Incidental Mutation 'R2188:Sec24a'
| ID |
237936 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Sec24a
|
| Ensembl Gene |
ENSMUSG00000036391 |
| Gene Name |
SEC24 homolog A, COPII coat complex component |
| Synonyms |
9430090N21Rik |
| MMRRC Submission |
040190-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R2188 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
51583090-51649172 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 51614411 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 531
(L531P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000104720
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000038210]
[ENSMUST00000064297]
[ENSMUST00000109092]
[ENSMUST00000109097]
|
| AlphaFold |
Q3U2P1 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000038210
AA Change: L531P
PolyPhen 2
Score 0.679 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000044370
Gene: ENSMUSG00000036391
AA Change: L531P
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
8 |
28 |
N/A |
INTRINSIC |
|
low complexity region
|
71 |
84 |
N/A |
INTRINSIC |
|
low complexity region
|
196 |
235 |
N/A |
INTRINSIC |
|
low complexity region
|
396 |
414 |
N/A |
INTRINSIC |
|
Pfam:zf-Sec23_Sec24
|
423 |
461 |
8e-19 |
PFAM |
|
Pfam:Sec23_trunk
|
497 |
735 |
1.2e-87 |
PFAM |
|
Pfam:Sec23_BS
|
740 |
824 |
1.1e-23 |
PFAM |
|
Pfam:Sec23_helical
|
836 |
938 |
5.1e-27 |
PFAM |
|
Pfam:Gelsolin
|
960 |
1035 |
7.2e-15 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000064297
AA Change: L532P
PolyPhen 2
Score 0.843 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000068065
Gene: ENSMUSG00000036391
AA Change: L532P
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
8 |
28 |
N/A |
INTRINSIC |
|
low complexity region
|
71 |
84 |
N/A |
INTRINSIC |
|
low complexity region
|
196 |
235 |
N/A |
INTRINSIC |
|
low complexity region
|
396 |
414 |
N/A |
INTRINSIC |
|
Pfam:zf-Sec23_Sec24
|
424 |
462 |
3.5e-18 |
PFAM |
|
Pfam:Sec23_trunk
|
498 |
589 |
1.3e-29 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000109092
AA Change: L531P
PolyPhen 2
Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000104720
Gene: ENSMUSG00000036391
AA Change: L531P
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
8 |
28 |
N/A |
INTRINSIC |
|
low complexity region
|
71 |
84 |
N/A |
INTRINSIC |
|
low complexity region
|
196 |
235 |
N/A |
INTRINSIC |
|
low complexity region
|
396 |
414 |
N/A |
INTRINSIC |
|
Pfam:zf-Sec23_Sec24
|
423 |
461 |
3.9e-19 |
PFAM |
|
Pfam:Sec23_trunk
|
497 |
588 |
1.6e-30 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000109097
AA Change: L532P
PolyPhen 2
Score 0.843 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000104725
Gene: ENSMUSG00000036391
AA Change: L532P
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
8 |
28 |
N/A |
INTRINSIC |
|
low complexity region
|
71 |
84 |
N/A |
INTRINSIC |
|
low complexity region
|
196 |
235 |
N/A |
INTRINSIC |
|
low complexity region
|
396 |
414 |
N/A |
INTRINSIC |
|
Pfam:zf-Sec23_Sec24
|
425 |
462 |
2.4e-16 |
PFAM |
|
Pfam:Sec23_trunk
|
498 |
736 |
7.8e-87 |
PFAM |
|
Pfam:Sec23_BS
|
741 |
825 |
1.1e-22 |
PFAM |
|
Pfam:Sec23_helical
|
838 |
938 |
6.9e-28 |
PFAM |
|
Pfam:Gelsolin
|
961 |
1036 |
9.3e-14 |
PFAM |
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.1%
|
| 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 belongs to a family of proteins that are homologous to yeast Sec24. This protein is a component of coat protein II (COPII)-coated vesicles that mediate protein transport from the endoplasmic reticulum. COPII acts in the cytoplasm to promote the transport of secretory, plasma membrane, and vacuolar proteins from the endoplasmic reticulum to the golgi complex. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2011]
PHENOTYPE: Mice homozygous for a null allele exhibit decreased circulating cholesterol level, decreased circulating LDL cholesterol level, and abnormal liver physiology. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca7 |
T |
