Incidental Mutation 'R8726:Rfx7'
ID |
686576 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Rfx7
|
Ensembl Gene |
ENSMUSG00000037674 |
Gene Name |
regulatory factor X, 7 |
Synonyms |
2510005N23Rik, D130086K05Rik, 9930116O05Rik, Rfxdc2 |
MMRRC Submission |
068616-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.904)
|
Stock # |
R8726 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
9 |
Chromosomal Location |
72439522-72530219 bp(+) (GRCm39) |
Type of Mutation |
splice site |
DNA Base Change (assembly) |
T to A
at 72500505 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000138957
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000093820]
[ENSMUST00000163401]
[ENSMUST00000183372]
[ENSMUST00000184015]
|
AlphaFold |
F8VPJ6 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000093820
|
SMART Domains |
Protein: ENSMUSP00000091338 Gene: ENSMUSG00000037674
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
|
SMART Domains |
Protein: ENSMUSP00000127192 Gene: ENSMUSG00000037674
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 |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.6%
|
Validation Efficiency |
100% (76/76) |
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: 79 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2810408A11Rik |
A |
G |
11: 69,789,207 (GRCm39) |
S331P |
possibly damaging |
Het |
4930433I11Rik |
A |
G |
7: 40,644,226 (GRCm39) |
M632V |
probably benign |
Het |
9930111J21Rik2 |
A |
C |
11: 48,910,507 (GRCm39) |
V642G |
probably damaging |
Het |
Abcd4 |
A |
T |
12: 84,651,171 (GRCm39) |
|
probably benign |
Het |
Acsbg1 |
T |
C |
9: 54,525,462 (GRCm39) |
E363G |
probably damaging |
Het |
Ank3 |
T |
A |
10: 69,823,084 (GRCm39) |
H584Q |
|
Het |
Ankrd11 |
A |
T |
8: 123,620,765 (GRCm39) |
L1029Q |
possibly damaging |
Het |
Anpep |
C |
T |
7: 79,490,641 (GRCm39) |
V292I |
probably benign |
Het |
Atmin |
G |
A |
8: 117,681,525 (GRCm39) |
D175N |
possibly damaging |
Het |
B4galt6 |
T |
C |
18: 20,821,450 (GRCm39) |
I359M |
possibly damaging |
Het |
Bicd2 |
A |
G |
13: 49,532,905 (GRCm39) |
D497G |
probably damaging |
Het |
Calcr |
C |
T |
6: 3,707,489 (GRCm39) |
|
probably benign |
Het |
Camkk2 |
G |
T |
5: 122,882,002 (GRCm39) |
D418E |
probably benign |
Het |
Cntn3 |
A |
T |
6: 102,146,014 (GRCm39) |
Y942* |
probably null |
Het |
Col8a1 |
C |
T |
16: 57,449,138 (GRCm39) |
R124H |
probably damaging |
Het |
Coro7 |
T |
C |
16: 4,486,619 (GRCm39) |
T185A |
possibly damaging |
Het |
Creb3 |
C |
T |
4: 43,566,747 (GRCm39) |
P364S |
probably benign |
Het |
Csf1r |
A |
T |
18: 61,250,728 (GRCm39) |
T480S |
probably benign |
Het |
Csnk1g1 |
T |
A |
9: 65,909,553 (GRCm39) |
H223Q |
probably damaging |
Het |
Ctns |
C |
T |
11: 73,078,613 (GRCm39) |
V171M |
probably benign |
Het |
Dhx15 |
A |
T |
5: 52,311,568 (GRCm39) |
N637K |
probably benign |
Het |
Eif4g1 |
T |
C |
16: 20,494,232 (GRCm39) |
Y103H |
probably damaging |
Het |
Eif4g2 |
C |
T |
7: 110,676,629 (GRCm39) |
R295H |
probably damaging |
Het |
Fat1 |
C |
T |
8: 45,477,206 (GRCm39) |
P2084L |
probably benign |
Het |
Fat4 |
A |
G |
3: 39,064,647 (GRCm39) |
R4868G |
probably damaging |
Het |
Fbxo31 |
A |
T |
8: 122,282,014 (GRCm39) |
Y295* |
probably null |
Het |
Fmn2 |
C |
A |
1: 174,437,404 (GRCm39) |
T1125N |
possibly damaging |
Het |
Foxi2 |
C |
A |
7: 135,012,133 (GRCm39) |
P7Q |
probably damaging |
Het |
Hmx1 |
C |
T |
5: 35,549,100 (GRCm39) |
P131L |
probably damaging |
Het |
Hrh2 |
T |
C |
13: 54,368,171 (GRCm39) |
L49P |
probably damaging |
Het |
Hycc2 |
T |
C |
1: 58,585,285 (GRCm39) |
T171A |
possibly damaging |
Het |
Igkv6-14 |
A |
G |
6: 70,412,125 (GRCm39) |
V53A |
possibly damaging |
Het |
Kcnb2 |
C |
A |
1: 15,780,876 (GRCm39) |
