Incidental Mutation 'R6442:Sec24b'
| ID |
519048 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Sec24b
|
| Ensembl Gene |
ENSMUSG00000001052 |
| Gene Name |
SEC24 homolog B, COPII coat complex component |
| Synonyms |
SEC24 |
| MMRRC Submission |
044580-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.799)
|
| Stock # |
R6442 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
129776408-129855202 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 129790350 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Serine
at position 462
(L462S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000132861
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000001079]
[ENSMUST00000165873]
|
| AlphaFold |
Q80ZX0 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000001079
AA Change: L725S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000001079
Gene: ENSMUSG00000001052
AA Change: L725S
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
14 |
N/A |
INTRINSIC |
|
low complexity region
|
127 |
143 |
N/A |
INTRINSIC |
|
low complexity region
|
229 |
254 |
N/A |
INTRINSIC |
|
low complexity region
|
316 |
333 |
N/A |
INTRINSIC |
|
low complexity region
|
351 |
362 |
N/A |
INTRINSIC |
|
low complexity region
|
363 |
373 |
N/A |
INTRINSIC |
|
low complexity region
|
378 |
386 |
N/A |
INTRINSIC |
|
low complexity region
|
419 |
444 |
N/A |
INTRINSIC |
|
low complexity region
|
450 |
473 |
N/A |
INTRINSIC |
|
low complexity region
|
486 |
505 |
N/A |
INTRINSIC |
|
low complexity region
|
555 |
568 |
N/A |
INTRINSIC |
|
Pfam:zf-Sec23_Sec24
|
585 |
622 |
4.1e-17 |
PFAM |
|
Pfam:Sec23_trunk
|
658 |
897 |
2.4e-87 |
PFAM |
|
Pfam:Sec23_BS
|
902 |
986 |
3.4e-23 |
PFAM |
|
Pfam:Sec23_helical
|
999 |
1099 |
8.7e-31 |
PFAM |
|
Pfam:Gelsolin
|
1122 |
1197 |
4.9e-13 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000165873
AA Change: L462S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000132861
Gene: ENSMUSG00000001052
AA Change: L462S
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
1 |
26 |
N/A |
INTRINSIC |
|
low complexity region
|
88 |
105 |
N/A |
INTRINSIC |
|
low complexity region
|
115 |
123 |
N/A |
INTRINSIC |
|
low complexity region
|
156 |
181 |
N/A |
INTRINSIC |
|
low complexity region
|
187 |
210 |
N/A |
INTRINSIC |
|
low complexity region
|
223 |
242 |
N/A |
INTRINSIC |
|
low complexity region
|
292 |
305 |
N/A |
INTRINSIC |
|
Pfam:zf-Sec23_Sec24
|
321 |
359 |
2.5e-18 |
PFAM |
|
Pfam:Sec23_trunk
|
395 |
634 |
1.6e-87 |
PFAM |
|
Pfam:Sec23_BS
|
639 |
723 |
2.2e-23 |
PFAM |
|
| Meta Mutation Damage Score |
0.9461 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.0%
- 20x: 93.9%
|
| Validation Efficiency |
100% (36/36) |
| 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 is thought to be a cargo-binding component of the COPII vesicle, and is thought to be involved in the transport of secretory proteins from the endoplasmic reticulum to the Golgi apparatus. Mutations in this gene have been associated with neural tube defects, and are thought to be a result of a disruption in interactions with the protein encoded by the VANGL planar cell polarity protein 2 (VANGL2) gene. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Dec 2015]
PHENOTYPE: Mice homozygous for an ENU induced mutation exhibit craniorachischisis, abnormal embryo shape, omphalocele, disoriented hair cells, and failure of eyelid fusion. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Atp9a |
T |
C |
2: 168,491,481 (GRCm39) |
T695A |
probably benign |
Het |
| Btla |
A |
G |
16: 45,044,821 (GRCm39) |
N36D |
probably benign |
Het |
| Btla |
T |
C |
16: 45,070,713 (GRCm39) |
V224A |
possibly damaging |
Het |
| Cep126 |
T |
C |
9: 8,100,564 (GRCm39) |
N657D |
probably benign |
Het |
| Cops3 |
T |
A |
11: 59,718,780 (GRCm39) |
K171N |
probably benign |
Het |
| Crocc2 |
A |
G |
1: 93,112,775 (GRCm39) |
R193G |
probably benign |
