Incidental Mutation 'R8805:Rfx7'
ID |
672009 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Rfx7
|
Ensembl Gene |
ENSMUSG00000037674 |
Gene Name |
regulatory factor X, 7 |
Synonyms |
2510005N23Rik, D130086K05Rik, 9930116O05Rik, Rfxdc2 |
MMRRC Submission |
068642-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.904)
|
Stock # |
R8805 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
9 |
Chromosomal Location |
72439522-72530219 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 72524316 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Isoleucine
at position 502
(T502I)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000127192
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000093820]
[ENSMUST00000163401]
[ENSMUST00000183372]
[ENSMUST00000184015]
|
AlphaFold |
F8VPJ6 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000093820
AA Change: T502I
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000091338 Gene: ENSMUSG00000037674 AA Change: T502I
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 benign
Transcript: ENSMUST00000163401
AA Change: T502I
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000127192 Gene: ENSMUSG00000037674 AA Change: T502I
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 |
probably benign
Transcript: ENSMUST00000183372
|
SMART Domains |
Protein: ENSMUSP00000139195 Gene: ENSMUSG00000037674
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 |
probably benign
Transcript: ENSMUST00000184015
|
SMART Domains |
Protein: ENSMUSP00000138957 Gene: ENSMUSG00000037674
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 |
|
Meta Mutation Damage Score |
0.0683 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
Validation Efficiency |
96% (70/73) |
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: 77 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700010I14Rik |
G |
A |
17: 9,226,737 (GRCm39) |
W467* |
probably null |
Het |
4921509C19Rik |
A |
T |
2: 151,313,285 (GRCm39) |
|
probably benign |
Het |
Actl6b |
G |
A |
5: 137,552,918 (GRCm39) |
M82I |
probably benign |
Het |
Bmp2 |
T |
A |
2: 133,403,254 (GRCm39) |
D268E |
probably damaging |
Het |
Cacng7 |
T |
A |
7: 3,415,298 (GRCm39) |
L221H |
probably damaging |
Het |
Ccser2 |
A |
G |
14: 36,601,712 (GRCm39) |
V224A |
probably damaging |
Het |
Cdc40 |
A |
G |
10: 40,733,576 (GRCm39) |
F125L |
probably damaging |
Het |
Cfap46 |
C |
T |
7: 139,211,979 (GRCm39) |
A1669T |
unknown |
Het |
Cfap58 |
A |
T |
19: 47,941,535 (GRCm39) |
E301V |
probably damaging |
Het |
Clcn2 |
C |
A |
16: 20,532,168 (GRCm39) |
G96C |
probably damaging |
Het |
Cotl1 |
T |
A |
8: 120,536,944 (GRCm39) |
|
probably benign |
Het |
Cps1 |
G |
A |
1: 67,216,110 (GRCm39) |
A812T |
probably damaging |
Het |
Cracd |
T |
C |
5: 77,006,489 (GRCm39) |
V950A |
unknown |
Het |
Crnkl1 |
T |
C |
2: 145,773,350 (GRCm39) |
|
probably null |
Het |
Cry1 |
A |
G |
10: 84,992,969 (GRCm39) |
V83A |
probably benign |
Het |
Cyp2a5 |
G |
T |
7: 26,540,530 (GRCm39) |
R381L |
probably damaging |
Het |
Cyp46a1 |
T |
C |
12: 108,327,462 (GRCm39) |
F425L |
probably damaging |
Het |
Dek |
A |
T |
13: 47,252,930 (GRCm39) |
N158K |
unknown |
Het |
Dgcr8 |
T |
A |
16: 18,076,161 (GRCm39) |
Q674L |
probably damaging |
Het |
Dlec1 |
C |
A |
9: 118,941,650 (GRCm39) |
S345R |
probably benign |
Het |
Dnah7b |
T |
A |
1: 46,273,305 (GRCm39) |
C2478S |
possibly damaging |
Het |
Dstyk |
T |
A |
1: 132,361,963 (GRCm39) |
L131Q |
probably damaging |
Het |
Fbxw7 |
T |
A |
3: 84,862,227 (GRCm39) |
L186M |
|
Het |
Fn1 |
T |
C |
1: 71,644,239 (GRCm39) |
Q1684R |
probably benign |
Het |
Fsip2 |
C |
A |
2: 82,813,453 (GRCm39) |
H3257Q |
possibly damaging |
Het |
Gm5773 |
T |
C |
3: 93,681,042 (GRCm39) |
V238A |
probably damaging |
Het |
Gm9611 |
T |
C |
14: 42,116,657 (GRCm39) |
D131G |
|
Het |
Gpatch8 |
T |
C |
11: 102,371,018 (GRCm39) |
E840G |
unknown |
Het |
Grm5 |
G |
A |
7: 87,453,176 (GRCm39) |
R271Q |
probably damaging |
Het |
Has3 |
A |
