Incidental Mutation 'R4287:Smurf1'
| ID |
322060 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Smurf1
|
| Ensembl Gene |
ENSMUSG00000038780 |
| Gene Name |
SMAD specific E3 ubiquitin protein ligase 1 |
| Synonyms |
4930431E10Rik |
| MMRRC Submission |
041652-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4287 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
144876495-144965847 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 144891458 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 363
(S363P)
|
| 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: S337P
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000082827
Gene: ENSMUSG00000038780
AA Change: S337P
| 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: S337P
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000098029
Gene: ENSMUSG00000038780
AA Change: S337P
| 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: S363P
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000106305
Gene: ENSMUSG00000038780
AA Change: S363P
| 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 |
unknown
Transcript: ENSMUST00000198621
AA Change: S132P
|
| Meta Mutation Damage Score |
0.0710 |
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.8%
- 10x: 97.6%
- 20x: 95.9%
|
| Validation Efficiency |
98% (40/41) |
| 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: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Anapc5 |
A |
G |
5: 122,800,601 (GRCm38) |
V362A |
probably benign |
Het |
| Ash1l |
T |
A |
3: 89,066,415 (GRCm38) |
C2594S |
probably damaging |
Het |
| Ccdc82 |
C |
A |
9: 13,253,418 (GRCm38) |
Q303K |
probably benign |
Het |
| Cog1 |
A |
G |
11: 113,654,027 (GRCm38) |
Y345C |
probably damaging |
Het |
| Fpgt |
T |
C |
3: 155,091,360 (GRCm38) |
|
probably benign |
Het |
| Glrb |
A |
T |
3: 80,845,232 (GRCm38) |
V408D |
possibly damaging |
Het |
| Gm7135 |
A |
G |
1: 97,400,398 (GRCm38) |
|
noncoding transcript |
Het |
| Il1rn |
T |
C |
2: 24,349,545 (GRCm38) |
L151P |
probably damaging |
Het |
| Itgav |
G |
T |
2: 83,724,840 (GRCm38) |
E36* |
probably null |
Het |
| Kidins220 |
G |
A |
12: 25,056,846 (GRCm38) |
E1433K |
possibly damaging |
Het |
| Klk14 |
G |
A |
7: 43,692,077 (GRCm38) |
C51Y |
probably damaging |
Het |
| Klra3 |
A |
G |
6: 130,334,302 (GRCm38) |
C39R |
probably benign |
Het |
| Lce1i |
A |
G |
3: 92,777,435 (GRCm38) |
S145P |
unknown |
Het |
| Memo1 |
T |
C |
17: 74,255,298 (GRCm38) |
|
probably null |
Het |
| Mpp3 |
G |
A |
11: 102,023,463 (GRCm38) |
A102V |
probably damaging |
Het |
| Mug2 |
T |
A |
6: 122,063,673 (GRCm38) |
D727E |
probably benign |
Het |
| Ndufb8 |
T |
C |
19: 44,552,691 (GRCm38) |
I107V |
probably benign |
Het |
| Olfr186 |
A |
T |
16: 59,027,613 (GRCm38) |
M98K |
probably benign |
Het |
| Pnn |
C |
T |
12: 59,072,170 (GRCm38) |
T513I |
possibly damaging |
Het |
| Ric8a |
A |
G |
7: 140,861,422 (GRCm38) |
Y210C |
probably damaging |
Het |
| Ripor2 |
G |
A |
13: 24,725,009 (GRCm38) |
V1037M |
probably damaging |
Het |
| Rreb1 |
A |
T |
13: 37,931,931 (GRCm38) |
T1089S |
probably benign |
Het |
| Rrs1 |
C |
T |
1: 9,546,215 (GRCm38) |
S231L |
probably damaging |
Het |
| Rrs1 |
C |
T |
1: 9,546,223 (GRCm38) |
R234C |
possibly damaging |
Het |
| Sec23ip |
A |
G |
7: 128,777,333 (GRCm38) |
D838G |
probably benign |
Het |
| Setbp1 |
T |
C |
18: 78,859,061 (GRCm38) |
I464V |
probably benign |
Het |
| Slc25a51 |
C |
T |
4: 45,399,768 (GRCm38) |
V141M |
probably benign |
Het |
| Slc41a3 |
A |
T |
6: 90,640,922 (GRCm38) |
H310L |
probably benign |
Het |
| Tln1 |
C |
T |
4: 43,543,509 (GRCm38) |
R1269Q |
probably benign |
Het |
| Tmed3 |
A |
G |
9: 89,704,898 (GRCm38) |
S10P |
probably benign |
Het |
| Tomm70a |
T |
G |
16: 57,140,622 (GRCm38) |
Y313D |
