Incidental Mutation 'IGL00836:Smurf2'
| ID |
14164 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Smurf2
|
| Ensembl Gene |
ENSMUSG00000018363 |
| Gene Name |
SMAD specific E3 ubiquitin protein ligase 2 |
| Synonyms |
2810411E22Rik |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL00836
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
11 |
| Chromosomal Location |
106710892-106811541 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 106743462 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Histidine
at position 182
(Y182H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000099356
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000092517]
[ENSMUST00000103067]
[ENSMUST00000139297]
[ENSMUST00000167787]
|
| AlphaFold |
A2A5Z6 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000092517
AA Change: Y195H
PolyPhen 2
Score 0.106 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000090177
Gene: ENSMUSG00000018363
AA Change: Y195H
| Domain | Start | End | E-Value | Type |
|---|
|
C2
|
13 |
116 |
1.51e-15 |
SMART |
|
WW
|
158 |
190 |
1.96e-11 |
SMART |
|
WW
|
252 |
284 |
2.47e-8 |
SMART |
|
WW
|
298 |
330 |
4.97e-13 |
SMART |
|
low complexity region
|
341 |
351 |
N/A |
INTRINSIC |
|
HECTc
|
412 |
748 |
1.75e-165 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000103067
AA Change: Y182H
PolyPhen 2
Score 0.170 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000099356
Gene: ENSMUSG00000018363
AA Change: Y182H
| Domain | Start | End | E-Value | Type |
|---|
|
C2
|
13 |
103 |
1e-6 |
SMART |
|
WW
|
145 |
177 |
1.96e-11 |
SMART |
|
WW
|
239 |
271 |
2.47e-8 |
SMART |
|
WW
|
285 |
317 |
4.97e-13 |
SMART |
|
low complexity region
|
328 |
338 |
N/A |
INTRINSIC |
|
HECTc
|
399 |
735 |
1.75e-165 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000139297
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000167787
AA Change: Y195H
PolyPhen 2
Score 0.106 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000129269
Gene: ENSMUSG00000018363
AA Change: Y195H
| Domain | Start | End | E-Value | Type |
|---|
|
C2
|
13 |
116 |
1.51e-15 |
SMART |
|
WW
|
158 |
190 |
1.96e-11 |
SMART |
|
WW
|
252 |
284 |
2.47e-8 |
SMART |
|
WW
|
298 |
330 |
4.97e-13 |
SMART |
|
low complexity region
|
341 |
351 |
N/A |
INTRINSIC |
|
HECTc
|
412 |
748 |
1.75e-165 |
SMART |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Mice homozygous for a knock-out allele occasionally exhibit kinked or looped tails and abnormal vertebrae. Mice homozygous or heterozygous for a gene trap allele exhibit increased tumor incidence and delayed cellular senescence. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 22 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ccdc18 |
G |
A |
5: 108,328,391 (GRCm39) |
S697N |
probably benign |
Het |
| Cyp2c29 |
A |
G |
19: 39,313,434 (GRCm39) |
D310G |
probably damaging |
Het |
| Cyp4f13 |
G |
A |
17: 33,160,138 (GRCm39) |
H79Y |
probably benign |
Het |
| Dtna |
T |
C |
18: 23,730,545 (GRCm39) |
S311P |
probably benign |
Het |
| Dynlrb2 |
A |
G |
8: 117,241,572 (GRCm39) |
T39A |
probably benign |
Het |
| Erc2 |
T |
C |
14: 27,762,478 (GRCm39) |
I747T |
probably damaging |
Het |
| Herc6 |
G |
A |
6: 57,596,534 (GRCm39) |
M491I |
probably damaging |
Het |
| Klra3 |
A |
T |
6: 130,304,107 (GRCm39) |
I195N |
probably benign |
Het |
| Lama3 |
A |
G |
18: 12,605,285 (GRCm39) |
I1080V |
probably benign |
Het |
| Pls1 |
A |
G |
9: 95,643,475 (GRCm39) |
V508A |
possibly damaging |
Het |
| Prdm10 |
C |
A |
9: 31,241,165 (GRCm39) |
|
probably benign |
Het |
| Rnase1 |
T |
A |
14: 51,383,003 (GRCm39) |
Y117F |
probably benign |
Het |
| S100pbp |
A |
T |
4: 129,075,901 (GRCm39) |
N141K |
possibly damaging |
Het |
| Sin3a |
T |
A |
