Incidental Mutation 'R5702:Smurf1'
| ID |
451737 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Smurf1
|
| Ensembl Gene |
ENSMUSG00000038780 |
| Gene Name |
SMAD specific E3 ubiquitin protein ligase 1 |
| Synonyms |
4930431E10Rik |
| MMRRC Submission |
043182-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5702 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
144813305-144902657 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 144838021 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 57
(T57A)
|
| 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: T57A
PolyPhen 2
Score 0.906 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000082827
Gene: ENSMUSG00000038780
AA Change: T57A
| 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 |
possibly damaging
Transcript: ENSMUST00000100461
AA Change: T57A
PolyPhen 2
Score 0.635 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000098029
Gene: ENSMUSG00000038780
AA Change: T57A
| 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: T57A
PolyPhen 2
Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000106305
Gene: ENSMUSG00000038780
AA Change: T57A
| 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 |
probably benign
Transcript: ENSMUST00000198621
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.6%
|
| 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: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb1a |
G |
A |
5: 8,787,752 (GRCm39) |
S1018N |
probably benign |
Het |
| Adat1 |
G |
T |
8: 112,704,704 (GRCm39) |
T414K |
probably benign |
Het |
| Ahnak |
G |
T |
19: 8,979,204 (GRCm39) |
V163L |
probably damaging |
Het |
| Atf6b |
T |
C |
17: 34,869,978 (GRCm39) |
I288T |
possibly damaging |
Het |
| Blm |
A |
T |
7: 80,108,675 (GRCm39) |
V1323E |
probably benign |
Het |
| Brap |
T |
A |
5: 121,803,206 (GRCm39) |
L118Q |
probably damaging |
Het |
| C1qbp |
G |
A |
11: 70,869,570 (GRCm39) |
T171I |
probably benign |
Het |
| Ccdc136 |
C |
A |
6: 29,412,981 (GRCm39) |
H455Q |
probably damaging |
Het |
| Chd3 |
A |
T |
11: 69,252,261 (GRCm39) |
V47D |
possibly damaging |
Het |
| Cnot10 |
A |
C |
9: 114,458,078 (GRCm39) |
F143V |
probably damaging |
Het |
| Cnot8 |
T |
C |
11: 58,004,873 (GRCm39) |
S191P |
possibly damaging |
Het |
| Coro2b |
G |
A |
9: 62,333,859 (GRCm39) |
T345I |
probably damaging |
Het |
| Dennd1b |
T |
C |
1: 139,061,413 (GRCm39) |
I365T |
probably damaging |
Het |
| Dnah11 |
C |
A |
12: 118,077,642 (GRCm39) |
A1284S |
probably benign |
Het |
| Dock4 |
G |
A |
12: 40,787,490 (GRCm39) |
D802N |
probably benign |
Het |
| Dsg1a |
T |
C |
18: 20,469,922 (GRCm39) |
|
probably null |
Het |
| Elp3 |
C |
T |
14: 65,815,431 (GRCm39) |
R187Q |
probably damaging |
Het |
| Ercc3 |
G |
A |
18: 32,387,206 (GRCm39) |
R473Q |
probably damaging |
Het |
| F5 |
G |
A |
1: 164,022,116 (GRCm39) |
W1530* |
probably null |
Het |
| Fmnl1 |
T |
C |
11: 103,076,491 (GRCm39) |
I219T |
probably damaging |
Het |
| Gemin4 |
G |
A |
11: 76,101,663 (GRCm39) |
R1033C |
probably benign |
Het |
| Gm2381 |
T |
A |
7: 42,471,820 (GRCm39) |
I20F |
probably benign |
Het |
| Hmgcll1 |
A |
G |
9: 75,991,672 (GRCm39) |
M129V |
possibly damaging |
Het |
| Ltbp3 |
G |
T |
19: 5,797,849 (GRCm39) |
R496L |
probably benign |
Het |
| Mettl13 |
A |
G |
1: 162,373,549 (GRCm39) |
V234A |
probably benign |
Het |
| Minar1 |
G |
A |
9: 89,473,208 (GRCm39) |
A901V |
probably benign |
Het |
| Or1j4 |
A |
G |
2: 36,740,946 (GRCm39) |
D296G |
probably damaging |
Het |
| Pde7a |
A |
T |
3: 19,295,371 (GRCm39) |
C146* |
probably null |
Het |
| Pla2g4e |
T |
A |
2: 120,018,992 (GRCm39) |
N202Y |
possibly damaging |
Het |
| Plk5 |
G |
A |
10: 80,196,401 (GRCm39) |
|
probably null |
Het |
| Plscr1l1 |
G |
A |
9: 92,225,741 (GRCm39) |
|
probably null |
Het |
| Ptpn7 |
A |
G |
1: 135,061,582 (GRCm39) |
T15A |
probably benign |
Het |
| Rrn3 |
T |
A |
16: 13,631,130 (GRCm39) |
Y655* |
probably null |
Het |
| Scarb2 |
C |
T |
5: 92,599,255 (GRCm39) |
G355D |
probably damaging |
Het |
| Scd2 |
G |
A |
19: 44,286,502 (GRCm39) |
A111T |
possibly damaging |
Het |
| Smim8 |
TTTAATGAAGAGCT |
TT |
4: 34,771,261 (GRCm39) |
|
probably benign |
Het |
| Spire2 |
C |
T |
8: 124,073,402 (GRCm39) |
P94S |
probably benign |
Het |
| Tex2 |
T |
C |
11: 106,435,221 (GRCm39) |
H237R |
possibly damaging |
Het |
| Vmn2r109 |
T |
C |
17: 20,774,407 (GRCm39) |
D316G |
probably benign |
Het |
| Zfp830 |
T |
A |
11: 82,655,800 (GRCm39) |
F201L |
possibly damaging |
Het |
| Zic1 |
A |
G |
9: 91,246,133 (GRCm39) |
F313S |
probably 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 |
|
|
R5846:Smurf1
|
UTSW |
5 |
144,816,190 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6107:Smurf1
|
UTSW |
5 |
144,831,314 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
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'- CAGGCCATGTTCGCTTTGTC -3'
(R):5'- TCAGACCTCTCTTTGCTAATGAAG -3'
Sequencing Primer
(F):5'- GGCCATGTTCGCTTTGTCAAGTC -3'
(R):5'- TGTGCAAGCCTGATCCCAAG -3'
|
| Posted On |
2017-01-03 |
Incidental Mutation