Incidental Mutation 'IGL00776:Smurf1'
| ID |
14163 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Smurf1
|
| Ensembl Gene |
ENSMUSG00000038780 |
| Gene Name |
SMAD specific E3 ubiquitin protein ligase 1 |
| Synonyms |
4930431E10Rik |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL00776
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
5 |
| Chromosomal Location |
144813305-144902657 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 144818584 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 619
(S619P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000098029
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000085684]
[ENSMUST00000100461]
[ENSMUST00000110677]
|
| AlphaFold |
Q9CUN6 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000085684
AA Change: S619P
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000082827
Gene: ENSMUSG00000038780
AA Change: S619P
| 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: S619P
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000098029
Gene: ENSMUSG00000038780
AA Change: S619P
| 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 benign
Transcript: ENSMUST00000110677
AA Change: S645P
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000106305
Gene: ENSMUSG00000038780
AA Change: S645P
| 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: ENSMUST00000126822
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000198621
|
| Coding Region Coverage |
|
| 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: 15 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4921504E06Rik |
A |
T |
2: 19,545,182 (GRCm39) |
D90E |
probably benign |
Het |
| Abcb5 |
T |
C |
12: 118,883,589 (GRCm39) |
S560G |
probably damaging |
Het |
| Ankrd24 |
A |
C |
10: 81,478,979 (GRCm39) |
|
probably benign |
Het |
| Atp8a1 |
A |
T |
5: 67,906,486 (GRCm39) |
I461N |
probably benign |
Het |
| Eif4a1 |
G |
A |
11: 69,559,922 (GRCm39) |
L166F |
probably damaging |
Het |
| Herc1 |
T |
A |
9: 66,328,320 (GRCm39) |
H1542Q |
probably benign |
Het |
| Itih4 |
G |
A |
14: 30,611,561 (GRCm39) |
V95I |
probably benign |
Het |
| Kcnh7 |
A |
G |
2: 62,680,720 (GRCm39) |
I289T |
probably benign |
Het |
| Krt86 |
C |
T |
15: 101,371,741 (GRCm39) |
H104Y |
probably benign |
Het |
| Mterf1a |
A |
C |
5: 3,941,809 (GRCm39) |
W20G |
possibly damaging |
Het |
| Slc24a5 |
T |
C |
2: 124,922,809 (GRCm39) |
S161P |
probably damaging |
Het |
| Slc25a21 |
G |
A |
12: 56,816,990 (GRCm39) |
T99I |
probably benign |
Het |
| Sorbs1 |
C |
T |
19: 40,332,795 (GRCm39) |
|
probably null |
Het |
| Strn4 |
C |
T |
7: 16,564,377 (GRCm39) |
R185C |
probably damaging |
Het |
| Tctn3 |
A |
G |
19: 40,585,865 (GRCm39) |
F560S |
probably damaging |
Het |
|
| Other mutations in Smurf1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
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 |
|
| Posted On |
2012-12-06 |
Incidental Mutation