Incidental Mutation 'R1605:Rfx7'
ID |
176411 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Rfx7
|
Ensembl Gene |
ENSMUSG00000037674 |
Gene Name |
regulatory factor X, 7 |
Synonyms |
2510005N23Rik, D130086K05Rik, 9930116O05Rik, Rfxdc2 |
MMRRC Submission |
039642-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.904)
|
Stock # |
R1605 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
9 |
Chromosomal Location |
72439522-72530219 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 72519071 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Proline
at position 258
(S258P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000138957
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000093820]
[ENSMUST00000163401]
[ENSMUST00000183372]
[ENSMUST00000184015]
|
AlphaFold |
F8VPJ6 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000093820
AA Change: S258P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000091338 Gene: ENSMUSG00000037674 AA Change: S258P
Domain | Start | End | E-Value | Type |
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: S258P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000127192 Gene: ENSMUSG00000037674 AA Change: S258P
Domain | Start | End | E-Value | Type |
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: S258P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000139195 Gene: ENSMUSG00000037674 AA Change: S258P
Domain | Start | End | E-Value | Type |
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: S258P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000138957 Gene: ENSMUSG00000037674 AA Change: S258P
Domain | Start | End | E-Value | Type |
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
|
Meta Mutation Damage Score |
0.4987 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.4%
- 10x: 96.5%
- 20x: 93.3%
|
Validation Efficiency |
99% (75/76) |
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: 72 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
5730409E04Rik |
A |
G |
4: 126,506,104 (GRCm39) |
K211E |
probably damaging |
Het |
Acot7 |
A |
G |
4: 152,291,285 (GRCm39) |
I84V |
possibly damaging |
Het |
Ankrd44 |
A |
G |
1: 54,867,781 (GRCm39) |
V34A |
probably benign |
Het |
Atp4b |
A |
T |
8: 13,443,489 (GRCm39) |
M63K |
probably damaging |
Het |
Atr |
T |
A |
9: 95,818,516 (GRCm39) |
I2163K |
probably damaging |
Het |
Azgp1 |
A |
T |
5: 137,983,426 (GRCm39) |
R34* |
probably null |
Het |
Ccdc152 |
T |
G |
15: 3,327,603 (GRCm39) |
K58T |
probably damaging |
Het |
Ccdc88b |
T |
A |
19: 6,827,837 (GRCm39) |
Q912L |
probably benign |
Het |
Cdc42ep5 |
T |
A |
7: 4,154,395 (GRCm39) |
H131L |
probably benign |
Het |
Chd7 |
G |
A |
4: 8,844,675 (GRCm39) |
E1595K |
probably damaging |
Het |
Col11a1 |
G |
A |
3: 113,925,290 (GRCm39) |
G41D |
probably damaging |
Het |
Cyp2b23 |
C |
T |
7: 26,385,843 (GRCm39) |
V5I |
probably benign |
Het |
D430041D05Rik |
A |
G |
2: 104,085,915 (GRCm39) |
V22A |
possibly damaging |
Het |
Ddi1 |
T |
C |
9: 6,266,012 (GRCm39) |
Y119C |
probably benign |
Het |
Dysf |
T |
C |
6: 84,083,923 (GRCm39) |
L785P |
probably damaging |
Het |
Eqtn |
T |
A |
4: 94,816,587 (GRCm39) |
T69S |
possibly damaging |
Het |
F11 |
T |
A |
8: 45,694,617 (GRCm39) |
K581N |
probably damaging |
Het |
Gli2 |
G |
A |
1: 118,782,290 (GRCm39) |
P172S |
probably damaging |
Het |
Gm7579 |
G |
T |
7: 141,765,603 (GRCm39) |
C3F |
unknown |
Het |
Grin2a |
A |
G |
16: 9,481,194 (GRCm39) |
V501A |
possibly damaging |
Het |
Grk4 |
G |
A |
5: 34,831,901 (GRCm39) |
D57N |
probably damaging |
Het |
Gsdma |
A |
T |
11: 98,557,319 (GRCm39) |
D86V |
probably damaging |
Het |
Gsx1 |
A |
G |
5: 147,126,738 (GRCm39) |
E187G |
probably damaging |
Het |
Hdac1-ps |
A |
G |
17: 78,799,537 (GRCm39) |
D176G |
probably damaging |
Het |
Inpp5k |
T |
A |
11: 75,524,307 (GRCm39) |
F75L |
probably benign |
Het |
Itpr1 |
T |
