Incidental Mutation 'R6655:Sec22b'
| ID |
526582 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Sec22b
|
| Ensembl Gene |
ENSMUSG00000027879 |
| Gene Name |
SEC22 homolog B, vesicle trafficking protein |
| Synonyms |
4930564D15Rik, ERS-24, Sec22l1 |
| MMRRC Submission |
044776-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R6655 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
3 |
| Chromosomal Location |
97808543-97829634 bp(+) (GRCm39) |
| Type of Mutation |
critical splice donor site (2 bp from exon) |
| DNA Base Change (assembly) |
T to A
at 97821964 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000029476
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029476]
[ENSMUST00000122288]
[ENSMUST00000130778]
|
| AlphaFold |
O08547 |
| PDB Structure |
Sec22b N-terminal domain [X-RAY DIFFRACTION]
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000029476
|
| SMART Domains |
Protein: ENSMUSP00000029476
Gene: ENSMUSG00000027879
| Domain | Start | End | E-Value | Type |
|---|
|
Longin
|
36 |
118 |
4.31e-33 |
SMART |
|
Pfam:Synaptobrevin
|
131 |
215 |
1e-18 |
PFAM |
|
| Predicted Effect |
silent
Transcript: ENSMUST00000122288
|
| SMART Domains |
Protein: ENSMUSP00000113502
Gene: ENSMUSG00000027879
| Domain | Start | End | E-Value | Type |
|---|
|
Longin
|
36 |
118 |
4.31e-33 |
SMART |
|
Pfam:Synaptobrevin
|
131 |
166 |
3.3e-9 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000130778
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.5%
- 20x: 95.8%
|
| 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 SEC22 family of vesicle trafficking proteins. It seems to complex with SNARE and it is thought to play a role in the ER-Golgi protein trafficking. This protein has strong similarity to Mus musculus and Cricetulus griseus proteins.[provided by RefSeq, Sep 2009]
PHENOTYPE: Homozygous knockout has no effect on the development or function of lymphoid cells, nor on the process of antigen cross-presentation. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 28 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| AAdacl4fm3 |
T |
A |
4: 144,431,815 (GRCm39) |
D130V |
probably damaging |
Het |
| Akr1b1 |
C |
T |
6: 34,286,939 (GRCm39) |
V206M |
possibly damaging |
Het |
| Alg3 |
T |
A |
16: 20,427,776 (GRCm39) |
Y12F |
probably benign |
Het |
| Arhgef28 |
A |
G |
13: 98,036,163 (GRCm39) |
Y1699H |
probably damaging |
Het |
| Cd109 |
A |
G |
9: 78,592,220 (GRCm39) |
D778G |
probably benign |
Het |
| Dlc1 |
A |
G |
8: 37,039,870 (GRCm39) |
V1430A |
probably damaging |
Het |
| Dscaml1 |
G |
A |
9: 45,658,235 (GRCm39) |
V1669I |
probably benign |
Het |
| Fkbp8 |
A |
G |
8: 70,985,320 (GRCm39) |
Y278C |
probably damaging |
Het |
| Gm5160 |
T |
C |
18: 14,558,187 (GRCm39) |
F88S |
possibly damaging |
Het |
| Kcnh1 |
A |
G |
1: 192,095,391 (GRCm39) |
N483S |
possibly damaging |
Het |
| Lrp2 |
A |
G |
2: 69,284,202 (GRCm39) |
S3859P |
probably benign |
Het |
| Myof |
T |
C |
19: 37,923,239 (GRCm39) |
N1351S |
probably damaging |
Het |
| Nbn |
A |
G |
4: 15,981,696 (GRCm39) |
E596G |
probably damaging |
Het |
| Neurl4 |
T |
C |
11: 69,801,742 (GRCm39) |
|
probably null |
Het |
| Nol8 |
T |
C |
13: 49,807,868 (GRCm39) |
L10P |
probably damaging |
Het |
| Or2t46 |
T |
A |
11: 58,472,036 (GRCm39) |
M122K |
probably damaging |
Het |
| Or6c213 |
T |
C |
10: 129,573,956 (GRCm39) |
T277A |
possibly damaging |
Het |
| Pex26 |
T |
C |
6: 121,167,170 (GRCm39) |
|
probably benign |
Het |
| Rab3gap2 |
T |
C |
1: 184,982,208 (GRCm39) |
M420T |
probably damaging |
Het |
| Samd9l |
C |
A |
6: 3,377,247 (GRCm39) |
V5L |
probably benign |
Het |
| Shank1 |
A |
G |
7: 43,976,644 (GRCm39) |
I581V |
unknown |
Het |
| Ssbp2 |
C |
T |
13: 91,812,268 (GRCm39) |
P105L |
probably damaging |
Het |
| Ttll9 |
T |
C |
2: 152,842,223 (GRCm39) |
|
probably null |
Het |
| Veph1 |
T |
A |
3: 66,113,034 (GRCm39) |
I257F |
possibly damaging |
Het |
| Vmn1r222 |
A |
C |
13: 23,416,886 (GRCm39) |
I109S |
probably damaging |
Het |
| Vmn2r111 |
T |
C |
17: 22,778,032 (GRCm39) |
N549S |
possibly damaging |
Het |
| Wnt16 |
T |
C |
6: 22,290,965 (GRCm39) |
V131A |
probably damaging |
Het |
| Zfp747l1 |
A |
G |
7: 126,983,512 (GRCm39) |
L530P |
possibly damaging |
Het |
|
| Other mutations in Sec22b |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02646:Sec22b
|
APN |
3 |
97,828,561 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R0335:Sec22b
|
UTSW |
3 |
97,828,572 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
R0691:Sec22b
|
UTSW |
3 |
97,819,990 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4668:Sec22b
|
UTSW |
3 |
97,828,438 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4990:Sec22b
|
UTSW |
3 |
97,828,427 (GRCm39) |
splice site |
probably null |
|
|
R5776:Sec22b
|
UTSW |
3 |
97,821,884 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7557:Sec22b
|
UTSW |
3 |
97,808,674 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8430:Sec22b
|
UTSW |
3 |
97,828,546 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9337:Sec22b
|
UTSW |
3 |
97,828,494 (GRCm39) |
missense |
probably benign |
0.06 |
|
| Predicted Primers |
PCR Primer
(F):5'- CGTGGACAGTGACTGATTAGG -3'
(R):5'- AAACAGTCACTGCTTCTGGG -3'
Sequencing Primer
(F):5'- GACTCAAGTTCTTCAGTGAAGGAAC -3'
(R):5'- CTGGGCGAGTCCTTTACACTG -3'
|
| Posted On |
2018-07-23 |
Incidental Mutation