probably damaging |
Het |
| Umodl1 |
A |
G |
17: 30,988,065 (GRCm38) |
E810G |
probably benign |
Het |
| Unc5c |
T |
C |
3: 141,714,674 (GRCm38) |
I52T |
probably damaging |
Het |
| Unc5d |
T |
A |
8: 28,719,796 (GRCm38) |
Y432F |
probably benign |
Het |
| Vmn2r97 |
A |
T |
17: 18,948,075 (GRCm38) |
|
probably benign |
Het |
| Zfp629 |
T |
C |
7: 127,611,938 (GRCm38) |
Y233C |
probably damaging |
Het |
| Zfp986 |
T |
C |
4: 145,892,518 (GRCm38) |
|
probably null |
Het |
|
| Other mutations in Smurf1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00776:Smurf1
|
APN |
5 |
144,881,774 (GRCm38) |
missense |
probably benign |
0.00 |
|
IGL01577:Smurf1
|
APN |
5 |
144,893,188 (GRCm38) |
missense |
probably damaging |
0.99 |
|
IGL02232:Smurf1
|
APN |
5 |
144,886,438 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02407:Smurf1
|
APN |
5 |
144,884,724 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02959:Smurf1
|
APN |
5 |
144,899,389 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02997:Smurf1
|
APN |
5 |
144,898,005 (GRCm38) |
nonsense |
probably null |
|
|
IGL03227:Smurf1
|
APN |
5 |
144,899,182 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL03293:Smurf1
|
APN |
5 |
144,881,799 (GRCm38) |
missense |
probably benign |
|
|
R1563:Smurf1
|
UTSW |
5 |
144,882,513 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1652:Smurf1
|
UTSW |
5 |
144,880,664 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2698:Smurf1
|
UTSW |
5 |
144,883,562 (GRCm38) |
unclassified |
probably benign |
|
|
R3794:Smurf1
|
UTSW |
5 |
144,901,175 (GRCm38) |
critical splice donor site |
probably null |
|
|
R4274:Smurf1
|
UTSW |
5 |
144,896,775 (GRCm38) |
intron |
probably benign |
|
|
R4282:Smurf1
|
UTSW |
5 |
144,882,593 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4643:Smurf1
|
UTSW |
5 |
144,879,369 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4723:Smurf1
|
UTSW |
5 |
144,893,184 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5496:Smurf1
|
UTSW |
5 |
144,882,593 (GRCm38) |
nonsense |
probably null |
|
|
R5702:Smurf1
|
UTSW |
5 |
144,901,211 (GRCm38) |
missense |
possibly damaging |
0.96 |
|
R5846:Smurf1
|
UTSW |
5 |
144,879,380 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6107:Smurf1
|
UTSW |
5 |
144,894,504 (GRCm38) |
missense |
possibly damaging |
0.75 |
|
R6263:Smurf1
|
UTSW |
5 |
144,881,731 (GRCm38) |
missense |
probably damaging |
0.96 |
|
R6477:Smurf1
|
UTSW |
5 |
144,889,792 (GRCm38) |
missense |
possibly damaging |
0.49 |
|
R6548:Smurf1
|
UTSW |
5 |
144,899,497 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6584:Smurf1
|
UTSW |
5 |
144,882,523 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R6981:Smurf1
|
UTSW |
5 |
144,886,369 (GRCm38) |
missense |
possibly damaging |
0.69 |
|
R7062:Smurf1
|
UTSW |
5 |
144,893,546 (GRCm38) |
splice site |
probably null |
|
|
R7900:Smurf1
|
UTSW |
5 |
144,899,373 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8271:Smurf1
|
UTSW |
5 |
144,894,087 (GRCm38) |
missense |
possibly damaging |
0.53 |
|
R8361:Smurf1
|
UTSW |
5 |
144,883,696 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8919:Smurf1
|
UTSW |
5 |
144,883,612 (GRCm38) |
nonsense |
probably null |
|
|
R9312:Smurf1
|
UTSW |
5 |
144,894,083 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9324:Smurf1
|
UTSW |
5 |
144,880,653 (GRCm38) |
missense |
probably benign |
0.02 |
|
R9493:Smurf1
|
UTSW |
5 |
144,896,585 (GRCm38) |
missense |
|
|
|
R9625:Smurf1
|
UTSW |
5 |
144,894,110 (GRCm38) |
missense |
possibly damaging |
0.53 |
|
| Predicted Primers |
PCR Primer
(F):5'- AAGCAGAGTCCACCAAGATG -3'
(R):5'- TTGTCACTCATCTGAGCAGCC -3'
Sequencing Primer
(F):5'- TAACACAAACTTCCTTGCGTG -3'
(R):5'- ATCTGAGCAGCCCTGTCGTTAG -3'
|
| Posted On |
2015-06-20 |
Incidental Mutation