Incidental Mutation 'R4348:Smco3'
| ID |
328400 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Smco3
|
| Ensembl Gene |
ENSMUSG00000043298 |
| Gene Name |
single-pass membrane protein with coiled-coil domains 3 |
| Synonyms |
C030030A07Rik |
| MMRRC Submission |
041103-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.110)
|
| Stock # |
R4348 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
6 |
| Chromosomal Location |
136806929-136812448 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 136808692 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Serine
at position 61
(T61S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000144838
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000052702]
[ENSMUST00000068293]
[ENSMUST00000111894]
[ENSMUST00000116514]
[ENSMUST00000146348]
[ENSMUST00000203468]
[ENSMUST00000203499]
[ENSMUST00000204272]
[ENSMUST00000204086]
|
| AlphaFold |
Q8BQM7 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000052702
|
| SMART Domains |
Protein: ENSMUSP00000049512
Gene: ENSMUSG00000047515
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF4533
|
8 |
235 |
1.3e-64 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000068293
AA Change: T61S
PolyPhen 2
Score 0.807 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000066235
Gene: ENSMUSG00000043298
AA Change: T61S
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF4533
|
14 |
221 |
1.9e-83 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000111894
AA Change: T61S
PolyPhen 2
Score 0.807 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000107525
Gene: ENSMUSG00000043298
AA Change: T61S
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF4533
|
14 |
221 |
2.4e-65 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000116514
|
| SMART Domains |
Protein: ENSMUSP00000112213
Gene: ENSMUSG00000030216
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Wbp11
|
12 |
94 |
1e-26 |
PFAM |
|
low complexity region
|
191 |
209 |
N/A |
INTRINSIC |
|
low complexity region
|
263 |
284 |
N/A |
INTRINSIC |
|
low complexity region
|
344 |
367 |
N/A |
INTRINSIC |
|
low complexity region
|
380 |
532 |
N/A |
INTRINSIC |
|
low complexity region
|
549 |
565 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000141598
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000146348
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000151333
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000203468
AA Change: T61S
PolyPhen 2
Score 0.807 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000144838
Gene: ENSMUSG00000043298
AA Change: T61S
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF4533
|
14 |
221 |
2.4e-65 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000203499
|
| SMART Domains |
Protein: ENSMUSP00000145015
Gene: ENSMUSG00000047515
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF4533
|
8 |
235 |
1.6e-97 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000205058
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000204272
|
| SMART Domains |
Protein: ENSMUSP00000145501
Gene: ENSMUSG00000030216
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Wbp11
|
12 |
94 |
3.8e-24 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000204086
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.3%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A2ml1 |
C |
T |
6: 128,557,349 (GRCm39) |
A115T |
probably benign |
Het |
| Aass |
A |
G |
6: 23,113,738 (GRCm39) |
F235L |
probably benign |
Het |
| Adamts1 |
T |
A |
16: 85,599,234 (GRCm39) |
D122V |
probably benign |
Het |
| Adcy6 |
A |
T |
15: 98,502,041 (GRCm39) |
V191E |
probably benign |
Het |
| Cngb3 |
G |
A |
4: 19,396,688 (GRCm39) |
R347Q |
probably damaging |
Het |
| Cntnap4 |
T |
A |
8: 113,480,554 (GRCm39) |
C334S |
probably damaging |
