Incidental Mutation 'R6845:Rnf133'
| ID |
534709 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rnf133
|
| Ensembl Gene |
ENSMUSG00000051956 |
| Gene Name |
ring finger protein 133 |
| Synonyms |
Greul2 |
| MMRRC Submission |
044951-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.092)
|
| Stock # |
R6845 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
23648868-23650304 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 23649341 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 196
(V196A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000066906
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000018122]
[ENSMUST00000063548]
[ENSMUST00000069074]
[ENSMUST00000104979]
[ENSMUST00000115354]
[ENSMUST00000115356]
[ENSMUST00000115358]
[ENSMUST00000115361]
[ENSMUST00000142913]
[ENSMUST00000163871]
[ENSMUST00000166458]
|
| 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 |
possibly damaging
Transcript: ENSMUST00000063548
AA Change: V196A
PolyPhen 2
Score 0.831 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000066906
Gene: ENSMUSG00000051956
AA Change: V196A
| 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: V239A
PolyPhen 2
Score 0.285 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000111011
Gene: ENSMUSG00000051956
AA Change: V239A
| 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 |
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 |
|
| 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 |
|
| Meta Mutation Damage Score |
0.1712 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.4%
- 20x: 98.0%
|
| Validation Efficiency |
95% (53/56) |
| 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: 53 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aadacl2fm2 |
C |
A |
3: 59,659,539 (GRCm39) |
P331T |
probably damaging |
Het |
| Adam6a |
T |
C |
12: 113,507,717 (GRCm39) |
L30P |
possibly damaging |
Het |
| Cabin1 |
G |
A |
10: 75,557,342 (GRCm39) |
R1099W |
probably damaging |
Het |
| Cdon |
C |
T |
9: 35,398,252 (GRCm39) |
Q990* |
probably null |
Het |
| Cit |
T |
A |
5: 116,122,947 (GRCm39) |
L1421Q |
probably damaging |
Het |
| Cplane1 |
T |
C |
15: 8,251,388 (GRCm39) |
S1887P |
possibly damaging |
Het |
| Ddx27 |
T |
C |
2: 166,864,016 (GRCm39) |
C242R |
probably damaging |
Het |
| Dlgap5 |
A |
T |
14: 47,654,020 (GRCm39) |
V3E |
possibly damaging |
Het |
| Dnah6 |
A |
T |
6: 73,110,525 (GRCm39) |
F1687I |
probably damaging |
Het |
| Dnase1l1 |
C |
T |
X: 73,320,644 (GRCm39) |
|
probably null |
Het |
| Duoxa1 |
A |
T |
2: 122,135,672 (GRCm39) |
Y142* |
probably null |
Het |
| F3 |
A |
G |
3: 121,526,124 (GRCm39) |
K229R |
probably benign |
Het |
| Fance |
A |
G |
17: 28,536,565 (GRCm39) |
R42G |
probably damaging |
Het |
| Foxs1 |
T |
C |
2: 152,774,619 (GRCm39) |
K145E |
probably benign |
Het |
| Gpd1l |
T |
C |
9: 114,762,785 (GRCm39) |
M1V |
probably null |
Het |
| Gpr149 |
T |
A |
3: 62,511,942 (GRCm39) |
H19L |
possibly damaging |
Het |
| Hmgcs1 |
T |
C |
13: 120,162,674 (GRCm39) |
Y213H |
probably damaging |
Het |
| Htra1 |
C |
A |
