Incidental Mutation 'IGL03105:Sec23b'
ID |
418938 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Sec23b
|
Ensembl Gene |
ENSMUSG00000027429 |
Gene Name |
SEC23 homolog B, COPII coat complex component |
Synonyms |
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
IGL03105
|
Quality Score |
|
Status
|
|
Chromosome |
2 |
Chromosomal Location |
144398165-144432673 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 144423940 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Tryptophan
at position 530
(R530W)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000028916
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028916]
|
AlphaFold |
Q9D662 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000028916
AA Change: R530W
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000028916 Gene: ENSMUSG00000027429 AA Change: R530W
Domain | Start | End | E-Value | Type |
Pfam:zf-Sec23_Sec24
|
58 |
98 |
4.3e-17 |
PFAM |
Pfam:Sec23_trunk
|
126 |
392 |
2.3e-82 |
PFAM |
Pfam:Sec23_BS
|
403 |
506 |
7.2e-33 |
PFAM |
Pfam:Sec23_helical
|
522 |
620 |
1.1e-28 |
PFAM |
Pfam:Gelsolin
|
631 |
720 |
1e-18 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000128210
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000146487
|
Coding Region Coverage |
|
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 SEC23 subfamily of the SEC23/SEC24 family, which is involved in vesicle trafficking. The encoded protein has similarity to yeast Sec23p component of COPII. COPII is the coat protein complex responsible for vesicle budding from the ER. The function of this gene product has been implicated in cargo selection and concentration. Multiple alternatively spliced transcript variants have been identified in this gene. [provided by RefSeq, Feb 2010] PHENOTYPE: Mice homozygous for a null mutation display complete neonatal lethality, fail to suckle, and show degeneration of the secretory tissues in the pancreas, salivary gland, and gastric glands. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 48 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adss1 |
A |
G |
12: 112,599,155 (GRCm39) |
I129V |
probably benign |
Het |
Ankrd35 |
A |
G |
3: 96,591,373 (GRCm39) |
H553R |
probably benign |
Het |
Brca2 |
A |
G |
5: 150,483,950 (GRCm39) |
K2923R |
probably benign |
Het |
Cadm3 |
A |
T |
1: 173,172,583 (GRCm39) |
L174M |
probably damaging |
Het |
Car10 |
T |
C |
11: 92,991,101 (GRCm39) |
V17A |
probably benign |
Het |
Cep290 |
A |
G |
10: 100,387,686 (GRCm39) |
K1956E |
possibly damaging |
Het |
Cfhr1 |
T |
A |
1: 139,475,565 (GRCm39) |
|
probably benign |
Het |
Crim1 |
A |
T |
17: 78,623,179 (GRCm39) |
|
probably benign |
Het |
Dedd |
G |
A |
1: 171,168,486 (GRCm39) |
R224H |
probably damaging |
Het |
F7 |
A |
T |
8: 13,084,001 (GRCm39) |
I229L |
probably null |
Het |
Igkv17-121 |
A |
T |
6: 68,014,284 (GRCm39) |
Q112L |
probably damaging |
Het |
Kcnk13 |
G |
A |
12: 100,027,369 (GRCm39) |
R148Q |
probably damaging |
Het |
Klk13 |
T |
C |
7: 43,370,904 (GRCm39) |
L51P |
probably benign |
Het |
Ldb2 |
A |
G |
5: 44,956,715 (GRCm39) |
S41P |
possibly damaging |
Het |
Magi2 |
A |
G |
5: 20,748,616 (GRCm39) |
D767G |
probably damaging |
Het |
Mical3 |
T |
C |
6: 121,019,199 (GRCm39) |
T8A |
probably benign |
Het |
Mkln1 |
G |
T |
6: 31,435,994 (GRCm39) |
E318* |
probably null |
Het |
Mx1 |
C |
T |
16: 97,257,554 (GRCm39) |
V68I |
possibly damaging |
Het |
Mylk2 |
T |
C |