Het |
| D7Ertd443e |
ACCTAGGAGGTCCT |
ACCT |
7: 133,950,682 (GRCm39) |
|
probably null |
Het |
| Dnah12 |
T |
A |
14: 26,536,498 (GRCm39) |
M2138K |
possibly damaging |
Het |
| Ebf2 |
T |
C |
14: 67,476,871 (GRCm39) |
I138T |
probably damaging |
Het |
| Ect2l |
A |
G |
10: 18,012,736 (GRCm39) |
S784P |
probably damaging |
Het |
| Emilin2 |
T |
C |
17: 71,587,726 (GRCm39) |
M129V |
probably benign |
Het |
| Enah |
A |
T |
1: 181,749,985 (GRCm39) |
S266T |
possibly damaging |
Het |
| Fhip1b |
A |
G |
7: 105,034,556 (GRCm39) |
V422A |
probably damaging |
Het |
| Garem2 |
G |
A |
5: 30,310,366 (GRCm39) |
R26H |
possibly damaging |
Het |
| Gfy |
T |
C |
7: 44,827,040 (GRCm39) |
E352G |
probably benign |
Het |
| Gpatch11 |
T |
C |
17: 79,148,446 (GRCm39) |
L128P |
probably damaging |
Het |
| Inava |
C |
T |
1: 136,153,946 (GRCm39) |
V180I |
probably damaging |
Het |
| Kcns3 |
T |
C |
12: 11,141,382 (GRCm39) |
N439S |
possibly damaging |
Het |
| Llgl1 |
C |
T |
11: 60,600,394 (GRCm39) |
P581L |
probably benign |
Het |
| Mbd1 |
G |
T |
18: 74,407,487 (GRCm39) |
R199L |
probably damaging |
Het |
| Mbd5 |
T |
A |
2: 49,146,339 (GRCm39) |
M183K |
probably benign |
Het |
| Mecom |
C |
A |
3: 30,020,887 (GRCm39) |
V452L |
possibly damaging |
Het |
| Nckap1l |
A |
G |
15: 103,395,246 (GRCm39) |
T909A |
probably damaging |
Het |
| Ntrk2 |
A |
G |
13: 59,026,073 (GRCm39) |
K464E |
probably damaging |
Het |
| Orc1 |
C |
T |
4: 108,450,649 (GRCm39) |
T127I |
probably damaging |
Het |
| Pcdh17 |
T |
C |
14: 84,685,060 (GRCm39) |
I509T |
probably damaging |
Het |
| Pcsk7 |
G |
A |
9: 45,830,646 (GRCm39) |
A475T |
probably damaging |
Het |
| Prb1b |
T |
G |
6: 132,290,624 (GRCm39) |
Y25S |
unknown |
Het |
| Prdm16 |
A |
G |
4: 154,561,124 (GRCm39) |
V136A |
probably benign |
Het |
| Ptch1 |
C |
T |
13: 63,682,143 (GRCm39) |
R537H |
probably damaging |
Het |
| Ptpn13 |
T |
A |
5: 103,717,592 (GRCm39) |
S1879R |
probably damaging |
Het |
| Rasgrp3 |
A |
T |
17: 75,818,975 (GRCm39) |
Q388L |
probably benign |
Het |
| Rnf31 |
AAC |
A |
14: 55,838,555 (GRCm39) |
|
probably null |
Het |
| Rnf38 |
A |
T |
4: 44,149,100 (GRCm39) |
N82K |
possibly damaging |
Het |
| Ssx2ip |
T |
C |
3: 146,138,245 (GRCm39) |
V364A |
probably benign |
Het |
| Ttn |
A |
G |
2: 76,595,109 (GRCm39) |
I20347T |
possibly damaging |
Het |
| Vmn2r120 |
A |
T |
17: 57,829,466 (GRCm39) |
F477Y |
possibly damaging |
Het |
| Wee1 |
A |
G |
7: 109,730,165 (GRCm39) |
H423R |
probably damaging |
Het |
|
| Other mutations in Smco3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02037:Smco3
|
APN |
6 |
136,808,197 (GRCm39) |
makesense |
probably null |
|
|
R1928:Smco3
|
UTSW |
6 |
136,808,845 (GRCm39) |
nonsense |
probably null |
|
|
R3407:Smco3
|
UTSW |
6 |
136,808,425 (GRCm39) |
missense |
probably benign |
0.36 |
|
R4735:Smco3
|
UTSW |
6 |
136,808,636 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5744:Smco3
|
UTSW |
6 |
136,808,763 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7716:Smco3
|
UTSW |
6 |
136,808,247 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8983:Smco3
|
UTSW |
6 |
136,808,730 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R9224:Smco3
|
UTSW |
6 |
136,808,517 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9234:Smco3
|
UTSW |
6 |
136,808,410 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0066:Smco3
|
UTSW |
6 |
136,808,532 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Smco3
|
UTSW |
6 |
136,808,691 (GRCm39) |
missense |
probably benign |
0.06 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACCAGTTTAACAGCCACTGC -3'
(R):5'- AGAGTGACTTCCTCTACCCAC -3'
Sequencing Primer
(F):5'- AGATGTAGCTTCTCCCAGGATGAC -3'
(R):5'- GAGTGACTTCCTCTACCCACAAAAC -3'
|
| Posted On |
2015-07-07 |
Incidental Mutation