Incidental Mutation 'R6107:Smurf1'
ID |
485554 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Smurf1
|
Ensembl Gene |
ENSMUSG00000038780 |
Gene Name |
SMAD specific E3 ubiquitin protein ligase 1 |
Synonyms |
4930431E10Rik |
MMRRC Submission |
044257-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R6107 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
5 |
Chromosomal Location |
144813305-144902657 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 144831314 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 259
(V259A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000106305
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000085684]
[ENSMUST00000100461]
[ENSMUST00000110677]
|
AlphaFold |
Q9CUN6 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000085684
AA Change: V259A
PolyPhen 2
Score 0.638 (Sensitivity: 0.87; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000082827 Gene: ENSMUSG00000038780 AA Change: V259A
Domain | Start | End | E-Value | Type |
C2
|
14 |
117 |
3.03e-15 |
SMART |
low complexity region
|
185 |
193 |
N/A |
INTRINSIC |
WW
|
235 |
267 |
1.06e-7 |
SMART |
WW
|
281 |
313 |
8.66e-13 |
SMART |
HECTc
|
392 |
731 |
3.48e-160 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000100461
AA Change: V259A
PolyPhen 2
Score 0.129 (Sensitivity: 0.93; Specificity: 0.86)
|
SMART Domains |
Protein: ENSMUSP00000098029 Gene: ENSMUSG00000038780 AA Change: V259A
Domain | Start | End | E-Value | Type |
C2
|
14 |
117 |
3.03e-15 |
SMART |
low complexity region
|
185 |
193 |
N/A |
INTRINSIC |
WW
|
235 |
267 |
1.06e-7 |
SMART |
WW
|
281 |
313 |
8.66e-13 |
SMART |
HECTc
|
392 |
728 |
2.72e-162 |
SMART |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000110677
AA Change: V259A
PolyPhen 2
Score 0.750 (Sensitivity: 0.85; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000106305 Gene: ENSMUSG00000038780 AA Change: V259A
Domain | Start | End | E-Value | Type |
C2
|
14 |
117 |
3.03e-15 |
SMART |
low complexity region
|
185 |
193 |
N/A |
INTRINSIC |
WW
|
235 |
267 |
1.06e-7 |
SMART |
WW
|
307 |
339 |
8.66e-13 |
SMART |
HECTc
|
418 |
757 |
3.48e-160 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000183852
|
Predicted Effect |
unknown
Transcript: ENSMUST00000198621
AA Change: V103A
|
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.1%
- 20x: 94.5%
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a ubiquitin ligase that is specific for receptor-regulated SMAD proteins in the bone morphogenetic protein (BMP) pathway. This protein plays a key roll in the regulation of cell motility, cell signalling, and cell polarity. Alternative splicing results in multiple transcript variants encoding different isoforms.[provided by RefSeq, Dec 2010] PHENOTYPE: Mice homozygous for one knock-out allele display increased osteoblast function, bone density, and thickness of the cortical bone in long bones. Mice homozygous for a different knock-out allele are viable and only display gastrulation defects in combination with a Smurf2 knock-out allele. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 39 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acyp2 |
