Incidental Mutation 'R7255:Rfx7'
ID 564208
Institutional Source Beutler Lab
Gene Symbol Rfx7
Ensembl Gene ENSMUSG00000037674
Gene Name regulatory factor X, 7
Synonyms 2510005N23Rik, D130086K05Rik, 9930116O05Rik, Rfxdc2
MMRRC Submission 045316-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.904) question?
Stock # R7255 (G1)
Quality Score 225.009
Status Validated
Chromosome 9
Chromosomal Location 72439522-72530219 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 72527110 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Arginine at position 1433 (S1433R)
Ref Sequence ENSEMBL: ENSMUSP00000127192 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000093820] [ENSMUST00000163401]
AlphaFold F8VPJ6
Predicted Effect possibly damaging
Transcript: ENSMUST00000093820
AA Change: S1433R

PolyPhen 2 Score 0.775 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000091338
Gene: ENSMUSG00000037674
AA Change: S1433R

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 possibly damaging
Transcript: ENSMUST00000163401
AA Change: S1433R

PolyPhen 2 Score 0.775 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000127192
Gene: ENSMUSG00000037674
AA Change: S1433R

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
Meta Mutation Damage Score 0.0644 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.7%
Validation Efficiency 97% (66/68)
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: 70 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aldh1a7 A G 19: 20,692,092 (GRCm39) S234P probably damaging Het
Arhgap28 T C 17: 68,159,999 (GRCm39) H650R probably damaging Het
Asic1 A G 15: 99,595,338 (GRCm39) D355G probably damaging Het
Atp8b1 T A 18: 64,689,939 (GRCm39) S598C probably damaging Het
Bcat1 C A 6: 144,978,511 (GRCm39) E237* probably null Het
Btbd16 A T 7: 130,387,722 (GRCm39) I114F probably benign Het
Casp2 A G 6: 42,245,841 (GRCm39) D166G probably damaging Het
Cd86 CA CAA 16: 36,426,917 (GRCm39) probably null Het
Cpsf1 G A 15: 76,481,743 (GRCm39) T1099M probably damaging Het
Crisp4 C A 1: 18,200,455 (GRCm39) A116S probably damaging Het
Cyb5r3 A G 15: 83,044,366 (GRCm39) I168T probably damaging Het
Dip2b G A 15: 100,107,508 (GRCm39) D1407N probably benign Het
Dnajc8 A G 4: 132,278,884 (GRCm39) K201R probably benign Het
Dock10 C T 1: 80,520,816 (GRCm39) probably null Het
Dop1b C A 16: 93,567,034 (GRCm39) H1272N probably damaging Het
Dsc1 C T 18: 20,230,330 (GRCm39) R325Q probably benign Het
Enpp1 A T 10: 24,521,213 (GRCm39) I838K possibly damaging Het
Fcna T G 2: 25,516,040 (GRCm39) D159A probably damaging Het
Flnc G T 6: 29,445,765 (GRCm39) G840C probably damaging Het
Flt1 C T 5: 147,517,216 (GRCm39) A1024T probably damaging Het
Galc T C 12: 98,212,514 (GRCm39) K207R probably null Het
Gbp2b T A 3: 142,313,878 (GRCm39) L386Q probably damaging Het
Gm8297 T A 14: 16,165,868 (GRCm39) N48K probably damaging Het
Gm9639 G A 10: 77,630,372 (GRCm39) P180L unknown Het
Inpp5a A G 7: 139,091,364 (GRCm39) N116S probably damaging Het
Ipo9 T C 1: 135,313,726 (GRCm39) E984G probably benign Het
Klra4 A G 6: 130,036,605 (GRCm39) F145L probably damaging Het
Lag3 A G 6: 124,887,198 (GRCm39) L123P probably benign Het
Lyz3 T C 10: 117,070,327 (GRCm39) H150R probably benign Het
Med7 T A 11: 46,331,822 (GRCm39) M139K probably damaging Het
Mfsd2a A C 4: 122,845,814 (GRCm39) L153R possibly damaging Het
Mup9 A G 4: 60,377,336 (GRCm39) V71A probably benign Het
Myo16 A T 8: 10,549,169 (GRCm39) Q927L unknown Het
Myo9b T C 8: 71,743,535 (GRCm39) Y199H probably damaging Het
Nefm A G 14: 68,353,449 (GRCm39) F406L probably benign Het
Or10ag2 T A 2: 87,249,286 (GRCm39) L296Q probably damaging Het
Or10ak11 A T 4: 118,687,149 (GRCm39) F162I probably benign Het
Pamr1 T C 2: 102,441,929 (GRCm39) F173L probably damaging Het
Pds5b T A 5: 150,720,132 (GRCm39) D1205E probably benign Het
Plxna2 T G 1: 194,434,411 (GRCm39) F646V probably benign Het
Pnrc1 C T 4: 33,248,045 (GRCm39) G118D probably benign Het
Ppp1r16b T C 2: 158,603,311 (GRCm39) F412S probably benign Het
Prcc A T 3: 87,777,398 (GRCm39) V192E probably damaging Het
Psg19 A G 7: 18,527,973 (GRCm39) Y257H probably benign Het
Rgl2 T C 17: 34,153,964 (GRCm39) F457L possibly damaging Het
Sanbr G A 11: 23,570,465 (GRCm39) P145L probably benign Het
Sbspon G T 1: 15,954,021 (GRCm39) C86* probably null Het
Sdhb A G 4: 140,704,729 (GRCm39) E230G possibly damaging Het
Sema6b T C 17: 56,432,336 (GRCm39) T581A probably benign Het
Shkbp1 G T 7: 27,042,173 (GRCm39) T594K possibly damaging Het
Shpk A G 11: 73,090,486 (GRCm39) S48G probably benign Het
Slc1a3 A G 15: 8,672,483 (GRCm39) V332A possibly damaging Het
Slc25a25 T C 2: 32,311,384 (GRCm39) E135G possibly damaging Het
Slc5a8 A T 10: 88,745,493 (GRCm39) D367V probably damaging Het
Slco1c1 A G 6: 141,515,051 (GRCm39) T649A probably benign Het
Sorbs1 G C 19: 40,365,244 (GRCm39) R180G probably benign Het
Spats1 T A 17: 45,765,131 (GRCm39) D163V probably damaging Het
Ssh2 T A 11: 77,316,419 (GRCm39) M304K probably damaging Het
Sulf1 T A 1: 12,929,232 (GRCm39) D166E probably benign Het
Syne1 A G 10: 5,283,446 (GRCm39) S1540P probably damaging Het
Tcf7l1 A T 6: 72,604,330 (GRCm39) probably null Het
Tet1 A T 10: 62,658,415 (GRCm39) M1477K probably benign Het
Tlr5 T C 1: 182,801,881 (GRCm39) F395S probably damaging Het
Trrap T C 5: 144,795,764 (GRCm39) L3847P probably damaging Het
Tsks C T 7: 44,602,112 (GRCm39) S276L probably benign Het
Uggt1 T C 1: 36,185,187 (GRCm39) E1519G probably damaging Het
Vps13a A G 19: 16,631,703 (GRCm39) probably null Het
Wdfy4 A G 14: 32,696,239 (GRCm39) V2768A Het
Wdr26 A C 1: 181,008,889 (GRCm39) I627R probably benign Het
Zfp160 T A 17: 21,245,749 (GRCm39) S100T probably benign 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
R2190:Rfx7 UTSW 9 72,525,201 (GRCm39) missense probably benign 0.00
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
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'- TCAGGTGGCATCTGATCTCAC -3'
(R):5'- GAAGAAACCACTTCTGCAGC -3'

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