|Institutional Source||Beutler Lab|
|Gene Name||homocysteine-inducible, endoplasmic reticulum stress-inducible, ubiquitin-like domain member 1|
|Essential gene?||Possibly non essential (E-score: 0.346)|
|Stock #||R6702 (G1)|
|Chromosomal Location||94386438-94395377 bp(+) (GRCm38)|
|Type of Mutation||critical splice donor site (2 bp from exon)|
|DNA Base Change (assembly)||T to C at 94392526 bp (GRCm38)|
|Amino Acid Change|
|Ref Sequence||ENSEMBL: ENSMUSP00000124201 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000034220] [ENSMUST00000161085] [ENSMUST00000161576] [ENSMUST00000211982]|
|Meta Mutation Damage Score||0.9501|
|Coding Region Coverage||
|Validation Efficiency||97% (59/61)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The accumulation of unfolded proteins in the endoplasmic reticulum (ER) triggers the ER stress response. This response includes the inhibition of translation to prevent further accumulation of unfolded proteins, the increased expression of proteins involved in polypeptide folding, known as the unfolded protein response (UPR), and the destruction of misfolded proteins by the ER-associated protein degradation (ERAD) system. This gene may play a role in both UPR and ERAD. Its expression is induced by UPR and it has an ER stress response element in its promoter region while the encoded protein has an N-terminal ubiquitin-like domain which may interact with the ERAD system. This protein has been shown to interact with presenilin proteins and to increase the level of amyloid-beta protein following its overexpression. Alternative splicing of this gene produces multiple transcript variants encoding different isoforms. The full-length nature of all transcript variants has not been determined. [provided by RefSeq, Jan 2013]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit impaired glucose tolerance and decreased cerebral infarction size. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Herpud1||
(F):5'- ATGAATGCACAAGGTGGCCC -3'
(R):5'- TGTACTTCATGAGCCTGACAGG -3'
(F):5'- CCCCTGGTGGAGGAAGATG -3'
(R):5'- GTCATTTATCCACCGACCAGATGATG -3'