Incidental Mutation 'IGL00815:Sec23a'
| ID |
13948 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Sec23a
|
| Ensembl Gene |
ENSMUSG00000020986 |
| Gene Name |
SEC23 homolog A, COPII coat complex component |
| Synonyms |
Sec23r, Msec23 |
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.296)
|
| Stock # |
IGL00815
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
12 |
| Chromosomal Location |
59005170-59058803 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 59039068 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Tyrosine
at position 248
(C248Y)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000126011
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021375]
[ENSMUST00000165134]
|
| AlphaFold |
Q01405 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000021375
AA Change: C277Y
PolyPhen 2
Score 0.337 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000021375
Gene: ENSMUSG00000020986
AA Change: C277Y
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:zf-Sec23_Sec24
|
58 |
98 |
2.7e-17 |
PFAM |
|
Pfam:Sec23_trunk
|
126 |
390 |
2e-81 |
PFAM |
|
Pfam:Sec23_BS
|
401 |
504 |
3.2e-35 |
PFAM |
|
Pfam:Sec23_helical
|
520 |
618 |
1e-30 |
PFAM |
|
Pfam:Gelsolin
|
629 |
718 |
9.3e-17 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000165134
AA Change: C248Y
PolyPhen 2
Score 0.470 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000126011
Gene: ENSMUSG00000020986
AA Change: C248Y
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:zf-Sec23_Sec24
|
57 |
98 |
8.1e-16 |
PFAM |
|
Pfam:Sec23_trunk
|
97 |
361 |
6.5e-84 |
PFAM |
|
Pfam:Sec23_BS
|
372 |
475 |
3.8e-36 |
PFAM |
|
Pfam:Sec23_helical
|
490 |
590 |
1.6e-38 |
PFAM |
|
Pfam:Gelsolin
|
599 |
689 |
2.7e-17 |
PFAM |
|
| Coding Region Coverage |
|
| 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 is a member of the SEC23 subfamily of the SEC23/SEC24 family. It is part of a protein complex and found in the ribosome-free transitional face of the endoplasmic reticulum (ER) and associated vesicles. This protein has similarity to yeast Sec23p component of COPII. COPII is the coat protein complex responsible for vesicle budding from the ER. The encoded protein is suggested to play a role in the ER-Golgi protein trafficking. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele die during mid-embryogenesis exhibiting defects in neural tube closure and extraembryonic membrane formation as well as broad secretion defects of multiple collagen species in different tissues. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adal |
A |
G |
2: 120,981,699 (GRCm39) |
|
probably benign |
Het |
| Arhgap20 |
A |
G |
9: 51,760,713 (GRCm39) |
N819D |
probably benign |
Het |
| Cenpe |
A |
G |
3: 134,965,112 (GRCm39) |
I2061V |
probably benign |
Het |
| Chrna4 |
T |
C |
2: 180,671,184 (GRCm39) |
I191V |
probably benign |
Het |
| Crim1 |
A |
G |
17: 78,677,520 (GRCm39) |
E907G |
probably damaging |
Het |
| Cyp2d9 |
T |
A |
15: 82,340,576 (GRCm39) |
D175E |
possibly damaging |
Het |
| Eml4 |
A |
G |
17: 83,758,219 (GRCm39) |
|
probably benign |
Het |
| Faim |
G |
A |
9: 98,874,218 (GRCm39) |
G15R |
probably damaging |
Het |
| Fam3c |
A |
T |
6: 22,318,947 (GRCm39) |
D151E |
probably damaging |
Het |
| Far1 |
G |
A |
7: 113,139,896 (GRCm39) |
V115I |
probably benign |
Het |
| Gfap |
T |
C |
11: 102,779,516 (GRCm39) |
D427G |
possibly damaging |
Het |
| Hdac5 |
A |
G |
11: 102,088,168 (GRCm39) |
F934S |
probably damaging |
Het |
| Hyou1 |
A |
G |
9: 44,296,443 (GRCm39) |
E456G |
probably benign |
Het |
| Kl |
G |
A |
5: 150,904,315 (GRCm39) |
E356K |
possibly damaging |
Het |
| Morc1 |
T |
C |
16: 48,281,055 (GRCm39) |
I198T |
possibly damaging |
Het |
| Mroh9 |
C |
T |
1: 162,866,700 (GRCm39) |
V679M |
probably damaging |
Het |
| Pigr |
T |
A |
1: 130,762,167 (GRCm39) |
M1K |
probably null |
Het |
| Pkn3 |
C |
A |
2: 29,971,212 (GRCm39) |
P260T |
possibly damaging |
Het |
| Pld5 |
T |
G |
1: 175,967,585 (GRCm39) |
D28A |
probably damaging |
Het |
| Plekhg2 |
G |
A |
7: 28,060,294 (GRCm39) |
Q1012* |
probably null |
Het |
| Ppp1ca |
A |
G |
19: 4,243,143 (GRCm39) |
I104V |
probably benign |
Het |
| Rad21l |
A |
G |
2: 151,509,909 (GRCm39) |
V64A |
probably damaging |
Het |
| Rbm20 |
A |
G |
19: 53,803,948 (GRCm39) |
D427G |
probably damaging |
Het |
| Rev3l |
A |
G |
10: 39,735,149 (GRCm39) |
I2792V |
possibly damaging |
Het |
| Sf3b1 |
A |
T |
1: 55,036,090 (GRCm39) |
|
probably benign |
Het |
| Slc30a1 |
A |
G |
1: 191,641,191 (GRCm39) |
N279S |
probably damaging |
Het |
| Slit2 |
G |
A |
5: 48,146,493 (GRCm39) |
