Incidental Mutation 'R2190:Rfx7'
ID |
238042 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Rfx7
|
Ensembl Gene |
ENSMUSG00000037674 |
Gene Name |
regulatory factor X, 7 |
Synonyms |
2510005N23Rik, D130086K05Rik, 9930116O05Rik, Rfxdc2 |
MMRRC Submission |
040192-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.904)
|
Stock # |
R2190 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
9 |
Chromosomal Location |
72439522-72530219 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 72525201 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Glycine
at position 797
(E797G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000127192
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000093820]
[ENSMUST00000163401]
|
AlphaFold |
F8VPJ6 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000093820
AA Change: E797G
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
SMART Domains |
Protein: ENSMUSP00000091338 Gene: ENSMUSG00000037674 AA Change: E797G
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: E797G
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
SMART Domains |
Protein: ENSMUSP00000127192 Gene: ENSMUSG00000037674 AA Change: E797G
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: ENSMUST00000183517
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000184373
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000185013
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.2%
|
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: 57 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aars1 |
A |
T |
8: 111,766,785 (GRCm39) |
T56S |
probably damaging |
Het |
Acbd6 |
A |
T |
1: 155,500,652 (GRCm39) |
H204L |
probably damaging |
Het |
Acnat2 |
T |
A |
4: 49,383,551 (GRCm39) |
M1L |
probably benign |
Het |
Adgrg5 |
A |
T |
8: 95,660,579 (GRCm39) |
I73F |
probably damaging |
Het |
Ankrd52 |
A |
G |
10: 128,219,487 (GRCm39) |
T474A |
probably benign |
Het |
Arid3a |
A |
G |
10: 79,782,365 (GRCm39) |
D252G |
possibly damaging |
Het |
Aspg |
G |
T |
12: 112,091,322 (GRCm39) |
E501D |
probably damaging |
Het |
Bicral |
A |
G |
17: 47,136,049 (GRCm39) |
I387T |
probably damaging |
Het |
Bub1 |
T |
C |
2: 127,652,645 (GRCm39) |
N574S |
probably benign |
Het |
Casr |
G |
A |
16: 36,315,778 (GRCm39) |
T764M |
probably damaging |
Het |
Ccdc60 |
A |
G |
5: 116,295,639 (GRCm39) |
S259P |
probably damaging |
Het |
Ccne2 |
A |
T |
4: 11,197,241 (GRCm39) |
N181I |
probably benign |
Het |
Chd4 |
A |
G |
6: 125,091,260 (GRCm39) |
D89G |
probably benign |
Het |
Col25a1 |
C |
T |
3: 130,378,364 (GRCm39) |
P606S |
probably damaging |
Het |
Dcc |
A |
G |
18: 71,680,491 (GRCm39) |
S582P |
possibly damaging |
Het |
Dlg4 |
A |
G |
11: 69,933,430 (GRCm39) |
D619G |
probably damaging |
Het |
Elavl2 |
C |
T |
4: 91,152,331 (GRCm39) |
V129I |
probably benign |
Het |
Epha3 |
A |
G |
16: 63,366,552 (GRCm39) |
I965T |
probably benign |
Het |
Fbxw16 |
G |
A |
9: 109,265,739 (GRCm39) |
S360L |
probably damaging |
Het |
Fgf14 |
T |
C |
14: 124,221,330 (GRCm39) |
Y158C |
probably damaging |
