Incidental Mutation 'R8354:Rfx7'
| ID |
660610 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rfx7
|
| Ensembl Gene |
ENSMUSG00000037674 |
| Gene Name |
regulatory factor X, 7 |
| Synonyms |
2510005N23Rik, D130086K05Rik, 9930116O05Rik, Rfxdc2 |
| MMRRC Submission |
067806-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.901)
|
| Stock # |
R8354 (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 72526731 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 1307
(V1307A)
|
| 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: V1307A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000091338
Gene: ENSMUSG00000037674
AA Change: V1307A
| 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: V1307A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000127192
Gene: ENSMUSG00000037674
AA Change: V1307A
| 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 |
99% (70/71) |
| 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: 71 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abhd12 |
A |
T |
2: 150,676,297 (GRCm39) |
S353R |
probably damaging |
Het |
| Ap1ar |
T |
C |
3: 127,606,428 (GRCm39) |
|
probably null |
Het |
| Asxl1 |
C |
A |
2: 153,235,345 (GRCm39) |
N213K |
probably benign |
Het |
| Cacna1e |
A |
G |
1: 154,274,314 (GRCm39) |
V2197A |
probably damaging |
Het |
| Cacna2d2 |
G |
A |
9: 107,401,334 (GRCm39) |
E706K |
possibly damaging |
Het |
| Cfap46 |
C |
T |
7: 139,233,414 (GRCm39) |
V296I |
probably benign |
Het |
| Cldn5 |
A |
G |
16: 18,596,043 (GRCm39) |
T100A |
probably benign |
Het |
| Ctnna1 |
C |
A |
18: 35,385,776 (GRCm39) |
N802K |
possibly damaging |
Het |
| Dennd2b |
G |
A |
7: 109,124,755 (GRCm39) |
R675* |
probably null |
Het |
| Dip2c |
A |
G |
13: 9,671,918 (GRCm39) |
T968A |
probably benign |
Het |
| Dnaaf5 |
ACCCAGCACCTGGAGATCGTCC |
ACC |
5: 139,147,614 (GRCm39) |
|
probably null |
Het |
| Dnah8 |
A |
T |
17: 30,862,234 (GRCm39) |
D203V |
probably benign |
Het |
| Dnajc13 |
A |
G |
9: 104,094,927 (GRCm39) |
M585T |
probably damaging |
Het |
| Donson |
G |
T |
16: 91,480,685 (GRCm39) |
T262K |
possibly damaging |
Het |
| E2f3 |
T |
A |
13: 30,169,787 (GRCm39) |
|
probably benign |
Het |
| Fam110c |
A |
G |
12: 31,125,178 (GRCm39) |
E380G |
possibly damaging |
Het |
| Gbp9 |
T |
G |
5: 105,242,027 (GRCm39) |
T177P |
probably damaging |
Het |
| Gins3 |
C |
T |
8: 96,364,646 (GRCm39) |
A132V |
probably benign |
Het |
| Glra3 |
T |
A |
8: 56,578,345 (GRCm39) |
Y467* |
probably null |
Het |
| Gm7138 |
A |
G |
10: 77,612,444 (GRCm39) |
|
probably benign |
Het |
| Golim4 |
T |
C |
3: 75,802,308 (GRCm39) |
E328G |
probably damaging |
Het |
| Habp2 |
T |
A |
19: 56,301,388 (GRCm39) |
C270* |
probably null |
Het |
| Hecw2 |
A |
G |
1: 53,964,467 (GRCm39) |
|
probably null |
Het |
| Hmcn1 |
A |
T |
1: 150,634,142 (GRCm39) |
Y815N |
possibly damaging |
Het |
| Igfn1 |
A |
T |
1: 135,887,619 (GRCm39) |
C2482S |
possibly damaging |
Het |
| Igkv4-71 |
A |
G |
6: 69,220,260 (GRCm39) |
V57A |
probably damaging |
Het |
| Itpkb |
G |
A |
1: 180,160,908 (GRCm39) |
E345K |
possibly damaging |
Het |
| Itpr3 |
G |
A |
17: 27,334,893 (GRCm39) |
V2136M |
possibly damaging |
Het |
| Kcnh3 |
A |
G |
15: 99,127,211 (GRCm39) |
T336A |
probably damaging |
Het |
| Kdm4d |
T |
C |
9: 14,375,235 (GRCm39) |
T208A |
possibly damaging |
Het |
| Kntc1 |
T |
C |
5: 123,916,330 (GRCm39) |
F721S |
probably damaging |
Het |
