|Institutional Source||Beutler Lab|
|Gene Name||Sec23 interacting protein|
|Is this an essential gene?||Possibly essential (E-score: 0.664)|
|Stock #||R6953 (G1)|
|Chromosomal Location||128744943-128784836 bp(+) (GRCm38)|
|Type of Mutation||nonsense|
|DNA Base Change (assembly)||C to A at 128752796 bp|
|Amino Acid Change||Serine to Stop codon at position 78 (S78*)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000042942] [ENSMUST00000206986]|
|Predicted Effect||possibly damaging
AA Change: Q259K
PolyPhen 2 Score 0.679 (Sensitivity: 0.86; Specificity: 0.92)
AA Change: Q259K
|Predicted Effect||probably null
AA Change: S78*
|Predicted Effect||probably benign
|Coding Region Coverage||
|Validation Efficiency||98% (54/55)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the phosphatidic acid preferring-phospholipase A1 family. The encoded protein is localized to endoplasmic reticulum exit sites and plays a critical role in ER-Golgi transport as part of the multimeric coat protein II complex. An orthologous gene in frogs is required for normal neural crest cell development, suggesting that this gene may play a role in Waardenburg syndrome neural crest defects. Alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, Feb 2011]
PHENOTYPE: Male mice homozygous for a null allele display reduced fertility with globozoospermia and impaired fertilization. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Sec23ip||
(F):5'- GTTACCTGGAAAGACACGTAGG -3'
(R):5'- ATCTGAAAACCTGCACAGATTAAGG -3'
(F):5'- CACGTAGGATAGCTAATACTGATACC -3'
(R):5'- GAATCTGACAGTTGAAAACAAGACC -3'