Incidental Mutation 'R5614:Sec24c'
| ID |
438160 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Sec24c
|
| Ensembl Gene |
ENSMUSG00000039367 |
| Gene Name |
SEC24 homolog C, COPII coat complex component |
| Synonyms |
2610204K03Rik |
| MMRRC Submission |
043275-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R5614 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
14 |
| Chromosomal Location |
20724376-20744920 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 20732806 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Glutamic Acid
at position 123
(V123E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000152917
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000048657]
[ENSMUST00000223751]
[ENSMUST00000224492]
[ENSMUST00000224754]
[ENSMUST00000224876]
[ENSMUST00000225108]
|
| AlphaFold |
G3X972 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000048657
AA Change: V123E
PolyPhen 2
Score 0.276 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000045955
Gene: ENSMUSG00000039367
AA Change: V123E
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
28 |
47 |
N/A |
INTRINSIC |
|
low complexity region
|
60 |
74 |
N/A |
INTRINSIC |
|
low complexity region
|
183 |
194 |
N/A |
INTRINSIC |
|
low complexity region
|
201 |
212 |
N/A |
INTRINSIC |
|
low complexity region
|
256 |
279 |
N/A |
INTRINSIC |
|
low complexity region
|
311 |
326 |
N/A |
INTRINSIC |
|
Pfam:zf-Sec23_Sec24
|
424 |
462 |
8.2e-17 |
PFAM |
|
Pfam:Sec23_trunk
|
501 |
745 |
7.3e-94 |
PFAM |
|
Pfam:Sec23_BS
|
750 |
834 |
8e-20 |
PFAM |
|
Pfam:Sec23_helical
|
847 |
948 |
2.3e-30 |
PFAM |
|
Pfam:Gelsolin
|
963 |
1038 |
1.3e-13 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000180987
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000223751
AA Change: V123E
PolyPhen 2
Score 0.092 (Sensitivity: 0.93; Specificity: 0.85)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000224061
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000224492
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000224754
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000224876
AA Change: C78S
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000225108
AA Change: V123E
PolyPhen 2
Score 0.922 (Sensitivity: 0.81; Specificity: 0.94)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000228545
|
| Meta Mutation Damage Score |
0.0712 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.6%
- 20x: 96.2%
|
| Validation Efficiency |
100% (62/62) |
| 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 SEC24 subfamily of the SEC23/SEC24 family, which is involved in vesicle trafficking. The encoded protein has similarity to yeast Sec24p component of COPII. COPII is the coat protein complex responsible for vesicle budding from the ER. The product of this gene may play a role in shaping the vesicle, as well as in cargo selection and concentration. Alternatively spliced transcript variants encoding the same protein have been identified. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a null allele display complete embryonic lethality between implantation and placentation. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca1 |
A |
G |
4: 53,046,132 (GRCm39) |
V1712A |
probably damaging |
Het |
| Ankmy2 |
T |
C |
12: 36,243,783 (GRCm39) |
S333P |
probably damaging |
Het |
| Arfrp1 |
A |
G |
2: 181,001,236 (GRCm39) |
|
probably benign |
Het |
| Atp13a2 |
A |
G |
4: 140,719,493 (GRCm39) |
T21A |
probably benign |
Het |
| Bud23 |
C |
A |
5: 135,087,966 (GRCm39) |
A152S |
probably benign |
Het |
| Cant1 |
T |
C |
11: 118,299,569 (GRCm39) |
D260G |
