|Institutional Source||Beutler Lab|
|Gene Name||Sec24 related gene family, member B (S. cerevisiae)|
|Essential gene?||Possibly essential (E-score: 0.662)|
|Stock #||R2020 (G1)|
|Chromosomal Location||129982759-130061553 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||C to T at 129987728 bp (GRCm38)|
|Amino Acid Change||Valine to Methionine at position 1166 (V1166M)|
|Ref Sequence||ENSEMBL: ENSMUSP00000001079 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000001079] [ENSMUST00000165873]|
AA Change: V1166M
PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
AA Change: V1166M
|Meta Mutation Damage Score||0.2099|
|Coding Region Coverage||
|Validation Efficiency||99% (87/88)|
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||
|Other mutations in Sec24b||
(F):5'- AATGTAAGAGGCGGGCTCAC -3'
(R):5'- GACAATGGGAGCTGCTTTTGATTC -3'
(F):5'- GAATTCCACGGTTAAGTGTCCTTCAG -3'
(R):5'- AATGGGAGCTGCTTTTGATTCTTCTC -3'