Incidental Mutation 'R8788:Rfx7'
| ID |
670766 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rfx7
|
| Ensembl Gene |
ENSMUSG00000037674 |
| Gene Name |
regulatory factor X, 7 |
| Synonyms |
2510005N23Rik, D130086K05Rik, 9930116O05Rik, Rfxdc2 |
| MMRRC Submission |
068607-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.901)
|
| Stock # |
R8788 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
72439522-72530219 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 72524795 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 662
(S662P)
|
| 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: S662P
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000091338
Gene: ENSMUSG00000037674
AA Change: S662P
| 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: S662P
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000127192
Gene: ENSMUSG00000037674
AA Change: S662P
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
| Validation Efficiency |
100% (53/53) |
| 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: 56 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ank3 |
A |
T |
10: 69,718,256 (GRCm39) |
L502F |
unknown |
Het |
| Btbd8 |
A |
G |
5: 107,618,853 (GRCm39) |
*252W |
probably null |
Het |
| Btnl9 |
T |
A |
11: 49,066,614 (GRCm39) |
M336L |
probably benign |
Het |
| Cd72 |
T |
C |
4: 43,450,185 (GRCm39) |
E241G |
probably benign |
Het |
| Cdh23 |
T |
A |
10: 60,324,372 (GRCm39) |
N296I |
probably damaging |
Het |
| Celf6 |
C |
A |
9: 59,485,750 (GRCm39) |
S30R |
possibly damaging |
Het |
| Crxos |
T |
C |
7: 15,632,499 (GRCm39) |
Y102H |
probably benign |
Het |
| Csmd3 |
A |
T |
15: 47,470,513 (GRCm39) |
S2477T |
|
Het |
| Evi2a |
T |
A |
11: 79,418,531 (GRCm39) |
R26S |
probably benign |
Het |
| Ezr |
T |
C |
17: 7,021,392 (GRCm39) |
M182V |
probably benign |
Het |
| Fat2 |
G |
T |
11: 55,171,929 (GRCm39) |
A2928D |
possibly damaging |
Het |
| Fetub |
A |
T |
16: 22,758,182 (GRCm39) |
K322* |
probably null |
Het |
| Fscb |
T |
C |
12: 64,518,395 (GRCm39) |
T1024A |
unknown |
Het |
| Gdpd1 |
A |
G |
11: 86,950,318 (GRCm39) |
V85A |
probably damaging |
Het |
| Gm38119 |
G |
T |
3: 92,645,537 (GRCm39) |
P19H |
unknown |
Het |
| Gpr182 |
T |
C |
10: 127,586,529 (GRCm39) |
T141A |
probably benign |
Het |
| Inpp5d |
G |
A |
1: 87,611,484 (GRCm39) |
G312D |
probably damaging |
Het |
| Kif26b |
G |
A |
1: 178,357,090 (GRCm39) |
|
probably benign |
Het |
| Krtap5-1 |
ACAGGGCTTGCAGCAGCTGGACTGACAGCAGCAGGGCTTGCAGCAGCTGGACTGACAGCAGCAGGGCTTGCAGCAGCTGGACTGACAGCAG |
ACAGGGCTTGCAGCAGCTGGACTGACAGCAGCAGGGCTTGCAGCAGCTGGACTGACAGCAG |
7: 141,850,333 (GRCm39) |
|
probably benign |
Het |
| Lcor |
C |
T |
19: 41,573,698 (GRCm39) |
R818W |
probably damaging |
Het |
| Maf |
T |
A |
8: 116,432,612 (GRCm39) |
I331F |
probably damaging |
Het |
| Mark3 |
C |
A |
12: 111,613,124 (GRCm39) |
S529R |
probably benign |
Het |
| Mmp10 |