9: 57,014,629 (GRCm39) |
|
probably null |
Het |
| Slc2a2 |
G |
A |
3: 28,772,890 (GRCm39) |
A228T |
possibly damaging |
Het |
| Snx2 |
T |
A |
18: 53,349,472 (GRCm39) |
M411K |
possibly damaging |
Het |
| Stx17 |
T |
C |
4: 48,158,955 (GRCm39) |
S90P |
possibly damaging |
Het |
| Stxbp5l |
A |
T |
16: 37,028,462 (GRCm39) |
S534T |
possibly damaging |
Het |
| Tacc2 |
A |
G |
7: 130,360,898 (GRCm39) |
D2730G |
probably damaging |
Het |
| Timm8b |
A |
G |
9: 50,516,294 (GRCm39) |
D49G |
possibly damaging |
Het |
| Ufd1 |
G |
T |
16: 18,646,468 (GRCm39) |
|
probably benign |
Het |
| Zfp974 |
T |
C |
7: 27,610,315 (GRCm39) |
E470G |
possibly damaging |
Het |
|
| Other mutations in Smurf2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00980:Smurf2
|
APN |
11 |
106,726,921 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01346:Smurf2
|
APN |
11 |
106,721,741 (GRCm39) |
splice site |
probably benign |
|
|
IGL02016:Smurf2
|
APN |
11 |
106,713,504 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02937:Smurf2
|
APN |
11 |
106,736,873 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03136:Smurf2
|
APN |
11 |
106,721,874 (GRCm39) |
missense |
probably benign |
0.38 |
|
R0513:Smurf2
|
UTSW |
11 |
106,726,931 (GRCm39) |
missense |
probably benign |
0.22 |
|
R1171:Smurf2
|
UTSW |
11 |
106,743,444 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R1459:Smurf2
|
UTSW |
11 |
106,743,333 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R1687:Smurf2
|
UTSW |
11 |
106,726,896 (GRCm39) |
splice site |
probably null |
|
|
R1697:Smurf2
|
UTSW |
11 |
106,715,514 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R1706:Smurf2
|
UTSW |
11 |
106,715,573 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2064:Smurf2
|
UTSW |
11 |
106,762,374 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2072:Smurf2
|
UTSW |
11 |
106,732,595 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2433:Smurf2
|
UTSW |
11 |
106,759,490 (GRCm39) |
missense |
probably benign |
0.06 |
|
R5250:Smurf2
|
UTSW |
11 |
106,747,005 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5531:Smurf2
|
UTSW |
11 |
106,743,389 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
R5835:Smurf2
|
UTSW |
11 |
106,726,974 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5966:Smurf2
|
UTSW |
11 |
106,766,727 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R6093:Smurf2
|
UTSW |
11 |
106,759,449 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R6230:Smurf2
|
UTSW |
11 |
106,759,330 (GRCm39) |
splice site |
probably null |
|
|
R6373:Smurf2
|
UTSW |
11 |
106,724,595 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7011:Smurf2
|
UTSW |
11 |
106,724,610 (GRCm39) |
missense |
probably benign |
0.16 |
|
R7335:Smurf2
|
UTSW |
11 |
106,736,911 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
R7472:Smurf2
|
UTSW |
11 |
106,726,921 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7851:Smurf2
|
UTSW |
11 |
106,721,752 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8246:Smurf2
|
UTSW |
11 |
106,721,870 (GRCm39) |
missense |
probably benign |
0.02 |
|
R8319:Smurf2
|
UTSW |
11 |
106,715,578 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8739:Smurf2
|
UTSW |
11 |
106,743,322 (GRCm39) |
nonsense |
probably null |
|
|
R9211:Smurf2
|
UTSW |
11 |
106,759,463 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9329:Smurf2
|
UTSW |
11 |
106,743,424 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9447:Smurf2
|
UTSW |
11 |
106,715,548 (GRCm39) |
missense |
probably damaging |
1.00 |
|
RF002:Smurf2
|
UTSW |
11 |
106,743,413 (GRCm39) |
missense |
probably benign |
0.22 |
|
Z1176:Smurf2
|
UTSW |
11 |
106,762,355 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2012-12-06 |
Incidental Mutation