T |
8: 107,601,135 (GRCm39) |
Y199F |
probably damaging |
Het |
Hmcn2 |
A |
G |
2: 31,315,393 (GRCm39) |
N3714S |
probably benign |
Het |
Idh1 |
CA |
CAA |
1: 65,204,347 (GRCm39) |
|
probably null |
Het |
Il2 |
T |
A |
3: 37,177,282 (GRCm39) |
T85S |
possibly damaging |
Het |
Kank4 |
T |
C |
4: 98,668,273 (GRCm39) |
H58R |
possibly damaging |
Het |
Kcnk4 |
T |
A |
19: 6,905,379 (GRCm39) |
I154F |
probably damaging |
Het |
Krt1c |
T |
C |
15: 101,724,379 (GRCm39) |
K295R |
possibly damaging |
Het |
Lipm |
A |
T |
19: 34,090,308 (GRCm39) |
D163V |
probably damaging |
Het |
Lpl |
A |
G |
8: 69,340,215 (GRCm39) |
N70S |
probably damaging |
Het |
Mgme1 |
A |
G |
2: 144,114,451 (GRCm39) |
|
probably benign |
Het |
Mnd1 |
T |
A |
3: 83,995,432 (GRCm39) |
E187D |
probably benign |
Het |
Morn5 |
A |
G |
2: 35,969,533 (GRCm39) |
D149G |
probably benign |
Het |
Mrrf |
G |
A |
2: 36,037,965 (GRCm39) |
V79I |
probably damaging |
Het |
Msh4 |
T |
A |
3: 153,563,270 (GRCm39) |
Q896L |
probably benign |
Het |
Mtus2 |
A |
C |
5: 148,015,303 (GRCm39) |
M699L |
possibly damaging |
Het |
Mycbp |
T |
A |
4: 123,803,880 (GRCm39) |
C130S |
unknown |
Het |
Ntn5 |
A |
T |
7: 45,333,899 (GRCm39) |
Y4F |
probably benign |
Het |
Or7e174 |
T |
C |
9: 20,012,580 (GRCm39) |
V175A |
probably benign |
Het |
Osm |
A |
G |
11: 4,189,839 (GRCm39) |
S208G |
probably benign |
Het |
Pcsk6 |
T |
A |
7: 65,578,891 (GRCm39) |
Y222N |
possibly damaging |
Het |
Pde6a |
A |
G |
18: 61,390,104 (GRCm39) |
E486G |
probably benign |
Het |
Pdzk1 |
T |
A |
3: 96,758,910 (GRCm39) |
L105Q |
possibly damaging |
Het |
Prkd1 |
C |
G |
12: 50,435,155 (GRCm39) |
S524T |
probably benign |
Het |
Prkd1 |
T |
A |
12: 50,435,156 (GRCm39) |
S524C |
probably damaging |
Het |
Rab4b |
T |
C |
7: 26,874,148 (GRCm39) |
I90V |
|
Het |
Rc3h1 |
T |
C |
1: 160,795,222 (GRCm39) |
V1083A |
probably benign |
Het |
Rtn4rl2 |
T |
C |
2: 84,702,558 (GRCm39) |
Y332C |
probably damaging |
Het |
Senp2 |
A |
G |
16: 21,846,789 (GRCm39) |
T265A |
probably benign |
Het |
Slc38a3 |
T |
C |
9: 107,532,345 (GRCm39) |
M396V |
probably benign |
Het |
Sord |
G |
A |
2: 122,094,607 (GRCm39) |
V332I |
probably benign |
Het |
Sprr1b |
GTGGCAGGGCTCAGGAGCCTTGGGGTGGCAGGGCTCAGGAGCCTTGGGATGGCAGGGCTCAGGAGCCTTGGGGTGGCAGGGCTCAGGA |
GTGGCAGGGCTCAGGAGCCTTGGGGTGGCAGGGCTCAGGA |
3: 92,344,653 (GRCm39) |
|
probably benign |
Het |
Star |
G |
A |
8: 26,299,577 (GRCm39) |
R53H |
probably benign |
Het |
Stard4 |
T |
G |
18: 33,336,749 (GRCm39) |
I189L |
possibly damaging |
Het |
Stk38 |
G |
T |
17: 29,219,094 (GRCm39) |
T7K |
probably benign |
Het |
Stxbp5 |
T |
A |
10: 9,713,859 (GRCm39) |
K227* |
probably null |
Het |
Taf4b |
C |
T |
18: 14,946,485 (GRCm39) |
P436L |
possibly damaging |
Het |
Tgm3 |
T |
A |
2: 129,889,702 (GRCm39) |
V632E |
probably damaging |
Het |
Tmem158 |
A |
G |
9: 123,089,309 (GRCm39) |
F101S |
probably damaging |
Het |
Trmt10b |
T |
C |
4: 45,301,281 (GRCm39) |
S77P |
probably benign |
Het |
Ttn |
A |
T |
2: 76,720,307 (GRCm39) |
L6973* |
probably null |
Het |
Tubal3 |
T |
C |
13: 3,983,293 (GRCm39) |
F358L |
probably damaging |
Het |
Tut4 |
T |
C |
4: 108,406,575 (GRCm39) |
V1381A |
possibly damaging |
Het |
Vmn1r214 |
C |
T |
13: 23,219,273 (GRCm39) |
L256F |
possibly damaging |
Het |
Vmn2r86 |
A |
G |
10: 130,282,396 (GRCm39) |
V740A |
probably benign |
Het |
Yipf1 |
A |
T |
4: 107,193,355 (GRCm39) |
E80D |
probably benign |
Het |
Zdhhc2 |
G |
T |
8: 40,898,846 (GRCm39) |
|
probably null |
Het |
Zfp655 |
C |
T |
5: 145,181,290 (GRCm39) |
H383Y |
probably damaging |
Het |
Zfp981 |
C |
T |
4: 146,622,410 (GRCm39) |
T445I |
possibly damaging |
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 |
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 |
|
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'- TCAGAACGTTCCAGCCAGTC -3'
(R):5'- CCTCAGAGTTCTCTTGGCAC -3'
Sequencing Primer
(F):5'- GTTCTGCCAGACACCGCTAC -3'
(R):5'- CACTGGAGAGGATGCTCATCTG -3'
|
Posted On |
2021-04-30 |