Incidental Mutation 'R7857:Rfx7'
| ID |
607286 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rfx7
|
| Ensembl Gene |
ENSMUSG00000037674 |
| Gene Name |
regulatory factor X, 7 |
| Synonyms |
2510005N23Rik, D130086K05Rik, 9930116O05Rik, Rfxdc2 |
| MMRRC Submission |
045910-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.901)
|
| Stock # |
R7857 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
72439522-72530219 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 72500605 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 122
(T122A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000139195
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000093820]
[ENSMUST00000163401]
[ENSMUST00000183372]
[ENSMUST00000184015]
|
| AlphaFold |
F8VPJ6 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000093820
AA Change: T122A
PolyPhen 2
Score 0.724 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000091338
Gene: ENSMUSG00000037674
AA Change: T122A
| 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 |
possibly damaging
Transcript: ENSMUST00000163401
AA Change: T122A
PolyPhen 2
Score 0.724 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000127192
Gene: ENSMUSG00000037674
AA Change: T122A
| 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 |
possibly damaging
Transcript: ENSMUST00000183372
AA Change: T122A
PolyPhen 2
Score 0.889 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000139195
Gene: ENSMUSG00000037674
AA Change: T122A
| 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 |
possibly damaging
Transcript: ENSMUST00000184015
AA Change: T122A
PolyPhen 2
Score 0.889 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000138957
Gene: ENSMUSG00000037674
AA Change: T122A
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.2%
|
| 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: 61 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam6b |
A |
T |
12: 113,454,104 (GRCm39) |
N307I |
probably benign |
Het |
| Ahnak |
G |
A |
19: 8,984,832 (GRCm39) |
V2039M |
probably damaging |
Het |
| Arhgef40 |
T |
A |
14: 52,226,212 (GRCm39) |
H85Q |
probably damaging |
Het |
| Ash1l |
T |
A |
3: 88,891,616 (GRCm39) |
L1165* |
probably null |
Het |
| Cck |
A |
G |
9: 121,322,514 (GRCm39) |
W100R |
probably damaging |
Het |
| Cdon |
A |
G |
9: 35,367,908 (GRCm39) |
R268G |
possibly damaging |
Het |
| Cldn12 |
T |
C |
5: 5,558,209 (GRCm39) |
T73A |
probably benign |
Het |
| Cnot1 |
ACG |
A |
8: 96,472,275 (GRCm39) |
|
probably null |
Het |
| Ctnnd2 |
A |
T |
15: 30,620,076 (GRCm39) |
T143S |
probably benign |
Het |
| Cyp2b13 |
T |
A |
7: 25,788,153 (GRCm39) |
L427Q |
possibly damaging |
Het |
| Dnah3 |
A |
T |
7: 119,550,927 (GRCm39) |
Y152N |
probably damaging |
Het |
| Dsg1b |
A |
T |
18: 20,529,520 (GRCm39) |
M322L |
probably benign |
Het |
| Efhc1 |
T |
C |
1: 21,045,226 (GRCm39) |
M414T |
probably benign |
Het |
| Elp3 |
G |
A |
14: 65,800,759 (GRCm39) |
T302M |
probably benign |
Het |
| Entpd6 |
T |
C |
2: 150,607,473 (GRCm39) |
|
probably null |
Het |
| Epb41l4a |
G |
T |
18: 34,139,098 (GRCm39) |
C13* |
probably null |
Het |
| Ephb6 |
T |
C |
6: 41,590,331 (GRCm39) |
S28P |
probably benign |
Het |
| Fbxo21 |
T |
C |
5: 118,126,878 (GRCm39) |
S210P |
probably benign |
Het |
| Gapvd1 |
T |
A |
2: 34,619,079 (GRCm39) |
E98V |
probably benign |
Het |
| Gcdh |
A |
G |
8: 85,619,093 (GRCm39) |
V157A |
probably damaging |