2: 152,759,279 (GRCm39) |
V350A |
possibly damaging |
Het |
Nav2 |
T |
A |
7: 49,114,627 (GRCm39) |
S870R |
probably damaging |
Het |
Onecut2 |
A |
T |
18: 64,474,579 (GRCm39) |
K358* |
probably null |
Het |
Or51b4 |
A |
G |
7: 103,531,339 (GRCm39) |
I37T |
possibly damaging |
Het |
Or52n2c |
A |
T |
7: 104,574,971 (GRCm39) |
|
probably benign |
Het |
Or7a40 |
T |
C |
16: 16,491,390 (GRCm39) |
T152A |
probably benign |
Het |
Or7g16 |
T |
C |
9: 18,726,685 (GRCm39) |
R302G |
probably benign |
Het |
Orai3 |
A |
G |
7: 127,372,725 (GRCm39) |
|
probably benign |
Het |
Rad54b |
A |
G |
4: 11,615,569 (GRCm39) |
N859S |
probably benign |
Het |
Saxo4 |
A |
G |
19: 10,454,384 (GRCm39) |
|
probably benign |
Het |
Slc25a35 |
T |
C |
11: 68,859,496 (GRCm39) |
F3S |
probably damaging |
Het |
Slc7a11 |
A |
T |
3: 50,326,788 (GRCm39) |
I491K |
possibly damaging |
Het |
Srrt |
A |
T |
5: 137,298,106 (GRCm39) |
N317K |
possibly damaging |
Het |
Sspo |
T |
C |
6: 48,450,592 (GRCm39) |
|
probably benign |
Het |
Taf2 |
A |
C |
15: 54,909,195 (GRCm39) |
D683E |
probably benign |
Het |
Tasor |
T |
A |
14: 27,164,509 (GRCm39) |
C272S |
probably damaging |
Het |
Tcerg1l |
G |
T |
7: 137,850,173 (GRCm39) |
|
probably benign |
Het |
Tg |
G |
T |
15: 66,586,955 (GRCm39) |
V1578F |
probably benign |
Het |
Tmem43 |
G |
A |
6: 91,457,682 (GRCm39) |
G188D |
probably damaging |
Het |
Tnfrsf8 |
T |
C |
4: 145,025,354 (GRCm39) |
Y73C |
probably damaging |
Het |
Ttc21a |
A |
G |
9: 119,771,642 (GRCm39) |
Y147C |
probably benign |
Het |
Ttn |
T |
C |
2: 76,608,394 (GRCm39) |
D17843G |
probably damaging |
Het |
Ttn |
T |
A |
2: 76,642,521 (GRCm39) |
D11592V |
probably damaging |
Het |
Tubgcp5 |
T |
A |
7: 55,475,329 (GRCm39) |
I842N |
probably damaging |
Het |
Unc80 |
A |
T |
1: 66,511,258 (GRCm39) |
T89S |
probably damaging |
Het |
Usp28 |
T |
C |
9: 48,950,355 (GRCm39) |
M928T |
probably damaging |
Het |
Usp43 |
A |
G |
11: 67,770,802 (GRCm39) |
S611P |
possibly damaging |
Het |
Utp20 |
A |
G |
10: 88,626,958 (GRCm39) |
V1000A |
probably benign |
Het |
Zfp263 |
T |
C |
16: 3,566,824 (GRCm39) |
C380R |
probably damaging |
Het |
Zfyve1 |
A |
C |
12: 83,605,413 (GRCm39) |
C14G |
probably damaging |
Het |
|
Other mutations in Sec23b |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00659:Sec23b
|
APN |
2 |
144,425,690 (GRCm39) |
critical splice donor site |
probably null |
|
IGL00668:Sec23b
|
APN |
2 |
144,401,138 (GRCm39) |
utr 5 prime |
probably benign |
|
IGL00714:Sec23b
|
APN |
2 |
144,401,145 (GRCm39) |
missense |
probably benign |
0.33 |
IGL00914:Sec23b
|
APN |
2 |
144,408,784 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01084:Sec23b
|
APN |
2 |
144,406,509 (GRCm39) |
missense |
possibly damaging |
0.81 |
IGL01341:Sec23b
|
APN |
2 |
144,427,653 (GRCm39) |
missense |
probably benign |
0.00 |
IGL01377:Sec23b
|
APN |
2 |
144,401,157 (GRCm39) |
missense |
probably damaging |
0.97 |
IGL01634:Sec23b
|
APN |
2 |
144,401,150 (GRCm39) |
missense |
probably damaging |
0.96 |
IGL02321:Sec23b
|
APN |
2 |
144,421,325 (GRCm39) |
critical splice donor site |
probably null |
|
IGL03027:Sec23b
|
APN |
2 |
144,429,465 (GRCm39) |
missense |
possibly damaging |
0.55 |
IGL03064:Sec23b
|
APN |
2 |
144,423,952 (GRCm39) |
missense |
probably benign |
0.00 |
IGL03240:Sec23b
|
APN |
2 |
144,408,679 (GRCm39) |
splice site |
probably benign |
|
R0004:Sec23b
|
UTSW |
2 |
144,406,482 (GRCm39) |
splice site |
probably benign |
|