C |
10: 79,838,367 (GRCm39) |
L547P |
probably damaging |
Het |
| Arhgap29 |
A |
C |
3: 121,784,658 (GRCm39) |
D195A |
probably damaging |
Het |
| Atad3a |
A |
T |
4: 155,835,976 (GRCm39) |
I274N |
probably damaging |
Het |
| Ccdc12 |
G |
T |
9: 110,485,699 (GRCm39) |
K23N |
possibly damaging |
Het |
| Ccpg1 |
A |
G |
9: 72,920,388 (GRCm39) |
T668A |
probably benign |
Het |
| Cdc34b |
T |
C |
11: 94,632,998 (GRCm39) |
I66T |
probably benign |
Het |
| Dnah1 |
A |
G |
14: 31,001,121 (GRCm39) |
I2408T |
probably damaging |
Het |
| Fam91a1 |
A |
C |
15: 58,302,512 (GRCm39) |
N284T |
probably damaging |
Het |
| Gbp2b |
A |
T |
3: 142,314,040 (GRCm39) |
E440V |
probably benign |
Het |
| Gm5134 |
T |
C |
10: 75,831,670 (GRCm39) |
S370P |
probably damaging |
Het |
| Hmcn2 |
G |
A |
2: 31,309,947 (GRCm39) |
A3238T |
probably benign |
Het |
| Hmg20a |
A |
G |
9: 56,384,584 (GRCm39) |
E118G |
possibly damaging |
Het |
| Itprid2 |
T |
C |
2: 79,475,267 (GRCm39) |
S409P |
probably benign |
Het |
| Kdm5a |
T |
A |
6: 120,383,601 (GRCm39) |
F781I |
possibly damaging |
Het |
| Klk14 |
G |
A |
7: 43,341,501 (GRCm39) |
C51Y |
probably damaging |
Het |
| Kmt2d |
A |
G |
15: 98,737,181 (GRCm39) |
|
probably benign |
Het |
| Lrp1b |
T |
C |
2: 41,298,971 (GRCm39) |
T857A |
probably benign |
Het |
| Mucl2 |
T |
A |
15: 103,927,840 (GRCm39) |
N39I |
probably damaging |
Het |
| Myl6 |
A |
G |
10: 128,328,566 (GRCm39) |
I27T |
possibly damaging |
Het |
| Ndor1 |
A |
T |
2: 25,141,765 (GRCm39) |
|
probably null |
Het |
| Nlrp9a |
A |
G |
7: 26,264,354 (GRCm39) |
E758G |
probably damaging |
Het |
| Or52h7 |
G |
A |
7: 104,213,883 (GRCm39) |
A152T |
probably benign |
Het |
| Or8u8 |
A |
T |
2: 86,011,780 (GRCm39) |
I225N |
probably damaging |
Het |
| Parp3 |
G |
A |
9: 106,353,051 (GRCm39) |
R42W |
probably damaging |
Het |
| Pik3c2g |
A |
G |
6: 139,798,600 (GRCm39) |
I495V |
probably damaging |
Het |
| Qrfprl |
C |
A |
6: 65,418,260 (GRCm39) |
H143N |
probably damaging |
Het |
| Sdsl |
C |
T |
5: 120,596,485 (GRCm39) |
G310S |
probably damaging |
Het |
| Slc2a12 |
C |
T |
10: 22,540,736 (GRCm39) |
S197F |
probably benign |
Het |
| Snapc1 |
T |
A |
12: 74,017,001 (GRCm39) |
I213N |
probably damaging |
Het |
| Srpk1 |
A |
T |
17: 28,813,163 (GRCm39) |
I527N |
probably damaging |
Het |
| Steap2 |
G |
T |
5: 5,723,643 (GRCm39) |
Y412* |
probably null |
Het |
| Tbk1 |
A |
C |
10: 121,399,836 (GRCm39) |
Y329* |
probably null |
Het |
| Tekt5 |
T |
C |
16: 10,176,189 (GRCm39) |
E452G |
probably damaging |
Het |
| Tmc5 |
G |
T |
7: 118,254,178 (GRCm39) |
C672F |
probably damaging |
Het |
| Trim27 |
T |
C |
13: 21,367,987 (GRCm39) |
L201S |
probably damaging |
Het |
| Vil1 |
A |
C |
1: 74,466,724 (GRCm39) |
D638A |
probably benign |
Het |
| Vmn2r68 |
TCC |
TC |
7: 84,870,758 (GRCm39) |
|
probably null |
Het |
| Zfp583 |
C |
T |
7: 6,320,610 (GRCm39) |
R134H |
probably benign |
Het |
|
| Other mutations in Sec24a |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00571:Sec24a
|
APN |
11 |
51,627,331 (GRCm39) |
nonsense |
probably null |
|
|
IGL00973:Sec24a
|
APN |
11 |
51,620,404 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
IGL01364:Sec24a
|
APN |
11 |
51,604,356 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL01476:Sec24a
|
APN |
11 |
51,599,783 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
IGL01725:Sec24a
|
APN |
11 |
51,614,405 (GRCm39) |
splice site |
probably null |
|
|
IGL02069:Sec24a
|
APN |
11 |
51,624,761 (GRCm39) |
splice site |
probably benign |
|
|
IGL02230:Sec24a
|
APN |
11 |
51,599,861 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
IGL02617:Sec24a
|
APN |
11 |
51,603,014 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL02655:Sec24a
|
APN |
11 |
51,625,482 (GRCm39) |
missense |
probably benign |
0.43 |
|
IGL02756:Sec24a
|
APN |
11 |
51,587,560 (GRCm39) |
missense |
probably benign |
0.02 |
|
IGL03396:Sec24a
|
APN |
11 |
51,599,794 (GRCm39) |
missense |
probably benign |
0.17 |
|
R0153:Sec24a
|
UTSW |