Q583K |
probably benign |
Het |
Kcns3 |
A |
G |
12: 11,141,692 (GRCm39) |
S336P |
probably damaging |
Het |
Kremen2 |
G |
T |
17: 23,961,720 (GRCm39) |
F262L |
probably damaging |
Het |
Krtap9-1 |
T |
A |
11: 99,764,577 (GRCm39) |
C104* |
probably null |
Het |
Ky |
A |
G |
9: 102,405,102 (GRCm39) |
Y199C |
probably damaging |
Het |
L1td1 |
T |
G |
4: 98,622,215 (GRCm39) |
L259R |
probably damaging |
Het |
Lrba |
A |
G |
3: 86,261,062 (GRCm39) |
T1473A |
probably benign |
Het |
Lrp6 |
A |
T |
6: 134,484,624 (GRCm39) |
L333* |
probably null |
Het |
Lrrc23 |
T |
C |
6: 124,753,043 (GRCm39) |
N201S |
probably benign |
Het |
Map4k4 |
C |
A |
1: 40,043,142 (GRCm39) |
P666T |
possibly damaging |
Het |
Matn1 |
T |
A |
4: 130,679,514 (GRCm39) |
D389E |
probably damaging |
Het |
Mdc1 |
G |
T |
17: 36,158,475 (GRCm39) |
G285V |
probably benign |
Het |
Mettl17 |
T |
C |
14: 52,128,187 (GRCm39) |
|
probably null |
Het |
Mknk1 |
A |
T |
4: 115,730,506 (GRCm39) |
|
probably benign |
Het |
Neurod1 |
A |
T |
2: 79,284,430 (GRCm39) |
F318I |
possibly damaging |
Het |
Nfya |
T |
C |
17: 48,699,445 (GRCm39) |
T213A |
probably damaging |
Het |
Nmrk1 |
C |
T |
19: 18,616,902 (GRCm39) |
T17M |
probably damaging |
Het |
Ntrk1 |
A |
C |
3: 87,693,396 (GRCm39) |
D245E |
probably benign |
Het |
Nup160 |
C |
A |
2: 90,563,545 (GRCm39) |
H1370Q |
possibly damaging |
Het |
Or11h6 |
A |
C |
14: 50,880,703 (GRCm39) |
K316Q |
probably benign |
Het |
Or5w8 |
T |
C |
2: 87,688,161 (GRCm39) |
V214A |
probably benign |
Het |
Or6x1 |
T |
A |
9: 40,098,663 (GRCm39) |
V84E |
probably damaging |
Het |
Parp4 |
G |
A |
14: 56,866,556 (GRCm39) |
R1040H |
probably benign |
Het |
Pdia4 |
C |
A |
6: 47,785,200 (GRCm39) |
E56* |
probably null |
Het |
Pdia5 |
A |
G |
16: 35,269,784 (GRCm39) |
F175S |
probably damaging |
Het |
Piezo2 |
C |
T |
18: 63,242,956 (GRCm39) |
S621N |
probably benign |
Het |
Pigw |
T |
C |
11: 84,768,643 (GRCm39) |
T229A |
possibly damaging |
Het |
Rasa3 |
T |
C |
8: 13,626,381 (GRCm39) |
Y734C |
probably benign |
Het |
Rims1 |
T |
C |
1: 22,633,181 (GRCm39) |
D178G |
possibly damaging |
Het |
Ros1 |
A |
G |
10: 51,954,769 (GRCm39) |
V1853A |
possibly damaging |
Het |
Rps7 |
A |
G |
12: 28,681,714 (GRCm39) |
I139T |
probably benign |
Het |
Sall3 |
T |
C |
18: 81,029,708 (GRCm39) |
D15G |
possibly damaging |
Het |
Scn1a |
A |
T |
2: 66,133,983 (GRCm39) |
V137D |
probably benign |
Het |
Slc23a3 |
G |
A |
1: 75,106,173 (GRCm39) |
P349S |
probably benign |
Het |
Slc35a5 |
C |
G |
16: 44,964,021 (GRCm39) |
R404P |
probably damaging |
Het |
Stard13 |
A |
T |
5: 150,986,607 (GRCm39) |
M301K |
probably benign |
Het |
Suclg2 |
A |
G |
6: 95,632,489 (GRCm39) |
F60S |
probably damaging |
Het |
Tecpr2 |
T |
A |
12: 110,904,668 (GRCm39) |
F887L |
possibly damaging |
Het |
Tekt4 |
G |
T |
17: 25,691,033 (GRCm39) |
W113L |
probably damaging |
Het |
Tep1 |
G |
A |
14: 51,085,080 (GRCm39) |
S901F |
probably damaging |
Het |
Tex11 |
C |
T |
X: 100,059,191 (GRCm39) |
V190I |
possibly damaging |
Het |
Thbs1 |
T |
A |
2: 117,949,957 (GRCm39) |
|
probably null |
Het |
Tm9sf4 |
T |
A |
2: 153,040,295 (GRCm39) |
V425D |
probably damaging |
Het |
Tpo |
A |
G |
12: 30,105,137 (GRCm39) |
L911P |
possibly damaging |
Het |
Ttn |
T |
C |
2: 76,729,301 (GRCm39) |
Q5332R |
unknown |
Het |
Wdr59 |
A |
T |
8: 112,223,466 (GRCm39) |
D169E |
|
Het |
Zfp799 |
C |
A |
17: 33,039,166 (GRCm39) |
G367C |
probably 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 |
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'- TCCAAGCCAGCAGTTTAGCC -3'
(R):5'- CTGTTCTAACACAGTACTTATCTGC -3'
Sequencing Primer
(F):5'- CCAAACAGGCCAGTATTTTCAGTCTG -3'
(R):5'- ATCTGCTTTAGTCTATCACATGGTAC -3'
|
Posted On |
2021-11-17 |