Incidental Mutation 'IGL00491:Rnf133'
ID |
5472 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Rnf133
|
Ensembl Gene |
ENSMUSG00000051956 |
Gene Name |
ring finger protein 133 |
Synonyms |
Greul2 |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.092)
|
Stock # |
IGL00491
|
Quality Score |
|
Status
|
|
Chromosome |
6 |
Chromosomal Location |
23648868-23650304 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 23649255 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Valine
at position 225
(I225V)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000066906
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000018122]
[ENSMUST00000063548]
[ENSMUST00000069074]
[ENSMUST00000104979]
[ENSMUST00000115354]
[ENSMUST00000115356]
[ENSMUST00000163871]
[ENSMUST00000166458]
[ENSMUST00000115361]
[ENSMUST00000115358]
[ENSMUST00000142913]
|
AlphaFold |
Q14B02 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000018122
|
SMART Domains |
Protein: ENSMUSP00000018122 Gene: ENSMUSG00000017978
Domain | Start | End | E-Value | Type |
low complexity region
|
5 |
21 |
N/A |
INTRINSIC |
low complexity region
|
31 |
65 |
N/A |
INTRINSIC |
low complexity region
|
114 |
126 |
N/A |
INTRINSIC |
coiled coil region
|
265 |
285 |
N/A |
INTRINSIC |
C2
|
369 |
467 |
1.51e-1 |
SMART |
PH
|
492 |
596 |
2.94e-11 |
SMART |
DUF1041
|
801 |
902 |
1.14e-52 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000063548
AA Change: I225V
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
SMART Domains |
Protein: ENSMUSP00000066906 Gene: ENSMUSG00000051956 AA Change: I225V
Domain | Start | End | E-Value | Type |
Pfam:PA
|
94 |
162 |
3.6e-11 |
PFAM |
RING
|
213 |
253 |
6.43e-8 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000069074
|
SMART Domains |
Protein: ENSMUSP00000064876 Gene: ENSMUSG00000017978
Domain | Start | End | E-Value | Type |
low complexity region
|
5 |
21 |
N/A |
INTRINSIC |
low complexity region
|
31 |
65 |
N/A |
INTRINSIC |
low complexity region
|
114 |
126 |
N/A |
INTRINSIC |
coiled coil region
|
265 |
285 |
N/A |
INTRINSIC |
C2
|
369 |
467 |
1.51e-1 |
SMART |
PH
|
492 |
596 |
2.94e-11 |
SMART |
DUF1041
|
801 |
895 |
5.54e-51 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000104979
|
SMART Domains |
Protein: ENSMUSP00000100592 Gene: ENSMUSG00000078179
Domain | Start | End | E-Value | Type |
low complexity region
|
25 |
43 |
N/A |
INTRINSIC |
Pfam:PA
|
82 |
178 |
1e-13 |
PFAM |
RING
|
269 |
309 |
1.82e-7 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000115354
AA Change: I268V
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000111011 Gene: ENSMUSG00000051956 AA Change: I268V
Domain | Start | End | E-Value | Type |
Pfam:PA
|
70 |
165 |
1.9e-13 |
PFAM |
RING
|
256 |
296 |
6.43e-8 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000115356
|
SMART Domains |
Protein: ENSMUSP00000111013 Gene: ENSMUSG00000017978
Domain | Start | End | E-Value | Type |
low complexity region
|
5 |
21 |
N/A |
INTRINSIC |
low complexity region
|
31 |
65 |
N/A |
INTRINSIC |
low complexity region
|
114 |
126 |
N/A |
INTRINSIC |
coiled coil region
|
265 |
