Incidental Mutation 'IGL01907:Rnf133'
ID |
179703 |
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 # |
IGL01907
|
Quality Score |
|
Status
|
|
Chromosome |
6 |
Chromosomal Location |
23648868-23650304 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 23649303 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Aspartic acid
at position 209
(N209D)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000066906
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000018122]
[ENSMUST00000063548]
[ENSMUST00000069074]
[ENSMUST00000104979]
[ENSMUST00000115354]
[ENSMUST00000115356]
[ENSMUST00000115358]
[ENSMUST00000115361]
[ENSMUST00000163871]
[ENSMUST00000166458]
[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: N209D
PolyPhen 2
Score 0.036 (Sensitivity: 0.94; Specificity: 0.82)
|
SMART Domains |
Protein: ENSMUSP00000066906 Gene: ENSMUSG00000051956 AA Change: N209D
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: N252D
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
SMART Domains |
Protein: ENSMUSP00000111011 Gene: ENSMUSG00000051956 AA Change: N252D
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 |
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 |
noncoding transcript
Transcript: ENSMUST00000136279
|
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: 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: 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 |
Ap1g1 |
T |
C |
8: 110,569,975 (GRCm39) |
|
probably benign |
Het |
Asph |
A |
T |
4: 9,514,643 (GRCm39) |
D491E |
possibly damaging |
Het |
Cyrib |
A |
G |
15: 63,803,535 (GRCm39) |
|
probably benign |
Het |
D930020B18Rik |
A |
G |
10: 121,477,915 (GRCm39) |
N47D |
probably damaging |
Het |
Gad1 |
T |
C |
2: 70,404,470 (GRCm39) |
V120A |
possibly damaging |
Het |
Gm10717 |
C |
T |
9: 3,025,616 (GRCm39) |
S67L |
probably benign |
Het |
Gm10717 |
A |
T |
9: 3,026,287 (GRCm39) |
Y195F |
probably damaging |
Het |
Grin2b |
T |
G |
6: 135,710,738 (GRCm39) |
E936A |
probably damaging |
Het |
Iars1 |
T |
C |
13: 49,863,131 (GRCm39) |
F528L |
probably damaging |
Het |
Iyd |
C |
T |
10: 3,490,407 (GRCm39) |
P38S |
probably damaging |
Het |
Krt24 |
A |
G |
11: 99,176,030 (GRCm39) |
F2L |
unknown |
Het |
Mnat1 |
T |
A |
12: 73,319,213 (GRCm39) |
S279T |
probably benign |
Het |
Mptx1 |
A |
T |
1: 174,160,212 (GRCm39) |
I173L |
probably benign |
Het |
Or9g20 |
T |
A |
2: 85,629,946 (GRCm39) |
T223S |
probably benign |
Het |
Per1 |
T |
C |
11: 68,996,425 (GRCm39) |
S810P |
probably benign |
Het |
Racgap1 |
T |
A |
15: 99,524,214 (GRCm39) |
K398* |
probably null |
Het |
Rp1 |
T |
C |
1: 4,418,730 (GRCm39) |
E794G |
possibly damaging |
Het |
Ryr3 |
A |
T |
2: 112,699,346 (GRCm39) |
|
probably benign |
Het |
Slc27a2 |
A |
G |
2: 126,429,794 (GRCm39) |
T465A |
probably benign |
Het |
Smarca2 |
T |
C |
19: 26,675,865 (GRCm39) |
M1035T |
possibly damaging |
Het |
Spink5 |
A |
G |
18: 44,129,743 (GRCm39) |
N445D |
probably damaging |
Het |
Stard3nl |
G |
A |
13: 19,556,759 (GRCm39) |
A127V |
probably damaging |
Het |
Trim69 |
C |
T |
2: 121,998,142 (GRCm39) |
T38M |
probably benign |
Het |
Vmn2r129 |
C |
T |
4: 156,690,549 (GRCm39) |
|
noncoding transcript |
Het |
Zfp438 |
G |
A |
18: 5,213,815 (GRCm39) |
A381V |
probably damaging |
Het |
|
Other mutations in Rnf133 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00491:Rnf133
|
APN |
6 |
23,649,255 (GRCm39) |
missense |
probably benign |
0.00 |
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 |
2014-05-07 |