Incidental Mutation 'R8361:Smurf1'
| ID |
645960 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Smurf1
|
| Ensembl Gene |
ENSMUSG00000038780 |
| Gene Name |
SMAD specific E3 ubiquitin protein ligase 1 |
| Synonyms |
4930431E10Rik |
| MMRRC Submission |
067735-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8361 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
144813305-144902657 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 144820506 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Phenylalanine
at position 521
(I521F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000082827
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000085684]
[ENSMUST00000100461]
[ENSMUST00000110677]
|
| AlphaFold |
Q9CUN6 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000085684
AA Change: I521F
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000082827
Gene: ENSMUSG00000038780
AA Change: I521F
| 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 damaging
Transcript: ENSMUST00000100461
AA Change: I521F
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000098029
Gene: ENSMUSG00000038780
AA Change: I521F
| 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 |
probably damaging
Transcript: ENSMUST00000110677
AA Change: I547F
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000106305
Gene: ENSMUSG00000038780
AA Change: I547F
| 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 |
probably benign
Transcript: ENSMUST00000198621
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
| 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: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700109H08Rik |
A |
G |
5: 3,632,153 (GRCm39) |
N161S |
possibly damaging |
Het |
| Alg2 |
T |
C |
4: 47,471,848 (GRCm39) |
Y320C |
probably damaging |
Het |
| Aox4 |
A |
T |
1: 58,279,998 (GRCm39) |
E538V |
probably benign |
Het |
| Carmil1 |
A |
C |
13: 24,251,113 (GRCm39) |
|
probably null |
Het |
| Chrd |
T |
C |
16: 20,557,487 (GRCm39) |
F702S |
possibly damaging |
Het |
| Dhx36 |
A |
T |
3: 62,388,221 (GRCm39) |
|
probably null |
Het |
| Dnah5 |
G |
T |
15: 28,331,956 (GRCm39) |
V2181L |
probably damaging |
Het |
| Dnajc11 |
C |
A |
4: 152,055,368 (GRCm39) |
R229S |
probably damaging |
Het |
| Eml3 |
A |
G |
19: 8,914,801 (GRCm39) |
N579D |
possibly damaging |
Het |
| Fam163b |
G |
A |
2: 27,002,650 (GRCm39) |
R116C |
probably benign |
Het |
| Fbxw2 |
A |
G |
2: 34,697,426 (GRCm39) |
C314R |
possibly damaging |
Het |
| Gm4847 |
T |
A |
1: 166,469,839 (GRCm39) |
H78L |
possibly damaging |
Het |
| Gtf2h3 |
T |
C |
5: 124,733,731 (GRCm39) |
V268A |
probably damaging |
Het |
| Hmbox1 |
T |
C |
14: 65,134,289 (GRCm39) |
S104G |
possibly damaging |
Het |
| Ighv1-36 |
T |
A |
12: 114,843,627 (GRCm39) |
S78C |
probably damaging |
Het |
| Lrriq3 |
G |
A |
3: 154,806,855 (GRCm39) |
W168* |
probably null |
Het |
| Mycbp2 |
A |
G |
14: 103,376,250 (GRCm39) |
F3981S |
probably damaging |
Het |
| Or10k2 |
A |
G |
8: 84,268,715 (GRCm39) |
H314R |
possibly damaging |
Het |
| Pias1 |
T |
C |
9: 62,826,668 (GRCm39) |
T265A |
possibly damaging |
Het |
| Rxfp3 |
C |
A |
15: 11,036,784 (GRCm39) |
R196L |
probably benign |
Het |
| Ryr3 |
A |
G |
2: 112,483,475 (GRCm39) |
S4121P |
probably damaging |
Het |
| Safb2 |
T |
C |
17: 56,890,061 (GRCm39) |
E61G |
probably damaging |
Het |
| Sestd1 |
A |
T |
2: 77,017,572 (GRCm39) |
M665K |
probably benign |
Het |
| Slc3a1 |
C |
T |
17: 85,344,640 (GRCm39) |
R269* |
probably null |
Het |
| Spink5 |
G |
T |
18: 44,122,529 (GRCm39) |
L331F |
probably damaging |
Het |
| Stt3b |
A |
G |
9: 115,083,988 (GRCm39) |
I396T |
probably damaging |
Het |
| Uso1 |
A |
G |
5: 92,337,121 (GRCm39) |
D635G |
probably null |
Het |
| Usp5 |
C |
T |
6: 124,801,948 (GRCm39) |
G102D |
probably damaging |
Het |
| Zfp616 |
A |
G |
11: 73,975,476 (GRCm39) |
R582G |
probably damaging |
Het |
| Zfp654 |
T |
C |
16: 64,612,220 (GRCm39) |
H222R |
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 |
|
|
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 |
|
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 |
|
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'- GCTGTCACATGGAGTCTCTAC -3'
(R):5'- TGCAGTTCCCTGAGCAATTAG -3'
Sequencing Primer
(F):5'- GAGTCTCTACTCCAGGTGCC -3'
(R):5'- GAGCAATTAGGTTTCATGTCCC -3'
|
| Posted On |
2020-09-02 |
Incidental Mutation