probably benign |
Het |
| Ces1b |
T |
C |
8: 93,794,836 (GRCm39) |
I254M |
probably benign |
Het |
| Ces1d |
T |
C |
8: 93,902,832 (GRCm39) |
T375A |
probably benign |
Het |
| Cfap54 |
A |
G |
10: 92,880,911 (GRCm39) |
L384P |
probably damaging |
Het |
| Chrne |
C |
T |
11: 70,505,879 (GRCm39) |
V469I |
possibly damaging |
Het |
| Clspn |
A |
G |
4: 126,474,755 (GRCm39) |
E968G |
probably damaging |
Het |
| Col5a3 |
A |
G |
9: 20,694,772 (GRCm39) |
|
probably benign |
Het |
| Dtx4 |
T |
C |
19: 12,459,547 (GRCm39) |
Y419C |
probably damaging |
Het |
| Fam171b |
T |
A |
2: 83,643,217 (GRCm39) |
I42N |
probably damaging |
Het |
| Fam43a |
T |
C |
16: 30,420,490 (GRCm39) |
I358T |
possibly damaging |
Het |
| Fasn |
T |
C |
11: 120,704,154 (GRCm39) |
S1422G |
probably benign |
Het |
| Fig4 |
A |
T |
10: 41,148,981 (GRCm39) |
V157E |
probably damaging |
Het |
| Fus |
T |
C |
7: 127,573,543 (GRCm39) |
|
probably benign |
Het |
| Hmcn2 |
G |
T |
2: 31,318,315 (GRCm39) |
V3887F |
probably damaging |
Het |
| Hmgcll1 |
A |
G |
9: 75,988,675 (GRCm39) |
Y182C |
probably damaging |
Het |
| Hook2 |
T |
A |
8: 85,729,137 (GRCm39) |
I585N |
probably damaging |
Het |
| Iars2 |
T |
C |
1: 185,021,705 (GRCm39) |
T866A |
probably benign |
Het |
| Iqca1l |
G |
A |
5: 24,755,140 (GRCm39) |
A330V |
probably benign |
Het |
| Lrit1 |
T |
A |
14: 36,783,911 (GRCm39) |
M413K |
probably benign |
Het |
| Myl9 |
G |
A |
2: 156,623,083 (GRCm39) |
|
probably benign |
Het |
| Nelfa |
A |
T |
5: 34,077,844 (GRCm39) |
L179Q |
probably damaging |
Het |
| Nod2 |
A |
T |
8: 89,390,824 (GRCm39) |
D355V |
probably damaging |
Het |
| Npbwr1 |
A |
T |
1: 5,987,030 (GRCm39) |
S161R |
probably damaging |
Het |
| Nxpe2 |
A |
T |
9: 48,234,401 (GRCm39) |
F289I |
probably benign |
Het |
| Odf2 |
A |
G |
2: 29,810,879 (GRCm39) |
I538M |
probably damaging |
Het |
| Osbpl6 |
T |
A |
2: 76,398,453 (GRCm39) |
V379E |
probably damaging |
Het |
| Pkhd1 |
A |
G |
1: 20,143,750 (GRCm39) |
C3859R |
possibly damaging |
Het |
| Rgs1 |
G |
T |
1: 144,121,995 (GRCm39) |
T99N |
probably benign |
Het |
| Rnf6 |
T |
C |
5: 146,154,910 (GRCm39) |
|
probably null |
Het |
| Rtp1 |
C |
A |
16: 23,249,940 (GRCm39) |
Q102K |
possibly damaging |
Het |
| Serpini2 |
T |
C |
3: 75,165,014 (GRCm39) |
|
probably benign |
Het |
| Stxbp5 |
A |
T |
10: 9,636,638 (GRCm39) |
|
probably benign |
Het |
| Tecta |
A |
G |
9: 42,250,351 (GRCm39) |
S1809P |
probably damaging |
Het |
| Tgfb2 |
T |
A |
1: 186,357,710 (GRCm39) |
I394F |
probably benign |
Het |
| Thg1l |
T |
C |
11: 45,841,054 (GRCm39) |
Y175C |
possibly damaging |
Het |
| Tmem67 |
C |
A |
4: 12,061,755 (GRCm39) |
K572N |
possibly damaging |
Het |
| Tollip |
T |
C |
7: 141,445,825 (GRCm39) |
T19A |
probably damaging |
Het |
| Ttn |
A |
G |
2: 76,542,451 (GRCm39) |
Y25185H |
probably damaging |
Het |
| Vgll2 |
A |
T |
10: 51,901,318 (GRCm39) |
R83* |
probably null |
Het |
| Wfdc8 |
G |
T |
2: 164,445,123 (GRCm39) |
A164E |
probably damaging |
Het |
| Ylpm1 |
T |
C |
12: 85,111,718 (GRCm39) |
|
probably benign |
Het |
| Zfp326 |
T |
A |
5: 106,036,361 (GRCm39) |
S91T |
probably damaging |
Het |
| Zfp638 |
T |
C |
6: 83,906,623 (GRCm39) |
F263L |
probably damaging |
Het |
| Zfp800 |
G |
A |
6: 28,243,135 (GRCm39) |
T610I |
probably damaging |
Het |
| Zmym4 |
A |
G |
4: 126,804,729 (GRCm39) |
F475L |
possibly damaging |
Het |
|
| Other mutations in Sec24c |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00392:Sec24c
|
APN |
14 |
20,743,271 (GRCm39) |
missense |
probably benign |
0.03 |
|
IGL00574:Sec24c
|
APN |
14 |
20,742,463 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01514:Sec24c
