GRCm39) I387T probably damaging Het
Bub1 T C 2: 127,652,645 (GRCm39) N574S probably benign Het
Casr G A 16: 36,315,778 (GRCm39) T764M probably damaging Het
Ccdc60 A G 5: 116,295,639 (GRCm39) S259P probably damaging Het
Ccne2 A T 4: 11,197,241 (GRCm39) N181I probably benign Het
Chd4 A G 6: 125,091,260 (GRCm39) D89G probably benign Het
Col25a1 C T 3: 130,378,364 (GRCm39) P606S probably damaging Het
Dcc A G 18: 71,680,491 (GRCm39) S582P possibly damaging Het
Dlg4 A G 11: 69,933,430 (GRCm39) D619G probably damaging Het
Elavl2 C T 4: 91,152,331 (GRCm39) V129I probably benign Het
Epha3 A G 16: 63,366,552 (GRCm39) I965T probably benign Het
Fbxw16 G A 9: 109,265,739 (GRCm39) S360L probably damaging Het
Fgf14 T C 14: 124,221,330 (GRCm39) Y158C probably damaging Het
Gm44511 A G 6: 128,803,163 (GRCm39) I16T possibly damaging Het
Has2 C A 15: 56,531,183 (GRCm39) V511F probably benign Het
Heatr5b G A 17: 79,109,185 (GRCm39) R1025C probably damaging Het
Hsd17b12 T C 2: 93,864,408 (GRCm39) Y233C probably benign Het
Il36rn A T 2: 24,170,831 (GRCm39) I43F probably damaging Het
Inpp5b T A 4: 124,678,988 (GRCm39) I465N probably damaging Het
Irak2 T A 6: 113,663,904 (GRCm39) N423K probably damaging Het
Itga2 C A 13: 115,007,141 (GRCm39) V396L probably benign Het
Itprid1 A G 6: 55,874,685 (GRCm39) T212A possibly damaging Het
Lipo2 A T 19: 33,725,969 (GRCm39) N94K probably damaging Het
Lrrc37a T C 11: 103,390,869 (GRCm39) T1519A possibly damaging Het
Macf1 A G 4: 123,353,005 (GRCm39) V1558A probably benign Het
Mocos C A 18: 24,797,114 (GRCm39) H91Q probably benign Het
Myh14 G A 7: 44,310,487 (GRCm39) T132I probably damaging Het
Nlrp2 A T 7: 5,322,237 (GRCm39) D803E possibly damaging Het
Ntsr2 T A 12: 16,704,018 (GRCm39) I173N probably damaging Het
Or14c43 A G 7: 86,115,573 (GRCm39) Y318C possibly damaging Het
Or5b105 T G 19: 13,079,857 (GRCm39) K270N probably damaging Het
Pitx3 T C 19: 46,125,486 (GRCm39) Y86C probably damaging Het
Pkp1 T C 1: 135,807,709 (GRCm39) S520G probably benign Het
Pygo1 C T 9: 72,852,529 (GRCm39) Q239* probably null Het
Rab13 A G 3: 90,130,851 (GRCm39) E68G probably damaging Het
Slc5a1 T C 5: 33,261,937 (GRCm39) probably null Het
Slco1c1 A G 6: 141,508,893 (GRCm39) T518A probably benign Het
Spint1 A G 2: 119,068,661 (GRCm39) I132V probably benign Het
Stard9 T A 2: 120,544,601 (GRCm39) I4514N probably benign Het
Tenm3 T G 8: 48,848,579 (GRCm39) S87R probably damaging Het
Thap4 G T 1: 93,678,381 (GRCm39) P135Q probably damaging Het
Tmed9 A G 13: 55,741,156 (GRCm39) E57G probably benign Het
Tnrc18 C T 5: 142,761,644 (GRCm39) V594I unknown Het
Trmt1 A T 8: 85,416,470 (GRCm39) K64* probably null Het
Usf2 A G 7: 30,654,606 (GRCm39) V198A probably damaging Het