Het |
| Gm10638 |
G |
T |
8: 87,472,891 (GRCm39) |
R188L |
unknown |
Het |
| Grk3 |
T |
C |
5: 113,109,427 (GRCm39) |
T177A |
unknown |
Het |
| Gsc |
T |
G |
12: 104,438,424 (GRCm39) |
E148A |
probably damaging |
Het |
| Hacd4 |
C |
T |
4: 88,355,702 (GRCm39) |
G61E |
probably damaging |
Het |
| Herc3 |
G |
A |
6: 58,820,637 (GRCm39) |
W7* |
probably null |
Het |
| Il1rl2 |
T |
C |
1: 40,366,642 (GRCm39) |
Y59H |
probably benign |
Het |
| Irag1 |
T |
A |
7: 110,522,742 (GRCm39) |
K234* |
probably null |
Het |
| Kif1c |
A |
G |
11: 70,619,103 (GRCm39) |
T913A |
probably benign |
Het |
| Lipg |
C |
T |
18: 75,078,891 (GRCm39) |
G454R |
probably damaging |
Het |
| Lrrc74a |
A |
G |
12: 86,788,485 (GRCm39) |
D155G |
probably benign |
Het |
| Ltf |
A |
T |
9: 110,851,444 (GRCm39) |
I137F |
probably benign |
Het |
| Med19 |
T |
A |
2: 84,515,969 (GRCm39) |
M166K |
probably damaging |
Het |
| Mei1 |
A |
T |
15: 81,976,918 (GRCm39) |
Y167F |
not run |
Het |
| Ncaph |
A |
C |
2: 126,946,165 (GRCm39) |
D724E |
probably damaging |
Het |
| Neb |
T |
A |
2: 52,112,996 (GRCm39) |
D4266V |
probably damaging |
Het |
| Npffr1 |
G |
T |
10: 61,449,765 (GRCm39) |
W13L |
probably benign |
Het |
| Or51b6 |
A |
T |
7: 103,555,817 (GRCm39) |
H54L |
|
Het |
| Pcdha12 |
A |
T |
18: 37,155,468 (GRCm39) |
D729V |
probably benign |
Het |
| Pcdha7 |
A |
T |
18: 37,108,892 (GRCm39) |
E639V |
probably damaging |
Het |
| Pcdhb18 |
A |
T |
18: 37,624,364 (GRCm39) |
M565L |
probably benign |
Het |
| Plcd3 |
A |
T |
11: 102,968,760 (GRCm39) |
D310E |
probably benign |
Het |
| Pmm2 |
C |
G |
16: 8,460,632 (GRCm39) |
Q29E |
probably benign |
Het |
| Poli |
T |
G |
18: 70,642,225 (GRCm39) |
E658D |
probably benign |
Het |
| Prss22 |
G |
A |
17: 24,212,853 (GRCm39) |
R295C |
probably damaging |
Het |
| Psg26 |
A |
G |
7: 18,212,215 (GRCm39) |
I380T |
possibly damaging |
Het |
| Reep5 |
A |
T |
18: 34,505,521 (GRCm39) |
V50E |
possibly damaging |
Het |
| Robo1 |
A |
G |
16: 72,767,099 (GRCm39) |
N424D |
probably damaging |
Het |
| Slc4a7 |
T |
C |
14: 14,772,624 (GRCm38) |
V711A |
probably benign |
Het |
| Smc4 |
T |
C |
3: 68,940,552 (GRCm39) |
V1162A |
possibly damaging |
Het |
| Snta1 |
A |
T |
2: 154,225,817 (GRCm39) |
L189H |
probably benign |
Het |
| Tmem121 |
C |
T |
12: 113,152,696 (GRCm39) |
R305C |
possibly damaging |
Het |
| Tmem68 |
A |
G |
4: 3,551,825 (GRCm39) |
V271A |
probably damaging |
Het |
| Tmx4 |
T |
G |
2: 134,481,582 (GRCm39) |
M114L |
probably benign |
Het |
| Trps1 |
T |
A |
15: 50,524,401 (GRCm39) |
R1176S |
probably damaging |
Het |
| Usp21 |
A |
G |
1: 171,114,335 (GRCm39) |
L63P |
probably benign |
Het |
| Vmn2r84 |
T |
A |
10: 130,226,738 (GRCm39) |
M367L |
probably benign |
Het |
| Wbp2nl |
A |
G |
15: 82,190,273 (GRCm39) |
N67S |
probably benign |
Het |
| Wdr35 |
T |
C |
12: 9,058,113 (GRCm39) |
|
probably null |
Het |
| Zfp236 |
G |
A |
18: 82,686,726 (GRCm39) |
Q271* |
probably null |
Het |
| Zfp831 |
T |
C |
2: 174,547,035 (GRCm39) |
V1406A |
probably benign |
Het |
| Zfp934 |
G |
A |
13: 62,665,361 (GRCm39) |
H459Y |
|
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 |
|
|
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'- ACTGCGTATCTACTGTATGTCC -3'
(R):5'- CATTCTAGCACAGAAGCTTAGAGC -3'
Sequencing Primer
(F):5'- ATGTCCTAAGTTCAGTTTGATCCG -3'
(R):5'- CTTAGAGCTGGTAGTAATCTTGGAAG -3'
|
| Posted On |
2019-12-20 |
Incidental Mutation