Incidental Mutation 'R5627:Rfx7'
ID |
441892 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Rfx7
|
Ensembl Gene |
ENSMUSG00000037674 |
Gene Name |
regulatory factor X, 7 |
Synonyms |
2510005N23Rik, D130086K05Rik, 9930116O05Rik, Rfxdc2 |
MMRRC Submission |
043166-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.904)
|
Stock # |
R5627 (G1)
|
Quality Score |
208 |
Status
|
Not validated
|
Chromosome |
9 |
Chromosomal Location |
72439522-72530219 bp(+) (GRCm39) |
Type of Mutation |
start gained |
DNA Base Change (assembly) |
C to T
at 72440066 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 |
noncoding transcript
Transcript: ENSMUST00000181405
|
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 |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000184851
|
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.8%
- 10x: 97.5%
- 20x: 95.8%
|
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: 45 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcb8 |
C |
T |
5: 24,605,137 (GRCm39) |
R108C |
possibly damaging |
Het |
Abl1 |
T |
C |
2: 31,690,595 (GRCm39) |
W705R |
probably benign |
Het |
Alpk1 |
A |
T |
3: 127,474,296 (GRCm39) |
V569D |
probably damaging |
Het |
Ano3 |
T |
C |
2: 110,587,298 (GRCm39) |
N425S |
possibly damaging |
Het |
Atad2b |
A |
G |
12: 4,967,911 (GRCm39) |
D68G |
probably benign |
Het |
Cacna1e |
A |
G |
1: 154,511,604 (GRCm39) |
I173T |
probably damaging |
Het |
Cenpe |
G |
T |
3: 134,941,234 (GRCm39) |
L716F |
possibly damaging |
Het |
Cep85 |
A |
T |
4: 133,861,408 (GRCm39) |
L622Q |
probably damaging |
Het |
Cep97 |
A |
G |
16: 55,745,330 (GRCm39) |
|
probably null |
Het |
Ces1f |
A |
T |
8: 94,006,327 (GRCm39) |
M1K |
probably null |
Het |
Chil5 |
A |
G |
3: 105,926,951 (GRCm39) |
L228P |
probably damaging |
Het |
Col22a1 |
T |
C |
15: 71,853,767 (GRCm39) |
E265G |
probably damaging |
Het |
Col3a1 |
T |
C |
1: 45,370,720 (GRCm39) |
|
probably benign |
Het |
Cyp3a59 |
T |
A |
5: 146,049,664 (GRCm39) |
D497E |
probably benign |
Het |
Egfem1 |
G |
T |
3: 29,722,548 (GRCm39) |
E175* |
probably null |
Het |
Eif4g2 |
A |
G |
7: 110,673,446 (GRCm39) |
Y778H |
probably benign |
Het |
Fam98b |
T |
C |
2: 117,098,414 (GRCm39) |
C295R |
probably damaging |
Het |
Gm3149 |
A |
T |
14: 15,702,790 (GRCm39) |
I246L |
probably benign |
Het |
Gm5134 |
A |
G |
10: 75,821,942 (GRCm39) |
T259A |
possibly damaging |
Het |
Gm5150 |
A |
G |
3: 16,017,564 (GRCm39) |
Y236H |
probably damaging |
Het |
Golga2 |
C |
A |
2: 32,196,059 (GRCm39) |
Y864* |
probably null |
Het |
Inpp4a |
A |
G |
1: 37,406,854 (GRCm39) |
D199G |
probably damaging |
Het |
Inpp4b |
T |
C |
8: 82,470,445 (GRCm39) |
|
probably benign |
Het |
Kremen1 |
T |
C |
11: 5,149,709 (GRCm39) |
T321A |
probably benign |
Het |
Map3k3 |
A |
G |
11: 106,039,428 (GRCm39) |
S250G |
probably benign |
Het |
Mtmr10 |
A |
T |
7: 63,986,500 (GRCm39) |
K526M |
probably damaging |
Het |
Nbea |
C |
T |
3: 55,899,766 (GRCm39) |
C1461Y |
probably damaging |
Het |
Nckap5l |
A |
T |
15: 99,325,587 (GRCm39) |
N305K |
possibly damaging |
Het |
Nup210l |
A |
T |
3: 90,051,557 (GRCm39) |
Y567F |
probably damaging |
Het |
Or11g26 |
A |
G |
14: 50,753,257 (GRCm39) |
M199V |
probably benign |
Het |
Or14c39 |
G |
T |
7: 86,344,347 (GRCm39) |
V228F |
possibly damaging |
Het |
Or4a70 |
A |
T |
2: 89,324,388 (GRCm39) |
N89K |
probably benign |
Het |
Or56b2 |
G |
A |
7: 104,337,377 (GRCm39) |
V52M |
probably benign |
Het |
Or5b96 |
T |
A |
19: 12,867,663 (GRCm39) |
I93F |
probably damaging |
Het |
Or5g25 |
T |
A |
2: 85,477,991 (GRCm39) |
I225F |
probably damaging |
Het |
Rcc1 |
T |
C |
4: 132,065,454 (GRCm39) |
R57G |
probably damaging |
Het |
Saraf |
T |
A |
8: 34,621,799 (GRCm39) |
M1K |
probably null |
Het |
Serpinb9d |
C |
T |
13: 33,386,676 (GRCm39) |
T248I |
probably damaging |
Het |
Slc38a6 |
A |
G |
12: 73,390,457 (GRCm39) |
I254M |
possibly damaging |
Het |
Slc6a5 |
A |
G |
7: 49,561,522 (GRCm39) |
D18G |
possibly damaging |
Het |
Supt20 |
A |
G |
3: 54,620,611 (GRCm39) |
D389G |
possibly damaging |
Het |
Tecpr2 |
T |
A |
12: 110,907,916 (GRCm39) |
I1001K |
probably damaging |
Het |
Vcan |
CAAAA |
CAA |
13: 89,839,254 (GRCm39) |
|
probably null |
Het |
Wdr36 |
T |
A |
18: 32,994,691 (GRCm39) |
D717E |
possibly damaging |
Het |
Zfp318 |
T |
C |
17: 46,724,062 (GRCm39) |
S2022P |
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 |
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 |
|
Posted On |
2016-11-08 |