Incidental Mutation 'IGL00980:Smurf2'
| ID |
28658 |
| 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 # |
IGL00980
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
11 |
| Chromosomal Location |
106710892-106811541 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 106726921 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Serine
at position 469
(I469S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000129269
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000092517]
[ENSMUST00000103067]
[ENSMUST00000139297]
[ENSMUST00000167787]
|
| AlphaFold |
A2A5Z6 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000092517
AA Change: I469S
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000090177
Gene: ENSMUSG00000018363
AA Change: I469S
| 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 damaging
Transcript: ENSMUST00000103067
AA Change: I456S
PolyPhen 2
Score 0.968 (Sensitivity: 0.77; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000099356
Gene: ENSMUSG00000018363
AA Change: I456S
| 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 |
noncoding transcript
Transcript: ENSMUST00000144027
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000167787
AA Change: I469S
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000129269
Gene: ENSMUSG00000018363
AA Change: I469S
| 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: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam2 |
A |
T |
14: 66,293,977 (GRCm39) |
Y283* |
probably null |
Het |
| Bend3 |
C |
A |
10: 43,387,562 (GRCm39) |
Q652K |
probably damaging |
Het |
| Bltp1 |
C |
T |
3: 37,054,190 (GRCm39) |
T3103I |
probably damaging |
Het |
| Ccdc136 |
G |
A |
6: 29,420,257 (GRCm39) |
S992N |
probably damaging |
Het |
| Cct6a |
T |
C |
5: 129,868,856 (GRCm39) |
|
probably benign |
Het |
| Cd74 |
A |
T |
18: 60,944,398 (GRCm39) |
I203F |
probably benign |
Het |
| Cd8b1 |
C |
A |
6: 71,309,463 (GRCm39) |
C182* |
probably null |
Het |
| Cmtr1 |
T |
A |
17: 29,910,258 (GRCm39) |
D454E |
probably benign |
Het |
| Cyp2b13 |
T |
A |
7: 25,781,152 (GRCm39) |
F188Y |
probably benign |
Het |
| Dppa2 |
T |
C |
16: 48,132,049 (GRCm39) |
S49P |
possibly damaging |
Het |
| Fhl5 |
G |
T |
4: 25,207,181 (GRCm39) |
L196I |
possibly damaging |
Het |
| Gimap4 |
T |
A |
6: 48,667,872 (GRCm39) |
V81D |
probably damaging |
Het |
| Gm4884 |
T |
G |
7: 40,693,150 (GRCm39) |
M373R |
probably damaging |
Het |
| Gnrhr |
C |
T |
5: 86,345,162 (GRCm39) |
|
probably null |
Het |
| H2-Oa |
T |
G |
17: 34,313,537 (GRCm39) |
L196R |
probably damaging |
Het |
| Icosl |
T |
C |
10: 77,907,805 (GRCm39) |
S122P |
probably damaging |
Het |
| Itpr3 |
A |
G |
17: 27,329,930 (GRCm39) |
T1575A |
probably benign |
Het |
| Krt80 |
T |
C |
15: 101,247,879 (GRCm39) |
K373E |
possibly damaging |
Het |
| Lamp1 |
G |
A |
8: 13,221,195 (GRCm39) |
|
probably benign |
Het |
| Npvf |
T |
C |
6: 50,627,865 (GRCm39) |
K185E |
probably damaging |
Het |
| Nuf2 |
A |
G |
1: 169,338,003 (GRCm39) |
M258T |
probably damaging |
Het |
| Or6b2 |
T |
C |
1: 92,407,402 (GRCm39) |
|
probably null |
Het |
| Or8b36 |
G |
A |
9: 37,937,107 (GRCm39) |
V2I |
probably benign |
Het |
| Soat1 |
T |
A |
1: 156,268,911 (GRCm39) |
H180L |
probably benign |
Het |
| Spink5 |
G |
T |
18: 44,140,777 (GRCm39) |
D659Y |
probably damaging |
Het |
| Sprtn |
T |
C |
8: 125,627,037 (GRCm39) |
M139T |
probably damaging |
Het |
| Tas2r140 |
T |
C |
6: 40,468,352 (GRCm39) |
S61P |
possibly damaging |
Het |
| Tec |
G |
A |
5: 72,944,141 (GRCm39) |
L89F |
probably damaging |
Het |
| Trav21-dv12 |
A |
T |
14: 54,114,107 (GRCm39) |
M76L |
probably benign |
Het |
| Ttc7 |
A |
C |
17: 87,628,874 (GRCm39) |
T271P |
possibly damaging |
Het |
| Tyk2 |
G |
A |
9: 21,031,884 (GRCm39) |
T397I |
probably benign |
Het |
| Ugt1a6b |
T |
A |
1: 88,035,327 (GRCm39) |
Y222N |
possibly damaging |
Het |
| Vmn2r2 |
A |
T |
3: 64,024,601 (GRCm39) |
M660K |
probably benign |
Het |
| Vmn2r52 |
T |
A |
7: 9,905,017 (GRCm39) |
Y274F |
probably damaging |
Het |
| Wscd1 |
A |
C |
11: 71,679,768 (GRCm39) |
N547T |
possibly damaging |
Het |
| Zfp335 |
C |
A |
2: 164,744,594 (GRCm39) |
E394* |
probably null |
Het |
|
| Other mutations in Smurf2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00836:Smurf2
|
APN |
11 |
106,743,462 (GRCm39) |
missense |
probably benign |
0.17 |
|
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 |
2013-04-17 |
Incidental Mutation