Incidental Mutation 'R0449:Rfx7'
ID 39528
Institutional Source Beutler Lab
Gene Symbol Rfx7
Ensembl Gene ENSMUSG00000037674
Gene Name regulatory factor X, 7
Synonyms 2510005N23Rik, D130086K05Rik, 9930116O05Rik, Rfxdc2
MMRRC Submission 038649-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.904) question?
Stock # R0449 (G1)
Quality Score 225
Status Not validated
Chromosome 9
Chromosomal Location 72439522-72530219 bp(+) (GRCm39)
Type of Mutation critical splice acceptor site
DNA Base Change (assembly) A to T at 72517586 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000091338 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000093820] [ENSMUST00000093820] [ENSMUST00000093820] [ENSMUST00000163401] [ENSMUST00000183372] [ENSMUST00000184015]
AlphaFold F8VPJ6
Predicted Effect probably null
Transcript: ENSMUST00000093820
SMART Domains Protein: ENSMUSP00000091338
Gene: ENSMUSG00000037674

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 null
Transcript: ENSMUST00000093820
SMART Domains Protein: ENSMUSP00000091338
Gene: ENSMUSG00000037674

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 null
Transcript: ENSMUST00000093820
SMART Domains Protein: ENSMUSP00000091338
Gene: ENSMUSG00000037674

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 damaging
Transcript: ENSMUST00000163401
AA Change: K173N

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000127192
Gene: ENSMUSG00000037674
AA Change: K173N

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: ENSMUST00000183369
Predicted Effect probably damaging
Transcript: ENSMUST00000183372
AA Change: K173N

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000139195
Gene: ENSMUSG00000037674
AA Change: K173N

DomainStartEndE-ValueType
low complexity region 5 21 N/A INTRINSIC
PDB:2KW3|B 41 95 4e-12 PDB
Pfam:RFX_DNA_binding 101 185 9e-40 PFAM
Pfam:Pox_D5 109 196 1.8e-8 PFAM
low complexity region 259 272 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000183517
Predicted Effect noncoding transcript
Transcript: ENSMUST00000183601
Predicted Effect probably damaging
Transcript: ENSMUST00000184015
AA Change: K173N

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000138957
Gene: ENSMUSG00000037674
AA Change: K173N