C |
6: 108,326,620 (GRCm39) |
V114A |
possibly damaging |
Het |
Izumo3 |
A |
T |
4: 92,032,977 (GRCm39) |
C130S |
probably damaging |
Het |
Mei4 |
G |
A |
9: 81,809,639 (GRCm39) |
E241K |
possibly damaging |
Het |
Mocs2 |
T |
C |
13: 114,961,120 (GRCm39) |
V39A |
probably benign |
Het |
Mroh2b |
G |
A |
15: 4,974,572 (GRCm39) |
R1184H |
probably benign |
Het |
Msh3 |
T |
C |
13: 92,436,783 (GRCm39) |
Q509R |
probably null |
Het |
Myh8 |
T |
C |
11: 67,192,497 (GRCm39) |
W1459R |
probably damaging |
Het |
Mypop |
T |
A |
7: 18,734,918 (GRCm39) |
|
probably benign |
Het |
Ndc1 |
C |
A |
4: 107,225,293 (GRCm39) |
T3K |
probably damaging |
Het |
Nf1 |
A |
C |
11: 79,331,749 (GRCm39) |
M695L |
probably benign |
Het |
Nup50l |
A |
G |
6: 96,141,793 (GRCm39) |
M417T |
probably benign |
Het |
Nutm2 |
C |
A |
13: 50,623,955 (GRCm39) |
D217E |
possibly damaging |
Het |
Or52a20 |
T |
C |
7: 103,365,858 (GRCm39) |
I19T |
probably damaging |
Het |
Or5b122 |
A |
G |
19: 13,562,994 (GRCm39) |
T109A |
probably benign |
Het |
Pde6c |
C |
A |
19: 38,129,940 (GRCm39) |
D283E |
probably damaging |
Het |
Phldb2 |
A |
G |
16: 45,591,142 (GRCm39) |
|
probably benign |
Het |
Pigt |
G |
C |
2: 164,349,419 (GRCm39) |
R574P |
probably damaging |
Het |
Pkd1 |
T |
C |
17: 24,796,500 (GRCm39) |
I2354T |
possibly damaging |
Het |
Prdm15 |
T |
C |
16: 97,640,506 (GRCm39) |
E27G |
probably damaging |
Het |
Ptpn14 |
A |
G |
1: 189,597,709 (GRCm39) |
I1140V |
probably benign |
Het |
Rdx |
T |
C |
9: 51,974,891 (GRCm39) |
V9A |
probably damaging |
Het |
Rnf17 |
G |
T |
14: 56,730,822 (GRCm39) |
G1209C |
probably damaging |
Het |
S1pr4 |
C |
T |
10: 81,335,225 (GRCm39) |
|
probably null |
Het |
Scml2 |
G |
T |
X: 160,014,442 (GRCm39) |
E566D |
possibly damaging |
Het |
Serpinb1b |
T |
A |
13: 33,277,646 (GRCm39) |
V293E |
possibly damaging |
Het |
Serpinb9b |
T |
C |
13: 33,222,112 (GRCm39) |
|
probably null |
Het |
Sez6l |
A |
C |
5: 112,622,915 (GRCm39) |
I212S |
probably damaging |
Het |
Son |
T |
C |
16: 91,454,552 (GRCm39) |
S1100P |
probably damaging |
Het |
Spag9 |
G |
A |
11: 93,939,365 (GRCm39) |
R98H |
probably damaging |
Het |
Spata31e2 |
A |
T |
1: 26,723,511 (GRCm39) |
H556Q |
possibly damaging |
Het |
St3gal5 |
T |
C |
6: 72,119,272 (GRCm39) |
L128P |
probably benign |
Het |
Stra6 |
A |
T |
9: 58,059,166 (GRCm39) |
M510L |
probably benign |
Het |
Stxbp5l |
A |
G |
16: 37,028,473 (GRCm39) |
V530A |
probably benign |
Het |
Tatdn1 |
A |
G |
15: 58,793,039 (GRCm39) |
|
probably benign |
Het |
Tbc1d8 |
A |
G |
1: 39,430,206 (GRCm39) |
S466P |
probably benign |
Het |
Tmem199 |
A |
T |
11: 78,399,152 (GRCm39) |
M175K |
possibly damaging |
Het |
Trmt12 |
A |
G |
15: 58,744,764 (GRCm39) |
E54G |
probably benign |
Het |
Usp37 |
G |
T |
1: 74,532,163 (GRCm39) |
Q77K |
possibly damaging |
Het |
Vezf1 |
A |
G |
11: 87,967,125 (GRCm39) |
I301V |
possibly damaging |
Het |
Vmn1r34 |
T |
G |
6: 66,613,932 (GRCm39) |
M269L |
probably benign |
Het |
Wdr93 |
C |
A |
7: 79,421,257 (GRCm39) |
|
probably null |
Het |
Wnk2 |
T |
C |
13: 49,214,370 (GRCm39) |
D644G |
probably damaging |
Het |
Zc3h13 |
C |
T |
14: 75,574,923 (GRCm39) |
R1591* |
probably null |
Het |
Zfp131 |
G |
A |
13: 120,230,316 (GRCm39) |
L371F |
probably damaging |
Het |
Zfp180 |
T |
A |
7: 23,804,049 (GRCm39) |
V156D |
probably benign |
Het |
Zfp646 |
G |
T |
7: 127,479,359 (GRCm39) |
|
probably null |
Het |
Zscan12 |
C |
A |
13: 21,550,813 (GRCm39) |
T144K |
probably benign |
Het |
|
Other mutations in Rfx7 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH 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 |
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'- TGGGCAGCTTCAAAATATTGATGAGGA -3'
(R):5'- TGGGACAGGAGCCTAGCACATAATTT -3'
Sequencing Primer
(F):5'- AGGAAGTTATCTCTTCTGCTTGC -3'
(R):5'- ctctcccttcatcattctgtttc -3'
|
Posted On |
2014-04-24 |