Incidental Mutation 'IGL03293:Smurf1'
| ID |
415985 |
| 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 # |
IGL03293
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
5 |
| Chromosomal Location |
144813305-144902657 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 144818609 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 636
(D636E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000106305
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000085684]
[ENSMUST00000100461]
[ENSMUST00000110677]
|
| AlphaFold |
Q9CUN6 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000085684
AA Change: D610E
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000082827
Gene: ENSMUSG00000038780
AA Change: D610E
| 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: D610E
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000098029
Gene: ENSMUSG00000038780
AA Change: D610E
| 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: D636E
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000106305
Gene: ENSMUSG00000038780
AA Change: D636E
| 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: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A830018L16Rik |
T |
A |
1: 11,615,375 (GRCm39) |
|
probably null |
Het |
| Akr1c14 |
C |
T |
13: 4,129,130 (GRCm39) |
R45* |
probably null |
Het |
| Ccdc62 |
T |
A |
5: 124,089,288 (GRCm39) |
L309I |
possibly damaging |
Het |
| Ccdc66 |
T |
A |
14: 27,212,628 (GRCm39) |
N565I |
probably damaging |
Het |
| Cerkl |
G |
T |
2: 79,172,719 (GRCm39) |
A318E |
probably damaging |
Het |
| Clec4n |
A |
T |
6: 123,209,105 (GRCm39) |
T57S |
probably benign |
Het |
| Cluh |
A |
G |
11: 74,556,578 (GRCm39) |
E921G |
probably benign |
Het |
| Cnbd1 |
C |
T |
4: 18,860,565 (GRCm39) |
E394K |
possibly damaging |
Het |
| Dmgdh |
G |
T |
13: 93,843,209 (GRCm39) |
M348I |
probably benign |
Het |
| Dnajc13 |
G |
A |
9: 104,051,625 (GRCm39) |
S1744L |
possibly damaging |
Het |
| Dspp |
A |
T |
5: 104,325,427 (GRCm39) |
S597C |
unknown |
Het |
| Dync1h1 |
A |
T |
12: 110,595,168 (GRCm39) |
N1360I |
probably benign |
Het |
| Eepd1 |
A |
G |
9: 25,514,708 (GRCm39) |
H505R |
possibly damaging |
Het |
| Entr1 |
A |
T |
2: 26,277,688 (GRCm39) |
|
probably benign |
Het |
| Gcnt7 |
T |
C |
2: 172,296,303 (GRCm39) |
T174A |
possibly damaging |
Het |
| Gnb1 |
T |
C |
4: 155,625,004 (GRCm39) |
|
probably benign |
Het |
| Gpam |
A |
G |
19: 55,059,448 (GRCm39) |
S800P |
probably benign |
Het |
| Gsr |
T |
C |
8: 34,185,024 (GRCm39) |
|
probably benign |
Het |
| Herc2 |
A |
G |
7: 55,804,878 (GRCm39) |
K2302R |
probably benign |
Het |
| Hipk1 |
C |
A |
3: 103,684,575 (GRCm39) |
A347S |
possibly damaging |
Het |
| Iqgap2 |
T |
C |
13: 95,867,942 (GRCm39) |
N222S |
probably damaging |
Het |
| Marco |
T |
A |
1: 120,422,524 (GRCm39) |
M46L |
probably benign |
Het |
| Morc2b |
A |
T |
17: 33,357,337 (GRCm39) |
V145D |
probably damaging |
Het |
| Mprip |
C |
A |
11: 59,586,989 (GRCm39) |
P54Q |
probably damaging |
Het |
| Ndufv2 |
A |
T |
17: 66,390,444 (GRCm39) |
C175* |
probably null |
Het |
| Or13c25 |
A |
G |
4: 52,910,835 (GRCm39) |
*320Q |
probably null |
Het |
| Or4p20 |
T |
C |
2: 88,253,571 (GRCm39) |
D266G |
probably damaging |
Het |
| Orc3 |
A |
C |
4: 34,595,210 (GRCm39) |
I195S |
probably damaging |
Het |
| Otos |
C |
A |
1: 92,572,135 (GRCm39) |
E64* |
probably null |
Het |
| Plxna2 |
T |
C |
1: 194,487,253 (GRCm39) |
S1603P |
probably damaging |
Het |
| Rlf |
A |
T |
4: 121,005,527 (GRCm39) |
I1151N |
probably benign |
Het |
| Scaper |
A |
G |
9: 55,782,107 (GRCm39) |
V283A |
probably benign |
Het |
| Slc25a43 |
A |
G |
X: 36,039,252 (GRCm39) |
T270A |
probably benign |
Het |
| Slc35a5 |
A |
G |
16: 44,964,144 (GRCm39) |
V78A |
probably damaging |
Het |
| Tchhl1 |
A |
T |
3: 93,377,582 (GRCm39) |
E95D |
probably damaging |
Het |
| Tcp10a |
A |
G |
17: 7,593,891 (GRCm39) |
E72G |
possibly damaging |
Het |
| Tmem232 |
A |
G |
17: 65,757,369 (GRCm39) |
S275P |
probably damaging |
Het |
| Ugt1a5 |
T |
C |
1: 88,094,540 (GRCm39) |
F256S |
probably damaging |
Het |
| Ulbp3 |
A |
G |
10: 3,075,699 (GRCm39) |
|
noncoding transcript |
Het |
| Vmn2r5 |
A |
G |
3: 64,398,747 (GRCm39) |
V744A |
probably benign |
Het |
| Vmn2r53 |
A |
T |
7: 12,332,349 (GRCm39) |
S433R |
probably benign |
Het |
| Vmn2r9 |
A |
T |
5: 108,995,997 (GRCm39) |
I217N |
probably damaging |
Het |
| Wdr83 |
G |
T |
8: 85,807,216 (GRCm39) |
A10E |
probably benign |
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 |
|
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 |
2016-08-02 |
Incidental Mutation