Incidental Mutation 'D3080:Sec31a'
| ID |
119 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Sec31a
|
| Ensembl Gene |
ENSMUSG00000035325 |
| Gene Name |
SEC31 homolog A, COPII coat complex component |
| Synonyms |
1810024J13Rik, Sec31l1 |
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.855)
|
| Stock # |
D3080
of strain
grasshopper
|
| Quality Score |
|
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
100509508-100564093 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 100511691 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 1107
(D1107G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000138213
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000094578]
[ENSMUST00000182886]
|
| AlphaFold |
Q3UPL0 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000094578
AA Change: D1146G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000092157
Gene: ENSMUSG00000035325
AA Change: D1146G
| Domain | Start | End | E-Value | Type |
|---|
|
WD40
|
56 |
102 |
1.59e1 |
SMART |
|
WD40
|
111 |
151 |
5.15e-2 |
SMART |
|
WD40
|
158 |
197 |
5.16e-1 |
SMART |
|
WD40
|
200 |
245 |
6.63e0 |
SMART |
|
WD40
|
249 |
289 |
1.95e-2 |
SMART |
|
WD40
|
292 |
332 |
4.24e-3 |
SMART |
|
low complexity region
|
363 |
373 |
N/A |
INTRINSIC |
|
Pfam:Sec16_C
|
572 |
769 |
3.5e-7 |
PFAM |
|
low complexity region
|
866 |
882 |
N/A |
INTRINSIC |
|
low complexity region
|
930 |
949 |
N/A |
INTRINSIC |
|
low complexity region
|
953 |
975 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000182002
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000182433
AA Change: D179G
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000182569
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000182664
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000182812
AA Change: D332G
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000182886
AA Change: D1107G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000138213
Gene: ENSMUSG00000035325
AA Change: D1107G
| Domain | Start | End | E-Value | Type |
|---|
|
WD40
|
56 |
102 |
1e-1 |
SMART |
|
WD40
|
111 |
151 |
3.3e-4 |
SMART |
|
WD40
|
158 |
197 |
3.2e-3 |
SMART |
|
WD40
|
200 |
245 |
4.1e-2 |
SMART |
|
WD40
|
249 |
289 |
1.2e-4 |
SMART |
|
WD40
|
292 |
332 |
2.6e-5 |
SMART |
|
low complexity region
|
363 |
373 |
N/A |
INTRINSIC |
|
Pfam:Sec16_C
|
532 |
731 |
2.1e-6 |
PFAM |
|
low complexity region
|
827 |
843 |
N/A |
INTRINSIC |
|
low complexity region
|
891 |
910 |
N/A |
INTRINSIC |
|
low complexity region
|
914 |
936 |
N/A |
INTRINSIC |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000182988
AA Change: D849G
|
| Meta Mutation Damage Score |
0.1379 |
| Coding Region Coverage |
|
| Validation Efficiency |
82% (141/173) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene shares similarity with the yeast Sec31 protein, and is a component of the outer layer of the coat protein complex II (COPII). The encoded protein is involved in vesicle budding from the endoplasmic reticulum (ER) and contains multiple WD repeats near the N-terminus and a proline-rich region in the C-terminal half. It associates with the protein encoded by the SEC13 homolog, nuclear pore and COPII coat complex component (SEC13), and is required for ER-Golgi transport. Monoubiquitylation of this protein by CUL3-KLHL12 was found to regulate the size of COPII coats to accommodate unusually shaped cargo. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Dec 2015]
|
| Allele List at MGI |
All alleles(31) : Gene trapped(31)
|
| Other mutations in this stock |
Total: 20 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2310003L06Rik |
C |
A |
5: 88,119,846 (GRCm39) |
P201Q |
possibly damaging |
Het |
