Incidental Mutation 'IGL01346:Smurf2'
ID |
75074 |
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 # |
IGL01346
|
Quality Score |
|
Status
|
|
Chromosome |
11 |
Chromosomal Location |
106710892-106811541 bp(-) (GRCm39) |
Type of Mutation |
splice site |
DNA Base Change (assembly) |
T to A
at 106721741 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000129269
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000092517]
[ENSMUST00000103067]
[ENSMUST00000139297]
[ENSMUST00000167787]
|
AlphaFold |
A2A5Z6 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000092517
|
SMART Domains |
Protein: ENSMUSP00000090177 Gene: ENSMUSG00000018363
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
|
SMART Domains |
Protein: ENSMUSP00000099356 Gene: ENSMUSG00000018363
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
|
SMART Domains |
Protein: ENSMUSP00000129269 Gene: ENSMUSG00000018363
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: 42 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
3300002I08Rik |
A |
G |
2: 150,152,980 (GRCm39) |
V135A |
unknown |
Het |
Cnot4 |
A |
T |
6: 35,047,183 (GRCm39) |
I143N |
probably damaging |
Het |
Cnot6l |
A |
T |
5: 96,234,105 (GRCm39) |
M302K |
probably damaging |
Het |
Dmxl2 |
T |
C |
9: 54,322,759 (GRCm39) |
T1542A |
probably damaging |
Het |
Dnaaf9 |
A |
G |
2: 130,633,766 (GRCm39) |
|
probably benign |
Het |
Dnhd1 |
T |
C |
7: 105,363,116 (GRCm39) |
S3893P |
probably benign |
Het |
Duox2 |
A |
T |
2: 122,117,683 (GRCm39) |
|
probably benign |
Het |
Dusp1 |
T |
C |
17: 26,725,295 (GRCm39) |
N355D |
probably benign |
Het |
Fam76b |
T |
C |
9: 13,741,046 (GRCm39) |
C60R |
probably damaging |
Het |
Gnptab |
G |
A |
10: 88,272,041 (GRCm39) |
V944I |
possibly damaging |
Het |
Gys1 |
A |
G |
7: 45,091,961 (GRCm39) |
Y249C |
probably damaging |
Het |
Ift88 |
A |
T |
14: 57,681,862 (GRCm39) |
E215D |
probably damaging |
Het |
Kcnu1 |
T |
C |
8: 26,424,551 (GRCm39) |
|
probably benign |
Het |
Lmln |
C |
A |
16: 32,937,490 (GRCm39) |
N618K |
probably benign |
Het |
Lrrc75a |
T |
C |
11: 62,496,813 (GRCm39) |
T250A |
probably damaging |
Het |
Mpp4 |
A |
G |
1: 59,164,719 (GRCm39) |
S435P |
probably damaging |
Het |
Myo1c |
T |
A |
11: 75,563,076 (GRCm39) |
V1036E |
probably damaging |
Het |
Nlrp12 |
T |
G |
7: 3,289,316 (GRCm39) |
T399P |
probably damaging |
Het |
Or2y16 |
A |
G |
11: 49,335,595 (GRCm39) |
R306G |
probably benign |
Het |
Or4c118 |
A |
G |
2: 88,974,575 (GRCm39) |
F264S |
possibly damaging |
Het |
Parp8 |
A |
T |
13: 117,031,600 (GRCm39) |
C332S |
possibly damaging |
Het |
Pdcd11 |
G |
A |
19: 47,098,053 (GRCm39) |
V780I |
probably benign |
Het |
Plekha5 |
A |
G |
6: 140,480,292 (GRCm39) |
|
probably benign |
Het |
Ppt1 |
T |
A |
4: 122,737,848 (GRCm39) |
I62K |
probably damaging |
Het |
Proser3 |
T |
C |
7: 30,249,071 (GRCm39) |
N7S |
probably benign |
Het |
Ptk2b |
A |
G |
14: 66,414,567 (GRCm39) |
L311P |
possibly damaging |
Het |
Rasal2 |
T |
C |
1: 156,988,786 (GRCm39) |
N706S |
probably benign |
Het |
Ripk2 |
A |
G |
4: 16,132,775 (GRCm39) |
|
probably null |
Het |
Setx |
T |
A |
2: 29,034,821 (GRCm39) |
H435Q |
probably damaging |
Het |
Snx32 |
A |
G |
19: 5,547,764 (GRCm39) |
L182P |
possibly damaging |
Het |
Stpg2 |
A |
G |
3: 139,125,635 (GRCm39) |
|
probably benign |
Het |
Taar2 |
A |
G |
10: 23,816,997 (GRCm39) |
Y179C |
probably damaging |
Het |
Tenm2 |
G |
A |
11: 35,918,232 (GRCm39) |
R1843* |
probably null |
Het |
Tmco4 |
T |
C |
4: 138,748,260 (GRCm39) |
I280T |
probably damaging |
Het |
Tuba4a |
C |
A |
1: 75,193,921 (GRCm39) |
C46F |
probably damaging |
Het |
Ubr1 |
A |
G |
2: 120,703,603 (GRCm39) |
|
probably null |
Het |
Vldlr |
A |
T |
19: 27,217,081 (GRCm39) |
I45L |
possibly damaging |
Het |
Vmn2r120 |
C |
A |
17: 57,852,232 (GRCm39) |
G28V |
probably benign |
Het |
Vmn2r37 |
C |
A |
7: 9,209,680 (GRCm39) |
V611L |
probably benign |
Het |
Vmn2r67 |
A |
G |
7: 84,786,127 (GRCm39) |
L626P |
probably damaging |
Het |
Wdr19 |
C |
T |
5: 65,379,082 (GRCm39) |
|
probably benign |
Het |
Zfp595 |
T |
A |
13: 67,464,749 (GRCm39) |
K505* |
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 |
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 |
2013-10-07 |