Usp14 A T 18: 10,007,835 (GRCm39) C168S probably damaging Het
Vav3 C A 3: 109,470,130 (GRCm39) T525K probably damaging Het
Vmn1r52 A G 6: 90,156,151 (GRCm39) I152V probably benign Het
Vmn2r81 A G 10: 79,104,085 (GRCm39) D236G possibly damaging Het
Wdr19 G A 5: 65,401,509 (GRCm39) V975I possibly damaging Het
Other mutations in Rfx7
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00233:Rfx7 APN 9 72,514,972 (GRCm39) missense probably damaging 1.00
IGL00323:Rfx7 APN 9 72,524,702 (GRCm39) missense probably damaging 0.97
IGL00920:Rfx7 APN 9 72,500,638 (GRCm39) missense probably damaging 1.00
IGL01317:Rfx7 APN 9 72,525,818 (GRCm39) missense probably damaging 0.98
IGL01405:Rfx7 APN 9 72,517,626 (GRCm39) missense probably benign 0.02
IGL01585:Rfx7 APN 9 72,524,343 (GRCm39) missense probably benign 0.41
IGL02118:Rfx7 APN 9 72,524,486 (GRCm39) missense probably benign
IGL02205:Rfx7 APN 9 72,514,932 (GRCm39) missense probably damaging 1.00
IGL02608:Rfx7 APN 9 72,524,576 (GRCm39) missense probably benign 0.00
IGL02629:Rfx7 APN 9 72,526,541 (GRCm39) missense probably damaging 0.96
IGL02963:Rfx7 APN 9 72,524,898 (GRCm39) missense probably benign 0.00
IGL03026:Rfx7 APN 9 72,526,967 (GRCm39) missense probably damaging 1.00
IGL03033:Rfx7 APN 9 72,440,271 (GRCm39) splice site probably benign
IGL03212:Rfx7 APN 9 72,526,443 (GRCm39) missense probably benign 0.06
IGL03221:Rfx7 APN 9 72,526,088 (GRCm39) missense probably damaging 0.99
PIT4431001:Rfx7 UTSW 9 72,525,253 (GRCm39) missense probably benign
R0365:Rfx7 UTSW 9 72,527,118 (GRCm39) missense probably benign 0.15
R0449:Rfx7 UTSW 9 72,517,586 (GRCm39) critical splice acceptor site probably null
R0464:Rfx7 UTSW 9 72,525,486 (GRCm39) missense probably damaging 1.00
R0746:Rfx7 UTSW 9 72,526,388 (GRCm39) missense probably benign 0.00
R1195:Rfx7 UTSW 9 72,525,228 (GRCm39) missense probably damaging 0.99
R1195:Rfx7 UTSW 9 72,525,228 (GRCm39) missense probably damaging 0.99
R1195:Rfx7 UTSW 9 72,525,228 (GRCm39) missense probably damaging 0.99
R1263:Rfx7 UTSW 9 72,484,329 (GRCm39) missense possibly damaging 0.79
R1277:Rfx7 UTSW 9 72,500,594 (GRCm39) missense probably benign 0.32
R1330:Rfx7 UTSW 9 72,524,547 (GRCm39) missense probably benign 0.00
R1371:Rfx7 UTSW 9 72,526,857 (GRCm39) missense probably damaging 1.00
R1605:Rfx7 UTSW 9 72,519,071 (GRCm39) missense probably damaging 1.00
R1802:Rfx7 UTSW 9 72,526,919 (GRCm39) missense possibly damaging 0.50
R1903:Rfx7 UTSW 9 72,524,093 (GRCm39) missense probably damaging 1.00
R2018:Rfx7 UTSW 9 72,524,967 (GRCm39) missense probably benign 0.01
R2050:Rfx7 UTSW 9 72,524,748 (GRCm39) missense probably benign 0.01