Het |
| Dis3l |
T |
C |
9: 64,214,837 (GRCm39) |
I911V |
probably benign |
Het |
| Dpp6 |
G |
A |
5: 27,923,507 (GRCm39) |
|
probably null |
Het |
| Efcab5 |
A |
T |
11: 76,996,260 (GRCm39) |
Y1100* |
probably null |
Het |
| Fcgbpl1 |
C |
T |
7: 27,843,611 (GRCm39) |
T833I |
possibly damaging |
Het |
| Galnt10 |
A |
G |
11: 57,656,448 (GRCm39) |
T211A |
probably benign |
Het |
| Gdf9 |
A |
G |
11: 53,324,515 (GRCm39) |
T95A |
probably benign |
Het |
| Gm826 |
T |
A |
2: 160,169,328 (GRCm39) |
|
probably benign |
Het |
| Hsd17b6 |
C |
T |
10: 127,829,636 (GRCm39) |
|
probably null |
Het |
| Hyal4 |
A |
G |
6: 24,765,849 (GRCm39) |
N401S |
probably benign |
Het |
| Itga8 |
C |
T |
2: 12,234,954 (GRCm39) |
V435I |
probably benign |
Het |
| Nr1h5 |
G |
A |
3: 102,848,427 (GRCm39) |
P418L |
probably damaging |
Het |
| Or3a4 |
G |
A |
11: 73,945,505 (GRCm39) |
R27W |
probably benign |
Het |
| Or4f15 |
G |
A |
2: 111,813,874 (GRCm39) |
P182S |
probably damaging |
Het |
| Or4n4 |
T |
G |
14: 50,518,826 (GRCm39) |
K295Q |
probably damaging |
Het |
| Or6c214 |
C |
A |
10: 129,591,277 (GRCm39) |
G14V |
probably damaging |
Het |
| Or9i14 |
T |
C |
19: 13,792,992 (GRCm39) |
|
probably benign |
Het |
| Prdm11 |
G |
A |
2: 92,805,990 (GRCm39) |
A320V |
probably benign |
Het |
| Ptpn5 |
T |
C |
7: 46,732,831 (GRCm39) |
|
probably null |
Het |
| Reln |
T |
A |
5: 22,137,774 (GRCm39) |
I2473L |
probably benign |
Het |
| Rmnd5a |
A |
T |
6: 71,371,659 (GRCm39) |
C180* |
probably null |
Het |
| Rsrc1 |
C |
T |
3: 66,901,982 (GRCm39) |
P44L |
unknown |
Het |
| Sapcd2 |
T |
A |
2: 25,266,134 (GRCm39) |
|
probably benign |
Het |
| Slc26a9 |
A |
T |
1: 131,686,555 (GRCm39) |
Y425F |
possibly damaging |
Het |
| Sult1b1 |
T |
C |
5: 87,682,912 (GRCm39) |
D11G |
probably benign |
Het |
| Tgs1 |
T |
A |
4: 3,604,760 (GRCm39) |
Y727* |
probably null |
Het |
| Tmem80 |
T |
C |
7: 140,915,839 (GRCm39) |
V83A |
probably benign |
Het |
| Ttn |
T |
C |
2: 76,551,978 (GRCm39) |
T31220A |
probably benign |
Het |
| Usp46 |
A |
T |
5: 74,177,377 (GRCm39) |
D167E |
probably benign |
Het |
| Vmn2r67 |
T |
A |
7: 84,805,046 (GRCm39) |
D22V |
possibly damaging |
Het |
| Zswim5 |
C |
A |
4: 116,808,202 (GRCm39) |
P262Q |
probably damaging |
Het |
|
| Other mutations in Sec24b |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00984:Sec24b
|
APN |
3 |
129,814,295 (GRCm39) |
intron |
probably benign |
|
|
IGL01137:Sec24b
|
APN |
3 |
129,801,093 (GRCm39) |
missense |
probably benign |
0.02 |
|
IGL01370:Sec24b
|
APN |
3 |
129,801,253 (GRCm39) |
splice site |
probably benign |
|
|
IGL01931:Sec24b
|
APN |
3 |
129,803,448 (GRCm39) |
missense |
probably benign |
0.00 |
|
PIT4696001:Sec24b
|
UTSW |
3 |
129,788,040 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0193:Sec24b
|
UTSW |
3 |
129,782,633 (GRCm39) |
missense |
probably null |
|
|
R0194:Sec24b
|
UTSW |
3 |
129,777,814 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0403:Sec24b
|
UTSW |
3 |
129,793,183 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0403:Sec24b
|
UTSW |
3 |
129,783,325 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R0576:Sec24b
|
UTSW |
3 |
129,834,985 (GRCm39) |
missense |
probably benign |
0.11 |
|
R0583:Sec24b
|
UTSW |
3 |
129,834,960 (GRCm39) |
nonsense |
probably null |
|
|
R0963:Sec24b
|
UTSW |
3 |
129,834,554 (GRCm39) |
missense |
probably benign |
0.02 |
|
R0967:Sec24b
|
UTSW |
3 |
129,790,431 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1344:Sec24b
|
UTSW |
3 |
129,801,072 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1418:Sec24b
|
UTSW |
3 |
129,801,072 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1594:Sec24b
|
UTSW |
3 |
129,785,000 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1716:Sec24b
|
UTSW |
3 |
129,834,665 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R1938:Sec24b
|
UTSW |
3 |
129,785,010 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R2020:Sec24b
