|Institutional Source||Beutler Lab|
|Gene Name||arginine glutamic acid dipeptide (RE) repeats|
|Synonyms||1110033A15Rik, eyes3, Atr2, eye
|Is this an essential gene?||Essential (E-score: 1.000)|
|Stock #||R4512 (G1)|
|Chromosomal Location||150281646-150621966 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to A at 150477452 bp (GRCm38)|
|Amino Acid Change||Tyrosine to Asparagine at position 272 (Y272N)|
|Ref Sequence||ENSEMBL: ENSMUSP00000101307 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000105682]|
AA Change: Y272N
AA Change: Y272N
|Meta Mutation Damage Score||0.9255|
|Coding Region Coverage||
|Validation Efficiency||99% (67/68)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the atrophin family of arginine-glutamic acid (RE) dipeptide repeat-containing proteins. The encoded protein co-localizes with a transcription factor in the nucleus, and its overexpression triggers apoptosis. A similar protein in mouse associates with histone deacetylase and is thought to function as a transcriptional co-repressor during embryonic development. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for disruptions in this gene display embryonic lethality with abnormalities in neural tube development, somite development, and in the embryonic heart. Mice homozygous for an ENU-induced allele exhibit narrow snouts, decreased body weight, renal agenesis and small eyes. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Rere||
(F):5'- TTGCCAATGAAGCGTGAACAC -3'
(R):5'- CATACCTTTCCTTGCCTAACCAAAG -3'
(F):5'- ATATATTCTATGCTTCCCTCACCC -3'
(R):5'- TTTCCTTGCCTAACCAAAGCAAAGG -3'