DomainStartEndE-ValueType
low complexity region 5 21 N/A INTRINSIC
PDB:2KW3|B 41 95 4e-12 PDB
Pfam:RFX_DNA_binding 101 185 9e-40 PFAM
Pfam:Pox_D5 109 196 1.8e-8 PFAM
low complexity region 259 272 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000185013
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.6%
  • 10x: 97.0%
  • 20x: 94.7%
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: 75 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb4 A T 5: 8,989,885 (GRCm39) R813* probably null Het
Accsl T A 2: 93,696,419 (GRCm39) I60F probably benign Het
Adam29 C T 8: 56,325,716 (GRCm39) G246D probably benign Het
Ankrd13c A G 3: 157,697,351 (GRCm39) I319V probably benign Het
Bag6 T G 17: 35,360,442 (GRCm39) V327G probably damaging Het
Barhl1 C T 2: 28,805,304 (GRCm39) A130T probably benign Het
Bend4 T C 5: 67,555,583 (GRCm39) D541G probably damaging Het
Birc6 A C 17: 74,999,290 (GRCm39) T4673P probably damaging Het
Ccdc81 T C 7: 89,539,679 (GRCm39) R186G probably damaging Het
Cdyl2 A G 8: 117,309,931 (GRCm39) F342L probably damaging Het
Chd3 C A 11: 69,248,367 (GRCm39) V748L probably damaging Het
CN725425 G T 15: 91,123,147 (GRCm39) R72I possibly damaging Het
Col22a1 A G 15: 71,834,520 (GRCm39) probably null Het
Cops3 A G 11: 59,709,243 (GRCm39) probably null Het
Ctnnd1 G T 2: 84,433,606 (GRCm39) Q940K possibly damaging Het
Dtnb C T 12: 3,641,971 (GRCm39) Q45* probably null Het
Efr3a T A 15: 65,714,553 (GRCm39) I280K probably damaging Het
Eml6 A C 11: 29,843,213 (GRCm39) V167G probably benign Het
Fam83c T A 2: 155,672,215 (GRCm39) M407L probably benign Het
Fasn T C 11: 120,701,894 (GRCm39) T1862A probably benign Het
Fbxl6 A G 15: 76,420,155 (GRCm39) I486T probably damaging Het
Gpr182 A G 10: 127,586,565 (GRCm39) Y129H probably damaging Het
Gpr75 A G 11: 30,842,456 (GRCm39) S454G probably damaging Het
Hectd4 G A 5: 121,502,653 (GRCm39) probably null Het
Hsf4 A G 8: 106,002,222 (GRCm39) T411A probably benign Het
Hsh2d G A 8: 72,954,304 (GRCm39) D229N probably benign Het
Il4 A T 11: 53,509,432 (GRCm39) M1K probably null Het
Ints11 G T 4: 155,972,405 (GRCm39) R463L probably benign Het
Ints4 G A 7: 97,178,430 (GRCm39) E677K probably damaging Het
Klk1b11 G A 7: 43,647,216 (GRCm39) C50Y probably damaging Het
Krt14 C A 11: 100,098,221 (GRCm39) G21C unknown Het
Krt81 C A 15: 101,361,508 (GRCm39) R24L possibly damaging Het
L3mbtl2 C T 15: 81,552,942 (GRCm39) A125V probably damaging Het
Lama3 A G 18: 12,633,569 (GRCm39) probably null Het
Lrrk2 T C 15: 91,634,478 (GRCm39) L1414P probably damaging Het
Matn2 T C 15: 34,428,687 (GRCm39) S684P probably damaging Het
Mga T A 2: 119,771,862 (GRCm39) V1574D probably damaging Het
Mia2 T C 12: 59,219,380 (GRCm39) probably null Het
Mrpl21 T A 19: 3,342,459 (GRCm39) probably benign Het
Msh5 T A 17: 35,260,458 (GRCm39) Q266L probably benign Het
Mybpc1 C A 10: 88,376,822 (GRCm39) C758F probably damaging Het
Myo15a G A 11: 60,400,422 (GRCm39) A2932T possibly damaging Het
Nbas T A 12: 13,569,109 (GRCm39) I2021K probably benign Het
Neurl4 T C 11: 69,796,393 (GRCm39) S424P probably damaging Het
Or10j5 T A 1: 172,784,965 (GRCm39) V201E probably damaging Het
Or2w3 A C 11: 58,556,789 (GRCm39) I135L probably benign Het
Or6c6 A G 10: 129,187,103 (GRCm39) M224V probably benign Het
Or7g17 T C 9: 18,767,945 (GRCm39) M8T probably benign Het
Or7g32 T A 9: 19,389,388 (GRCm39) I53F possibly damaging Het
Phlpp1 C T 1: 106,278,308 (GRCm39) R907W probably damaging Het
Pigg T C 5: 108,484,277 (GRCm39) V508A probably benign Het
Pkhd1l1 T G 15: 44,364,915 (GRCm39) Y685D probably damaging Het
Polr3a A T 14: 24,534,534 (GRCm39) I34N probably damaging Het
Pramel17 T C 4: 101,694,158 (GRCm39) S242G probably benign Het
Prex1 A G 2: 166,411,297 (GRCm39) V1434A probably benign Het
Ptprh T A 7: 4,601,005 (GRCm39) D124V probably damaging Het
Rad54b T A 4: 11,606,131 (GRCm39) I513N probably benign Het
Rbm12b1 A G 4: 12,145,507 (GRCm39) N493S probably benign Het
Serpini1 A G 3: 75,520,648 (GRCm39) K82E probably benign Het
Slc27a6 T G 18: 58,742,237 (GRCm39) probably null Het
Slc35f2 G T 9: 53,724,201 (GRCm39) L358F probably damaging Het
Slc45a1 A C 4: 150,727,762 (GRCm39) I158M probably damaging Het
Slurp2 G A 15: 74,614,955 (GRCm39) P62L probably damaging Het
Sspo C T 6: 48,443,674 (GRCm39) H1949Y probably damaging Het
Tiam1 A T 16: 89,634,715 (GRCm39) V865E possibly damaging Het
Tlr4 A C 4: 66,757,857 (GRCm39) I217L probably damaging Het
Top1 C T 2: 160,554,628 (GRCm39) R460* probably null Het
Trpm3 T A 19: 22,965,418 (GRCm39) S1638T probably benign Het
Tubgcp5 C T 7: 55,473,315 (GRCm39) R798C probably benign Het
Vars1 T G 17: 35,231,703 (GRCm39) probably null Het
Xylt2 A G 11: 94,557,159 (GRCm39) Y111H probably benign Het
Zbed5 G A 5: 129,930,567 (GRCm39) G172D probably damaging Het
Zfp53 C T 17: 21,729,095 (GRCm39) T376I probably benign Het
Zfp937 G T 2: 150,081,466 (GRCm39) V499L probably benign Het
Zyx T A 6: 42,328,247 (GRCm39) L152Q probably 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
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
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'- GGCTGCTTTTCTAAAGGAGTCACAGG -3'
(R):5'- GTGGAAGGAACAATTCTCAGTTCCCG -3'

Sequencing Primer
(F):5'- GGTTAAAGCCCTTGTGACAC -3'
(R):5'- GTTCCCGATTTTAGCCAATATACTG -3'
Posted On 2013-05-23