Incidental Mutation 'R2846:Sec24d'
| ID |
251577 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Sec24d
|
| Ensembl Gene |
ENSMUSG00000039234 |
| Gene Name |
SEC24 homolog D, COPII coat complex component |
| Synonyms |
LOC383951, 2310020L09Rik |
| MMRRC Submission |
040439-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R2846 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
3 |
| Chromosomal Location |
123061104-123159290 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 123144395 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 624
(D624G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000035823
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000047923]
|
| AlphaFold |
Q6NXL1 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000047923
AA Change: D624G
PolyPhen 2
Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000035823
Gene: ENSMUSG00000039234
AA Change: D624G
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
46 |
71 |
N/A |
INTRINSIC |
|
low complexity region
|
75 |
87 |
N/A |
INTRINSIC |
|
low complexity region
|
136 |
160 |
N/A |
INTRINSIC |
|
low complexity region
|
197 |
222 |
N/A |
INTRINSIC |
|
low complexity region
|
238 |
256 |
N/A |
INTRINSIC |
|
Pfam:zf-Sec23_Sec24
|
360 |
398 |
1.8e-16 |
PFAM |
|
Pfam:Sec23_trunk
|
437 |
681 |
3.6e-88 |
PFAM |
|
Pfam:Sec23_BS
|
686 |
770 |
2e-20 |
PFAM |
|
Pfam:Sec23_helical
|
783 |
884 |
1e-27 |
PFAM |
|
Pfam:Gelsolin
|
899 |
974 |
4.2e-12 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000196631
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000197291
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000200309
|
| 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 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. This gene product is implicated in the shaping of the vesicle, and also in cargo selection and concentration. Mutations in this gene have been associated with Cole-Carpenter syndrome, a disorder affecting bone formation, resulting in craniofacial malformations and bones that break easily. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Dec 2015]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit early embryonic lethality. A hypomorphic gene trap allele results in lethality during organogenesis. [provided by MGI curators]
|
| Allele List at MGI |
All alleles(5) : Gene trapped(5) |
| Other mutations in this stock |
Total: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Atg4a |
G |
A |
X: 139,893,589 (GRCm39) |
E106K |
probably benign |
Het |
| Bahd1 |
G |
A |
2: 118,753,004 (GRCm39) |
R757H |
probably damaging |
Het |
| Cdnf |
T |
A |
2: 3,514,165 (GRCm39) |
M1K |
probably null |
Het |
| Ddx4 |
T |
A |
13: 112,741,146 (GRCm39) |
K496M |
probably damaging |
Het |
| Dlg1 |
T |
C |
16: 31,682,015 (GRCm39) |
S779P |
probably damaging |
Het |
| Dtna |
T |
A |
18: 23,784,560 (GRCm39) |
|
probably null |
Het |
| Fhad1 |
G |
T |
4: 141,632,279 (GRCm39) |
Q1287K |
probably benign |
Het |
| Gal3st2c |
A |
T |
1: 93,924,122 (GRCm39) |
Q8L |
possibly damaging |
Het |
| Hsd3b1 |
T |
C |
3: 98,760,094 (GRCm39) |
E299G |
probably damaging |
Het |
| Hydin |
T |
C |
8: 111,245,746 (GRCm39) |
V2153A |
probably benign |
Het |
| Irs4 |
C |
A |
X: 140,507,336 (GRCm39) |
G287W |
probably damaging |
Het |
| Kif21a |
T |
C |
15: 90,818,667 (GRCm39) |
I1570V |
probably benign |
Het |
| Kremen1 |
GG |
GGGCG |
11: 5,151,793 (GRCm39) |
|
probably benign |
Het |
| Mark2 |
T |
C |
19: 7,264,227 (GRCm39) |
E116G |
probably damaging |
Het |
| Mfsd13a |
C |
T |