C |
T |
11: 30,456,354 (GRCm39) |
E98K |
possibly damaging |
Het |
Adgrl3 |
A |
G |
5: 81,836,410 (GRCm39) |
R723G |
probably damaging |
Het |
Ankrd52 |
C |
A |
10: 128,222,881 (GRCm39) |
N610K |
probably benign |
Het |
Atp2a3 |
A |
G |
11: 72,879,287 (GRCm39) |
|
probably null |
Het |
Bahcc1 |
G |
A |
11: 120,163,714 (GRCm39) |
A671T |
probably benign |
Het |
Col6a5 |
A |
T |
9: 105,769,471 (GRCm39) |
Y1764* |
probably null |
Het |
E2f8 |
A |
G |
7: 48,517,424 (GRCm39) |
V793A |
probably benign |
Het |
Erbin |
A |
G |
13: 103,970,400 (GRCm39) |
I1072T |
probably benign |
Het |
Exoc2 |
T |
C |
13: 31,060,780 (GRCm39) |
I575V |
probably benign |
Het |
Fbxw19 |
C |
T |
9: 109,324,834 (GRCm39) |
V28M |
probably damaging |
Het |
Flt1 |
G |
A |
5: 147,540,403 (GRCm39) |
T762M |
probably benign |
Het |
Ghitm |
C |
A |
14: 36,847,166 (GRCm39) |
A303S |
probably damaging |
Het |
Gm18856 |
T |
A |
13: 14,140,319 (GRCm39) |
|
probably benign |
Het |
Gm5493 |
T |
A |
17: 22,967,069 (GRCm39) |
H68Q |
possibly damaging |
Het |
Hells |
T |
G |
19: 38,942,093 (GRCm39) |
I461S |
probably benign |
Het |
Inpp4a |
T |
A |
1: 37,416,829 (GRCm39) |
I450N |
probably damaging |
Het |
Kbtbd6 |
T |
A |
14: 79,690,553 (GRCm39) |
V353D |
probably damaging |
Het |
Kifap3 |
A |
T |
1: 163,696,338 (GRCm39) |
T656S |
possibly damaging |
Het |
Med23 |
A |
T |
10: 24,781,932 (GRCm39) |
K713* |
probably null |
Het |
Miga1 |
A |
T |
3: 152,041,036 (GRCm39) |
F44I |
probably benign |
Het |
Ngrn |
A |
G |
7: 79,911,625 (GRCm39) |
E74G |
probably damaging |
Het |
Or4k40 |
T |
C |
2: 111,251,000 (GRCm39) |
S99G |
probably benign |
Het |
Patl2 |
A |
T |
2: 121,957,967 (GRCm39) |
L97Q |
probably damaging |
Het |
Pcdha1 |
A |
G |
18: 37,065,354 (GRCm39) |
I673V |
probably benign |
Het |
Pcsk1 |
A |
G |
13: 75,275,967 (GRCm39) |
T543A |
probably benign |
Het |
Plch1 |
C |
T |
3: 63,609,444 (GRCm39) |
R912H |
probably damaging |
Het |
Prl8a8 |
A |
G |
13: 27,695,447 (GRCm39) |
V100A |
possibly damaging |
Het |
Rnase10 |
T |
A |
14: 51,246,751 (GRCm39) |
V43E |
possibly damaging |
Het |
Robo1 |
A |
G |
16: 72,780,717 (GRCm39) |
S816G |
probably benign |
Het |
Slc25a34 |
C |
T |
4: 141,350,806 (GRCm39) |
V68M |
probably benign |
Het |
Slc25a48 |
A |
T |
13: 56,612,891 (GRCm39) |
E263V |
probably damaging |
Het |
Slc7a14 |
A |
G |
3: 31,311,759 (GRCm39) |
V87A |
probably damaging |
Het |
Slc8b1 |
A |
G |
5: 120,667,665 (GRCm39) |
I433V |
probably damaging |
Het |
Spag6l |
T |
A |
16: 16,599,652 (GRCm39) |
N270I |
possibly damaging |
Het |
Tas2r113 |
G |
A |
6: 132,869,977 (GRCm39) |
V2M |
probably damaging |
Het |
Tnpo2 |
T |
C |
8: 85,780,104 (GRCm39) |
V680A |
probably damaging |
Het |
Ttyh3 |
A |
C |
5: 140,619,317 (GRCm39) |
|
probably null |
Het |
Ufl1 |
A |
G |
4: 25,251,999 (GRCm39) |
S639P |
possibly damaging |
Het |
Znfx1 |
A |
T |
2: 166,879,001 (GRCm39) |
F928I |
possibly damaging |
Het |
|
Other mutations in Smurf1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00776:Smurf1
|
APN |
5 |
