Incidental Mutation 'R2472:Sec31a'
| ID |
253153 |
| 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: 0.899)
|
| Stock # |
R2472 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
100509508-100564093 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 100533064 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Methionine
at position 560
(I560M)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000138213
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000094578]
[ENSMUST00000182886]
[ENSMUST00000183247]
|
| AlphaFold |
Q3UPL0 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000094578
AA Change: I599M
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000092157
Gene: ENSMUSG00000035325
AA Change: I599M
| 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: ENSMUST00000182812
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000182886
AA Change: I560M
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000138213
Gene: ENSMUSG00000035325
AA Change: I560M
| 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 |
probably damaging
Transcript: ENSMUST00000182988
AA Change: I299M
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000183247
AA Change: I169M
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000138129
Gene: ENSMUSG00000035325
AA Change: I169M
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Sec16_C
|
141 |
248 |
1.5e-7 |
PFAM |
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.4%
|
| Validation Efficiency |
|
| 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: 25 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aacs |
T |
C |
5: 125,583,316 (GRCm39) |
S291P |
probably damaging |
Het |
| Cbln3 |
T |
C |
14: 56,121,538 (GRCm39) |
E36G |
possibly damaging |
Het |
| Cdcp1 |
A |
G |
9: 123,014,172 (GRCm39) |
F201L |
probably benign |
Het |
| Crispld1 |
A |
T |
1: 17,816,052 (GRCm39) |
R142S |
probably null |
Het |
| Dsc2 |
T |
A |
18: 20,178,526 (GRCm39) |
M293L |
probably benign |
Het |
| Dzip3 |
A |
T |
16: 48,774,150 (GRCm39) |
S362T |
possibly damaging |
Het |
| Grm4 |
C |
T |
17: 27,653,649 (GRCm39) |
C512Y |
probably damaging |
Het |
| Klk14 |
G |
A |
7: 43,341,501 (GRCm39) |
C51Y |
probably damaging |
Het |
| L1td1 |
C |
T |
4: 98,621,396 (GRCm39) |
|
probably benign |
Het |
| Nav2 |
A |
G |
7: 49,058,632 (GRCm39) |
T252A |
probably benign |
Het |
| Neu3 |
A |
C |
7: 99,462,614 (GRCm39) |
S370A |
probably damaging |
Het |
| Nfasc |
T |
A |
1: 132,515,959 (GRCm39) |
|
probably benign |
Het |
| Or2o1 |
T |
C |
11: 49,051,198 (GRCm39) |
V119A |
possibly damaging |
Het |
| Ptk7 |
T |
C |
17: 46,887,774 (GRCm39) |
T553A |
probably benign |
Het |
| Rap2a |
T |
C |
14: 120,716,245 (GRCm39) |
I36T |
possibly damaging |
Het |
| Rinl |
A |
C |
7: 28,489,803 (GRCm39) |
D7A |
possibly damaging |
Het |
| Rufy4 |
T |
C |
1: 74,186,822 (GRCm39) |
C537R |
probably damaging |
Het |
| Sec16a |
T |
C |
2: 26,329,948 (GRCm39) |
E689G |
probably damaging |
Het |
| Secisbp2l |
C |
T |
2: 125,582,657 (GRCm39) |
G933D |
possibly damaging |
Het |
| Setdb2 |
G |
A |
14: 59,656,903 (GRCm39) |
T138I |
possibly damaging |
Het |
| Sgsh |
G |
T |
11: 119,246,300 (GRCm39) |
P4Q |
possibly damaging |
Het |
| Slco4a1 |
G |
T |
2: 180,108,880 (GRCm39) |
W308L |
probably damaging |
Het |
| Ttn |
T |
A |
2: 76,611,863 (GRCm39) |
R17346S |
possibly damaging |
Het |
| Ubxn4 |
A |
G |
1: 128,200,606 (GRCm39) |
R366G |
probably damaging |
Het |
| Vmn2r90 |
T |
G |
17: 17,948,408 (GRCm39) |
N551K |
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 |
|
D3080:Sec31a
|
UTSW |
5 |
100,511,691 (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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- CACTGGAATTGTTTCACATCAAAAC -3'
(R):5'- TCCACTTGTCTGTGAATGAAATC -3'
Sequencing Primer
(F):5'- CCTCCCGAGTGCTAGGATTAAAG -3'
(R):5'- ACGGTCTAATTACCCGG -3'
|
| Posted On |
2014-12-04 |
Incidental Mutation