Incidental Mutation 'R8726:Rfx7'
ID 686576
Institutional Source Beutler Lab
Gene Symbol Rfx7
Ensembl Gene ENSMUSG00000037674
Gene Name regulatory factor X, 7
Synonyms 2510005N23Rik, D130086K05Rik, 9930116O05Rik, Rfxdc2
MMRRC Submission 068616-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.904) question?
Stock # R8726 (G1)
Quality Score 225.009
Status Validated
Chromosome 9
Chromosomal Location 72439522-72530219 bp(+) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) T to A at 72500505 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000138957 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000093820] [ENSMUST00000163401] [ENSMUST00000183372] [ENSMUST00000184015]
AlphaFold F8VPJ6
Predicted Effect probably benign
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 benign
Transcript: ENSMUST00000163401
SMART Domains Protein: ENSMUSP00000127192
Gene: ENSMUSG00000037674

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 probably benign
Transcript: ENSMUST00000183372
SMART Domains Protein: ENSMUSP00000139195
Gene: ENSMUSG00000037674

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 probably benign
Transcript: ENSMUST00000184015
SMART Domains Protein: ENSMUSP00000138957
Gene: ENSMUSG00000037674

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.6%
Validation Efficiency 100% (76/76)
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: 79 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2810408A11Rik A G 11: 69,789,207 (GRCm39) S331P possibly damaging Het
4930433I11Rik A G 7: 40,644,226 (GRCm39) M632V probably benign Het
9930111J21Rik2 A C 11: 48,910,507 (GRCm39) V642G probably damaging Het
Abcd4 A T 12: 84,651,171 (GRCm39) probably benign Het
Acsbg1 T C 9: 54,525,462 (GRCm39) E363G probably damaging Het
Ank3 T A 10: 69,823,084 (GRCm39) H584Q Het
Ankrd11 A T 8: 123,620,765 (GRCm39) L1029Q possibly damaging Het
Anpep C T 7: 79,490,641 (GRCm39) V292I probably benign Het
Atmin G A 8: 117,681,525 (GRCm39) D175N possibly damaging Het
B4galt6 T C 18: 20,821,450 (GRCm39) I359M possibly damaging Het
Bicd2 A G 13: 49,532,905 (GRCm39) D497G probably damaging Het
Calcr C T 6: 3,707,489 (GRCm39) probably benign Het
Camkk2 G T 5: 122,882,002 (GRCm39) D418E probably benign Het
Cntn3 A T 6: 102,146,014 (GRCm39) Y942* probably null Het
Col8a1 C T 16: 57,449,138 (GRCm39) R124H probably damaging Het
Coro7 T C 16: 4,486,619 (GRCm39) T185A possibly damaging Het
Creb3 C T 4: 43,566,747 (GRCm39) P364S probably benign Het
Csf1r A T 18: 61,250,728 (GRCm39) T480S probably benign Het
Csnk1g1 T A 9: 65,909,553 (GRCm39) H223Q probably damaging Het
Ctns C T 11: 73,078,613 (GRCm39) V171M probably benign Het
Dhx15 A T 5: 52,311,568 (GRCm39) N637K probably benign Het
Eif4g1 T C 16: 20,494,232 (GRCm39) Y103H probably damaging Het
Eif4g2 C T 7: 110,676,629 (GRCm39) R295H probably damaging Het
Fat1 C T 8: 45,477,206 (GRCm39) P2084L probably benign Het
Fat4 A G 3: 39,064,647 (GRCm39) R4868G probably damaging Het
Fbxo31 A T 8: 122,282,014 (GRCm39) Y295* probably null Het
Fmn2 C A 1: 174,437,404 (GRCm39) T1125N possibly damaging Het
Foxi2 C A 7: 135,012,133 (GRCm39) P7Q probably damaging Het
Hmx1 C T 5: 35,549,100 (GRCm39) P131L probably damaging Het
Hrh2 T C 13: 54,368,171 (GRCm39) L49P probably damaging Het