R0092:Sec23b
|
UTSW |
2 |
144,408,830 (GRCm39) |
missense |
probably benign |
0.21 |
R0409:Sec23b
|
UTSW |
2 |
144,409,832 (GRCm39) |
missense |
probably benign |
0.22 |
R0426:Sec23b
|
UTSW |
2 |
144,410,532 (GRCm39) |
unclassified |
probably benign |
|
R0441:Sec23b
|
UTSW |
2 |
144,423,917 (GRCm39) |
missense |
probably damaging |
1.00 |
R1034:Sec23b
|
UTSW |
2 |
144,432,258 (GRCm39) |
missense |
possibly damaging |
0.87 |
R1624:Sec23b
|
UTSW |
2 |
144,409,049 (GRCm39) |
missense |
probably benign |
|
R2020:Sec23b
|
UTSW |
2 |
144,408,864 (GRCm39) |
missense |
possibly damaging |
0.49 |
R2392:Sec23b
|
UTSW |
2 |
144,427,507 (GRCm39) |
splice site |
probably null |
|
R3946:Sec23b
|
UTSW |
2 |
144,423,893 (GRCm39) |
missense |
probably benign |
|
R4407:Sec23b
|
UTSW |
2 |
144,416,638 (GRCm39) |
missense |
possibly damaging |
0.53 |
R4448:Sec23b
|
UTSW |
2 |
144,401,171 (GRCm39) |
missense |
probably benign |
0.43 |
R4519:Sec23b
|
UTSW |
2 |
144,423,935 (GRCm39) |
missense |
possibly damaging |
0.86 |
R4522:Sec23b
|
UTSW |
2 |
144,420,286 (GRCm39) |
missense |
possibly damaging |
0.80 |
R4654:Sec23b
|
UTSW |
2 |
144,414,494 (GRCm39) |
missense |
probably benign |
0.33 |
R4849:Sec23b
|
UTSW |
2 |
144,427,519 (GRCm39) |
missense |
probably damaging |
0.96 |
R4876:Sec23b
|
UTSW |
2 |
144,428,281 (GRCm39) |
splice site |
probably null |
|
R4983:Sec23b
|
UTSW |
2 |
144,423,873 (GRCm39) |
missense |
probably benign |
0.06 |
R6169:Sec23b
|
UTSW |
2 |
144,428,894 (GRCm39) |
missense |
probably damaging |
1.00 |
R6702:Sec23b
|
UTSW |
2 |
144,401,109 (GRCm39) |
splice site |
probably null |
|
R6703:Sec23b
|
UTSW |
2 |
144,401,109 (GRCm39) |
splice site |
probably null |
|
R6748:Sec23b
|
UTSW |
2 |
144,408,714 (GRCm39) |
missense |
probably damaging |
1.00 |
R7238:Sec23b
|
UTSW |
2 |
144,432,258 (GRCm39) |
missense |
possibly damaging |
0.87 |
R7511:Sec23b
|
UTSW |
2 |
144,432,269 (GRCm39) |
missense |
probably benign |
0.30 |
R7845:Sec23b
|
UTSW |
2 |
144,401,316 (GRCm39) |
missense |
possibly damaging |
0.67 |
R7914:Sec23b
|
UTSW |
2 |
144,406,565 (GRCm39) |
missense |
probably benign |
|
R8177:Sec23b
|
UTSW |
2 |
144,427,543 (GRCm39) |
missense |
probably benign |
0.03 |
R8183:Sec23b
|
UTSW |
2 |
144,401,189 (GRCm39) |
missense |
probably benign |
0.08 |
R8238:Sec23b
|
UTSW |
2 |
144,406,568 (GRCm39) |
missense |
probably benign |
0.00 |
R8420:Sec23b
|
UTSW |
2 |
144,401,234 (GRCm39) |
missense |
probably benign |
0.01 |
R8488:Sec23b
|
UTSW |
2 |
144,423,983 (GRCm39) |
missense |
probably damaging |
0.98 |
R8558:Sec23b
|
UTSW |
2 |
144,428,308 (GRCm39) |
missense |
possibly damaging |
0.90 |
R8911:Sec23b
|
UTSW |
2 |
144,401,316 (GRCm39) |
missense |
probably benign |
0.27 |
R8939:Sec23b
|
UTSW |
2 |
144,411,137 (GRCm39) |
critical splice donor site |
probably null |
|
R9058:Sec23b
|
UTSW |
2 |
144,424,010 (GRCm39) |
missense |
probably damaging |
1.00 |
R9172:Sec23b
|
UTSW |
2 |
144,401,179 (GRCm39) |
missense |
probably benign |
|
R9334:Sec23b
|
UTSW |
2 |
144,410,550 (GRCm39) |
missense |
possibly damaging |
0.83 |
R9401:Sec23b
|
UTSW |
2 |
144,420,286 (GRCm39) |
missense |
probably benign |
0.10 |
R9561:Sec23b
|
UTSW |
2 |
144,408,728 (GRCm39) |
missense |
possibly damaging |
0.84 |
R9593:Sec23b
|
UTSW |
2 |
144,410,564 (GRCm39) |
missense |
probably benign |
0.20 |
R9696:Sec23b
|
UTSW |
2 |
144,428,343 (GRCm39) |
missense |
probably benign |
0.03 |
|
Posted On |
2016-08-02 |