A |
G |
9: 7,502,687 (GRCm39) |
|
probably benign |
Het |
| Mrps30 |
T |
C |
13: 118,523,538 (GRCm39) |
E78G |
possibly damaging |
Het |
| Naip5 |
T |
A |
13: 100,356,338 (GRCm39) |
E1092D |
probably benign |
Het |
| Nhsl3 |
A |
G |
4: 129,119,743 (GRCm39) |
V97A |
probably benign |
Het |
| Or4c116 |
T |
C |
2: 88,942,626 (GRCm39) |
T77A |
probably benign |
Het |
| Pcdh12 |
G |
A |
18: 38,416,109 (GRCm39) |
L339F |
probably benign |
Het |
| Pdgfd |
A |
G |
9: 6,377,000 (GRCm39) |
S365G |
probably benign |
Het |
| Piezo1 |
T |
C |
8: 123,228,533 (GRCm39) |
M281V |
|
Het |
| Prkg2 |
C |
T |
5: 99,117,839 (GRCm39) |
E501K |
probably damaging |
Het |
| Recql5 |
T |
C |
11: 115,786,628 (GRCm39) |
I563V |
probably benign |
Het |
| Ric8a |
A |
G |
7: 140,438,806 (GRCm39) |
T252A |
probably benign |
Het |
| Sbf1 |
C |
T |
15: 89,186,062 (GRCm39) |
R984H |
probably damaging |
Het |
| Sel1l3 |
G |
T |
5: 53,332,148 (GRCm39) |
Y412* |
probably null |
Het |
| Slc17a6 |
G |
A |
7: 51,298,908 (GRCm39) |
A224T |
probably damaging |
Het |
| Slco1a8 |
A |
T |
6: 141,933,570 (GRCm39) |
V425D |
probably benign |
Het |
| Smarca4 |
T |
C |
9: 21,550,024 (GRCm39) |
I378T |
probably damaging |
Het |
| Tatdn1 |
T |
C |
15: 58,762,543 (GRCm39) |
*265W |
probably null |
Het |
| Tcaf2 |
A |
G |
6: 42,606,472 (GRCm39) |
L494P |
probably damaging |
Het |
| Tcl1b2 |
T |
C |
12: 105,113,380 (GRCm39) |
L11P |
probably benign |
Het |
| Thrb |
A |
G |
14: 18,002,558 (GRCm38) |
E119G |
probably damaging |
Het |
| Tll2 |
T |
C |
19: 41,109,814 (GRCm39) |
T317A |
probably benign |
Het |
| Tob2 |
AGATGATGA |
AGATGA |
15: 81,735,928 (GRCm39) |
|
probably benign |
Het |
| Upk1b |
A |
G |
16: 38,607,463 (GRCm39) |
L88P |
probably damaging |
Het |
| Uri1 |
T |
C |
7: 37,661,003 (GRCm39) |
I30V |
|
Het |
| Ush2a |
A |
T |
1: 188,475,816 (GRCm39) |
R2918* |
probably null |
Het |
| Vax1 |
T |
C |
19: 59,158,247 (GRCm39) |
D72G |
unknown |
Het |
| Vmn2r38 |
C |
A |
7: 9,078,482 (GRCm39) |
M633I |
probably benign |
Het |
| Vmn2r95 |
A |
G |
17: 18,671,790 (GRCm39) |
D581G |
probably benign |
Het |
| Vps13d |
A |
G |
4: 144,813,305 (GRCm39) |
F3324L |
|
Het |
| Xrcc6 |
C |
T |
15: 81,911,583 (GRCm39) |
L309F |
probably damaging |
Het |
| Xrra1 |
A |
G |
7: 99,555,761 (GRCm39) |
Y376C |
probably benign |
Het |
| Zfp329 |
T |
C |
7: 12,544,490 (GRCm39) |
T345A |
possibly damaging |
Het |
| Zfp574 |
T |
A |
7: 24,779,816 (GRCm39) |
N279K |
unknown |
Het |
| Zfp804b |
T |
C |
5: 6,822,635 (GRCm39) |
M143V |
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 |
|
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 |
|
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'- CTGTGACCAGAGGACCAAATG -3'
(R):5'- TCCTCTATTATCTGTGAACTGACAC -3'
Sequencing Primer
(F):5'- TGACCAGAGGACCAAATGTAAAAATC -3'
(R):5'- GTGAACTGACACTGATTGACACCTTG -3'
|
| Posted On |
2021-04-30 |
Incidental Mutation