144,818,584 (GRCm39) |
missense |
probably benign |
0.00 |
IGL01577:Smurf1
|
APN |
5 |
144,829,998 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL02232:Smurf1
|
APN |
5 |
144,823,248 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02407:Smurf1
|
APN |
5 |
144,821,534 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02959:Smurf1
|
APN |
5 |
144,836,199 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02997:Smurf1
|
APN |
5 |
144,834,815 (GRCm39) |
nonsense |
probably null |
|
IGL03227:Smurf1
|
APN |
5 |
144,835,992 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03293:Smurf1
|
APN |
5 |
144,818,609 (GRCm39) |
missense |
probably benign |
|
R1563:Smurf1
|
UTSW |
5 |
144,819,323 (GRCm39) |
missense |
probably damaging |
1.00 |
R1652:Smurf1
|
UTSW |
5 |
144,817,474 (GRCm39) |
missense |
probably damaging |
1.00 |
R2698:Smurf1
|
UTSW |
5 |
144,820,372 (GRCm39) |
unclassified |
probably benign |
|
R3794:Smurf1
|
UTSW |
5 |
144,837,985 (GRCm39) |
critical splice donor site |
probably null |
|
R4274:Smurf1
|
UTSW |
5 |
144,833,585 (GRCm39) |
intron |
probably benign |
|
R4282:Smurf1
|
UTSW |
5 |
144,819,403 (GRCm39) |
missense |
probably damaging |
1.00 |
R4287:Smurf1
|
UTSW |
5 |
144,828,268 (GRCm39) |
missense |
probably benign |
0.00 |
R4643:Smurf1
|
UTSW |
5 |
144,816,179 (GRCm39) |
missense |
probably damaging |
1.00 |
R4723:Smurf1
|
UTSW |
5 |
144,829,994 (GRCm39) |
missense |
probably damaging |
1.00 |
R5496:Smurf1
|
UTSW |
5 |
144,819,403 (GRCm39) |
nonsense |
probably null |
|
R5702:Smurf1
|
UTSW |
5 |
144,838,021 (GRCm39) |
missense |
possibly damaging |
0.96 |
R5846:Smurf1
|
UTSW |
5 |
144,816,190 (GRCm39) |
missense |
probably damaging |
1.00 |
R6263:Smurf1
|
UTSW |
5 |
144,818,541 (GRCm39) |
missense |
probably damaging |
0.96 |
R6477:Smurf1
|
UTSW |
5 |
144,826,602 (GRCm39) |
missense |
possibly damaging |
0.49 |
R6548:Smurf1
|
UTSW |
5 |
144,836,307 (GRCm39) |
missense |
probably damaging |
1.00 |
R6584:Smurf1
|
UTSW |
5 |
144,819,333 (GRCm39) |
missense |
probably damaging |
0.97 |
R6981:Smurf1
|
UTSW |
5 |
144,823,179 (GRCm39) |
missense |
possibly damaging |
0.69 |
R7062:Smurf1
|
UTSW |
5 |
144,830,356 (GRCm39) |
splice site |
probably null |
|
R7900:Smurf1
|
UTSW |
5 |
144,836,183 (GRCm39) |
missense |
probably damaging |
1.00 |
R8271:Smurf1
|
UTSW |
5 |
144,830,897 (GRCm39) |
missense |
possibly damaging |
0.53 |
R8361:Smurf1
|
UTSW |
5 |
144,820,506 (GRCm39) |
missense |
probably damaging |
1.00 |
R8919:Smurf1
|
UTSW |
5 |
144,820,422 (GRCm39) |
nonsense |
probably null |
|
R9312:Smurf1
|
UTSW |
5 |
144,830,893 (GRCm39) |
missense |
probably damaging |
1.00 |
R9324:Smurf1
|
UTSW |
5 |
144,817,463 (GRCm39) |
missense |
probably benign |
0.02 |
R9493:Smurf1
|
UTSW |
5 |
144,833,395 (GRCm39) |
missense |
|
|
R9625:Smurf1
|
UTSW |
5 |
144,830,920 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
Predicted Primers |
PCR Primer
(F):5'- AGCCCACCATGTTTCCAGTC -3'
(R):5'- ACACCACTGCAGATGTCAG -3'
Sequencing Primer
(F):5'- ATGTTTCCAGTCCCCTCCCAAC -3'
(R):5'- GTGCATAACAAGACCTGTGTC -3'
|
Posted On |
2017-08-16 |