Incidental Mutation 'R4844:Rfx7'
| ID |
372056 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rfx7
|
| Ensembl Gene |
ENSMUSG00000037674 |
| Gene Name |
regulatory factor X, 7 |
| Synonyms |
2510005N23Rik, D130086K05Rik, 9930116O05Rik, Rfxdc2 |
| MMRRC Submission |
042457-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.901)
|
| Stock # |
R4844 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
72439522-72530219 bp(+) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
C to T
at 72500524 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Stop codon
at position 95
(Q95*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000138957
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000093820]
[ENSMUST00000163401]
[ENSMUST00000183372]
[ENSMUST00000184015]
|
| AlphaFold |
F8VPJ6 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000093820
AA Change: Q95*
|
| SMART Domains |
Protein: ENSMUSP00000091338
Gene: ENSMUSG00000037674
AA Change: Q95*
| 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 null
Transcript: ENSMUST00000163401
AA Change: Q95*
|
| SMART Domains |
Protein: ENSMUSP00000127192
Gene: ENSMUSG00000037674
AA Change: Q95*
| 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 null
Transcript: ENSMUST00000183372
AA Change: Q95*
|
| SMART Domains |
Protein: ENSMUSP00000139195
Gene: ENSMUSG00000037674
AA Change: Q95*
| 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 null
Transcript: ENSMUST00000184015
AA Change: Q95*
|
| SMART Domains |
Protein: ENSMUSP00000138957
Gene: ENSMUSG00000037674
AA Change: Q95*
| 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
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000192251
|
| Meta Mutation Damage Score |
0.9755 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.7%
- 20x: 93.6%
|
| Validation Efficiency |
97% (68/70) |
| 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: 58 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc9 |
T |
C |
6: 142,634,824 (GRCm39) |
T147A |
probably benign |
Het |
| Acvrl1 |
T |
C |
15: 101,033,409 (GRCm39) |
S99P |
probably damaging |
Het |
| Adamts3 |
T |
A |
5: 89,825,675 (GRCm39) |
S1055C |
probably damaging |
Het |
| Aftph |
T |
C |
11: 20,658,667 (GRCm39) |
|
probably benign |
Het |
| Aldh1a1 |
A |
G |
19: 20,611,764 (GRCm39) |
K363E |
probably benign |
Het |
| Astn2 |
A |
G |
4: 65,562,967 (GRCm39) |
V886A |
possibly damaging |
Het |
| Atad5 |
G |
A |
11: 80,005,137 (GRCm39) |
|
probably null |
Het |
| C9orf72 |
A |
G |
4: 35,213,565 (GRCm39) |
V31A |
possibly damaging |
Het |
| Ccnf |
G |
T |
17: 24,449,331 (GRCm39) |
Y482* |
probably null |
Het |
| Cfap97 |
A |
G |
8: 46,622,712 (GRCm39) |
D34G |
possibly damaging |
Het |
| Chst11 |
G |
T |
10: 83,026,923 (GRCm39) |
E117* |
probably null |
Het |
| Cobl |
A |
T |
11: 12,204,740 (GRCm39) |
L572Q |
probably benign |
Het |
| Coch |
G |
A |
12: 51,649,477 (GRCm39) |
G263S |
probably damaging |
Het |
| Coq4 |
T |
C |
2: 29,686,026 (GRCm39) |
I205T |
possibly damaging |
Het |
| Cyp3a13 |
A |
T |
5: 137,915,813 (GRCm39) |
I62K |
probably benign |
Het |
| Cyp7a1 |
A |
G |
4: 6,273,655 (GRCm39) |
S84P |
probably damaging |
Het |
| Dennd10 |
GTCT |
GT |
19: 60,823,435 (GRCm39) |
|
probably null |
Het |
| G6pc3 |
G |
A |
11: 102,084,057 (GRCm39) |
|
probably null |
Het |
| Gm10576 |
T |
C |