E95K |
possibly damaging |
Het |
| Spic |
T |
C |
10: 88,511,729 (GRCm39) |
N176D |
probably damaging |
Het |
| Tlk2 |
C |
T |
11: 105,137,621 (GRCm39) |
Q184* |
probably null |
Het |
| Tpm4 |
T |
C |
8: 72,897,347 (GRCm39) |
I107T |
probably benign |
Het |
| Ttll11 |
A |
T |
2: 35,792,732 (GRCm39) |
C186* |
probably null |
Het |
| Txlnb |
A |
T |
10: 17,718,711 (GRCm39) |
H514L |
probably damaging |
Het |
| Zfpm2 |
T |
A |
15: 40,962,887 (GRCm39) |
M183K |
probably benign |
Het |
|
| Other mutations in Sec23a |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01836:Sec23a
|
APN |
12 |
59,018,073 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL01906:Sec23a
|
APN |
12 |
59,053,830 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02383:Sec23a
|
APN |
12 |
59,048,813 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02507:Sec23a
|
APN |
12 |
59,053,884 (GRCm39) |
missense |
probably benign |
0.34 |
|
IGL02816:Sec23a
|
APN |
12 |
59,025,331 (GRCm39) |
missense |
probably benign |
0.03 |
|
IGL03060:Sec23a
|
APN |
12 |
59,032,891 (GRCm39) |
missense |
probably benign |
|
|
R0308:Sec23a
|
UTSW |
12 |
59,053,985 (GRCm39) |
nonsense |
probably null |
|
|
R0361:Sec23a
|
UTSW |
12 |
59,037,804 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0546:Sec23a
|
UTSW |
12 |
59,031,953 (GRCm39) |
missense |
probably benign |
0.07 |
|
R0720:Sec23a
|
UTSW |
12 |
59,018,057 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1084:Sec23a
|
UTSW |
12 |
59,031,921 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R1156:Sec23a
|
UTSW |
12 |
59,048,622 (GRCm39) |
missense |
probably benign |
|
|
R1438:Sec23a
|
UTSW |
12 |
59,048,796 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1446:Sec23a
|
UTSW |
12 |
59,025,345 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1526:Sec23a
|
UTSW |
12 |
59,032,972 (GRCm39) |
splice site |
probably null |
|
|
R1705:Sec23a
|
UTSW |
12 |
59,048,652 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R1997:Sec23a
|
UTSW |
12 |
59,048,793 (GRCm39) |
missense |
probably benign |
|
|
R2051:Sec23a
|
UTSW |
12 |
59,037,754 (GRCm39) |
splice site |
probably null |
|
|
R2081:Sec23a
|
UTSW |
12 |
59,045,067 (GRCm39) |
nonsense |
probably null |
|
|
R4201:Sec23a
|
UTSW |
12 |
59,048,791 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4706:Sec23a
|
UTSW |
12 |
59,029,372 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4724:Sec23a
|
UTSW |
12 |
59,025,292 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4969:Sec23a
|
UTSW |
12 |
59,051,274 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5375:Sec23a
|
UTSW |
12 |
59,053,791 (GRCm39) |
missense |
probably benign |
0.15 |
|
R5858:Sec23a
|
UTSW |
12 |
59,019,821 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6539:Sec23a
|
UTSW |
12 |
59,031,998 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6558:Sec23a
|
UTSW |
12 |
59,051,338 (GRCm39) |
missense |
probably benign |
0.03 |
|
R6616:Sec23a
|
UTSW |
12 |
59,043,941 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R6716:Sec23a
|
UTSW |
12 |
59,015,609 (GRCm39) |
missense |
probably benign |
0.09 |
|
R7078:Sec23a
|
UTSW |
12 |
59,039,069 (GRCm39) |
missense |
probably benign |
0.07 |
|
R7155:Sec23a
|
UTSW |
12 |
59,036,229 (GRCm39) |
missense |
probably benign |
0.03 |
|
R7367:Sec23a
|
UTSW |
12 |
59,013,785 (GRCm39) |
missense |
probably benign |
|
|
R7923:Sec23a
|
UTSW |
12 |
59,039,033 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8178:Sec23a
|
UTSW |
12 |
59,053,980 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R8557:Sec23a
|
UTSW |
12 |
59,052,056 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R8839:Sec23a
|
UTSW |
12 |
59,037,781 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R9141:Sec23a
|
UTSW |
12 |
59,053,890 (GRCm39) |
missense |
probably benign |
0.42 |
|
R9213:Sec23a
|
UTSW |
12 |
59,048,708 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9426:Sec23a
|
UTSW |
12 |
59,053,890 (GRCm39) |
missense |
probably benign |
0.42 |
|
R9508:Sec23a
|
UTSW |
12 |
59,036,185 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9520:Sec23a
|
UTSW |
12 |
59,031,974 (GRCm39) |
missense |
probably benign |
|
|
R9562:Sec23a
|
UTSW |
12 |
59,048,817 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R9608:Sec23a
|
UTSW |
12 |
59,019,804 (GRCm39) |
missense |
probably benign |
|
|
R9797:Sec23a
|
UTSW |
12 |
59,052,060 (GRCm39) |
nonsense |
probably null |
|
|
Z1088:Sec23a
|
UTSW |
12 |
59,051,362 (GRCm39) |
missense |
probably benign |
0.01 |
|
| Posted On |
2012-12-06 |
Incidental Mutation