7: 130,538,021 (GRCm39) |
|
probably benign |
Het |
| Il20ra |
A |
G |
10: 19,635,059 (GRCm39) |
I433M |
probably benign |
Het |
| Il3ra |
G |
C |
14: 14,346,517 (GRCm38) |
|
probably null |
Het |
| Kif11 |
C |
T |
19: 37,392,565 (GRCm39) |
L499F |
probably damaging |
Het |
| Kifc3 |
A |
G |
8: 95,835,307 (GRCm39) |
M189T |
probably benign |
Het |
| Klk1b3 |
G |
A |
7: 43,851,127 (GRCm39) |
A187T |
probably benign |
Het |
| Klre1 |
T |
C |
6: 129,561,202 (GRCm39) |
S188P |
probably damaging |
Het |
| Krtap4-13 |
G |
A |
11: 99,700,192 (GRCm39) |
|
probably benign |
Het |
| Lgi4 |
A |
T |
7: 30,760,510 (GRCm39) |
T22S |
probably damaging |
Het |
| Lrp10 |
C |
T |
14: 54,707,145 (GRCm39) |
R661C |
probably damaging |
Het |
| Lrrtm1 |
A |
G |
6: 77,220,864 (GRCm39) |
D107G |
probably benign |
Het |
| Mad1l1 |
C |
A |
5: 139,994,924 (GRCm39) |
A701S |
probably damaging |
Het |
| Mia2 |
T |
A |
12: 59,231,064 (GRCm39) |
Y1237* |
probably null |
Het |
| Mpp4 |
T |
C |
1: 59,183,963 (GRCm39) |
D278G |
probably benign |
Het |
| Myh6 |
G |
A |
14: 55,182,206 (GRCm39) |
S1734L |
probably benign |
Het |
| Nbeal1 |
C |
T |
1: 60,320,469 (GRCm39) |
R2021* |
probably null |
Het |
| Nol4l |
T |
C |
2: 153,258,582 (GRCm39) |
T602A |
probably benign |
Het |
| Or5b109 |
T |
A |
19: 13,211,997 (GRCm39) |
C128S |
probably damaging |
Het |
| Pcdh15 |
A |
T |
10: 74,466,465 (GRCm39) |
H894L |
probably benign |
Het |
| Phldb1 |
A |
T |
9: 44,627,359 (GRCm39) |
I362N |
probably damaging |
Het |
| Plcxd2 |
T |
A |
16: 45,830,223 (GRCm39) |
|
probably benign |
Het |
| Ppp1r13l |
G |
T |
7: 19,105,323 (GRCm39) |
R365L |
probably damaging |
Het |
| Pramel16 |
T |
C |
4: 143,676,394 (GRCm39) |
T237A |
probably benign |
Het |
| Rfc1 |
A |
T |
5: 65,468,459 (GRCm39) |
S85T |
possibly damaging |
Het |
| Shank3 |
T |
C |
15: 89,432,528 (GRCm39) |
V1016A |
probably benign |
Het |
| Slc22a21 |
T |
C |
11: 53,870,466 (GRCm39) |
D73G |
probably benign |
Het |
| Slc34a2 |
T |
A |
5: 53,226,511 (GRCm39) |
F545I |
probably damaging |
Het |
| Slc4a7 |
T |
A |
14: 14,775,000 (GRCm38) |
M810K |
probably damaging |
Het |
| Ss18 |
A |
T |
18: 14,788,221 (GRCm39) |
M83K |
possibly damaging |
Het |
| Tkfc |
T |
C |
19: 10,576,696 (GRCm39) |
R94G |
probably damaging |
Het |
| Tpp2 |
T |
A |
1: 44,017,668 (GRCm39) |
C757* |
probably null |
Het |
| Trav13n-4 |
T |
C |
14: 53,599,856 (GRCm39) |
L11P |
probably damaging |
Het |
| Trpm4 |
T |
C |
7: 44,971,753 (GRCm39) |
M138V |
possibly damaging |
Het |
| Utp18 |
G |
A |
11: 93,776,582 (GRCm39) |
|
probably benign |
Het |
| Vps33a |
A |
G |
5: 123,673,335 (GRCm39) |
V417A |
probably benign |
Het |
| Zfp207 |
C |
T |
11: 80,286,317 (GRCm39) |
|
probably benign |
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 |
|
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 |
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TCCCCAGAGCTTTCAGAATG -3'
(R):5'- CATGTTACAGTCATGGTGGAGG -3'
Sequencing Primer
(F):5'- AATGTCACATTTGCACATGGGGC -3'
(R):5'- GTGGGAAGAAAACATGTCATTTGGC -3'
|
| Posted On |
2018-09-12 |
Incidental Mutation