285 |
N/A |
INTRINSIC |
C2
|
369 |
467 |
1.51e-1 |
SMART |
PH
|
492 |
596 |
2.94e-11 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000136279
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000163871
|
SMART Domains |
Protein: ENSMUSP00000128905 Gene: ENSMUSG00000017978
Domain | Start | End | E-Value | Type |
low complexity region
|
5 |
21 |
N/A |
INTRINSIC |
low complexity region
|
31 |
65 |
N/A |
INTRINSIC |
low complexity region
|
114 |
126 |
N/A |
INTRINSIC |
coiled coil region
|
265 |
285 |
N/A |
INTRINSIC |
C2
|
369 |
467 |
1.51e-1 |
SMART |
PH
|
492 |
596 |
2.94e-11 |
SMART |
DUF1041
|
801 |
902 |
7.2e-50 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000166458
|
SMART Domains |
Protein: ENSMUSP00000125972 Gene: ENSMUSG00000017978
Domain | Start | End | E-Value | Type |
low complexity region
|
5 |
21 |
N/A |
INTRINSIC |
low complexity region
|
85 |
97 |
N/A |
INTRINSIC |
coiled coil region
|
236 |
256 |
N/A |
INTRINSIC |
C2
|
340 |
438 |
1.51e-1 |
SMART |
PH
|
463 |
567 |
2.94e-11 |
SMART |
DUF1041
|
772 |
873 |
1.05e-51 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000115361
|
SMART Domains |
Protein: ENSMUSP00000111018 Gene: ENSMUSG00000017978
Domain | Start | End | E-Value | Type |
low complexity region
|
5 |
21 |
N/A |
INTRINSIC |
low complexity region
|
31 |
65 |
N/A |
INTRINSIC |
low complexity region
|
114 |
126 |
N/A |
INTRINSIC |
coiled coil region
|
265 |
285 |
N/A |
INTRINSIC |
C2
|
369 |
467 |
1.51e-1 |
SMART |
PH
|
492 |
596 |
2.94e-11 |
SMART |
DUF1041
|
801 |
892 |
1.9e-49 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000115358
|
SMART Domains |
Protein: ENSMUSP00000111015 Gene: ENSMUSG00000017978
Domain | Start | End | E-Value | Type |
low complexity region
|
5 |
21 |
N/A |
INTRINSIC |
low complexity region
|
31 |
65 |
N/A |
INTRINSIC |
low complexity region
|
114 |
126 |
N/A |
INTRINSIC |
coiled coil region
|
265 |
285 |
N/A |
INTRINSIC |
C2
|
369 |
467 |
1.51e-1 |
SMART |
PH
|
492 |
596 |
2.94e-11 |
SMART |
DUF1041
|
801 |
902 |
1.14e-52 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000142913
|
SMART Domains |
Protein: ENSMUSP00000138167 Gene: ENSMUSG00000017978
Domain | Start | End | E-Value | Type |
low complexity region
|
5 |
21 |
N/A |
INTRINSIC |
low complexity region
|
22 |
39 |
N/A |
INTRINSIC |
low complexity region
|
85 |
97 |
N/A |
INTRINSIC |
coiled coil region
|
236 |
256 |
N/A |
INTRINSIC |
C2
|
340 |
438 |
1.51e-1 |
SMART |
PH
|
463 |
567 |
2.94e-11 |
SMART |
DUF1041
|
772 |
873 |
1.14e-52 |
SMART |
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene contains a RING finger domain, a motif present in a variety of functionally distinct proteins and known to be involved in protein-protein and protein-DNA interactions. This gene has no intron. [provided by RefSeq, Jul 2008]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 25 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adamts20 |
G |
T |
15: 94,171,113 (GRCm39) |
S1870Y |
possibly damaging |
Het |
Bcorl1 |
T |
G |
X: 47,494,919 (GRCm39) |
V1730G |
probably damaging |
Het |
Ccdc7a |
A |
G |
8: 129,753,235 (GRCm39) |