19: 46,360,431 (GRCm39) |
R328C |
probably damaging |
Het |
| Mindy4 |
T |
C |
6: 55,255,085 (GRCm39) |
V521A |
probably damaging |
Het |
| Or10al3 |
T |
C |
17: 38,011,714 (GRCm39) |
I51T |
probably damaging |
Het |
| Or1e25 |
A |
T |
11: 73,494,209 (GRCm39) |
T268S |
probably benign |
Het |
| Pdgfrb |
C |
T |
18: 61,197,088 (GRCm39) |
P175S |
probably benign |
Het |
| Pign |
C |
A |
1: 105,585,521 (GRCm39) |
L9F |
possibly damaging |
Het |
| Plekha1 |
G |
T |
7: 130,510,095 (GRCm39) |
W280C |
probably damaging |
Het |
| Ppfia3 |
C |
A |
7: 45,005,852 (GRCm39) |
R348L |
probably damaging |
Het |
| Prr12 |
G |
C |
7: 44,695,436 (GRCm39) |
S1343R |
unknown |
Het |
| Psmd13 |
C |
A |
7: 140,477,653 (GRCm39) |
|
probably benign |
Het |
| Qpct |
A |
G |
17: 79,378,171 (GRCm39) |
T114A |
probably damaging |
Het |
| Shank2 |
A |
G |
7: 143,623,792 (GRCm39) |
Y259C |
probably damaging |
Het |
| Slc15a4 |
A |
G |
5: 127,681,600 (GRCm39) |
|
probably null |
Het |
| Smarcb1 |
C |
A |
10: 75,733,375 (GRCm39) |
R332L |
probably damaging |
Het |
| Ssh3 |
T |
C |
19: 4,315,324 (GRCm39) |
Y338C |
probably damaging |
Het |
| St18 |
T |
A |
1: 6,915,811 (GRCm39) |
C819S |
probably damaging |
Het |
| Tas2r124 |
A |
G |
6: 132,732,230 (GRCm39) |
N180D |
possibly damaging |
Het |
| Tgfbr3l |
A |
G |
8: 4,299,280 (GRCm39) |
D49G |
probably damaging |
Het |
| Tmem204 |
G |
A |
17: 25,299,307 (GRCm39) |
H71Y |
probably benign |
Het |
| Vmn1r212 |
A |
G |
13: 23,068,262 (GRCm39) |
S24P |
probably damaging |
Het |
| Vmn2r6 |
A |
G |
3: 64,464,211 (GRCm39) |
S208P |
possibly damaging |
Het |
| Zbtb8os |
A |
T |
4: 129,235,309 (GRCm39) |
E54D |
probably damaging |
Het |
| Zmiz1 |
A |
G |
14: 25,646,099 (GRCm39) |
S259G |
probably benign |
Het |
|
| Other mutations in Sec24d |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01420:Sec24d
|
APN |
3 |
123,143,658 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01621:Sec24d
|
APN |
3 |
123,087,807 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
IGL01866:Sec24d
|
APN |
3 |
123,087,244 (GRCm39) |
nonsense |
probably null |
|
|
IGL02064:Sec24d
|
APN |
3 |
123,137,463 (GRCm39) |
splice site |
probably benign |
|
|
IGL02125:Sec24d
|
APN |
3 |
123,152,607 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02173:Sec24d
|
APN |
3 |
123,147,330 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03239:Sec24d
|
APN |
3 |
123,130,138 (GRCm39) |
missense |
probably benign |
0.00 |
|
Scanty
|
UTSW |
3 |
123,148,596 (GRCm39) |
missense |
probably damaging |
1.00 |
|
3-1:Sec24d
|
UTSW |
3 |
123,147,279 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
PIT4531001:Sec24d
|
UTSW |
3 |
123,136,827 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0008:Sec24d
|
UTSW |
3 |
123,144,525 (GRCm39) |
splice site |
probably benign |
|
|
R0838:Sec24d
|
UTSW |
3 |
123,099,485 (GRCm39) |
missense |
probably benign |
0.08 |
|
R1775:Sec24d
|
UTSW |
3 |
123,130,166 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1895:Sec24d
|
UTSW |
3 |
123,147,043 (GRCm39) |
missense |
probably benign |
0.04 |
|
R1946:Sec24d
|
UTSW |
3 |
123,147,043 (GRCm39) |
missense |
probably benign |
0.04 |
|
R2238:Sec24d
|
UTSW |
3 |
123,143,543 (GRCm39) |
splice site |
probably null |
|
|
R2504:Sec24d
|
UTSW |
3 |
123,147,255 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R2895:Sec24d
|
UTSW |
3 |
123,136,800 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3428:Sec24d
|
UTSW |
3 |
123,137,572 (GRCm39) |
splice site |
probably benign |
|
|
R4573:Sec24d
|
UTSW |
3 |
