|Institutional Source||Beutler Lab|
|Gene Name||UV radiation resistance associated gene|
|Is this an essential gene?||Probably essential (E-score: 0.958)|
|Stock #||R7769 (G1)|
|Chromosomal Location||98885021-99141141 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||G to A at 98979721 bp|
|Amino Acid Change||Proline to Serine at position 380 (P380S)|
|Ref Sequence||ENSEMBL: ENSMUSP00000045297 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000037968]|
|Predicted Effect||probably damaging
AA Change: P380S
PolyPhen 2 Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)
AA Change: P380S
|Predicted Effect||probably benign
|Coding Region Coverage||
|Validation Efficiency||96% (71/74)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene complements the ultraviolet sensitivity of xeroderma pigmentosum group C cells and encodes a protein with a C2 domain. The protein activates the Beclin1-PI(3)KC3 complex, promoting autophagy and suppressing the proliferation and tumorigenicity of human colon cancer cells. Chromosomal aberrations involving this gene are associated with left-right axis malformation and mutations in this gene have been associated with colon cancer. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a transposon induced knock-out allele are viable and fertile but exhibit impaired autophagic flux, autophagosome accumulation in the heart, and age-related cardiomyopathy associated with compromised cardiac function and heart inflammation. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Uvrag||
(F):5'- AGACGACACTTCATCTTTCCAG -3'
(R):5'- AGTAGGTGCAGTTTCAAGCC -3'
(F):5'- AGCATACTCAGCGTTTCACCATG -3'
(R):5'- GGTGCAGTTTCAAGCCTTATTAATG -3'