|Institutional Source||Beutler Lab|
|Gene Name||Sec23 interacting protein|
|Is this an essential gene?||Possibly essential (E-score: 0.549)|
|Stock #||R5287 (G1)|
|Chromosomal Location||128744943-128784836 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to G at 128766136 bp|
|Amino Acid Change||Glutamic Acid to Glycine at position 624 (E624G)|
|Ref Sequence||ENSEMBL: ENSMUSP00000035610 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000042942]|
|Predicted Effect||probably benign
AA Change: E624G
PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
AA Change: E624G
|Meta Mutation Damage Score||0.0704|
|Coding Region Coverage||
|Validation Efficiency||98% (56/57)|
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'- GTGAAGGCTTAGGATTTCTAAAAGTAA -3'
(R):5'- AAACGTTTAAGTTTTGGGCTTATTTG -3'
(F):5'- ATCCAGGTGAAAGATGGC -3'
(R):5'- GTAGTCAAACAGGCTGAGT -3'