| Krt10 |
A |
G |
11: 99,280,086 (GRCm39) |
|
probably benign |
Het |
| Lgals3bp |
T |
A |
11: 118,289,367 (GRCm39) |
N28I |
probably damaging |
Het |
| Matn2 |
T |
C |
15: 34,378,843 (GRCm39) |
L293P |
probably damaging |
Het |
| Mical3 |
T |
C |
6: 120,950,381 (GRCm39) |
E1010G |
probably damaging |
Het |
| Mpp4 |
C |
A |
1: 59,169,224 (GRCm39) |
R380L |
probably damaging |
Het |
| Msh5 |
A |
G |
17: 35,250,742 (GRCm39) |
F469L |
possibly damaging |
Het |
| Ncam2 |
A |
G |
16: 81,309,847 (GRCm39) |
T446A |
probably benign |
Het |
| Neurl4 |
A |
G |
11: 69,800,062 (GRCm39) |
D1050G |
probably damaging |
Het |
| Olfml2b |
T |
C |
1: 170,509,793 (GRCm39) |
Y714H |
possibly damaging |
Het |
| Or5d43 |
T |
C |
2: 88,105,036 (GRCm39) |
D119G |
probably damaging |
Het |
| Or8c17 |
T |
C |
9: 38,180,513 (GRCm39) |
S235P |
probably benign |
Het |
| Pcnx2 |
T |
C |
8: 126,488,357 (GRCm39) |
E1729G |
probably damaging |
Het |
| Peg10 |
GCACATCAGGATCC |
GCACATCAGGATCCCCATCAGGATCCTCCACATCAGGATCC |
6: 4,756,452 (GRCm39) |
|
probably benign |
Het |
| Pex1 |
T |
A |
5: 3,681,707 (GRCm39) |
L1051Q |
probably damaging |
Het |
| Prkag2 |
T |
A |
5: 25,074,137 (GRCm39) |
R283* |
probably null |
Het |
| Prrc1 |
T |
A |
18: 57,504,503 (GRCm39) |
M238K |
probably damaging |
Het |
| Ptprj |
T |
C |
2: 90,300,061 (GRCm39) |
T247A |
probably benign |
Het |
| Ptprz1 |
A |
G |
6: 22,999,614 (GRCm39) |
Y568C |
probably damaging |
Het |
| Rab36 |
G |
A |
10: 74,884,291 (GRCm39) |
A114T |
probably damaging |
Het |
| Scaf1 |
A |
C |
7: 44,657,251 (GRCm39) |
|
probably benign |
Het |
| Sema4g |
A |
T |
19: 44,986,866 (GRCm39) |
T440S |
probably benign |
Het |
| Setbp1 |
A |
T |
18: 78,900,598 (GRCm39) |
V1023E |
probably damaging |
Het |
| Slc46a2 |
T |
C |
4: 59,913,931 (GRCm39) |
I331V |
possibly damaging |
Het |
| Slc4a7 |
C |
T |
14: 14,786,313 (GRCm38) |
R1000C |
probably damaging |
Het |
| Sorcs2 |
T |
C |
5: 36,222,753 (GRCm39) |
H162R |
probably benign |
Het |
| Spata31f1e |
T |
A |
4: 42,793,223 (GRCm39) |
H303L |
probably benign |
Het |
| Strip2 |
G |
A |
6: 29,920,531 (GRCm39) |
|
probably null |
Het |
| Stx2 |
T |
A |
5: 129,071,932 (GRCm39) |
I42L |
probably benign |
Het |
| Tas2r124 |
A |
T |
6: 132,732,410 (GRCm39) |
T240S |
probably benign |
Het |
| Tgfbrap1 |
A |
T |
1: 43,115,070 (GRCm39) |
V10D |
probably damaging |
Het |
| Tmem41a |
T |
A |
16: 21,766,181 (GRCm39) |
Y19F |
probably benign |
Het |
| Tmprss5 |
A |
G |
9: 49,018,439 (GRCm39) |
T74A |
possibly damaging |
Het |
| Trim16 |
G |
T |
11: 62,727,587 (GRCm39) |
R216L |
probably benign |
Het |
| Trmt10c |
T |
C |
16: 55,854,870 (GRCm39) |
K255R |
probably benign |
Het |
| Trpm2 |
A |
T |
10: 77,769,483 (GRCm39) |
V747E |
probably damaging |
Het |
| Ube2v2 |
T |
C |
16: 15,399,005 (GRCm39) |
D28G |
possibly damaging |
Het |
| Uty |
G |
A |
Y: 1,157,928 (GRCm39) |
T705I |
possibly damaging |
Het |
| Vmn2r80 |
A |
T |
10: 78,984,710 (GRCm39) |
I21F |
probably benign |
Het |
| Wdr11 |
T |
C |
7: 129,204,723 (GRCm39) |
L176S |
probably damaging |
Het |
| Zfp992 |
A |
G |
4: 146,551,319 (GRCm39) |
T347A |
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 |
|
|
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'- TCCCAAACGCTCTGCAGAAG -3'
(R):5'- AGATCAGATGCCACCTGACC -3'
Sequencing Primer
(F):5'- CAGTGAGAGGTTTGGGAATTA -3'
(R):5'- ACCTGACCTACCAGCTGCTG -3'
|
| Posted On |
2021-01-18 |
Incidental Mutation