|Institutional Source||Beutler Lab|
|Gene Name||endoplasmic reticulum protein 44|
|Is this an essential gene?||Probably essential (E-score: 0.941)|
|Stock #||R6911 (G1)|
|Chromosomal Location||48193323-48279558 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||G to T at 48204268 bp|
|Amino Acid Change||Histidine to Asparagine at position 298 (H298N)|
|Ref Sequence||ENSEMBL: ENSMUSP00000030028 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000030028]|
|Predicted Effect||probably benign
AA Change: H298N
PolyPhen 2 Score 0.170 (Sensitivity: 0.92; Specificity: 0.87)
AA Change: H298N
|Meta Mutation Damage Score||0.0822|
|Coding Region Coverage||
|Validation Efficiency||98% (60/61)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the protein disulfide isomerase (PDI) family of endoplasmic reticulum (ER) proteins. It has an inferred N-terminal signal peptide, a catalytically active thioredoxin (TRX) domain, two TRX-like domains and a C-terminal ER-retention sequence. This protein functions as a pH-regulated chaperone of the secretory pathway and likely plays a role in protein quality control at the endoplasmic reticulum - Golgi interface. [provided by RefSeq, Dec 2016]
PHENOTYPE: Mice homozygous for an ENU-induced allele exhibit light coat colour, small stature and scaly tail. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Erp44||
(F):5'- GTCAAGCAACTGTCTCACATTCAAC -3'
(R):5'- AAGGGAATTATACTCTGCCCTG -3'
(F):5'- GTCTCACATTCAACTTTATGGGAC -3'
(R):5'- GGGAATTATACTCTGCCCTGAGAAC -3'