|Institutional Source||Beutler Lab|
|Gene Name||small VCP/p97-interacting protein|
|Is this an essential gene?||Probably non essential (E-score: 0.131)|
|Stock #||R7941 (G1)|
|Chromosomal Location||51997171-52006018 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to C at 52003413 bp|
|Amino Acid Change||Lysine to Arginine at position 51 (K51R)|
|Ref Sequence||ENSEMBL: ENSMUSP00000096014 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000098414] [ENSMUST00000209193]|
|Predicted Effect||probably benign
AA Change: K51R
PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
AA Change: K51R
|Coding Region Coverage||
|Validation Efficiency||98% (43/44)|
|MGI Phenotype||FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Endoplasmic reticulum-associated degradation (ERAD) is the pathway by which misfolded proteins in the endoplasmic reticulum are targeted to the proteasome for degradation. Multiple specialized proteins interact with one another during ERAD to complete this process. The protein encoded by this gene is an inhibitor of ERAD, functioning to disrupt the interaction of these protein components. This downregulation of ERAD may be needed to protect the cell from overactive protein degradation. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2016]|
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Svip||
(F):5'- TAAGTAGACACTTCCTCTAGCCTATG -3'
(R):5'- GAATTCCCTGTGGTTTTCCCAG -3'
(F):5'- CCTATGTTCTTGATTGATTTTCAAGC -3'
(R):5'- TTTCCCAGATGAAACGGCTG -3'