|Institutional Source||Beutler Lab|
|Gene Name||SEC23 homolog A, COPII coat complex component|
|Is this an essential gene?||Possibly essential (E-score: 0.565)|
|Stock #||R4969 (G1)|
|Chromosomal Location||58958383-59012017 bp(-) (GRCm38)|
|Type of Mutation||critical splice donor site (2 bp from exon)|
|DNA Base Change (assembly)||A to G at 59004488 bp|
|Amino Acid Change|
|Ref Sequence||ENSEMBL: ENSMUSP00000021375 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000021375] [ENSMUST00000165134]|
|Predicted Effect||probably null
|Predicted Effect||noncoding transcript
|Predicted Effect||probably benign
|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. It is part of a protein complex and found in the ribosome-free transitional face of the endoplasmic reticulum (ER) and associated vesicles. This protein has similarity to yeast Sec23p component of COPII. COPII is the coat protein complex responsible for vesicle budding from the ER. The encoded protein is suggested to play a role in the ER-Golgi protein trafficking. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele die during mid-embryogenesis exhibiting defects in neural tube closure and extraembryonic membrane formation as well as broad secretion defects of multiple collagen species in different tissues. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Sec23a||
(F):5'- TGACCAATCACCAGATAATTCCAG -3'
(R):5'- GCTGGTCATATAGGGAAATGCT -3'
(F):5'- TCACCAGATAATTCCAGTTGGG -3'
(R):5'- TCTACAGTGAGTTTCAGGAGAGCC -3'