Het |
Gm44511 |
A |
G |
6: 128,803,163 (GRCm39) |
I16T |
possibly damaging |
Het |
Has2 |
C |
A |
15: 56,531,183 (GRCm39) |
V511F |
probably benign |
Het |
Heatr5b |
G |
A |
17: 79,109,185 (GRCm39) |
R1025C |
probably damaging |
Het |
Hsd17b12 |
T |
C |
2: 93,864,408 (GRCm39) |
Y233C |
probably benign |
Het |
Il36rn |
A |
T |
2: 24,170,831 (GRCm39) |
I43F |
probably damaging |
Het |
Inpp5b |
T |
A |
4: 124,678,988 (GRCm39) |
I465N |
probably damaging |
Het |
Irak2 |
T |
A |
6: 113,663,904 (GRCm39) |
N423K |
probably damaging |
Het |
Itga2 |
C |
A |
13: 115,007,141 (GRCm39) |
V396L |
probably benign |
Het |
Itprid1 |
A |
G |
6: 55,874,685 (GRCm39) |
T212A |
possibly damaging |
Het |
Lipo2 |
A |
T |
19: 33,725,969 (GRCm39) |
N94K |
probably damaging |
Het |
Lrrc37a |
T |
C |
11: 103,390,869 (GRCm39) |
T1519A |
possibly damaging |
Het |
Macf1 |
A |
G |
4: 123,353,005 (GRCm39) |
V1558A |
probably benign |
Het |
Mocos |
C |
A |
18: 24,797,114 (GRCm39) |
H91Q |
probably benign |
Het |
Myh14 |
G |
A |
7: 44,310,487 (GRCm39) |
T132I |
probably damaging |
Het |
Nlrp2 |
A |
T |
7: 5,322,237 (GRCm39) |
D803E |
possibly damaging |
Het |
Ntsr2 |
T |
A |
12: 16,704,018 (GRCm39) |
I173N |
probably damaging |
Het |
Or14c43 |
A |
G |
7: 86,115,573 (GRCm39) |
Y318C |
possibly damaging |
Het |
Or5b105 |
T |
G |
19: 13,079,857 (GRCm39) |
K270N |
probably damaging |
Het |
Pitx3 |
T |
C |
19: 46,125,486 (GRCm39) |
Y86C |
probably damaging |
Het |
Pkp1 |
T |
C |
1: 135,807,709 (GRCm39) |
S520G |
probably benign |
Het |
Pygo1 |
C |
T |
9: 72,852,529 (GRCm39) |
Q239* |
probably null |
Het |
Rab13 |
A |
G |
3: 90,130,851 (GRCm39) |
E68G |
probably damaging |
Het |
Slc5a1 |
T |
C |
5: 33,261,937 (GRCm39) |
|
probably null |
Het |
Slco1c1 |
A |
G |
6: 141,508,893 (GRCm39) |
T518A |
probably benign |
Het |
Spint1 |
A |
G |
2: 119,068,661 (GRCm39) |
I132V |
probably benign |
Het |
Stard9 |
T |
A |
2: 120,544,601 (GRCm39) |
I4514N |
probably benign |
Het |
Tenm3 |
T |
G |
8: 48,848,579 (GRCm39) |
S87R |
probably damaging |
Het |
Thap4 |
G |
T |
1: 93,678,381 (GRCm39) |
P135Q |
probably damaging |
Het |
Tmed9 |
A |
G |
13: 55,741,156 (GRCm39) |
E57G |
probably benign |
Het |
Tnrc18 |
C |
T |
5: 142,761,644 (GRCm39) |
V594I |
unknown |
Het |
Trmt1 |
A |
T |
8: 85,416,470 (GRCm39) |
K64* |
probably null |
Het |
Usf2 |
A |
G |
7: 30,654,606 (GRCm39) |
V198A |
probably damaging |
Het |
Usp14 |
A |
T |
18: 10,007,835 (GRCm39) |
C168S |
probably damaging |
Het |
Vav3 |
C |
A |
3: 109,470,130 (GRCm39) |
T525K |
probably damaging |
Het |
Vmn1r52 |
A |
G |
6: 90,156,151 (GRCm39) |
I152V |
probably benign |
Het |
Vmn2r81 |
A |
G |
10: 79,104,085 (GRCm39) |
D236G |
possibly damaging |
Het |
Wdr19 |
G |
A |
5: 65,401,509 (GRCm39) |
V975I |
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 |
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'- ATAGAGGATCAGCCCGTGAAC -3'
(R):5'- CAGTTCCGATTGCAATGGC -3'
Sequencing Primer
(F):5'- GCTCTTGTCACCAGTGAACCAG -3'
(R):5'- CAACTGATCTGAAGACTGTGCTTG -3'
|
Posted On |
2014-10-02 |