Incidental Mutation 'R1802:Rfx7'
| ID |
203217 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rfx7
|
| Ensembl Gene |
ENSMUSG00000037674 |
| Gene Name |
regulatory factor X, 7 |
| Synonyms |
2510005N23Rik, D130086K05Rik, 9930116O05Rik, Rfxdc2 |
| MMRRC Submission |
039832-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.904)
|
| Stock # |
R1802 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
72439522-72530219 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 72526919 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Threonine
at position 1370
(S1370T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000127192
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000093820]
[ENSMUST00000163401]
|
| AlphaFold |
F8VPJ6 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000093820
AA Change: S1370T
PolyPhen 2
Score 0.495 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000091338
Gene: ENSMUSG00000037674
AA Change: S1370T
| 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 |
possibly damaging
Transcript: ENSMUST00000163401
AA Change: S1370T
PolyPhen 2
Score 0.495 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000127192
Gene: ENSMUSG00000037674
AA Change: S1370T
| 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: 97.5%
- 3x: 96.9%
- 10x: 95.3%
- 20x: 92.3%
|
| 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: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcd2 |
G |
T |
15: 91,047,305 (GRCm39) |
R583S |
probably benign |
Het |
| Ago2 |
A |
T |
15: 72,993,029 (GRCm39) |
F492Y |
probably damaging |
Het |
| Ano4 |
T |
A |
10: 88,816,878 (GRCm39) |
D610V |
probably damaging |
Het |
| Atp6v0d2 |
A |
G |
4: 19,922,366 (GRCm39) |
|
probably null |
Het |
| Atxn7 |
T |
G |
14: 14,089,419 (GRCm38) |
S312A |
probably benign |
Het |
| Azgp1 |
A |
G |
5: 137,983,493 (GRCm39) |
Y56C |
probably damaging |
Het |
| Bcan |
A |
G |
3: 87,900,415 (GRCm39) |
V606A |
possibly damaging |
Het |
| Btnl9 |
T |
A |
11: 49,066,617 (GRCm39) |
I335F |
probably benign |
Het |
| Ccdc63 |
T |
C |
5: 122,267,940 (GRCm39) |
R9G |
probably damaging |
Het |
| Cdyl |
T |
A |
13: 36,056,619 (GRCm39) |
L534* |
probably null |
Het |
| Celf2 |
T |
C |
2: 6,554,744 (GRCm39) |
E445G |
probably damaging |
Het |
| Cfap97d1 |
T |
A |
11: 101,879,302 (GRCm39) |
Y25N |
possibly damaging |
Het |
| Cimap3 |
T |
A |
3: 105,921,866 (GRCm39) |
Q19L |
possibly damaging |
Het |
| Cnot8 |
T |
C |
11: 58,008,361 (GRCm39) |
C276R |
probably benign |
Het |
| Dock4 |
A |
G |
12: 40,844,597 (GRCm39) |
I1135V |
possibly damaging |
Het |
| Edc3 |
A |
G |
9: 57,634,598 (GRCm39) |
D205G |
probably damaging |
Het |
| Emilin1 |
C |
T |
5: 31,075,082 (GRCm39) |
P441L |
possibly damaging |
Het |
| Fancl |
T |
G |
11: 26,409,709 (GRCm39) |
S188R |
probably benign |
Het |
| Fbn2 |
T |
A |
18: 58,186,048 (GRCm39) |
K1767* |
probably null |
Het |
| Glrb |
A |
T |
3: 80,769,264 (GRCm39) |
H154Q |
probably damaging |
