Incidental Mutation 'IGL03136:Smurf2'
ID |
410528 |
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 # |
IGL03136
|
Quality Score |
|
Status
|
|
Chromosome |
11 |
Chromosomal Location |
106710892-106811541 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 106721874 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 527
(D527E)
|
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: D540E
PolyPhen 2
Score 0.269 (Sensitivity: 0.91; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000090177 Gene: ENSMUSG00000018363 AA Change: D540E
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: D527E
PolyPhen 2
Score 0.380 (Sensitivity: 0.90; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000099356 Gene: ENSMUSG00000018363 AA Change: D527E
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 |
noncoding transcript
Transcript: ENSMUST00000130688
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000139297
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000144027
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000167787
AA Change: D540E
PolyPhen 2
Score 0.269 (Sensitivity: 0.91; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000129269 Gene: ENSMUSG00000018363 AA Change: D540E
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: 45 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
5730522E02Rik |
A |
G |
11: 25,719,122 (GRCm39) |
L7S |
unknown |
Het |
Abr |
C |
T |
11: 76,316,121 (GRCm39) |
W571* |
probably null |
Het |
Adam18 |
A |
T |
8: 25,131,852 (GRCm39) |
C420S |
probably damaging |
Het |
Akap5 |
G |
T |
12: 76,376,649 (GRCm39) |
E694* |
probably null |
Het |
Bbs1 |
T |
C |
19: 4,941,019 (GRCm39) |
K565R |
probably benign |
Het |
Brix1 |
A |
G |
15: 10,478,852 (GRCm39) |
F189S |
probably damaging |
Het |
Cnot4 |
C |
A |
6: 35,028,176 (GRCm39) |
R480L |
probably damaging |
Het |
Ctu2 |
A |
G |
8: 123,205,940 (GRCm39) |
|
probably benign |
Het |
Dhcr7 |
A |
G |
7: 143,401,103 (GRCm39) |
H422R |
probably damaging |
Het |
Dock1 |
A |
G |
7: 134,770,118 (GRCm39) |
M1793V |
probably benign |
Het |
Dock7 |
A |
G |
4: 98,892,028 (GRCm39) |
F853L |
probably damaging |
Het |
Fkbp15 |
G |
A |
4: 62,258,466 (GRCm39) |
|
probably benign |
Het |
Ftsj3 |
C |
T |
11: 106,144,639 (GRCm39) |
D117N |
probably damaging |
Het |
Gphn |
A |
G |
12: 78,528,107 (GRCm39) |
I142V |
possibly damaging |
Het |
Hsd3b1 |
G |
A |
3: 98,760,301 (GRCm39) |
A230V |
probably damaging |
Het |
Hydin |
G |
A |
8: 111,145,156 (GRCm39) |
A836T |
probably benign |
Het |
Ift52 |
G |
T |
2: 162,867,254 (GRCm39) |
E71* |
probably null |
Het |
Ms4a14 |
T |
C |
19: 11,281,775 (GRCm39) |
D261G |
possibly damaging |
Het |
Nid1 |
G |
A |
13: 13,675,084 (GRCm39) |
V935I |
probably benign |
Het |
Nrap |
T |
C |
19: 56,330,687 (GRCm39) |
K1008E |
possibly damaging |
Het |
Nup210 |
A |
C |
6: 91,005,843 (GRCm39) |
V1340G |
probably benign |
Het |
Or2aj4 |
A |
T |
16: 19,385,103 (GRCm39) |
F177I |
probably damaging |
Het |
Or5b94 |
T |
A |
19: 12,652,331 (GRCm39) |
I254N |
probably damaging |
Het |
Or8d6 |
T |
C |
9: 39,854,332 (GRCm39) |
Y259H |
probably damaging |
Het |
Pcdhb15 |
C |
A |
18: 37,608,067 (GRCm39) |
T433N |
probably damaging |
Het |
Pdcd6ip |
T |
A |
9: 113,520,567 (GRCm39) |
N139I |
probably damaging |
Het |
Pgbd1 |
A |
G |
13: 21,617,609 (GRCm39) |
V80A |
possibly damaging |
Het |
Pigw |
A |
G |
11: 84,768,603 (GRCm39) |
I242T |
probably benign |
Het |
Prtg |
T |
G |
9: 72,764,267 (GRCm39) |
V580G |
possibly damaging |
Het |
Ptpn13 |
T |
A |
5: 103,691,329 (GRCm39) |
N1065K |
possibly damaging |
Het |
Qrich1 |
G |
A |
9: 108,422,117 (GRCm39) |
R577H |
probably damaging |
Het |
Ryr3 |
G |
A |
2: 112,506,319 (GRCm39) |
|
probably benign |
Het |
Selenoi |
T |
C |
5: 30,462,725 (GRCm39) |
Y197H |
probably damaging |
Het |
Slc47a2 |
A |
G |
11: 61,201,591 (GRCm39) |
C343R |
probably benign |
Het |
Spam1 |
C |
T |
6: 24,797,010 (GRCm39) |
|
probably benign |
Het |
Stkld1 |
T |
C |
2: 26,841,435 (GRCm39) |
V460A |
probably benign |
Het |
Tgoln1 |
G |
A |
6: 72,591,096 (GRCm39) |
R339W |
probably damaging |
Het |
Tprg1 |
T |
C |
16: 25,231,512 (GRCm39) |
|
probably benign |
Het |
Treml1 |
T |
G |
17: 48,671,879 (GRCm39) |
|
probably benign |
Het |
Ttc39b |
A |
T |
4: 83,155,517 (GRCm39) |
V497E |
probably damaging |
Het |
Vmn1r223 |
A |
G |
13: 23,433,933 (GRCm39) |
T176A |
possibly damaging |
Het |
Vmn2r75 |
A |
T |
7: 85,797,911 (GRCm39) |
I634N |
possibly damaging |
Het |
Vps13c |
A |
G |
9: 67,857,592 (GRCm39) |
E2608G |
probably damaging |
Het |
Zfp575 |
A |
G |
7: 24,285,381 (GRCm39) |
C87R |
probably damaging |
Het |
Zfp790 |
T |
A |
7: 29,529,320 (GRCm39) |
Y668* |
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 |
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 |
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 |
2016-08-02 |