| Bdp1 |
A |
T |
13: 100,160,129 (GRCm39) |
S2417R |
probably benign |
Het |
| Ccdc168 |
C |
A |
1: 44,106,495 (GRCm39) |
|
|
Het |
| Dscaml1 |
A |
T |
9: 45,595,623 (GRCm39) |
H783L |
probably benign |
Het |
| Fbxl5 |
A |
T |
5: 43,915,708 (GRCm39) |
M568K |
probably benign |
Het |
| Gab1 |
T |
A |
8: 81,493,007 (GRCm39) |
D710V |
probably damaging |
Homo |
| Gabrr2 |
T |
C |
4: 33,084,466 (GRCm39) |
F128S |
probably damaging |
Het |
| Hyou1 |
T |
A |
9: 44,295,774 (GRCm39) |
V343E |
probably damaging |
Het |
| Nlrp4a |
A |
G |
7: 26,143,766 (GRCm39) |
T44A |
probably benign |
Het |
| Nsd3 |
C |
A |
8: 26,203,572 (GRCm39) |
T1362N |
possibly damaging |
Homo |
| Or6f2 |
G |
A |
7: 139,756,275 (GRCm39) |
V81M |
possibly damaging |
Het |
| Pcm1 |
T |
A |
8: 41,728,976 (GRCm39) |
N649K |
probably damaging |
Homo |
| Pde4dip |
T |
C |
3: 97,674,146 (GRCm39) |
K257E |
probably damaging |
Het |
| Pfpl |
G |
A |
19: 12,406,196 (GRCm39) |
R149Q |
probably damaging |
Homo |
| Pou2f2 |
G |
T |
7: 24,796,558 (GRCm39) |
|
probably benign |
Het |
| Rptn |
A |
G |
3: 93,303,135 (GRCm39) |
D156G |
possibly damaging |
Het |
| Smyd3 |
A |
G |
1: 178,913,987 (GRCm39) |
Y239H |
probably damaging |
Het |
| Stoml3 |
T |
C |
3: 53,405,415 (GRCm39) |
F32S |
probably benign |
Het |
| Tnnc1 |
C |
A |
14: 30,932,147 (GRCm39) |
D62E |
probably damaging |
Homo |
| Vsig10 |
C |
T |
5: 117,481,884 (GRCm39) |
A358V |
probably damaging |
Het |
|
| Other mutations in Sec31a |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00657:Sec31a
|
APN |
5 |
100,551,876 (GRCm39) |
nonsense |
probably null |
|
|
IGL01610:Sec31a
|
APN |
5 |
100,550,217 (GRCm39) |
splice site |
probably benign |
|
|
IGL01804:Sec31a
|
APN |
5 |
100,523,065 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL02026:Sec31a
|
APN |
5 |
100,517,485 (GRCm39) |
missense |
probably benign |
0.04 |
|
IGL02150:Sec31a
|
APN |
5 |
100,533,984 (GRCm39) |
splice site |
probably benign |
|
|
IGL02237:Sec31a
|
APN |
5 |
100,509,914 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02469:Sec31a
|
APN |
5 |
100,533,114 (GRCm39) |
missense |
probably benign |
0.02 |
|
IGL02512:Sec31a
|
APN |
5 |
100,555,052 (GRCm39) |
missense |
probably damaging |
0.99 |
|
control
|
UTSW |
5 |
100,510,032 (GRCm39) |
missense |
probably damaging |
1.00 |
|
PIT4142001:Sec31a
|
UTSW |
5 |
100,555,134 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0366:Sec31a
|
UTSW |
5 |
100,530,625 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0453:Sec31a
|
UTSW |
5 |
100,551,977 (GRCm39) |
splice site |
probably benign |
|
|
R0511:Sec31a
|
UTSW |
5 |
100,523,099 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0546:Sec31a
|
UTSW |
5 |
100,551,929 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0675:Sec31a
|
UTSW |
5 |
100,541,066 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R0678:Sec31a
|
UTSW |
5 |
100,555,084 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
R0975:Sec31a
|
UTSW |
5 |
100,543,763 (GRCm39) |
splice site |
probably null |
|
|
R1146:Sec31a
|
UTSW |
5 |
100,510,032 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1146:Sec31a
|
UTSW |
5 |
100,510,032 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1540:Sec31a
|
UTSW |
5 |
100,523,178 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1616:Sec31a
|
UTSW |
5 |
100,534,054 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R1780:Sec31a
|
UTSW |
5 |
100,529,195 (GRCm39) |
splice site |
probably null |
|
|
R2472:Sec31a
|
UTSW |
5 |
100,533,064 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3689:Sec31a
|
UTSW |
5 |
100,530,766 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4515:Sec31a
|
UTSW |
5 |
