Incidental Mutation 'IGL01972:Rnf133'
| ID |
181658 |
| 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 # |
IGL01972
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
6 |
| Chromosomal Location |
23648868-23650304 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 23648988 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 357
(T357A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000111011
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000018122]
[ENSMUST00000063548]
[ENSMUST00000069074]
[ENSMUST00000104979]
[ENSMUST00000115354]
[ENSMUST00000115356]
[ENSMUST00000115358]
[ENSMUST00000166458]
[ENSMUST00000163871]
[ENSMUST00000115361]
[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: T314A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000066906
Gene: ENSMUSG00000051956
AA Change: T314A
| 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: T357A
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000111011
Gene: ENSMUSG00000051956
AA Change: T357A
| 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: 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: 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: 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: 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: 23 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ahr |
T |
G |
12: 35,554,448 (GRCm39) |
D557A |
possibly damaging |
Het |
| Akap11 |
T |
C |
14: 78,745,297 (GRCm39) |
Q1697R |
probably damaging |
Het |
| Alpi |
T |
A |
1: 87,027,431 (GRCm39) |
T312S |
probably damaging |
Het |
| Cacna1b |
C |
A |
2: 24,525,107 (GRCm39) |
|
probably null |
Het |
| Car5a |
C |
T |
8: 122,653,821 (GRCm39) |
|
probably null |
Het |
| Cubn |
T |
C |
2: 13,450,883 (GRCm39) |
T841A |
possibly damaging |
Het |
| Eml6 |
A |
T |
11: 29,788,451 (GRCm39) |
F545I |
possibly damaging |
Het |
| Fam114a2 |
G |
A |
11: 57,400,220 (GRCm39) |
T156I |
probably damaging |
Het |
| Fbxl21 |
C |
T |
13: 56,684,672 (GRCm39) |
R259* |
probably null |
Het |
| Fhip1b |
T |
C |
7: 105,039,352 (GRCm39) |
N5S |
probably damaging |
Het |
| Gm5117 |
C |
T |
8: 32,227,787 (GRCm39) |
|
noncoding transcript |
Het |
| Hc |
T |
C |
2: 34,873,784 (GRCm39) |
Y1650C |
probably damaging |
Het |
| Med12l |
C |
A |
3: 59,169,314 (GRCm39) |
T1568K |
probably damaging |
Het |
| Mtrex |
T |
C |
13: 113,017,595 (GRCm39) |
K853E |
probably damaging |
Het |
| Or2ag2b |
A |
G |
7: 106,417,739 (GRCm39) |
I150V |
probably benign |
Het |
| Or5g27 |
T |
C |
2: 85,410,117 (GRCm39) |
F178S |
probably damaging |
Het |
| Or6n1 |
G |
T |
1: 173,916,987 (GRCm39) |
C127F |
probably damaging |
Het |
| Orm3 |
A |
G |
4: 63,277,563 (GRCm39) |
S184G |
probably benign |
Het |
| Padi1 |
A |
G |
4: 140,546,170 (GRCm39) |
|
probably benign |
Het |
| Tmem17 |
A |
G |
11: 22,467,265 (GRCm39) |
S60G |
probably benign |
Het |
| Ubqlnl |
G |
T |
7: 103,798,904 (GRCm39) |
Q198K |
probably benign |
Het |
| Vmn1r69 |
A |
T |
7: 10,314,586 (GRCm39) |
Y48* |
probably null |
Het |
| Zfp658 |
G |
A |
7: 43,222,134 (GRCm39) |
W136* |
probably null |
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 |
|
IGL01907:Rnf133
|
APN |
6 |
23,649,303 (GRCm39) |
missense |
probably benign |
0.04 |
|
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 |
Incidental Mutation