4: 100,911,707 (GRCm39) |
|
noncoding transcript |
Het |
| Gm17511 |
G |
A |
7: 126,885,454 (GRCm39) |
|
noncoding transcript |
Het |
| Gnat2 |
T |
C |
3: 108,002,831 (GRCm39) |
S80P |
probably damaging |
Het |
| Gpaa1 |
C |
T |
15: 76,216,508 (GRCm39) |
|
probably benign |
Het |
| Gpr107 |
T |
A |
2: 31,078,686 (GRCm39) |
|
probably null |
Het |
| Hormad1 |
T |
C |
3: 95,478,242 (GRCm39) |
Y103H |
probably damaging |
Het |
| Ighv14-1 |
T |
G |
12: 113,895,622 (GRCm39) |
Q101P |
probably damaging |
Het |
| Igsf9 |
A |
G |
1: 172,324,737 (GRCm39) |
D885G |
probably benign |
Het |
| Il15ra |
G |
A |
2: 11,723,082 (GRCm39) |
|
probably benign |
Het |
| Islr2 |
C |
T |
9: 58,115,517 (GRCm39) |
|
probably benign |
Het |
| Jak3 |
A |
T |
8: 72,134,299 (GRCm39) |
N467I |
possibly damaging |
Het |
| Jarid2 |
T |
C |
13: 45,067,248 (GRCm39) |
V1023A |
probably damaging |
Het |
| Kcnn2 |
A |
T |
18: 45,816,187 (GRCm39) |
T333S |
possibly damaging |
Het |
| Klk14 |
G |
A |
7: 43,341,501 (GRCm39) |
C51Y |
probably damaging |
Het |
| Kmt2c |
T |
C |
5: 25,520,111 (GRCm39) |
T2000A |
probably benign |
Het |
| Lpxn |
A |
G |
19: 12,810,536 (GRCm39) |
T327A |
probably damaging |
Het |
| Mxra8 |
A |
G |
4: 155,927,151 (GRCm39) |
T362A |
probably benign |
Het |
| Myh6 |
A |
G |
14: 55,184,651 (GRCm39) |
I1560T |
possibly damaging |
Het |
| Ndufv1 |
A |
G |
19: 4,062,574 (GRCm39) |
S17P |
probably benign |
Het |
| Nwd1 |
A |
T |
8: 73,393,742 (GRCm39) |
H335L |
probably damaging |
Het |
| Or1a1 |
A |
G |
11: 74,086,902 (GRCm39) |
D191G |
probably damaging |
Het |
| Or2f1b |
T |
A |
6: 42,739,394 (GRCm39) |
M136K |
probably damaging |
Het |
| Otop2 |
G |
A |
11: 115,214,201 (GRCm39) |
|
probably null |
Het |
| Pwwp2b |
C |
A |
7: 138,835,502 (GRCm39) |
S314R |
probably benign |
Het |
| Serpine2 |
A |
T |
1: 79,777,241 (GRCm39) |
L192* |
probably null |
Het |
| Smpdl3b |
T |
C |
4: 132,465,369 (GRCm39) |
I322M |
probably damaging |
Het |
| Spata31d1b |
C |
T |
13: 59,866,169 (GRCm39) |
R1106C |
possibly damaging |
Het |
| Sprr2k |
T |
G |
3: 92,336,732 (GRCm39) |
|
probably null |
Het |
| St8sia1 |
T |
A |
6: 142,774,996 (GRCm39) |
R194S |
possibly damaging |
Het |
| Sv2a |
T |
A |
3: 96,095,695 (GRCm39) |
V337D |
probably damaging |
Het |
| Tars1 |
G |
A |
15: 11,385,281 (GRCm39) |
R637W |
possibly damaging |
Het |
| Tcp11l2 |
G |
T |
10: 84,449,555 (GRCm39) |
V507L |
probably benign |
Het |
| Tpr |
T |
C |
1: 150,321,630 (GRCm39) |
Y2262H |
possibly damaging |
Het |
| Vars1 |
A |
G |
17: 35,230,588 (GRCm39) |
E529G |
probably damaging |
Het |
| Vash2 |
C |
T |
1: 190,710,691 (GRCm39) |
|
probably benign |
Het |
| Vmn1r194 |
T |
C |
13: 22,429,223 (GRCm39) |
V280A |
probably benign |
Het |
| Vti1a |
A |
G |
19: 55,380,297 (GRCm39) |
T142A |
probably damaging |
Het |
| Zfp111 |
C |
T |
7: 23,898,801 (GRCm39) |
C270Y |
probably damaging |
Het |
| Zfp518a |
T |
A |
19: 40,903,340 (GRCm39) |
Y1090N |
probably damaging |
Het |
| Zfp616 |
A |
T |
11: 73,975,225 (GRCm39) |
Y498F |
probably benign |
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 |
|
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'- TCCAAGCCAGCAGTTTAGCC -3'
(R):5'- TCAGAAGCCTGGACAAAGCC -3'
Sequencing Primer
(F):5'- CCAAACAGGCCAGTATTTTCAGTCTG -3'
(R):5'- TTCTAGCACAGAAGCTTAGAGC -3'
|
| Posted On |
2016-03-01 |
Incidental Mutation