Incidental Mutation 'IGL01015:Smco1'
| ID |
54024 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Smco1
|
| Ensembl Gene |
ENSMUSG00000046345 |
| Gene Name |
single-pass membrane protein with coiled-coil domains 1 |
| Synonyms |
2310010M20Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.061)
|
| Stock # |
IGL01015
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
16 |
| Chromosomal Location |
32090298-32093599 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 32092887 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 186
(V186A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000090873
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000014218]
[ENSMUST00000093183]
[ENSMUST00000155649]
[ENSMUST00000171474]
|
| AlphaFold |
Q8CEZ1 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000014218
|
| SMART Domains |
Protein: ENSMUSP00000014218
Gene: ENSMUSG00000014074
| Domain | Start | End | E-Value | Type |
|---|
|
RING
|
16 |
54 |
8.23e-6 |
SMART |
|
coiled coil region
|
114 |
184 |
N/A |
INTRINSIC |
|
low complexity region
|
208 |
221 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000093183
AA Change: V186A
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000090873
Gene: ENSMUSG00000046345
AA Change: V186A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF4547
|
19 |
214 |
5e-120 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000155649
|
| SMART Domains |
Protein: ENSMUSP00000115807
Gene: ENSMUSG00000014074
| Domain | Start | End | E-Value | Type |
|---|
|
RING
|
16 |
54 |
8.23e-6 |
SMART |
|
coiled coil region
|
114 |
183 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000171474
|
| SMART Domains |
Protein: ENSMUSP00000126484
Gene: ENSMUSG00000014074
| Domain | Start | End | E-Value | Type |
|---|
|
RING
|
18 |
56 |
8.23e-6 |
SMART |
|
coiled coil region
|
116 |
186 |
N/A |
INTRINSIC |
|
low complexity region
|
210 |
223 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ano4 |
A |
G |
10: 88,870,961 (GRCm39) |
Y238H |
probably damaging |
Het |
| Apol7a |
T |
C |
15: 77,274,055 (GRCm39) |
|
probably benign |
Het |
| Cacna1d |
A |
T |
14: 29,773,699 (GRCm39) |
|
probably benign |
Het |
| Col12a1 |
A |
G |
9: 79,541,023 (GRCm39) |
V2368A |
probably damaging |
Het |
| Creb3l4 |
A |
G |
3: 90,150,138 (GRCm39) |
M1T |
probably null |
Het |
| Dpys |
T |
C |
15: 39,710,045 (GRCm39) |
D128G |
probably damaging |
Het |
| Ero1b |
A |
G |
13: 12,616,623 (GRCm39) |
|
probably null |
Het |
| Fcgbpl1 |
T |
C |
7: 27,854,743 (GRCm39) |
C1790R |
probably damaging |
Het |
| Fcgr4 |
A |
G |
1: 170,853,358 (GRCm39) |
S188G |
possibly damaging |
Het |
| Fry |
A |
G |
5: 150,346,252 (GRCm39) |
D1587G |
probably benign |
Het |
| Gm43638 |
T |
A |
5: 87,634,473 (GRCm39) |
R45* |
probably null |
Het |
| Gm7647 |
T |
A |
5: 95,111,746 (GRCm39) |
C152S |
probably benign |
Het |
| Golga3 |
T |
G |
5: 110,335,583 (GRCm39) |
M299R |
probably benign |
Het |
| Iqub |
A |
T |
6: 24,501,005 (GRCm39) |
|
probably benign |
Het |
| Irak3 |
A |
T |
10: 119,978,695 (GRCm39) |
Y493* |
probably null |
Het |
| Jakmip1 |
G |
T |
5: 37,242,750 (GRCm39) |
E13* |
probably null |
Het |
| Morc3 |
G |
A |
16: 93,659,534 (GRCm39) |
C446Y |
probably damaging |
Het |
| Mroh2b |
G |
A |
15: 4,971,024 (GRCm39) |
D1010N |
probably damaging |
Het |
| Or14c44 |
A |
G |
7: 86,061,998 (GRCm39) |
T184A |
probably damaging |
Het |
| Or2y16 |
T |
A |
11: 49,335,201 (GRCm39) |
N174K |
probably damaging |
Het |
| Or5m9 |
A |
T |
2: 85,876,996 (GRCm39) |
M57L |
possibly damaging |
Het |
| Pkhd1 |
G |
A |
1: 20,593,482 (GRCm39) |
H1544Y |
possibly damaging |
Het |
| Rps2-ps10 |
C |
T |
18: 61,392,896 (GRCm39) |
|
probably benign |
Het |
| Snx1 |
C |
T |
9: 66,001,713 (GRCm39) |
E314K |
possibly damaging |
Het |
| Timd2 |
T |
C |
11: 46,567,170 (GRCm39) |
Y255C |
probably benign |
Het |
| Tnc |
A |
T |
4: 63,935,571 (GRCm39) |
I455K |
probably benign |
Het |
| Tsc22d1 |
A |
G |
14: 76,656,181 (GRCm39) |
I31V |
possibly damaging |
Het |
| Tyk2 |
A |
G |
9: 21,031,996 (GRCm39) |
S360P |
probably benign |
Het |
| Uroc1 |
G |
T |
6: 90,335,883 (GRCm39) |
|
probably benign |
Het |
| Vmn1r122 |
A |
T |
7: 20,867,761 (GRCm39) |
V98E |
probably damaging |
Het |
|
| Other mutations in Smco1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01704:Smco1
|
APN |
16 |
32,092,704 (GRCm39) |
missense |
probably benign |
0.26 |
|
IGL02000:Smco1
|
APN |
16 |
32,092,751 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R0217:Smco1
|
UTSW |
16 |
32,092,599 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R0602:Smco1
|
UTSW |
16 |
32,092,062 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1794:Smco1
|
UTSW |
16 |
32,092,950 (GRCm39) |
missense |
probably benign |
0.03 |
|
R1913:Smco1
|
UTSW |
16 |
32,092,700 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1996:Smco1
|
UTSW |
16 |
32,092,730 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1998:Smco1
|
UTSW |
16 |
32,092,658 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3801:Smco1
|
UTSW |
16 |
32,092,716 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3802:Smco1
|
UTSW |
16 |
32,092,716 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3915:Smco1
|
UTSW |
16 |
32,092,583 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5194:Smco1
|
UTSW |
16 |
32,092,592 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5464:Smco1
|
UTSW |
16 |
32,092,694 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5850:Smco1
|
UTSW |
16 |
32,092,674 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6221:Smco1
|
UTSW |
16 |
32,092,023 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6267:Smco1
|
UTSW |
16 |
32,092,832 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6454:Smco1
|
UTSW |
16 |
32,092,041 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R7068:Smco1
|
UTSW |
16 |
32,092,929 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7196:Smco1
|
UTSW |
16 |
32,092,620 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7227:Smco1
|
UTSW |
16 |
32,092,833 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R7517:Smco1
|
UTSW |
16 |
32,092,785 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R7587:Smco1
|
UTSW |
16 |
32,092,541 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7923:Smco1
|
UTSW |
16 |
32,092,865 (GRCm39) |
missense |
possibly damaging |
0.58 |
|
R8247:Smco1
|
UTSW |
16 |
32,092,557 (GRCm39) |
missense |
probably benign |
0.06 |
|
R8684:Smco1
|
UTSW |
16 |
32,092,841 (GRCm39) |
missense |
probably damaging |
0.96 |
|
Z1088:Smco1
|
UTSW |
16 |
32,092,033 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2013-06-28 |
Incidental Mutation