11 |
51,591,653 (GRCm39) |
missense |
probably benign |
0.08 |
|
R0506:Sec24a
|
UTSW |
11 |
51,634,622 (GRCm39) |
missense |
probably benign |
0.03 |
|
R0625:Sec24a
|
UTSW |
11 |
51,620,281 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1084:Sec24a
|
UTSW |
11 |
51,604,408 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1166:Sec24a
|
UTSW |
11 |
51,624,294 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R1376:Sec24a
|
UTSW |
11 |
51,591,740 (GRCm39) |
splice site |
probably benign |
|
|
R1487:Sec24a
|
UTSW |
11 |
51,622,713 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R1541:Sec24a
|
UTSW |
11 |
51,634,623 (GRCm39) |
missense |
probably benign |
0.41 |
|
R1582:Sec24a
|
UTSW |
11 |
51,599,794 (GRCm39) |
missense |
probably benign |
0.17 |
|
R1643:Sec24a
|
UTSW |
11 |
51,595,212 (GRCm39) |
missense |
probably benign |
0.03 |
|
R1672:Sec24a
|
UTSW |
11 |
51,634,775 (GRCm39) |
nonsense |
probably null |
|
|
R1681:Sec24a
|
UTSW |
11 |
51,586,016 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1756:Sec24a
|
UTSW |
11 |
51,624,590 (GRCm39) |
splice site |
probably benign |
|
|
R1992:Sec24a
|
UTSW |
11 |
51,627,190 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2159:Sec24a
|
UTSW |
11 |
51,603,177 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2177:Sec24a
|
UTSW |
11 |
51,595,228 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2271:Sec24a
|
UTSW |
11 |
51,607,277 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R3414:Sec24a
|
UTSW |
11 |
51,620,285 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4349:Sec24a
|
UTSW |
11 |
51,605,976 (GRCm39) |
missense |
probably benign |
0.03 |
|
R4396:Sec24a
|
UTSW |
11 |
51,605,991 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R4629:Sec24a
|
UTSW |
11 |
51,612,640 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5061:Sec24a
|
UTSW |
11 |
51,604,359 (GRCm39) |
splice site |
probably null |
|
|
R5577:Sec24a
|
UTSW |
11 |
51,625,448 (GRCm39) |
missense |
probably benign |
0.06 |
|
R5717:Sec24a
|
UTSW |
11 |
51,598,037 (GRCm39) |
missense |
probably benign |
|
|
R5915:Sec24a
|
UTSW |
11 |
51,646,964 (GRCm39) |
missense |
probably benign |
0.11 |
|
R6175:Sec24a
|
UTSW |
11 |
51,622,718 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6341:Sec24a
|
UTSW |
11 |
51,608,603 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6461:Sec24a
|
UTSW |
11 |
51,604,373 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R6610:Sec24a
|
UTSW |
11 |
51,587,483 (GRCm39) |
missense |
probably benign |
|
|
R6632:Sec24a
|
UTSW |
11 |
51,604,476 (GRCm39) |
nonsense |
probably null |
|
|
R6907:Sec24a
|
UTSW |
11 |
51,603,103 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6969:Sec24a
|
UTSW |
11 |
51,591,643 (GRCm39) |
missense |
probably benign |
0.35 |
|
R7132:Sec24a
|
UTSW |
11 |
51,605,963 (GRCm39) |
nonsense |
probably null |
|
|
R7274:Sec24a
|
UTSW |
11 |
51,598,082 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7475:Sec24a
|
UTSW |
11 |
51,604,379 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7699:Sec24a
|
UTSW |
11 |
51,603,084 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7700:Sec24a
|
UTSW |
11 |
51,603,084 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7935:Sec24a
|
UTSW |
11 |
51,612,749 (GRCm39) |
missense |
probably benign |
0.25 |
|
R8042:Sec24a
|
UTSW |
11 |
51,595,144 (GRCm39) |
missense |
probably benign |
|
|
R8345:Sec24a
|
UTSW |
11 |
51,634,605 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9217:Sec24a
|
UTSW |
11 |
51,617,331 (GRCm39) |
missense |
probably benign |
0.14 |
|
R9501:Sec24a
|
UTSW |
11 |
51,603,122 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0025:Sec24a
|
UTSW |
11 |
51,620,374 (GRCm39) |
missense |
probably damaging |
0.99 |
|
| Predicted Primers |
PCR Primer
(F):5'- GGACCTTTAACAAAACCACTGGG -3'
(R):5'- TTGTTGTATGTGACCCCATCATG -3'
Sequencing Primer
(F):5'- ACCTTTAAGCCCAGCACTTG -3'
(R):5'- GTATGTGACCCCATCATGTAAATAC -3'
|
| Posted On |
2014-10-02 |
Incidental Mutation