Het |
| Gm19965 |
C |
T |
1: 116,748,633 (GRCm39) |
R105* |
probably null |
Het |
| Grhpr |
C |
A |
4: 44,988,950 (GRCm39) |
Y202* |
probably null |
Het |
| Herc2 |
A |
G |
7: 55,834,080 (GRCm39) |
E3095G |
probably damaging |
Het |
| Il22ra2 |
A |
T |
10: 19,502,447 (GRCm39) |
N89Y |
probably damaging |
Het |
| Itgb6 |
T |
C |
2: 60,483,625 (GRCm39) |
D261G |
probably benign |
Het |
| Jmjd7 |
C |
T |
2: 119,860,589 (GRCm39) |
L39F |
probably damaging |
Het |
| Kif1a |
T |
A |
1: 92,993,871 (GRCm39) |
I360F |
probably damaging |
Het |
| Kmt2d |
T |
C |
15: 98,760,866 (GRCm39) |
Q828R |
unknown |
Het |
| Marchf10 |
C |
A |
11: 105,280,741 (GRCm39) |
A515S |
probably benign |
Het |
| Mios |
T |
A |
6: 8,216,385 (GRCm39) |
Y436* |
probably null |
Het |
| Mprip |
C |
T |
11: 59,645,867 (GRCm39) |
L684F |
probably damaging |
Het |
| Mybpc2 |
T |
A |
7: 44,161,894 (GRCm39) |
N519Y |
possibly damaging |
Het |
| Naga |
C |
T |
15: 82,221,669 (GRCm39) |
R24Q |
probably benign |
Het |
| Nr2c1 |
G |
A |
10: 93,999,648 (GRCm39) |
V103M |
possibly damaging |
Het |
| Oca2 |
A |
G |
7: 55,904,728 (GRCm39) |
S65G |
possibly damaging |
Het |
| Or4k49 |
G |
T |
2: 111,495,099 (GRCm39) |
S176I |
probably damaging |
Het |
| Or52ab7 |
A |
G |
7: 102,977,854 (GRCm39) |
I54V |
probably benign |
Het |
| Phyhipl |
A |
T |
10: 70,434,855 (GRCm39) |
I28N |
probably benign |
Het |
| Pik3cb |
C |
A |
9: 98,983,342 (GRCm39) |
E89* |
probably null |
Het |
| Plekhm2 |
A |
T |
4: 141,361,658 (GRCm39) |
S262T |
probably benign |
Het |
| Ppm1a |
T |
A |
12: 72,840,481 (GRCm39) |
|
probably null |
Het |
| Relt |
T |
C |
7: 100,499,401 (GRCm39) |
I173V |
probably damaging |
Het |
| Rps7 |
G |
A |
12: 28,684,258 (GRCm39) |
R81C |
probably benign |
Het |
| Saa3 |
T |
C |
7: 46,361,550 (GRCm39) |
*123W |
probably null |
Het |
| Serpina3b |
C |
A |
12: 104,104,896 (GRCm39) |
H357Q |
probably damaging |
Het |
| Slc9c1 |
T |
A |
16: 45,378,644 (GRCm39) |
N493K |
probably benign |
Het |
| Spata31 |
T |
C |
13: 65,070,197 (GRCm39) |
Y782H |
probably benign |
Het |
| Tfap2a |
T |
C |
13: 40,878,646 (GRCm39) |
D166G |
probably damaging |
Het |
| Thada |
A |
T |
17: 84,771,835 (GRCm39) |
M9K |
probably benign |
Het |
| Tmem269 |
A |
T |
4: 119,068,070 (GRCm39) |
|
probably null |
Het |
| Tnxb |
C |
A |
17: 34,922,863 (GRCm39) |
P2482Q |
probably damaging |
Het |
| Vit |
T |
C |
17: 78,912,940 (GRCm39) |
V291A |
possibly damaging |
Het |
| Zfp930 |
G |
T |
8: 69,679,046 (GRCm39) |
A18S |
possibly damaging |
Het |
| Zup1 |
A |
T |
10: 33,819,714 (GRCm39) |
V200D |
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 |
|
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 |
|
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'- TATGATCGATTCCAGCACTTCTG -3'
(R):5'- CACTGCAAATTTGTTGAAACAGTGG -3'
Sequencing Primer
(F):5'- GATCGATTCCAGCACTTCTGTTTATG -3'
(R):5'- AGTGGGTCATTCTTTAATTCTTCCAG -3'
|
| Posted On |
2014-06-23 |
Incidental Mutation