|
APN |
14 |
20,732,839 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
IGL01924:Sec24c
|
APN |
14 |
20,739,757 (GRCm39) |
missense |
probably damaging |
0.96 |
|
IGL02094:Sec24c
|
APN |
14 |
20,738,470 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02677:Sec24c
|
APN |
14 |
20,739,710 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL02871:Sec24c
|
APN |
14 |
20,742,950 (GRCm39) |
missense |
probably benign |
|
|
Kahuna
|
UTSW |
14 |
20,740,841 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0010:Sec24c
|
UTSW |
14 |
20,739,329 (GRCm39) |
unclassified |
probably benign |
|
|
R0335:Sec24c
|
UTSW |
14 |
20,738,783 (GRCm39) |
splice site |
probably null |
|
|
R0487:Sec24c
|
UTSW |
14 |
20,733,467 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0609:Sec24c
|
UTSW |
14 |
20,737,016 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0626:Sec24c
|
UTSW |
14 |
20,738,505 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0734:Sec24c
|
UTSW |
14 |
20,743,813 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0854:Sec24c
|
UTSW |
14 |
20,739,408 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1036:Sec24c
|
UTSW |
14 |
20,742,965 (GRCm39) |
missense |
probably benign |
0.14 |
|
R1405:Sec24c
|
UTSW |
14 |
20,742,593 (GRCm39) |
splice site |
probably null |
|
|
R1405:Sec24c
|
UTSW |
14 |
20,742,593 (GRCm39) |
splice site |
probably null |
|
|
R1702:Sec24c
|
UTSW |
14 |
20,736,641 (GRCm39) |
missense |
probably null |
|
|
R1765:Sec24c
|
UTSW |
14 |
20,738,922 (GRCm39) |
unclassified |
probably benign |
|
|
R1913:Sec24c
|
UTSW |
14 |
20,739,179 (GRCm39) |
missense |
probably benign |
0.06 |
|
R1920:Sec24c
|
UTSW |
14 |
20,736,955 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2084:Sec24c
|
UTSW |
14 |
20,741,347 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3778:Sec24c
|
UTSW |
14 |
20,733,375 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R4383:Sec24c
|
UTSW |
14 |
20,740,841 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4385:Sec24c
|
UTSW |
14 |
20,740,841 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4659:Sec24c
|
UTSW |
14 |
20,733,212 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4798:Sec24c
|
UTSW |
14 |
20,743,780 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4872:Sec24c
|
UTSW |
14 |
20,743,813 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5210:Sec24c
|
UTSW |
14 |
20,741,872 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5345:Sec24c
|
UTSW |
14 |
20,743,288 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5610:Sec24c
|
UTSW |
14 |
20,741,893 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5646:Sec24c
|
UTSW |
14 |
20,729,641 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6460:Sec24c
|
UTSW |
14 |
20,740,868 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7181:Sec24c
|
UTSW |
14 |
20,739,401 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8228:Sec24c
|
UTSW |
14 |
20,739,975 (GRCm39) |
missense |
probably benign |
0.05 |
|
R8512:Sec24c
|
UTSW |
14 |
20,740,920 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R8679:Sec24c
|
UTSW |
14 |
20,742,927 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R9340:Sec24c
|
UTSW |
14 |
20,729,598 (GRCm39) |
missense |
probably benign |
0.00 |
|
RF010:Sec24c
|
UTSW |
14 |
20,738,783 (GRCm39) |
splice site |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- ATGTATGAAGCTCTCAGCCC -3'
(R):5'- TGCATCTGGGGTTCAAAGG -3'
Sequencing Primer
(F):5'- CCGGATGAACCTAAATGCCGG -3'
(R):5'- CATCTGGGGTTCAAAGGTGAAAG -3'
|
| Posted On |
2016-10-26 |
Incidental Mutation