Incidental Mutation 'R4243:Rfx7'
ID 320309
Institutional Source Beutler Lab
Gene Symbol Rfx7
Ensembl Gene ENSMUSG00000037674
Gene Name regulatory factor X, 7
Synonyms 2510005N23Rik, D130086K05Rik, 9930116O05Rik, Rfxdc2
MMRRC Submission 041643-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.904) question?
Stock # R4243 (G1)
Quality Score 225
Status Validated
Chromosome 9
Chromosomal Location 72439522-72530219 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 72499051 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 72 (T72A)
Ref Sequence ENSEMBL: ENSMUSP00000127192 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000093820] [ENSMUST00000163401] [ENSMUST00000183372] [ENSMUST00000184015]
AlphaFold F8VPJ6
Predicted Effect possibly damaging
Transcript: ENSMUST00000093820
AA Change: T72A

PolyPhen 2 Score 0.935 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000091338
Gene: ENSMUSG00000037674
AA Change: T72A

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: T72A

PolyPhen 2 Score 0.935 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000127192
Gene: ENSMUSG00000037674
AA Change: T72A

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 possibly damaging
Transcript: ENSMUST00000183372
AA Change: T72A

PolyPhen 2 Score 0.757 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000139195
Gene: ENSMUSG00000037674
AA Change: T72A

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 possibly damaging
Transcript: ENSMUST00000184015
AA Change: T72A

PolyPhen 2 Score 0.757 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000138957
Gene: ENSMUSG00000037674
AA Change: T72A

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: ENSMUST00000184851
Predicted Effect noncoding transcript
Transcript: ENSMUST00000192251
Meta Mutation Damage Score 0.1795 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.8%
  • 10x: 97.6%
  • 20x: 96.0%
Validation Efficiency 100% (50/50)
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: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1500011B03Rik C A 5: 114,951,855 (GRCm39) R40L possibly damaging Het
4930449A18Rik T A 3: 59,733,203 (GRCm39) noncoding transcript Het
4930578I06Rik C T 14: 64,210,658 (GRCm39) R190H probably benign Het
4933409G03Rik C T 2: 68,423,887 (GRCm39) probably benign Het
Actr1b T C 1: 36,740,911 (GRCm39) Y171C possibly damaging Het
Birc2 T C 9: 7,834,386 (GRCm39) T32A probably benign Het
Cdh13 T A 8: 119,968,996 (GRCm39) V451E probably damaging Het
Cdh20 C T 1: 104,869,868 (GRCm39) T196I probably damaging Het
Cdt1 A G 8: 123,298,157 (GRCm39) M383V probably benign Het
Chrna9 T C 5: 66,092,379 (GRCm39) probably null Het
Cpne9 C T 6: 113,259,984 (GRCm39) probably benign Het
Cspg4 T C 9: 56,795,141 (GRCm39) S959P probably benign Het
Ctbp2 A G 7: 132,600,583 (GRCm39) I647T probably benign Het
Cyld A T 8: 89,457,383 (GRCm39) R536* probably null Het
Ddx1 A T 12: 13,290,910 (GRCm39) C68* probably null Het
Dock10 T A 1: 80,544,472 (GRCm39) E905V probably benign Het
Dynlt1b T C 17: 6,697,639 (GRCm39) probably null Het
Faxc G A 4: 21,982,491 (GRCm39) R310Q probably benign Het
Fhdc1 C A 3: 84,352,133 (GRCm39) V1031F probably benign Het
Frmd5 C A 2: 121,393,363 (GRCm39) probably null Het
Gm5174 C A 10: 86,492,144 (GRCm39) noncoding transcript Het
Hspa12b C T 2: 130,983,778 (GRCm39) H293Y possibly damaging Het
Jakmip2 A G 18: 43,710,501 (GRCm39) V234A probably benign Het
Jkamp G A 12: 72,140,799 (GRCm39) V108I probably benign Het
Mettl23 T C 11: 116,739,126 (GRCm39) V72A possibly damaging Het
Morc2b T A 17: 33,355,375 (GRCm39) Y799F probably benign Het
Mtmr11 T A 3: 96,075,393 (GRCm39) C358S probably damaging Het
Myo18b G A 5: 112,840,261 (GRCm39) H2511Y possibly damaging Het
Mysm1 A G 4: 94,857,248 (GRCm39) V120A probably benign Het
Nhlrc1 C T 13: 47,167,502 (GRCm39) V252I probably benign Het
Or12j3 G A 7: 139,952,857 (GRCm39) A222V probably benign Het
Or2ak6 T G 11: 58,593,277 (GRCm39) L250R probably damaging Het
Or7g35 C A 9: 19,495,854 (GRCm39) T7K probably damaging Het
Pard3 G A 8: 128,098,128 (GRCm39) A390T probably benign Het
Pcdhga1 T A 18: 37,796,605 (GRCm39) D536E probably damaging Het
Phactr3 G A 2: 177,924,982 (GRCm39) probably null Het
Pkn2 T C 3: 142,526,339 (GRCm39) N413D possibly damaging Het
Ppp1r12b T G 1: 134,709,846 (GRCm39) probably benign Het
Ptprf A G 4: 118,083,649 (GRCm39) probably null Het
Rab3gap1 T C 1: 127,865,304 (GRCm39) probably null Het
Rasa1 A G 13: 85,392,314 (GRCm39) Y407H probably damaging Het
Slc27a1 A G 8: 72,037,617 (GRCm39) T535A probably benign Het
Stra6 G A 9: 58,050,309 (GRCm39) A237T probably benign Het
Tor1aip2 A G 1: 155,941,182 (GRCm39) E496G probably damaging Het
Usp47 A G 7: 111,707,836 (GRCm39) D1294G probably damaging Het
Utp20 A G 10: 88,643,187 (GRCm39) probably null Het
Vmn1r79 T A 7: 11,910,971 (GRCm39) C284* probably null Het
Zar1 T C 5: 72,737,736 (GRCm39) E121G possibly damaging Het
Zbtb40 C T 4: 136,745,860 (GRCm39) A58T probably benign Het
Zfhx3 A G 8: 109,518,952 (GRCm39) T25A 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
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'- GGCAGGAATGACGTTTATTCAG -3'
(R):5'- GTGTTCAGACAAGCTTAGGAATAC -3'

Sequencing Primer
(F):5'- TTCACCTGCATAGTTCAAAGGGG -3'
(R):5'- ACAGCTTGGTACAGTCCT -3'
Posted On 2015-06-12