123,152,519 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4668:Sec24d
|
UTSW |
3 |
123,149,423 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4706:Sec24d
|
UTSW |
3 |
123,149,427 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R4896:Sec24d
|
UTSW |
3 |
123,148,596 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4982:Sec24d
|
UTSW |
3 |
123,093,255 (GRCm39) |
missense |
probably benign |
0.29 |
|
R5030:Sec24d
|
UTSW |
3 |
123,152,550 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5041:Sec24d
|
UTSW |
3 |
123,087,880 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R5078:Sec24d
|
UTSW |
3 |
123,084,201 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5108:Sec24d
|
UTSW |
3 |
123,099,434 (GRCm39) |
splice site |
probably null |
|
|
R5174:Sec24d
|
UTSW |
3 |
123,158,575 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5661:Sec24d
|
UTSW |
3 |
123,136,791 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R5661:Sec24d
|
UTSW |
3 |
123,136,734 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5775:Sec24d
|
UTSW |
3 |
123,084,109 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5859:Sec24d
|
UTSW |
3 |
123,072,961 (GRCm39) |
unclassified |
probably benign |
|
|
R5944:Sec24d
|
UTSW |
3 |
123,087,230 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6053:Sec24d
|
UTSW |
3 |
123,072,871 (GRCm39) |
nonsense |
probably null |
|
|
R6515:Sec24d
|
UTSW |
3 |
123,136,719 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R6552:Sec24d
|
UTSW |
3 |
123,084,201 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6557:Sec24d
|
UTSW |
3 |
123,136,736 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6593:Sec24d
|
UTSW |
3 |
123,147,061 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6594:Sec24d
|
UTSW |
3 |
123,087,412 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6842:Sec24d
|
UTSW |
3 |
123,136,868 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7072:Sec24d
|
UTSW |
3 |
123,124,000 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7481:Sec24d
|
UTSW |
3 |
123,144,412 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7554:Sec24d
|
UTSW |
3 |
123,149,423 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8270:Sec24d
|
UTSW |
3 |
123,099,535 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R8481:Sec24d
|
UTSW |
3 |
123,147,073 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8713:Sec24d
|
UTSW |
3 |
123,137,541 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8872:Sec24d
|
UTSW |
3 |
123,148,585 (GRCm39) |
splice site |
probably benign |
|
|
R8922:Sec24d
|
UTSW |
3 |
123,144,488 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8974:Sec24d
|
UTSW |
3 |
123,099,498 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9015:Sec24d
|
UTSW |
3 |
123,121,287 (GRCm39) |
missense |
probably benign |
0.43 |
|
R9050:Sec24d
|
UTSW |
3 |
123,144,374 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9065:Sec24d
|
UTSW |
3 |
123,149,452 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9128:Sec24d
|
UTSW |
3 |
123,087,810 (GRCm39) |
missense |
probably benign |
|
|
R9447:Sec24d
|
UTSW |
3 |
123,084,162 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9701:Sec24d
|
UTSW |
3 |
123,063,321 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9758:Sec24d
|
UTSW |
3 |
123,136,803 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGCCCAGTCTACCTATGCAG -3'
(R):5'- CCTTGCCCATCTGAAGCAAC -3'
Sequencing Primer
(F):5'- CCTATGCAGAGGGAAAAAATTC -3'
(R):5'- GTGTGCACACATATACTCAAGC -3'
|
| Posted On |
2014-12-04 |
Incidental Mutation