Incidental Mutation 'R3915:Smco1'
| ID |
309616 |
| 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 |
040913-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.077)
|
| Stock # |
R3915 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
16 |
| Chromosomal Location |
32090298-32093599 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 32092583 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Valine
at position 85
(I85V)
|
| 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: I85V
PolyPhen 2
Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
|
| SMART Domains |
Protein: ENSMUSP00000090873
Gene: ENSMUSG00000046345
AA Change: I85V
| 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 |
|
| Meta Mutation Damage Score |
0.0742 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.6%
|
| Validation Efficiency |
98% (43/44) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700109H08Rik |
G |
A |
5: 3,627,248 (GRCm39) |
V75I |
possibly damaging |
Het |
| AA986860 |
A |
G |
1: 130,670,344 (GRCm39) |
K189E |
probably benign |
Het |
| Abcf1 |
C |
T |
17: 36,270,402 (GRCm39) |
R596H |
possibly damaging |
Het |
| Abtb3 |
C |
A |
10: 85,468,134 (GRCm39) |
H810N |
probably damaging |
Het |
| Axl |
T |
C |
7: 25,460,169 (GRCm39) |
|
probably benign |
Het |
| Birc6 |
A |
G |
17: 74,886,603 (GRCm39) |
K644E |
probably benign |
Het |
| Btnl7-ps |
T |
A |
17: 34,760,489 (GRCm39) |
|
noncoding transcript |
Het |
| Car8 |
A |
T |
4: 8,184,576 (GRCm39) |
|
probably benign |
Het |
| Ccdc62 |
C |
T |
5: 124,092,778 (GRCm39) |
R588C |
probably damaging |
Het |
| Clasp2 |
T |
G |
9: 113,737,805 (GRCm39) |
S374A |
probably damaging |
Het |
| Ctnnb1 |
A |
G |
9: 120,784,717 (GRCm39) |
H503R |
probably benign |
Het |
| Cwf19l2 |
A |
G |
9: 3,456,776 (GRCm39) |
H703R |
probably damaging |
Het |
| Efcab7 |
A |
T |
4: 99,735,375 (GRCm39) |
Q133L |
probably damaging |
Het |
| Ehmt2 |
T |
C |
17: 35,122,443 (GRCm39) |
S280P |
probably damaging |
Het |
| Eif4a3l1 |
A |
T |
6: 136,306,420 (GRCm39) |
T294S |
probably benign |
Het |
| Eomes |
A |
G |
9: 118,310,341 (GRCm39) |
M351V |
probably benign |
Het |
| Ets2 |
G |
A |
16: 95,520,037 (GRCm39) |
R421H |
probably damaging |
Het |
| Fam222b |
C |
G |
11: 78,045,756 (GRCm39) |
P439R |
probably benign |
Het |
| Gbp11 |
T |
A |
5: 105,478,978 (GRCm39) |
K153N |
probably damaging |
Het |
| Golim4 |
T |
C |
3: 75,810,634 (GRCm39) |
T174A |
probably damaging |
Het |
| Grid1 |
A |
G |
14: 35,242,684 (GRCm39) |
Y679C |
probably damaging |
Het |
| Gvin-ps5 |
A |
G |
7: 105,929,445 (GRCm39) |
S151P |
probably benign |
Het |
| Ikzf3 |
T |
C |
11: 98,381,412 (GRCm39) |
D56G |
probably damaging |
Het |
| Kcnj16 |
A |
G |
11: 110,916,382 (GRCm39) |
D348G |
probably benign |
Het |
| Kidins220 |
T |
C |
12: 25,103,957 (GRCm39) |
L1319P |
possibly damaging |
Het |
| Lrp1b |
T |
A |
2: 41,339,248 (GRCm39) |
D751V |
probably damaging |
Het |
| Macc1 |
T |
C |
12: 119,410,551 (GRCm39) |
C440R |
probably benign |
Het |
| Mbd2 |
T |
C |
18: 70,755,680 (GRCm39) |
V382A |
probably benign |
Het |
| Or13a17 |
T |
A |
7: 140,270,888 (GRCm39) |
D23E |
probably benign |
Het |
| Or51a25 |
C |
T |
7: 102,373,409 (GRCm39) |
R96H |
possibly damaging |
Het |
| Or6c68 |
G |
A |
10: 129,158,178 (GRCm39) |
A229T |
probably benign |
Het |
| Pgs1 |
T |
G |
11: 117,910,472 (GRCm39) |
S528A |
probably benign |
Het |
| Pitpnm3 |
T |
C |
11: 72,003,110 (GRCm39) |
T67A |
probably damaging |
Het |
| Pnliprp2 |
T |
G |
19: 58,748,794 (GRCm39) |
V33G |
probably damaging |
Het |
| Ptn |
T |
C |
6: 36,720,282 (GRCm39) |
N90S |
probably damaging |
Het |
| Ptprt |
A |
T |
2: 161,397,475 (GRCm39) |
|
probably benign |
Het |
| Ranbp17 |
G |
A |
11: 33,429,189 (GRCm39) |
A352V |
probably benign |
Het |
| Rasgrp1 |
G |
A |
2: 117,119,122 (GRCm39) |
S505F |
probably damaging |
Het |
| Sesn1 |
G |
A |
10: 41,770,886 (GRCm39) |
R139H |
probably benign |
Het |
| Slc17a7 |
T |
A |
7: 44,818,144 (GRCm39) |
L23Q |
probably damaging |
Het |
| Slc30a10 |
G |
T |
1: 185,187,333 (GRCm39) |
E25* |
probably null |
Het |
| Vmn1r76 |
A |
T |
7: 11,664,496 (GRCm39) |
S239R |
probably benign |
Het |
| Zc3h7a |
A |
T |
16: 10,974,074 (GRCm39) |
V237D |
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 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- ATACTTCCGAAATTCGCAGCTG -3'
(R):5'- CATCCGTCTTACGTTGGCAG -3'
Sequencing Primer
(F):5'- TTAAGGAGCTTTGCCCGT -3'
(R):5'- CCGTCTTACGTTGGCAGCATAG -3'
|
| Posted On |
2015-04-17 |
Incidental Mutation