Incidental Mutation 'R5850:Smco1'
| ID |
454640 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Smco1
|
| Ensembl Gene |
ENSMUSG00000046345 |
| Gene Name |
single-pass membrane protein with coiled-coil domains 1 |
| Synonyms |
2310010M20Rik |
| MMRRC Submission |
043226-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.077)
|
| Stock # |
R5850 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
16 |
| Chromosomal Location |
32090298-32093599 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 32092674 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Isoleucine
at position 115
(N115I)
|
| 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: N115I
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000090873
Gene: ENSMUSG00000046345
AA Change: N115I
| 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 |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.8%
- 20x: 93.2%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930553M12Rik |
T |
C |
4: 88,786,596 (GRCm39) |
I7M |
unknown |
Het |
| Abca8b |
C |
A |
11: 109,868,639 (GRCm39) |
G175V |
probably damaging |
Het |
| Abhd14a |
A |
C |
9: 106,317,548 (GRCm39) |
L225R |
probably damaging |
Het |
| Apbb1 |
A |
G |
7: 105,216,790 (GRCm39) |
S39P |
probably damaging |
Het |
| Apc |
T |
C |
18: 34,451,116 (GRCm39) |
S2637P |
possibly damaging |
Het |
| Apold1 |
T |
C |
6: 134,961,058 (GRCm39) |
F171L |
probably damaging |
Het |
| Ascc3 |
T |
C |
10: 50,587,049 (GRCm39) |
M967T |
probably damaging |
Het |
| Atf7ip |
T |
C |
6: 136,543,785 (GRCm39) |
|
probably null |
Het |
| Bcl2l15 |
T |
A |
3: 103,743,432 (GRCm39) |
V111D |
possibly damaging |
Het |
| Bsn |
A |
T |
9: 107,992,149 (GRCm39) |
M1201K |
probably damaging |
Het |
| Ccdc141 |
T |
A |
2: 76,859,747 (GRCm39) |
N965Y |
probably damaging |
Het |
| Cnn3 |
T |
C |
3: 121,245,577 (GRCm39) |
Y98H |
probably damaging |
Het |
| Cnot1 |
G |
A |
8: 96,460,775 (GRCm39) |
R117* |
probably null |
Het |
| Dlgap1 |
G |
A |
17: 71,094,087 (GRCm39) |
V803M |
probably damaging |
Het |
| Drd3 |
A |
C |
16: 43,638,695 (GRCm39) |
M299L |
probably benign |
Het |
| Ergic2 |
C |
A |
6: 148,084,605 (GRCm39) |
M34I |
possibly damaging |
Het |
| Ext2 |
A |
T |
2: 93,644,004 (GRCm39) |
D92E |
possibly damaging |
Het |
| Fmnl1 |
A |
G |
11: 103,086,111 (GRCm39) |
|
probably benign |
Het |
| Ganab |
C |
T |
19: 8,889,071 (GRCm39) |
R591W |
probably damaging |
Het |
| Kdsr |
A |
T |
1: 106,683,172 (GRCm39) |
|
probably null |
Het |
| Macf1 |
T |
C |
4: 123,401,099 (GRCm39) |
E813G |
probably damaging |
Het |
| Nlrc5 |
A |
G |
8: 95,247,675 (GRCm39) |
T1621A |
probably benign |
Het |
| Nmnat1 |
G |
A |
4: 149,554,124 (GRCm39) |
Q139* |
probably null |
Het |
| Os9 |
TTCCTCCTCCTCCTCCTCCTC |
TTCCTCCTCCTCCTCCTC |
10: 126,934,348 (GRCm39) |
|
probably benign |
Het |
| Oxa1l |
T |
G |
14: 54,605,121 (GRCm39) |
V11G |
possibly damaging |
Het |
| Padi1 |
A |
G |
4: 140,542,141 (GRCm39) |
Y594H |
probably benign |
Het |
| Polr1a |
T |
A |
6: 71,903,667 (GRCm39) |
F327I |
probably benign |
Het |
| Prf1 |
G |
T |
10: 61,135,972 (GRCm39) |
A83S |
probably benign |
Het |
| Ptgs2 |
A |
G |
1: 149,981,127 (GRCm39) |
E470G |
probably benign |
Het |
| Rictor |
G |
A |
15: 6,823,487 (GRCm39) |
E1555K |
probably benign |
Het |
| Skint8 |
C |
A |
4: 111,807,390 (GRCm39) |
L359M |
probably damaging |
Het |
| Slc19a2 |
A |
G |
1: 164,091,025 (GRCm39) |
I278V |
probably benign |
Het |
| Smyd3 |
G |
A |
1: 178,871,420 (GRCm39) |
L320F |
probably damaging |
Het |
| Svil |
T |
A |
18: 5,098,900 (GRCm39) |
|
probably null |
Het |
| Syne2 |
A |
G |
12: 76,144,749 (GRCm39) |
D1566G |
probably damaging |
Het |
| Tpm2 |
T |
C |
4: 43,523,296 (GRCm39) |
D20G |
probably damaging |
Het |
| Ubap1l |
A |
G |
9: 65,281,045 (GRCm39) |
Y241C |
probably damaging |
Het |
| Usp15 |
A |
G |
10: 122,960,417 (GRCm39) |
|
probably null |
Het |
| Wdr45b |
A |
G |
11: 121,221,923 (GRCm39) |
|
probably benign |
Het |
| Zc3h14 |
A |
G |
12: 98,745,414 (GRCm39) |
I468V |
probably damaging |
Het |
| Zfp703 |
C |
T |
8: 27,469,233 (GRCm39) |
P299L |
probably 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 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCCATTTAAGGAGCTTTGCCC -3'
(R):5'- CGATGATCTGAACAGCTCTAAGC -3'
Sequencing Primer
(F):5'- AAGGAGCTTTGCCCGTTTTTCATAG -3'
(R):5'- AATCCATCCTGTAGAGCCTGG -3'
|
| Posted On |
2017-02-10 |
Incidental Mutation