Incidental Mutation 'IGL01704:Smco1'
| ID |
104541 |
| 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: 0.077)
|
| Stock # |
IGL01704
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
16 |
| Chromosomal Location |
32090298-32093599 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 32092704 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 125
(V125A)
|
| 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 benign
Transcript: ENSMUST00000093183
AA Change: V125A
PolyPhen 2
Score 0.262 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000090873
Gene: ENSMUSG00000046345
AA Change: V125A
| 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: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Brsk1 |
A |
G |
7: 4,707,260 (GRCm39) |
E271G |
probably benign |
Het |
| Card9 |
A |
G |
2: 26,246,874 (GRCm39) |
F325L |
probably benign |
Het |
| Cct8l1 |
T |
A |
5: 25,722,097 (GRCm39) |
S271T |
probably benign |
Het |
| Clca3a2 |
A |
G |
3: 144,800,979 (GRCm39) |
Y125H |
probably benign |
Het |
| Csn1s2b |
T |
G |
5: 87,960,970 (GRCm39) |
S25R |
probably damaging |
Het |
| Dnmt1 |
C |
T |
9: 20,821,476 (GRCm39) |
V1227I |
probably damaging |
Het |
| Fpr1 |
G |
A |
17: 18,097,234 (GRCm39) |
R252W |
possibly damaging |
Het |
| Gm15155 |
T |
A |
X: 155,086,252 (GRCm39) |
D69E |
unknown |
Het |
| Hltf |
T |
C |
3: 20,137,910 (GRCm39) |
|
probably benign |
Het |
| Hnrnpr |
A |
G |
4: 136,056,692 (GRCm39) |
I130V |
possibly damaging |
Het |
| Klra9 |
G |
T |
6: 130,166,744 (GRCm39) |
S40* |
probably null |
Het |
| Ldoc1 |
C |
A |
X: 60,753,537 (GRCm39) |
Y74* |
probably null |
Het |
| Lias |
G |
T |
5: 65,562,673 (GRCm39) |
V318F |
probably damaging |
Het |
| Mtss1 |
A |
G |
15: 58,926,932 (GRCm39) |
V48A |
possibly damaging |
Het |
| Myo9b |
C |
T |
8: 71,812,286 (GRCm39) |
P2019L |
probably damaging |
Het |
| Ogdhl |
T |
C |
14: 32,059,588 (GRCm39) |
|
probably benign |
Het |
| Or5b97 |
T |
C |
19: 12,879,103 (GRCm39) |
I14V |
probably benign |
Het |
| Parp4 |
A |
G |
14: 56,839,783 (GRCm39) |
D497G |
probably damaging |
Het |
| Pcnx3 |
T |
C |
19: 5,717,504 (GRCm39) |
D1535G |
probably damaging |
Het |
| Pcx |
G |
T |
19: 4,671,088 (GRCm39) |
K1103N |
probably damaging |
Het |
| Pdgfd |
G |
A |
9: 6,337,327 (GRCm39) |
V220M |
probably damaging |
Het |
| Pola2 |
A |
G |
19: 5,992,047 (GRCm39) |
S542P |
probably damaging |
Het |
| Ppip5k1 |
G |
A |
2: 121,142,555 (GRCm39) |
T1278M |
possibly damaging |
Het |
| Pramel11 |
C |
T |
4: 143,622,201 (GRCm39) |
D385N |
probably benign |
Het |
| Ralgapb |
T |
C |
2: 158,262,795 (GRCm39) |
V11A |
possibly damaging |
Het |
| Rhox2f |
T |
A |
X: 36,753,634 (GRCm39) |
V124E |
probably benign |
Het |
| Rnf213 |
T |
C |
11: 119,340,702 (GRCm39) |
|
probably null |
Het |
| Slc38a10 |
T |
C |
11: 120,041,913 (GRCm39) |
|
probably benign |
Het |
| Tg |
A |
T |
15: 66,543,200 (GRCm39) |
Q38L |
probably damaging |
Het |
| Trpv5 |
A |
T |
6: 41,630,192 (GRCm39) |
S633T |
possibly damaging |
Het |
| Vmn2r97 |
T |
C |
17: 19,168,073 (GRCm39) |
F776L |
probably damaging |
Het |
| Zranb3 |
A |
C |
1: 127,895,676 (GRCm39) |
V724G |
possibly damaging |
Het |
|
| Other mutations in Smco1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01015:Smco1
|
APN |
16 |
32,092,887 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
2014-01-21 |
Incidental Mutation