Hycc2 T C 1: 58,585,285 (GRCm39) T171A possibly damaging Het
Igkv6-14 A G 6: 70,412,125 (GRCm39) V53A possibly damaging Het
Kcnb2 C A 1: 15,780,876 (GRCm39) Q583K probably benign Het
Kcns3 A G 12: 11,141,692 (GRCm39) S336P probably damaging Het
Kremen2 G T 17: 23,961,720 (GRCm39) F262L probably damaging Het
Krtap9-1 T A 11: 99,764,577 (GRCm39) C104* probably null Het
Ky A G 9: 102,405,102 (GRCm39) Y199C probably damaging Het
L1td1 T G 4: 98,622,215 (GRCm39) L259R probably damaging Het
Lrba A G 3: 86,261,062 (GRCm39) T1473A probably benign Het
Lrp6 A T 6: 134,484,624 (GRCm39) L333* probably null Het
Lrrc23 T C 6: 124,753,043 (GRCm39) N201S probably benign Het
Map4k4 C A 1: 40,043,142 (GRCm39) P666T possibly damaging Het
Matn1 T A 4: 130,679,514 (GRCm39) D389E probably damaging Het
Mdc1 G T 17: 36,158,475 (GRCm39) G285V probably benign Het
Mettl17 T C 14: 52,128,187 (GRCm39) probably null Het
Mknk1 A T 4: 115,730,506 (GRCm39) probably benign Het
Neurod1 A T 2: 79,284,430 (GRCm39) F318I possibly damaging Het
Nfya T C 17: 48,699,445 (GRCm39) T213A probably damaging Het
Nmrk1 C T 19: 18,616,902 (GRCm39) T17M probably damaging Het
Ntrk1 A C 3: 87,693,396 (GRCm39) D245E probably benign Het
Nup160 C A 2: 90,563,545 (GRCm39) H1370Q possibly damaging Het
Or11h6 A C 14: 50,880,703 (GRCm39) K316Q probably benign Het
Or5w8 T C 2: 87,688,161 (GRCm39) V214A probably benign Het
Or6x1 T A 9: 40,098,663 (GRCm39) V84E probably damaging Het
Parp4 G A 14: 56,866,556 (GRCm39) R1040H probably benign Het
Pdia4 C A 6: 47,785,200 (GRCm39) E56* probably null Het
Pdia5 A G 16: 35,269,784 (GRCm39) F175S probably damaging Het
Piezo2 C T 18: 63,242,956 (GRCm39) S621N probably benign Het
Pigw T C 11: 84,768,643 (GRCm39) T229A possibly damaging Het
Rasa3 T C 8: 13,626,381 (GRCm39) Y734C probably benign Het
Rims1 T C 1: 22,633,181 (GRCm39) D178G possibly damaging Het
Ros1 A G 10: 51,954,769 (GRCm39) V1853A possibly damaging Het
Rps7 A G 12: 28,681,714 (GRCm39) I139T probably benign Het
Sall3 T C 18: 81,029,708 (GRCm39) D15G possibly damaging Het
Scn1a A T 2: 66,133,983 (GRCm39) V137D probably benign Het
Slc23a3 G A 1: 75,106,173 (GRCm39) P349S probably benign Het
Slc35a5 C G 16: 44,964,021 (GRCm39) R404P probably damaging Het
Stard13 A T 5: 150,986,607 (GRCm39) M301K probably benign Het
Suclg2 A G 6: 95,632,489 (GRCm39) F60S probably damaging Het
Tecpr2 T A 12: 110,904,668 (GRCm39) F887L possibly damaging Het
Tekt4 G T 17: 25,691,033 (GRCm39) W113L probably damaging Het
Tep1 G A 14: 51,085,080 (GRCm39) S901F probably damaging Het
Tex11 C T X: 100,059,191 (GRCm39) V190I possibly damaging Het
Thbs1 T A 2: 117,949,957 (GRCm39) probably null Het
Tm9sf4 T A 2: 153,040,295 (GRCm39) V425D probably damaging Het
Tpo A G 12: 30,105,137 (GRCm39) L911P possibly damaging Het
Ttn T C 2: 76,729,301 (GRCm39) Q5332R unknown Het
Wdr59 A T 8: 112,223,466 (GRCm39) D169E Het
Zfp799 C A 17: 33,039,166 (GRCm39) G367C 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
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
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
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'- TCCAAGCCAGCAGTTTAGCC -3'
(R):5'- CTGTTCTAACACAGTACTTATCTGC -3'

Sequencing Primer
(F):5'- CCAAACAGGCCAGTATTTTCAGTCTG -3'
(R):5'- ATCTGCTTTAGTCTATCACATGGTAC -3'
Posted On 2021-11-17