Incidental Mutation 'R6230:Smurf2'
ID |
504630 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Smurf2
|
Ensembl Gene |
ENSMUSG00000018363 |
Gene Name |
SMAD specific E3 ubiquitin protein ligase 2 |
Synonyms |
2810411E22Rik |
MMRRC Submission |
044359-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R6230 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
11 |
Chromosomal Location |
106710892-106811541 bp(-) (GRCm39) |
Type of Mutation |
splice site (31 bp from exon) |
DNA Base Change (assembly) |
T to C
at 106759330 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 null
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 null
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 |
probably benign
Transcript: ENSMUST00000139297
|
Predicted Effect |
probably null
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 |
|
Meta Mutation Damage Score |
0.9755 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.4%
- 20x: 95.1%
|
Validation Efficiency |
100% (49/49) |
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: 49 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adnp |
T |
C |
2: 168,024,452 (GRCm39) |
T948A |
probably benign |
Het |
Arhgef12 |
T |
C |
9: 42,900,261 (GRCm39) |
I871V |
probably benign |
Het |
Atf1 |
T |
C |
15: 100,130,705 (GRCm39) |
V25A |
possibly damaging |
Het |
Atp23 |
G |
A |
10: 126,723,431 (GRCm39) |
H224Y |
probably benign |
Het |
Ccpg1 |
A |
G |
9: 72,919,638 (GRCm39) |
T418A |
probably benign |
Het |
Col27a1 |
T |
C |
4: 63,142,519 (GRCm39) |
I69T |
probably damaging |
Het |
Cspp1 |
T |
C |
1: 10,147,422 (GRCm39) |
S328P |
probably benign |
Het |
Cttnbp2nl |
C |
T |
3: 104,918,655 (GRCm39) |
E62K |
probably damaging |
Het |
Cyp2c39 |
T |
C |
19: 39,525,246 (GRCm39) |
F183S |
probably damaging |
Het |
Dync2li1 |
T |
C |
17: 84,955,078 (GRCm39) |
S246P |
probably damaging |
Het |
Ext2 |
A |
G |
2: 93,592,965 (GRCm39) |
I413T |
probably damaging |
Het |
Fam174a |
T |
C |
1: 95,241,951 (GRCm39) |
V137A |
probably damaging |
Het |
Flg |
T |
A |
3: 93,186,782 (GRCm39) |
V78E |
probably damaging |
Het |
Fn3krp |
C |
A |
11: 121,316,418 (GRCm39) |
H111N |
probably damaging |
Het |
Focad |
T |
C |
4: 88,260,441 (GRCm39) |
I899T |
unknown |
Het |
Foxq1 |
T |
C |
13: 31,743,491 (GRCm39) |
Y198H |
probably damaging |
Het |
Gm21060 |
A |
T |
19: 61,285,449 (GRCm39) |
M20K |
probably benign |
Het |
Kif16b |
A |
T |
2: 142,691,832 (GRCm39) |
N217K |
probably damaging |
Het |
Klkb1 |
A |
G |
8: 45,736,252 (GRCm39) |
Y162H |
probably benign |
Het |
Kntc1 |
T |
A |
5: 123,927,072 (GRCm39) |
|
probably null |
Het |
Madd |
C |
T |
2: 90,973,866 (GRCm39) |
|
probably null |
Het |
Mast2 |
T |
A |
4: 116,183,295 (GRCm39) |
H258L |
probably damaging |
Het |
Musk |
T |
C |
4: 58,367,576 (GRCm39) |
V598A |
probably damaging |
Het |
Nexn |
T |
A |
3: 151,943,912 (GRCm39) |
Q539L |
probably damaging |
Het |
Nf2 |
T |
C |
11: 4,758,262 (GRCm39) |
K130E |
possibly damaging |
Het |
Nlrp14 |
A |
T |
7: 106,781,024 (GRCm39) |
I74F |
probably benign |
Het |
Omg |
T |
C |
11: 79,393,784 (GRCm39) |
I25V |
probably benign |
Het |
Or56b35 |
A |
G |
7: 104,963,289 (GRCm39) |
H26R |
possibly damaging |
Het |
Or8b54 |
T |
G |
9: 38,687,073 (GRCm39) |
I174S |
possibly damaging |
Het |
Parp4 |
A |
G |
14: 56,844,990 (GRCm39) |
D627G |
probably damaging |
Het |
Pdia6 |
A |
G |
12: 17,327,214 (GRCm39) |
E126G |
probably benign |
Het |
Ppp1r2 |
T |
A |
16: 31,079,418 (GRCm39) |
D127V |
possibly damaging |
Het |
Pramel17 |
T |
A |
4: 101,694,411 (GRCm39) |
E157D |
probably damaging |
Het |
Rgs22 |
A |
G |
15: 36,100,176 (GRCm39) |
S304P |
probably benign |
Het |
Rnd2 |
C |
T |
11: 101,359,825 (GRCm39) |
L57F |
probably damaging |
Het |
Rptn |
C |
G |
3: 93,305,437 (GRCm39) |
H923Q |
possibly damaging |
Het |
Ryr2 |
T |
C |
13: 11,674,993 (GRCm39) |
Y3378C |
probably damaging |
Het |
Shoc1 |
T |
C |
4: 59,099,345 (GRCm39) |
N116D |
probably benign |
Het |
Slitrk5 |
GACTAC |
GACTACTAC |
14: 111,917,248 (GRCm39) |
|
probably benign |
Het |
Tanc1 |
T |
C |
2: 59,672,375 (GRCm39) |
F1348L |
probably damaging |
Het |
Tars3 |
A |
T |
7: 65,336,184 (GRCm39) |
|
probably null |
Het |
Tmem213 |
A |
T |
6: 38,091,551 (GRCm39) |
S52C |
probably damaging |
Het |
Ttn |
T |
C |
2: 76,749,778 (GRCm39) |
D3757G |
probably benign |
Het |
Usp16 |
C |
T |
16: 87,261,686 (GRCm39) |
P101S |
possibly damaging |
Het |
Usp19 |
G |
A |
9: 108,379,140 (GRCm39) |
M1318I |
probably damaging |
Het |
Vmn1r75 |
G |
A |
7: 11,614,966 (GRCm39) |
A233T |
probably damaging |
Het |
Vsir |
A |
T |
10: 60,193,857 (GRCm39) |
N107Y |
probably damaging |
Het |
Zfp160 |
T |
C |
17: 21,246,707 (GRCm39) |
V419A |
probably benign |
Het |
Zfp808 |
A |
T |
13: 62,320,136 (GRCm39) |
H455L |
probably benign |
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 |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- GCACTCAAGCATCCTCTCTG -3'
(R):5'- TGCCTTTTAGGTATATCGGAAAGTC -3'
Sequencing Primer
(F):5'- AAGCATCCTCTCTGATTCACCTTTAG -3'
(R):5'- GAAGCAAGGTGCTGGATT -3'
|
Posted On |
2018-02-28 |