|
UTSW |
3 |
129,781,377 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2407:Sec24b
|
UTSW |
3 |
129,795,965 (GRCm39) |
missense |
probably benign |
0.02 |
|
R2415:Sec24b
|
UTSW |
3 |
129,789,729 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3121:Sec24b
|
UTSW |
3 |
129,795,953 (GRCm39) |
critical splice donor site |
probably null |
|
|
R3729:Sec24b
|
UTSW |
3 |
129,827,482 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R3731:Sec24b
|
UTSW |
3 |
129,827,482 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R3789:Sec24b
|
UTSW |
3 |
129,814,276 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4229:Sec24b
|
UTSW |
3 |
129,834,368 (GRCm39) |
missense |
probably benign |
0.24 |
|
R4230:Sec24b
|
UTSW |
3 |
129,834,368 (GRCm39) |
missense |
probably benign |
0.24 |
|
R4617:Sec24b
|
UTSW |
3 |
129,834,413 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R4856:Sec24b
|
UTSW |
3 |
129,777,619 (GRCm39) |
missense |
probably benign |
0.07 |
|
R4886:Sec24b
|
UTSW |
3 |
129,777,619 (GRCm39) |
missense |
probably benign |
0.07 |
|
R4913:Sec24b
|
UTSW |
3 |
129,796,028 (GRCm39) |
missense |
probably benign |
0.07 |
|
R5510:Sec24b
|
UTSW |
3 |
129,834,544 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5601:Sec24b
|
UTSW |
3 |
129,834,483 (GRCm39) |
small insertion |
probably benign |
|
|
R6167:Sec24b
|
UTSW |
3 |
129,782,550 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R6314:Sec24b
|
UTSW |
3 |
129,800,894 (GRCm39) |
splice site |
probably null |
|
|
R6512:Sec24b
|
UTSW |
3 |
129,834,946 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6743:Sec24b
|
UTSW |
3 |
129,834,881 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7081:Sec24b
|
UTSW |
3 |
129,781,391 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7179:Sec24b
|
UTSW |
3 |
129,782,595 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7214:Sec24b
|
UTSW |
3 |
129,827,509 (GRCm39) |
missense |
probably benign |
0.19 |
|
R7332:Sec24b
|
UTSW |
3 |
129,835,042 (GRCm39) |
missense |
probably benign |
0.10 |
|
R7414:Sec24b
|
UTSW |
3 |
129,803,514 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7599:Sec24b
|
UTSW |
3 |
129,834,460 (GRCm39) |
small insertion |
probably benign |
|
|
R7774:Sec24b
|
UTSW |
3 |
129,777,846 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R7895:Sec24b
|
UTSW |
3 |
129,789,598 (GRCm39) |
missense |
probably benign |
0.13 |
|
R8146:Sec24b
|
UTSW |
3 |
129,789,573 (GRCm39) |
nonsense |
probably null |
|
|
R8217:Sec24b
|
UTSW |
3 |
129,834,599 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R8344:Sec24b
|
UTSW |
3 |
129,798,650 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R8525:Sec24b
|
UTSW |
3 |
129,805,467 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8699:Sec24b
|
UTSW |
3 |
129,798,653 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8783:Sec24b
|
UTSW |
3 |
129,783,342 (GRCm39) |
missense |
probably benign |
|
|
R8929:Sec24b
|
UTSW |
3 |
129,803,507 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R8967:Sec24b
|
UTSW |
3 |
129,785,084 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9332:Sec24b
|
UTSW |
3 |
129,801,220 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9355:Sec24b
|
UTSW |
3 |
129,787,489 (GRCm39) |
missense |
possibly damaging |
0.60 |
|
R9660:Sec24b
|
UTSW |
3 |
129,790,422 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9728:Sec24b
|
UTSW |
3 |
129,790,422 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9781:Sec24b
|
UTSW |
3 |
129,789,742 (GRCm39) |
missense |
probably damaging |
0.98 |
|
X0065:Sec24b
|
UTSW |
3 |
129,790,004 (GRCm39) |
missense |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- CCATGCATATTGGAATTCTGCCTTAG -3'
(R):5'- AGCTACTCTGCGGCCTAATG -3'
Sequencing Primer
(F):5'- TCCATATGCTTCATATATACACATGC -3'
(R):5'- TACTCTGCGGCCTAATGTGCTG -3'
|
| Posted On |
2018-05-24 |
Incidental Mutation