|Institutional Source||Beutler Lab|
|Gene Name||SEC23 homolog B, COPII coat complex component|
|Is this an essential gene?||Essential (E-score: 1.000)|
|Stock #||R8177 (G1)|
|Chromosomal Location||144556229-144590749 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||C to T at 144585623 bp|
|Amino Acid Change||Proline to Leucine at position 590 (P590L)|
|Ref Sequence||ENSEMBL: ENSMUSP00000028916 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000028916]|
|Predicted Effect||probably benign
AA Change: P590L
PolyPhen 2 Score 0.028 (Sensitivity: 0.95; Specificity: 0.81)
AA Change: P590L
|Coding Region Coverage||
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||
|Other mutations in Sec23b||
(F):5'- TGTGTGTCCAGTAGAAGGCAC -3'
(R):5'- ATGGCATTCTGAGGAAAGCGC -3'
(F):5'- AGTAGAAGGCACTCTCTATTTCC -3'
(R):5'- AAAGCGCGTATGTCCGTTC -3'