R2208:Rfx7 UTSW 9 72,525,246 (GRCm39) missense probably benign 0.00
R2921:Rfx7 UTSW 9 72,524,946 (GRCm39) missense possibly damaging 0.63
R3978:Rfx7 UTSW 9 72,522,393 (GRCm39) missense possibly damaging 0.80
R4231:Rfx7 UTSW 9 72,526,672 (GRCm39) missense possibly damaging 0.77
R4243:Rfx7 UTSW 9 72,499,051 (GRCm39) missense possibly damaging 0.94
R4244:Rfx7 UTSW 9 72,499,051 (GRCm39) missense possibly damaging 0.94
R4245:Rfx7 UTSW 9 72,499,051 (GRCm39) missense possibly damaging 0.94
R4261:Rfx7 UTSW 9 72,523,925 (GRCm39) missense probably damaging 1.00
R4844:Rfx7 UTSW 9 72,500,524 (GRCm39) nonsense probably null
R4902:Rfx7 UTSW 9 72,524,573 (GRCm39) missense probably benign 0.05
R5432:Rfx7 UTSW 9 72,500,584 (GRCm39) missense probably benign 0.35
R5627:Rfx7 UTSW 9 72,440,066 (GRCm39) start gained probably benign
R5900:Rfx7 UTSW 9 72,524,538 (GRCm39) missense probably benign
R5991:Rfx7 UTSW 9 72,526,820 (GRCm39) missense possibly damaging 0.54
R6273:Rfx7 UTSW 9 72,524,279 (GRCm39) missense possibly damaging 0.47
R6306:Rfx7 UTSW 9 72,524,237 (GRCm39) missense possibly damaging 0.63
R6324:Rfx7 UTSW 9 72,525,696 (GRCm39) missense probably damaging 1.00
R6437:Rfx7 UTSW 9 72,525,768 (GRCm39) missense possibly damaging 0.66
R6860:Rfx7 UTSW 9 72,524,226 (GRCm39) missense probably damaging 1.00
R6998:Rfx7 UTSW 9 72,525,787 (GRCm39) missense probably damaging 1.00
R7255:Rfx7 UTSW 9 72,527,110 (GRCm39) missense possibly damaging 0.77
R7336:Rfx7 UTSW 9 72,500,639 (GRCm39) missense probably damaging 1.00
R7501:Rfx7 UTSW 9 72,524,054 (GRCm39) missense probably benign
R7857:Rfx7 UTSW 9 72,500,605 (GRCm39) missense possibly damaging 0.89
R7946:Rfx7 UTSW 9 72,524,096 (GRCm39) missense probably damaging 1.00
R8345:Rfx7 UTSW 9 72,524,973 (GRCm39) missense probably benign
R8354:Rfx7 UTSW 9 72,526,731 (GRCm39) missense probably benign
R8553:Rfx7 UTSW 9 72,519,086 (GRCm39) missense probably damaging 1.00
R8726:Rfx7 UTSW 9 72,500,505 (GRCm39) splice site probably benign
R8766:Rfx7 UTSW 9 72,524,021 (GRCm39) missense possibly damaging 0.47
R8788:Rfx7 UTSW 9 72,524,795 (GRCm39) missense probably benign
R8805:Rfx7 UTSW 9 72,524,316 (GRCm39) missense probably benign
R8897:Rfx7 UTSW 9 72,525,123 (GRCm39) missense probably benign 0.00
R9198:Rfx7 UTSW 9 72,524,163 (GRCm39) missense probably damaging 1.00
R9497:Rfx7 UTSW 9 72,526,423 (GRCm39) missense probably benign 0.17
R9589:Rfx7 UTSW 9 72,525,122 (GRCm39) missense possibly damaging 0.59
Z1177:Rfx7 UTSW 9 72,522,526 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- ATAGAGGATCAGCCCGTGAAC -3'
(R):5'- CAGTTCCGATTGCAATGGC -3'

Sequencing Primer
(F):5'- GCTCTTGTCACCAGTGAACCAG -3'
(R):5'- CAACTGATCTGAAGACTGTGCTTG -3'
Posted On 2014-10-02