|Institutional Source||Beutler Lab|
|Gene Name||Der1-like domain family, member 1|
|Is this an essential gene?||Essential (E-score: 1.000)|
|Stock #||R7771 (G1)|
|Chromosomal Location||57869502-57892448 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to C at 57880040 bp|
|Amino Acid Change||Aspartic acid to Glycine at position 97 (D97G)|
|Ref Sequence||ENSEMBL: ENSMUSP00000022993 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000022993]|
|Predicted Effect||probably damaging
AA Change: D97G
PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
AA Change: D97G
|Coding Region Coverage||
|Validation Efficiency||100% (56/56)|
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 derlin family. Members of this family participate in the ER-associated degradation response and retrotranslocate misfolded or unfolded proteins from the ER lumen to the cytosol for proteasomal degradation. This protein recognizes substrate in the ER and works in a complex to retrotranslocate it across the ER membrane into the cytosol. This protein may select cystic fibrosis transmembrane conductance regulator protein (CFTR) for degradation as well as unfolded proteins in Alzheimer's disease. Alternative splicing results in multiple transcript variants that encode different protein isoforms. [provided by RefSeq, Aug 2012]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit lethality during embryogenesis. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Derl1||
(F):5'- ACTCCAGTGAGAGAAGGCATC -3'
(R):5'- GTGCTCCTATGTCCCAAAGG -3'
(F):5'- GGATTTACCCTGGCTTCAAAGAC -3'
(R):5'- ATGTCCCAAAGGTCACACTTTTTG -3'