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|Institutional Source||Beutler Lab|
|Gene Name||endoplasmic reticulum protein 44|
|Is this an essential gene?||Probably essential (E-score: 0.935)|
|Stock #||R8213 (G1)|
|Chromosomal Location||48193323-48279558 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to T at 48208783 bp|
|Amino Acid Change||Serine to Threonine at position 226 (S226T)|
|Ref Sequence||ENSEMBL: ENSMUSP00000030028 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000030028]|
|Predicted Effect||probably benign
AA Change: S226T
PolyPhen 2 Score 0.029 (Sensitivity: 0.95; Specificity: 0.82)
AA Change: S226T
|Coding Region Coverage||
|Validation Efficiency||98% (65/66)|
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'- TGCTCTATGAAACCAGCTGGG -3'
(R):5'- ATAATTGTCTTAAATCTGGGGAGGG -3'
(F):5'- AGTGATGGCTCTCACAACTG -3'
(R):5'- AATCTGGGGAGGGTCTTTTATATCAC -3'