100,513,817 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4801:Sec31a
|
UTSW |
5 |
100,541,222 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R4802:Sec31a
|
UTSW |
5 |
100,541,222 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R4896:Sec31a
|
UTSW |
5 |
100,516,192 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5004:Sec31a
|
UTSW |
5 |
100,516,192 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5053:Sec31a
|
UTSW |
5 |
100,541,073 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R5158:Sec31a
|
UTSW |
5 |
100,541,180 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5191:Sec31a
|
UTSW |
5 |
100,553,370 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R5222:Sec31a
|
UTSW |
5 |
100,530,754 (GRCm39) |
missense |
probably benign |
|
|
R5405:Sec31a
|
UTSW |
5 |
100,531,657 (GRCm39) |
nonsense |
probably null |
|
|
R5436:Sec31a
|
UTSW |
5 |
100,511,698 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5577:Sec31a
|
UTSW |
5 |
100,550,133 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R6005:Sec31a
|
UTSW |
5 |
100,511,737 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6184:Sec31a
|
UTSW |
5 |
100,517,453 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6245:Sec31a
|
UTSW |
5 |
100,534,043 (GRCm39) |
missense |
probably benign |
0.07 |
|
R6475:Sec31a
|
UTSW |
5 |
100,533,129 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6476:Sec31a
|
UTSW |
5 |
100,534,008 (GRCm39) |
missense |
probably benign |
0.03 |
|
R6744:Sec31a
|
UTSW |
5 |
100,540,358 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
R6804:Sec31a
|
UTSW |
5 |
100,530,671 (GRCm39) |
missense |
probably benign |
0.03 |
|
R6911:Sec31a
|
UTSW |
5 |
100,541,123 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R6936:Sec31a
|
UTSW |
5 |
100,540,369 (GRCm39) |
missense |
probably benign |
|
|
R7345:Sec31a
|
UTSW |
5 |
100,533,129 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7760:Sec31a
|
UTSW |
5 |
100,540,487 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7898:Sec31a
|
UTSW |
5 |
100,547,336 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8088:Sec31a
|
UTSW |
5 |
100,526,721 (GRCm39) |
missense |
|
|
|
R8555:Sec31a
|
UTSW |
5 |
100,540,273 (GRCm39) |
missense |
probably benign |
0.25 |
|
R8762:Sec31a
|
UTSW |
5 |
100,526,688 (GRCm39) |
missense |
|
|
|
R9055:Sec31a
|
UTSW |
5 |
100,534,040 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R9173:Sec31a
|
UTSW |
5 |
100,529,147 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R9249:Sec31a
|
UTSW |
5 |
100,533,083 (GRCm39) |
missense |
probably damaging |
0.98 |
|
X0003:Sec31a
|
UTSW |
5 |
100,547,213 (GRCm39) |
missense |
probably damaging |
0.98 |
|
Z1177:Sec31a
|
UTSW |
5 |
100,531,704 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Nature of Mutation |
.gif) DNA sequencing using the SOLiD technique identified an A to G transition at position 2858 of the Sec31a transcript in exon 22 of 28 total exons. Multiple transcripts of the Sec31a gene are displayed on Ensembl. The mutated nucleotide causes an aspartic acid to glycine substitution at amino acid 1146 of isoform 1 (Uniprot Q3UPL0) . The mutation has been confirmed by DNA sequencing using the Sanger method (Figure 1).
|
| Protein Function and Prediction |
The Sec31a gene encodes a 1230 amino acid protein that is a component of the coat protein complex II (COPII), which promotes the formation of transport vesicles from the endoplasmic reticulum (ER). Sec31a contains seven WD repeats (Uniprot Q3UPL0).
The D1146G change does not occur in any known domain or protein interactions region, and is predicted to be possibly damaging by the PolyPhen program. |
| Posted On |
2010-03-12 |
Incidental Mutation