|
probably benign |
Het |
Col13a1 |
T |
A |
10: 61,699,784 (GRCm39) |
|
probably null |
Het |
Dgkq |
A |
G |
5: 108,802,448 (GRCm39) |
S417P |
possibly damaging |
Het |
Dnah1 |
A |
G |
14: 30,983,796 (GRCm39) |
Y4016H |
probably damaging |
Het |
Dnajc1 |
A |
G |
2: 18,313,713 (GRCm39) |
V136A |
possibly damaging |
Het |
Fcgbp |
A |
G |
7: 27,792,827 (GRCm39) |
T944A |
probably damaging |
Het |
Gm10351 |
A |
T |
7: 42,749,217 (GRCm39) |
|
noncoding transcript |
Het |
Mettl9 |
T |
A |
7: 120,651,336 (GRCm39) |
V17E |
probably damaging |
Het |
Msh5 |
A |
G |
17: 35,249,706 (GRCm39) |
V613A |
probably damaging |
Het |
Nup54 |
T |
A |
5: 92,565,344 (GRCm39) |
I458L |
probably benign |
Het |
Oxct1 |
A |
G |
15: 4,125,996 (GRCm39) |
N365D |
probably damaging |
Het |
Patl1 |
T |
A |
19: 11,907,251 (GRCm39) |
N378K |
probably benign |
Het |
Plcl1 |
T |
C |
1: 55,752,657 (GRCm39) |
|
probably null |
Het |
Polk |
A |
T |
13: 96,633,268 (GRCm39) |
D258E |
probably benign |
Het |
Ppm1f |
T |
C |
16: 16,741,777 (GRCm39) |
L417P |
probably benign |
Het |
Robo4 |
A |
T |
9: 37,317,231 (GRCm39) |
K463N |
possibly damaging |
Het |
Slc12a2 |
T |
A |
18: 58,069,477 (GRCm39) |
D1019E |
probably damaging |
Het |
Spock1 |
C |
A |
13: 57,704,619 (GRCm39) |
R116S |
possibly damaging |
Het |
Stambp |
G |
T |
6: 83,533,280 (GRCm39) |
L328I |
probably damaging |
Het |
Tdrd7 |
T |
C |
4: 46,010,889 (GRCm39) |
C598R |
probably damaging |
Het |
Tmem87a |
A |
G |
2: 120,210,261 (GRCm39) |
|
probably benign |
Het |
Tpra1 |
A |
G |
6: 88,887,390 (GRCm39) |
|
probably benign |
Het |
Vps13c |
A |
G |
9: 67,800,418 (GRCm39) |
E544G |
probably damaging |
Het |
|
Other mutations in Rnf133 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01907:Rnf133
|
APN |
6 |
23,649,303 (GRCm39) |
missense |
probably benign |
0.04 |
IGL01972:Rnf133
|
APN |
6 |
23,648,988 (GRCm39) |
missense |
probably benign |
0.00 |
IGL03025:Rnf133
|
APN |
6 |
23,649,134 (GRCm39) |
missense |
probably benign |
0.03 |
R0682:Rnf133
|
UTSW |
6 |
23,649,569 (GRCm39) |
missense |
probably damaging |
1.00 |
R2251:Rnf133
|
UTSW |
6 |
23,649,174 (GRCm39) |
missense |
probably benign |
0.01 |
R2253:Rnf133
|
UTSW |
6 |
23,649,174 (GRCm39) |
missense |
probably benign |
0.01 |
R2970:Rnf133
|
UTSW |
6 |
23,649,405 (GRCm39) |
missense |
probably benign |
0.01 |
R4204:Rnf133
|
UTSW |
6 |
23,649,048 (GRCm39) |
missense |
probably benign |
0.00 |
R4600:Rnf133
|
UTSW |
6 |
23,649,041 (GRCm39) |
missense |
possibly damaging |
0.86 |
R4601:Rnf133
|
UTSW |
6 |
23,649,041 (GRCm39) |
missense |
possibly damaging |
0.86 |
R5123:Rnf133
|
UTSW |
6 |
23,649,259 (GRCm39) |
missense |
probably damaging |
0.99 |
R6845:Rnf133
|
UTSW |
6 |
23,649,341 (GRCm39) |
missense |
possibly damaging |
0.83 |
R6877:Rnf133
|
UTSW |
6 |
23,649,486 (GRCm39) |
missense |
probably benign |
0.01 |
R7263:Rnf133
|
UTSW |
6 |
23,649,667 (GRCm39) |
nonsense |
probably null |
|
R8427:Rnf133
|
UTSW |
6 |
23,649,405 (GRCm39) |
missense |
probably benign |
0.01 |
R9111:Rnf133
|
UTSW |
6 |
23,648,928 (GRCm39) |
missense |
probably benign |
|
|
Posted On |
2012-04-20 |